Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut PTPN13 5783 broad.mit.edu 37 4 87643512 87643512 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:87643512G>T ENST00000436978.1 + 10 2013 c.1533G>T c.(1531-1533)gcG>gcT p.A511A PTPN13_ENST00000427191.2_Silent_p.A511A|PTPN13_ENST00000316707.6_Silent_p.A511A|PTPN13_ENST00000411767.2_Silent_p.A511A|PTPN13_ENST00000511467.1_Silent_p.A511A NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 511 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity p.A511A(1) NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) CAATCAAAGCGTCCATGCTTG 0.453000 35 152 6.53348e-20 1.19182e-19 0.003755 1 0 GIMAP8 155038 broad.mit.edu 37 7 150164204 150164204 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:150164204G>T ENST00000307271.3 + 2 992 c.418G>T c.(418-420)Ggg>Tgg p.G140W NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 140 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding p.G140W(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GGATGATTTGGGGGATGACTT 0.453000 20 65 2.94398e-08 4.24958e-08 0.007413 1 0 GRIK1 2897 broad.mit.edu 37 21 31023525 31023525 + Silent SNP G G A rs146591187 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr21:31023525G>A ENST00000399914.1 - 6 1388 c.867C>T c.(865-867)caC>caT p.H289H GRIK1_ENST00000389125.3_Silent_p.H289H|GRIK1_ENST00000399907.1_Silent_p.H289H|GRIK1_ENST00000399913.1_Silent_p.H289H|GRIK1_ENST00000309434.7_Silent_p.H289H|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000535441.1_Silent_p.H289H|GRIK1_ENST00000327783.4_Silent_p.H289H|GRIK1_ENST00000389124.2_Silent_p.H289H|GRIK1_ENST00000399909.1_Silent_p.H289H P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 289 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity p.H289H(2) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TGGATGACACGTGAGGGTTGT 0.488000 6 58 0 0 0.001984 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564576 176564576 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:176564576C>G ENST00000367662.3 + 3 3000 c.1836C>G c.(1834-1836)tgC>tgG p.C612W PAPPA2_ENST00000367661.3_Missense_Mutation_p.C612W NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 612 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.C612W(2) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGGGTGACTGCCGCCTGCAGG 0.587000 4 77 0 0 0.001984 0 0 SLC9A2 6549 broad.mit.edu 37 2 103300762 103300762 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:103300762C>T ENST00000233969.2 + 5 1534 c.1392C>T c.(1390-1392)gcC>gcT p.A464A NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 464 integral to membrane|plasma membrane sodium:hydrogen antiporter activity p.A464A(1) breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TTACGGCTGCCATTGTTGTCA 0.403000 50 152 0 0 0.003610 0 0 DNMT1 1786 broad.mit.edu 37 19 10249218 10249218 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:10249218C>G ENST00000340748.4 - 34 4199 c.3964G>C c.(3964-3966)Gag>Cag p.E1322Q DNMT1_ENST00000540357.1_Missense_Mutation_p.E1322Q|DNMT1_ENST00000359526.4_Missense_Mutation_p.E1338Q P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 1322 Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding p.E1322Q(1) breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) GGGAGCTTCTCTCCAGGGGCC 0.642000 6 52 0 0 0.001168 0 0 SLC25A40 55972 broad.mit.edu 37 7 87483519 87483519 + Splice_Site SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:87483519C>A ENST00000341119.5 - 5 610 c.264_splice c.e5+1 p.L88_splice NM_018843.3 NP_061331.2 Q8TBP6 S2540_HUMAN solute carrier family 25, member 40 88 transmembrane transport integral to membrane|mitochondrial inner membrane binding p.L88F(1) central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 17 Esophageal squamous(14;0.00202) ATCACCTTACCAATGTTCCCT 0.318000 17 68 1.67942e-08 2.45408e-08 0.006122 1 0 TAS2R38 5726 broad.mit.edu 37 7 141672757 141672757 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:141672757C>T ENST00000547270.1 - 1 816 c.733G>A c.(733-735)Gcc>Acc p.A245T NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 245 sensory perception of taste integral to membrane G-protein coupled receptor activity p.A245T(1) NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) GACTTGAGGGCTTTAATGTGG 0.502000 23 63 0 0 0.001882 0 0 CD180 4064 broad.mit.edu 37 5 66479590 66479590 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:66479590G>A ENST00000256447.4 - 3 1238 c.1081C>T c.(1081-1083)Ctt>Ttt p.L361F NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 361 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity p.L361F(1) cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) CCAACACCAAGGTGAAGTTTC 0.433000 35 82 0 0 0.003271 0 0 ENPEP 2028 broad.mit.edu 37 4 111441486 111441486 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:111441486C>A ENST00000265162.5 + 10 2033 c.1691C>A c.(1690-1692)cCa>cAa p.P564Q NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 564 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding p.P564Q(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TTGTTGGACCCAAGAGCTAAC 0.418000 13 83 7.93312e-07 1.07327e-06 0.002450 1 0 ZNF283 284349 broad.mit.edu 37 19 44351434 44351434 + Silent SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:44351434A>G ENST00000324461.7 + 7 978 c.681A>G c.(679-681)agA>agG p.R227R ZNF283_ENST00000588797.1_Silent_p.R88R NM_181845.1 NP_862828.1 Q8N7M2 ZN283_HUMAN zinc finger protein 283 227 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R160R(1)|p.R227R(1) endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) AACATGAGAGAACTCATACAG 0.363000 5 136 0 0 0.000602 0 0 ATG2B 55102 broad.mit.edu 37 14 96807883 96807883 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:96807883C>T ENST00000359933.4 - 6 1793 c.900G>A c.(898-900)caG>caA p.Q300Q NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 300 p.Q300Q(1) breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) GCACTTCATTCTGTTTCAACG 0.398000 60 104 0 0 0.003610 0 0 CWC27 10283 broad.mit.edu 37 5 64082413 64082413 + Missense_Mutation SNP A A C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:64082413A>C ENST00000508024.1 + 6 759 c.558A>C c.(556-558)aaA>aaC p.K186N CWC27_ENST00000381070.3_Missense_Mutation_p.K186N Q6UX04 CWC27_HUMAN CWC27 spliceosome-associated protein homolog (S. cerevisiae) 186 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity p.K186N(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1) 21 AAAAAGAGAAACCAGAGGAGG 0.303000 3 19 0 0 0.000602 0 0 ACSM2B 348158 broad.mit.edu 37 16 20554314 20554314 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:20554314C>A ENST00000329697.6 - 12 1599 c.1431G>T c.(1429-1431)gaG>gaT p.E477D ACSM2B_ENST00000567001.1_Missense_Mutation_p.E477D|ACSM2B_ENST00000565322.1_Missense_Mutation_p.E398D|ACSM2B_ENST00000565232.1_Missense_Mutation_p.E477D NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 477 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding p.E477D(1) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CATTCTCTACCTCCGAGGGTC 0.577000 14 82 1.05317e-09 1.60097e-09 0.002450 1 0 GPRIN2 9721 broad.mit.edu 37 10 46999701 46999701 + Missense_Mutation SNP A A C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:46999701A>C ENST00000374314.4 + 1 1776 c.821A>C c.(820-822)cAt>cCt p.H274P GPRIN2_ENST00000374317.1_Missense_Mutation_p.H274P O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 274 p.H274P(1) breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 CAGGCTCAGCATGGGGTGAAG 0.632000 4 83 0 0 0.000248 0 0 CPPED1 55313 broad.mit.edu 37 16 12875245 12875245 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:12875245C>A ENST00000381774.4 - 2 326 c.86G>T c.(85-87)tGg>tTg p.W29L CPPED1_ENST00000433677.2_Missense_Mutation_p.W29L|CPPED1_ENST00000261660.4_Missense_Mutation_p.W29L NM_018340.2 NP_060810.2 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain containing 1 29 hydrolase activity|metal ion binding p.W29L(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1) 18 TGGGCCTTTCCATTCGCTTTC 0.473000 6 37 0.00116845 0.00137464 0.001168 1 0 KLHL34 257240 broad.mit.edu 37 X 21674113 21674113 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:21674113G>A ENST00000379499.2 - 1 2335 c.1794C>T c.(1792-1794)gaC>gaT p.D598D NM_153270.1 NP_695002.1 Q8N239 KLH34_HUMAN kelch-like family member 34 598 p.D598D(1) cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 AACGGTCCAGGTCGAGGTCGT 0.711000 5 13 0 0 0.000602 0 0 DOT1L 84444 broad.mit.edu 37 19 2220147 2220147 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:2220147C>T ENST00000398665.3 + 23 2768 c.2732C>T c.(2731-2733)tCg>tTg p.S911L NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 911 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding p.S911L(2) NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGTGACCCCTCGTCCACACTT 0.642000 4 25 0 0 0.000602 0 0 GPR158 57512 broad.mit.edu 37 10 25887045 25887045 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:25887045G>T ENST00000376351.3 + 11 2849 c.2490G>T c.(2488-2490)gaG>gaT p.E830D GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 830 integral to membrane|plasma membrane G-protein coupled receptor activity p.E830D(1) breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 AAACGGAAGAGTCCAGTAGCC 0.463000 37 132 1.49673e-21 2.76987e-21 0.006230 1 0 AKAP9 10142 broad.mit.edu 37 7 91672051 91672051 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:91672051G>A ENST00000359028.2 + 21 5389 c.5164G>A c.(5164-5166)Gaa>Aaa p.E1722K AKAP9_ENST00000358100.2_Missense_Mutation_p.E1722K|AKAP9_ENST00000356239.3_Missense_Mutation_p.E1710K Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1722 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding p.E1722K(1)|p.E1710K(1) NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CAGAAAACCTGAAGATGTGCC 0.318000 T BRAF papillary thyroid 16 169 0 0 0.007413 0 0 PDE2A 5138 broad.mit.edu 37 11 72290403 72290403 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:72290403T>A ENST00000334456.5 - 27 2526 c.2281A>T c.(2281-2283)Atg>Ttg p.M761L PDE2A_ENST00000540345.1_Missense_Mutation_p.M752L|PDE2A_ENST00000544570.1_Missense_Mutation_p.M754L|PDE2A_ENST00000418754.2_Missense_Mutation_p.M646L|PDE2A_ENST00000376450.3_Missense_Mutation_p.M505L|PDE2A_ENST00000444035.2_Missense_Mutation_p.M752L NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 761 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding p.M761L(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) ATGTCCCGCATCAGATCCAGC 0.597000 14 37 0 0 0.002450 0 0 CNGA2 1260 broad.mit.edu 37 X 150912786 150912786 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:150912786T>A ENST00000329903.4 + 6 1844 c.1811T>A c.(1810-1812)cTg>cAg p.L604Q NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 604 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity p.L604Q(1) breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) CTAGGGCAGCTGGAGACCAAC 0.582000 29 60 0 0 0.006320 0 0 TNRC18 84629 broad.mit.edu 37 7 5410699 5410699 + Nonsense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:5410699C>A ENST00000399537.4 - 11 3874 c.3526G>T c.(3526-3528)Gag>Tag p.E1176* TNRC18_ENST00000430969.1_Nonsense_Mutation_p.E1176* O15417 TNC18_HUMAN trinucleotide repeat containing 18 1176 Pro-rich. DNA binding p.E1176*(2)|p.E231*(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) AGCGGCGACTCCAGAGGCGGC 0.716000 4 40 0.00024832 0.000300665 0.000248 1 0 SLC8A1 6546 broad.mit.edu 37 2 40656124 40656124 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:40656124C>A ENST00000406785.1 - 2 1486 c.1297G>T c.(1297-1299)Ggt>Tgt p.G433C SLC8A1_ENST00000405269.1_Missense_Mutation_p.G433C|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G433C|SLC8A1_ENST00000403092.1_Missense_Mutation_p.G433C|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G433C|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G433C|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G433C|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G433C|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G433C|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G433C P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 433 Calx-beta 1. cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding p.G433C(1) NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AAATCACCACCTCTGCGGATA 0.433000 16 69 8.00594e-06 1.04234e-05 0.007413 1 0 CDC14A 8556 broad.mit.edu 37 1 100960421 100960421 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:100960421G>C ENST00000336454.3 + 12 1540 c.1185G>C c.(1183-1185)caG>caC p.Q395H CDC14A_ENST00000542213.1_Missense_Mutation_p.Q337H|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Missense_Mutation_p.Q395H|CDC14A_ENST00000544534.1_Missense_Mutation_p.Q395H NM_003672.3 NP_003663.2 Q9UNH5 CC14A_HUMAN cell division cycle 14A 395 cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.Q395_G396>H*(1) breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1) 31 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) GTATAACCCAGGGAGACAAAC 0.368000 4 46 0 0 0.000248 0 0 HECW1 23072 broad.mit.edu 37 7 43548638 43548638 + Nonsense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:43548638G>T ENST00000395891.1 + 24 4542 c.3937G>T c.(3937-3939)Gga>Tga p.G1313* AC011738.4_ENST00000436105.1_RNA|HECW1_ENST00000453890.1_Nonsense_Mutation_p.G1279* NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1313 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity p.G1292*(1)|p.G1313*(1) NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CCCTTACTATGGACTCTTTGA 0.493000 34 133 4.3181e-19 7.83393e-19 0.002836 1 0 C16orf59 80178 broad.mit.edu 37 16 2511049 2511049 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:2511049C>A ENST00000569496.1 + 4 488 c.429C>A c.(427-429)cgC>cgA p.R143R C16orf59_ENST00000563531.1_Silent_p.R143R|C16orf59_ENST00000361837.4_Silent_p.R143R|C16orf59_ENST00000483320.1_5'UTR Q7L2K0 CP059_HUMAN chromosome 16 open reading frame 59 143 p.R143R(1) lung(1)|skin(1)|urinary_tract(1) 3 Ovarian(90;0.17) AGGGCCTCCGCCAGACCACGG 0.687000 9 54 2.27111e-07 3.14695e-07 0.001368 1 0 SNHG14 104472715 broad.mit.edu 37 15 25451253 25451253 + RNA SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr15:25451253C>A ENST00000424208.1 + 0 2384 SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA NR_003305.1 AGAGGAAGACCCCGTGGCTCT 0.642000 8 21 1.26484e-09 1.91573e-09 0.003080 1 0 SVEP1 79987 broad.mit.edu 37 9 113132270 113132270 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:113132270C>G ENST00000401783.2 - 47 10963 c.10627G>C c.(10627-10629)Ggt>Cgt p.G3543R SVEP1_ENST00000374469.1_Missense_Mutation_p.G3520R|SVEP1_ENST00000297826.5_Missense_Mutation_p.G1469R NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3543 EGF-like 9. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding p.G3546R(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CATTTTCCACCATTTAAGCAG 0.378000 3 32 0 0 0.004672 0 0 GAD1 2571 broad.mit.edu 37 2 171715317 171715317 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:171715317G>C ENST00000358196.3 + 16 2075 c.1525G>C c.(1525-1527)Gag>Cag p.E509Q NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 509 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding p.E509Q(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TCTGCAGCCTGAGCACACAAA 0.443000 16 46 0 0 0.006122 0 0 TALDO1 6888 broad.mit.edu 37 11 764307 764307 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:764307A>G ENST00000528097.1 + 7 905 c.851A>G c.(850-852)aAa>aGa p.K284R TALDO1_ENST00000319006.3_Silent_p.E285E NM_006755.1 NP_006746.1 P37837 TALDO_HUMAN transaldolase 1 0 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity p.E285E(1) breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2) 14 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712) GTGACCTGGAAAAAATCCACC 0.582000 4 82 0 0 0.000248 0 0 NLRP3 114548 broad.mit.edu 37 1 247587916 247587916 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:247587916C>A ENST00000366497.2 + 4 1951 c.1171C>A c.(1171-1173)Caa>Aaa p.Q391K NLRP3_ENST00000336119.3_Missense_Mutation_p.Q391K|NLRP3_ENST00000391828.3_Missense_Mutation_p.Q391K|NLRP3_ENST00000391827.2_Missense_Mutation_p.Q391K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.Q391K|NLRP3_ENST00000348069.2_Missense_Mutation_p.Q391K NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 391 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.Q391K(1) NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TGATGAGGCCCAAGCCAGGGC 0.537000 25 46 4.72057e-08 6.73788e-08 0.003954 1 0 CACNG6 59285 broad.mit.edu 37 19 54502988 54502988 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:54502988C>A ENST00000252729.2 + 3 1097 c.507C>A c.(505-507)ttC>ttA p.F169L CACNG6_ENST00000352529.1_Intron|CACNG6_ENST00000346968.2_Intron NM_145814.1 NP_665813.1 Q9BXT2 CCG6_HUMAN calcium channel, voltage-dependent, gamma subunit 6 169 voltage-gated calcium channel complex voltage-gated calcium channel activity p.F169L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) GTGCAGAGTTCCTGCTCCGAG 0.582000 68 137 8.73484e-25 1.65712e-24 0.003610 1 0 IGKV2-24 28923 broad.mit.edu 37 2 89475967 89475967 + RNA SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:89475967G>T ENST00000484817.1 - 0 234 AGGAGTCTTGGAGGCTGGCCT 0.522000 55 141 5.08636e-23 9.51901e-23 0.003610 1 0 OR14A16 284532 broad.mit.edu 37 1 247978156 247978156 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:247978156C>A ENST00000357627.1 - 1 875 c.876G>T c.(874-876)aaG>aaT p.K292N NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K292N(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 CCTTTATGGCCTTGTTTCTCA 0.378000 17 53 3.62473e-10 5.60247e-10 0.001882 1 0 EPG5 57724 broad.mit.edu 37 18 43493755 43493755 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr18:43493755G>C ENST00000282041.5 - 21 3766 c.3732C>G c.(3730-3732)atC>atG p.I1244M EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1244 autophagy p.I1244M(1) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 CCTCTTCAAAGATGGATTCCA 0.493000 13 89 0 0 0.001855 0 0 ANK2 287 broad.mit.edu 37 4 114257903 114257903 + Silent SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:114257903T>C ENST00000357077.4 + 31 3815 c.3762T>C c.(3760-3762)gaT>gaC p.D1254D ANK2_ENST00000506722.1_Silent_p.D1245D|ANK2_ENST00000504887.1_3'UTR|ANK2_ENST00000394537.3_Silent_p.D1254D|ANK2_ENST00000264366.6_Silent_p.D1221D|ANK2_ENST00000509550.1_Silent_p.D430D NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1221 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.D1254D(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TTGGGGGAGATGCACCAACCT 0.388000 5 95 0 0 0.003080 0 0 GRIN3B 116444 broad.mit.edu 37 19 1008897 1008897 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:1008897G>A ENST00000234389.3 + 8 2692 c.2673G>A c.(2671-2673)tcG>tcA p.S891S NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 891 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity p.S891S(1) breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CAGAGGGGTCGAAGGAGGAGA 0.706000 3 11 0 0 0.004672 0 0 BCO2 83875 broad.mit.edu 37 11 112084521 112084521 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:112084521G>T ENST00000357685.5 + 9 1404 c.1269G>T c.(1267-1269)gaG>gaT p.E423D BCO2_ENST00000361053.4_Missense_Mutation_p.E350D|BCO2_ENST00000532593.1_Missense_Mutation_p.E318D|BCO2_ENST00000526088.1_Missense_Mutation_p.E389D|BCO2_ENST00000393032.2_Missense_Mutation_p.E389D|BCO2_ENST00000531169.1_Missense_Mutation_p.E389D|BCO2_ENST00000438022.1_Missense_Mutation_p.E389D Q9BYV7 BCDO2_HUMAN beta-carotene oxygenase 2 423 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.E423D(1) NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1) 16 ATGCCCCTGAGGGAGACAACC 0.433000 60 144 2.69953e-25 5.14492e-25 0.003610 1 0 MCHR2 84539 broad.mit.edu 37 6 100403903 100403903 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:100403903T>C ENST00000281806.2 - 2 435 c.121A>G c.(121-123)Att>Gtt p.I41V MCHR2_ENST00000369212.1_Missense_Mutation_p.I41V|MCHR2_ENST00000445970.1_Missense_Mutation_p.I41V NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 41 integral to membrane|plasma membrane G-protein coupled receptor activity p.I41V(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) ATAATCCCAATCATGGAAGGG 0.393000 22 57 0 0 0.002299 0 0 MS4A14 84689 broad.mit.edu 37 11 60164178 60164178 + Nonsense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:60164178A>T ENST00000300187.6 + 1 404 c.127A>T c.(127-129)Aga>Tga p.R43* MS4A14_ENST00000395005.2_Nonsense_Mutation_p.R43*|MS4A14_ENST00000531783.1_Nonsense_Mutation_p.R43*|MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531787.1_Intron NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 43 integral to membrane receptor activity p.R43*(1) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 GGGAGAGCCAAGAGTCTTGGG 0.428000 8 39 0 0 0.000978 0 0 PAPPA2 60676 broad.mit.edu 37 1 176679225 176679225 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:176679225G>C ENST00000367662.3 + 11 4728 c.3564G>C c.(3562-3564)ttG>ttC p.L1188F NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1188 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.L1188F(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AAGGATACTTGGATCAATGGG 0.453000 39 97 0 0 0.007835 0 0 P2RY10 27334 broad.mit.edu 37 X 78216452 78216452 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:78216452G>C ENST00000171757.2 + 4 715 c.435G>C c.(433-435)aaG>aaC p.K145N P2RY10_ENST00000475374.1_3'UTR|P2RY10_ENST00000544091.1_Missense_Mutation_p.K145N NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 145 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.K145N(1) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 GAGACTGGAAGCGTAGGTACG 0.488000 19 58 0 0 0.008871 0 0 GAD2 2572 broad.mit.edu 37 10 26518625 26518625 + Silent SNP C C A rs145045666 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:26518625C>A ENST00000376261.3 + 7 1262 c.759C>A c.(757-759)atC>atA p.I253I GAD2_ENST00000259271.3_Silent_p.I253I NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 253 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding p.I253I(2) central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) CCATGATGATCGCACGCTTTA 0.428000 11 53 1.08611e-07 1.52147e-07 0.000978 1 0 MKKS 8195 broad.mit.edu 37 20 10393358 10393358 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:10393358C>T ENST00000347364.2 - 3 1567 c.805G>A c.(805-807)Gaa>Aaa p.E269K NM_170784.2 NP_740754.1 Q9NPJ1 MKKS_HUMAN McKusick-Kaufman syndrome 269 Substrate-binding apical domain. brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development cytosol|microtubule organizing center|motile cilium ATP binding|unfolded protein binding p.E269K(1) kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2) 16 ACTGCATTTTCAAGAGAAACC 0.453000 7 53 0 0 0.001984 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763548 77763548 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:77763548C>A ENST00000521891.2 + 10 4839 c.4391C>A c.(4390-4392)cCc>cAc p.P1464H ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1438H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1419H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1419H NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1419 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P1464H(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCCTCCTTGCCCGTGAATGGA 0.512000 HNSCC(33;0.089) 9 22 0.000274275 0.000330884 0.004482 1 0 KRTAP19-7 337974 broad.mit.edu 37 21 31933543 31933543 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr21:31933543G>A ENST00000334849.2 - 1 90 c.66C>T c.(64-66)ggC>ggT p.G22G NM_181614.1 NP_853645.1 Q3SYF9 KR197_HUMAN keratin associated protein 19-7 22 intermediate filament p.G22G(1) endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 11 TATAGCCATAGCCCAGGCCAC 0.557000 12 112 0 0 0.001855 0 0 RAB28 9364 broad.mit.edu 37 4 13370268 13370268 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:13370268C>A ENST00000330852.5 - 7 794 c.580G>T c.(580-582)Gtg>Ttg p.V194L RAB28_ENST00000338176.4_3'UTR|RAB28_ENST00000288723.4_3'UTR NM_001017979.2 NP_001017979.1 P51157 RAB28_HUMAN RAB28, member RAS oncogene family 194 small GTPase mediated signal transduction plasma membrane GDP binding|GTP binding|GTPase activity p.V194L(1) endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 8 TCTGCCTTCACCACCCTCTGT 0.368000 7 26 2.0095e-06 2.67503e-06 0.001984 1 0 ARHGAP28 79822 broad.mit.edu 37 18 6896572 6896572 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr18:6896572C>T ENST00000419673.2 + 15 1717 c.1500C>T c.(1498-1500)ctC>ctT p.L500L ARHGAP28_ENST00000531294.1_Silent_p.L495L|ARHGAP28_ENST00000314319.3_Silent_p.L500L|ARHGAP28_ENST00000400091.2_Silent_p.L659L|ARHGAP28_ENST00000383472.4_Silent_p.L659L|ARHGAP28_ENST00000532996.1_Silent_p.L482L|ARHGAP28_ENST00000418986.1_Silent_p.L500L|ARHGAP28_ENST00000262227.3_Silent_p.L607L NM_001010000.2 NP_001010000.1 B4DXL2 B4DXL2_HUMAN Rho GTPase activating protein 28 482 signal transduction intracellular p.L659L(1)|p.L500L(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) CCATTCAACTCAACAATCAAA 0.443000 11 68 0 0 0.008291 0 0 KRTAP21-2 337978 broad.mit.edu 37 21 32119317 32119317 + Missense_Mutation SNP A A C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr21:32119317A>C ENST00000333892.2 - 1 234 c.204T>G c.(202-204)tgT>tgG p.C68W NM_181617.1 NP_853648.1 Q3LI59 KR212_HUMAN keratin associated protein 21-2 68 intermediate filament p.C68_G69>WS(1) lung(4)|skin(2)|upper_aerodigestive_tract(1) 7 GTCGGTAGCCACAGCAGCTAG 0.498000 12 124 0 0 0.001368 0 0 ZNF662 389114 broad.mit.edu 37 3 42956151 42956151 + Nonsense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:42956151G>T ENST00000541208.1 + 5 955 c.586G>T c.(586-588)Gaa>Taa p.E196* ZNF662_ENST00000440367.2_Nonsense_Mutation_p.E196*|ZNF662_ENST00000328199.6_Nonsense_Mutation_p.E222*|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron Q6ZS27 ZN662_HUMAN zinc finger protein 662 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E222*(1)|p.E196*(1) breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) TATATGTGAGGAATGCGGCAA 0.373000 22 46 6.33239e-15 1.09156e-14 0.001523 1 0 DDX60L 91351 broad.mit.edu 37 4 169322029 169322029 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:169322029C>T ENST00000511577.1 - 26 3686 c.3439G>A c.(3439-3441)Gtc>Atc p.V1147I DDX60L_ENST00000260184.7_Missense_Mutation_p.V1147I|DDX60L_ENST00000505890.1_Missense_Mutation_p.V1147I Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1147 ATP binding|ATP-dependent helicase activity|RNA binding p.V1147I(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) ATTGCAAAGACATAACTATGA 0.368000 9 57 0 0 0.004482 0 0 CDH12 1010 broad.mit.edu 37 5 21854810 21854810 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:21854810G>T ENST00000382254.1 - 7 1702 c.616C>A c.(616-618)Caa>Aaa p.Q206K CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000504376.2_Missense_Mutation_p.Q206K NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 206 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.Q206K(1) NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 AAATAAGGTTGTCCCTGAAGA 0.393000 HNSCC(59;0.17) 29 59 2.65835e-16 4.67959e-16 0.007291 1 0 RELN 5649 broad.mit.edu 37 7 103205894 103205894 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:103205894T>A ENST00000424685.2 - 34 5200 c.5041A>T c.(5041-5043)Agt>Tgt p.S1681C RELN_ENST00000343529.5_Missense_Mutation_p.S1681C|RELN_ENST00000428762.1_Missense_Mutation_p.S1681C P78509 RELN_HUMAN reelin 1681 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.S1681C(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AGCTGTACACTGTGGGAGTTG 0.483000 10 27 0 0 0.006214 0 0 PIP 5304 broad.mit.edu 37 7 142829214 142829214 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:142829214G>A ENST00000291009.3 + 1 45 c.5G>A c.(4-6)cGc>cAc p.R2H NM_002652.2 NP_002643.1 P12273 PIP_HUMAN prolactin-induced protein 2 extracellular region actin binding p.R2H(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 18 Melanoma(164;0.059) Ovarian(593;2.82e-05)|Breast(660;0.012) BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08) TCCAGCATGCGCTTGCTCCAG 0.552000 11 486 0 0 0.001855 0 0 IGHV3-49 28423 broad.mit.edu 37 14 107012987 107012987 + RNA SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:107012987T>A ENST00000390625.2 - 0 387 GCTGTTCATTTGCAGATAGGC 0.488000 76 125 0 0 0.003610 0 0 CDCA4 55038 broad.mit.edu 37 14 105477746 105477746 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:105477746G>C ENST00000336219.3 - 2 676 c.521C>G c.(520-522)cCc>cGc p.P174R CDCA4_ENST00000392590.3_Missense_Mutation_p.P174R NM_017955.3 NP_060425.2 Q9BXL8 CDCA4_HUMAN cell division cycle associated 4 174 nucleus p.P174R(1) endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.142) CATGCAGCTGGGGTTTTTAGT 0.562000 4 65 0 0 0.000248 0 0 IQCJ 654502 broad.mit.edu 37 3 158983078 158983078 + Silent SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:158983078T>A ENST00000482126.1 + 4 390 c.285T>A c.(283-285)ccT>ccA p.P95P IQCJ_ENST00000451172.1_Silent_p.P122P|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron NM_001197100.1 NP_001184029.1 IQ motif containing J p.P122P(1) cervix(1)|endometrium(2)|large_intestine(2)|lung(10) 15 LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534) ACAAGTTGCCTGGTGGAAGGA 0.493000 38 173 0 0 0.006999 0 0 PCK1 5105 broad.mit.edu 37 20 56138753 56138753 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:56138753G>A ENST00000319441.4 + 6 1095 c.931G>A c.(931-933)Gac>Aac p.D311N PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.D179N NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 311 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity p.D311N(1) endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CGTCGGGGATGACATTGCCTG 0.557000 33 79 0 0 0.002445 0 0 FLNC 2318 broad.mit.edu 37 7 128493676 128493676 + Splice_Site SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:128493676G>T ENST00000325888.8 + 38 6622 c.e38+1 RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Splice_Site NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding p.?(1) biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CACGTGCCTGGTAAGGCTCTG 0.607000 19 45 2.39187e-15 4.14458e-15 0.008871 1 0 SLC25A14 9016 broad.mit.edu 37 X 129492640 129492640 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:129492640G>A ENST00000543953.1 + 6 469 c.420G>A c.(418-420)ttG>ttA p.L140L SLC25A14_ENST00000545805.1_Silent_p.L175L|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Silent_p.L172L|SLC25A14_ENST00000218197.5_Silent_p.L175L|SLC25A14_ENST00000339231.3_Silent_p.L172L O95258 UCP5_HUMAN solute carrier family 25 (mitochondrial carrier, brain), member 14 175 aerobic respiration|mitochondrial transport integral to plasma membrane|mitochondrial inner membrane binding p.L175L(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1) 22 AAGGAAGCTTGTTCCAAGGGA 0.383000 24 39 0 0 0.008361 0 0 PAK7 57144 broad.mit.edu 37 20 9561532 9561532 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:9561532C>A ENST00000378429.3 - 5 796 c.250G>T c.(250-252)Ggc>Tgc p.G84C PAK7_ENST00000378423.1_Missense_Mutation_p.G84C|PAK7_ENST00000353224.5_Missense_Mutation_p.G84C NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 84 Linker. ATP binding|protein binding|protein serine/threonine kinase activity p.G84C(1) NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) TCTAGCAGGCCGTTGATGGAG 0.463000 45 169 3.77016e-25 7.17714e-25 0.003214 1 0 GPR63 81491 broad.mit.edu 37 6 97247514 97247514 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:97247514G>T ENST00000229955.3 - 2 439 c.94C>A c.(94-96)Cct>Act p.P32T GPR63_ENST00000417980.1_Missense_Mutation_p.P32T NM_001143957.2|NM_030784.3 NP_001137429.1|NP_110411.1 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 32 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding p.P32T(1) kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) AATGGTGGAGGGAGTGTAATA 0.458000 10 90 9.70103e-10 1.48148e-09 0.008291 1 0 GPC3 2719 broad.mit.edu 37 X 133087218 133087218 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:133087218G>T ENST00000370818.3 - 2 641 c.196C>A c.(196-198)Ctc>Atc p.L66I GPC3_ENST00000543339.1_Intron|GPC3_ENST00000394299.2_Missense_Mutation_p.L66I NM_001164618.1|NM_004484.3 NP_001158090.1|NP_004475.1 P51654 GPC3_HUMAN glypican 3 66 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity p.L66I(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2) 36 Acute lymphoblastic leukemia(192;0.000127) CCCTTAGGGAGACATACTTGC 0.468000 """T, D, Mis, N, F, S""" Wilms tumour Simpson-Golabi-Behmel syndrome 57 66 1.67886e-27 3.24059e-27 0.003610 1 0 PPAP2C 8612 broad.mit.edu 37 19 288086 288086 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:288086G>A ENST00000269812.3 - 2 187 c.138C>T c.(136-138)ccC>ccT p.P46P PPAP2C_ENST00000434325.2_5'UTR|PPAP2C_ENST00000327790.3_Silent_p.P67P NM_003712.2|NM_177526.1 NP_003703.1|NP_803545.1 O43688 LPP2_HUMAN phosphatidic acid phosphatase type 2C 46 sphingolipid metabolic process integral to membrane|plasma membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity p.P67P(1)|p.P46P(1) breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1) 5 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGGACGGTAGGGGTACCGGA 0.612000 7 97 0 0 0.006214 0 0 GRM7 2917 broad.mit.edu 37 3 7621006 7621006 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:7621006A>G ENST00000486284.1 + 8 2687 c.2413A>G c.(2413-2415)Att>Gtt p.I805V GRM7_ENST00000357716.4_Missense_Mutation_p.I805V|GRM7_ENST00000402647.2_Missense_Mutation_p.I805V|GRM7_ENST00000403881.1_Missense_Mutation_p.I805V|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.I805V NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 805 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding p.I805V(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GCTTGCCTTCATTCCAATTTT 0.383000 4 39 0 0 0.000602 0 0 EPDR1 54749 broad.mit.edu 37 7 37960403 37960403 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:37960403G>A ENST00000559325.1 + 1 241 c.222G>A c.(220-222)ccG>ccA p.P74P EPDR1_ENST00000423717.1_5'UTR|EPDR1_ENST00000199448.4_5'UTR|EPDR1_ENST00000476620.1_Intron Q9UM22 EPDR1_HUMAN ependymin related 1 0 cell-matrix adhesion extracellular region calcium ion binding p.P74P(1) breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 AGAGGCCACCGAAGGGACAGG 0.672000 28 75 0 0 0.006320 0 0 EPHA3 2042 broad.mit.edu 37 3 89390124 89390124 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:89390124G>T ENST00000336596.2 + 4 1098 c.873G>T c.(871-873)ccG>ccT p.P291P EPHA3_ENST00000452448.2_Silent_p.P291P|EPHA3_ENST00000494014.1_Silent_p.P291P NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 291 Cys-rich. extracellular region|integral to plasma membrane ATP binding p.P291P(4) NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CTAAGTGCCCGCCTCACAGTT 0.438000 TSP Lung(6;0.00050) 10 145 6.40141e-05 7.95385e-05 0.000978 1 0 GPR83 10888 broad.mit.edu 37 11 94134282 94134282 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:94134282C>A ENST00000243673.2 - 1 303 c.132G>T c.(130-132)tgG>tgT p.W44C GPR83_ENST00000539203.2_Missense_Mutation_p.W44C NM_016540.3 NP_057624.3 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 44 integral to membrane|plasma membrane neuropeptide Y receptor activity p.W44C(1) NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TGTAGTTGTTCCAAGAGAAGA 0.652000 11 59 0.000978159 0.00115569 0.000978 1 0 ZFP41 286128 broad.mit.edu 37 8 144332450 144332450 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:144332450G>T ENST00000330701.4 + 2 806 c.437G>T c.(436-438)gGg>gTg p.G146V ZFP41_ENST00000520584.1_Missense_Mutation_p.G146V|ZFP41_ENST00000522452.1_Missense_Mutation_p.G146V NM_173832.3 NP_776193.1 Q8N8Y5 ZFP41_HUMAN ZFP41 zinc finger protein 146 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G146V(1) breast(1)|endometrium(2)|lung(4)|ovary(1) 8 all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) TTCAAATGCGGGGAGTGCGGG 0.582000 35 82 6.53348e-20 1.19182e-19 0.003755 1 0 FAM49A 81553 broad.mit.edu 37 2 16745340 16745340 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:16745340A>G ENST00000381323.3 - 5 435 c.215T>C c.(214-216)aTt>aCt p.I72T FAM49A_ENST00000355549.2_Missense_Mutation_p.I72T|FAM49A_ENST00000406434.1_Missense_Mutation_p.I72T NM_030797.3 NP_110424.1 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 72 intracellular p.I72T(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) TTGAAGCTGAATGTCATTGGG 0.378000 5 45 0 0 0.000602 0 0 PCDH17 27253 broad.mit.edu 37 13 58240910 58240910 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:58240910G>A ENST00000377918.3 + 3 2766 c.2740G>A c.(2740-2742)Gtt>Att p.V914I NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 914 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding p.V914I(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TGACATGTCTGTTAGGGAGGC 0.483000 9 41 0 0 0.006214 0 0 BRINP2 57795 broad.mit.edu 37 1 177250431 177250431 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:177250431C>A ENST00000361539.4 + 8 2431 c.2119C>A c.(2119-2121)Cca>Aca p.P707T FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 707 extracellular region p.P707R(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 GTTGGACTACCCATATACTCA 0.502000 55 159 1.08241e-25 2.07004e-25 0.003610 1 0 STX4 6810 broad.mit.edu 37 16 31046343 31046343 + Silent SNP A A C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:31046343A>C ENST00000394998.1 + 6 697 c.354A>C c.(352-354)acA>acC p.T118T STX4_ENST00000313843.3_Silent_p.T120T|STX4_ENST00000493902.1_3'UTR NM_001272096.1 NP_001259025.1 Q12846 STX4_HUMAN syntaxin 4 120 intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole SNAP receptor activity p.T120T(1) NS(2)|breast(1)|large_intestine(3)|lung(3) 9 CCGTCAACACAAGAATGAGAA 0.443000 8 98 0 0 0.003080 0 0 TRAM1L1 133022 broad.mit.edu 37 4 118006189 118006189 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:118006189C>G ENST00000310754.4 - 1 547 c.361G>C c.(361-363)Gag>Cag p.E121Q NM_152402.2 NP_689615.2 Q8N609 TR1L1_HUMAN translocation associated membrane protein 1-like 1 121 TLC. protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane p.E121Q(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 TGACCAGACTCGTTAAACTTG 0.368000 8 61 0 0 0.004482 0 0 EGFR 1956 broad.mit.edu 37 7 55224350 55224350 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:55224350G>T ENST00000275493.2 + 9 1308 c.1131G>T c.(1129-1131)agG>agT p.R377S EGFR_ENST00000442591.1_Missense_Mutation_p.R377S|EGFR_ENST00000342916.3_Missense_Mutation_p.R377S|EGFR_ENST00000344576.2_Missense_Mutation_p.R377S|EGFR_ENST00000420316.2_Missense_Mutation_p.R377S|EGFR_ENST00000454757.2_Missense_Mutation_p.R324S|EGFR_ENST00000455089.1_Missense_Mutation_p.R332S NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 377 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.R377S(2) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TGGCATTTAGGGGGTGAGTCA 0.398000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 33 70 1.26612e-14 2.16899e-14 0.003271 1 0 C8orf37 157657 broad.mit.edu 37 8 96281413 96281413 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:96281413G>A ENST00000286688.5 - 1 16 c.5C>T c.(4-6)gCg>gTg p.A2V KB-1047C11.2_ENST00000521905.1_lincRNA NM_177965.3 NP_808880.1 Q96NL8 CH037_HUMAN chromosome 8 open reading frame 37 2 p.A2V(1) kidney(1)|large_intestine(1)|lung(5) 7 Breast(36;3.41e-05) CAGGTCCTCCGCCATCTTGAA 0.612000 OREG0018873 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 140 0 0 0.003163 0 0 AMER3 205147 broad.mit.edu 37 2 131521368 131521368 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:131521368A>T ENST00000423981.1 + 2 1833 c.1723A>T c.(1723-1725)Aca>Tca p.T575S AMER3_ENST00000321420.4_Missense_Mutation_p.T575S NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 p.T575S(1) CCCGGGCACCACAGGCCTGCT 0.672000 19 28 0 0 0.006122 0 0 SVOP 55530 broad.mit.edu 37 12 109316512 109316512 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:109316512C>G ENST00000299134.5 - 10 913 c.914G>C c.(913-915)aGg>aCg p.R305T NM_018711.2 NP_061181.1 Q8N4V2 SVOP_HUMAN SV2 related protein homolog (rat) 0 cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity breast(2)|lung(4) 6 TGTAATCCTCCTCACTCAGGT 0.547000 4 4 0 0 0.000602 0 0 ABHD17A 81926 broad.mit.edu 37 19 1881444 1881444 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:1881444G>A ENST00000292577.7 - 2 555 c.122C>T c.(121-123)cCc>cTc p.P41L ABHD17A_ENST00000250974.9_Missense_Mutation_p.P41L|ABHD17A_ENST00000590661.1_Missense_Mutation_p.P41L NM_001130111.1 NP_001123583.1 abhydrolase domain containing 17A p.P41L(1) CCCCGGCTCGGGCTCAGGCAC 0.756000 7 50 0 0 0.006214 0 0 ARPP21 10777 broad.mit.edu 37 3 35724358 35724358 + Missense_Mutation SNP A A C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:35724358A>C ENST00000187397.4 + 4 604 c.148A>C c.(148-150)Aat>Cat p.N50H ARPP21_ENST00000428373.1_Missense_Mutation_p.N50H|ARPP21_ENST00000396482.2_Missense_Mutation_p.N50H|ARPP21_ENST00000436702.1_Missense_Mutation_p.N50H|ARPP21_ENST00000337271.5_Missense_Mutation_p.N50H|ARPP21_ENST00000417925.1_Missense_Mutation_p.N50H|ARPP21_ENST00000432682.1_Missense_Mutation_p.N50H|ARPP21_ENST00000444190.1_Missense_Mutation_p.N50H|ARPP21_ENST00000441454.1_Missense_Mutation_p.N50H|ARPP21_ENST00000412048.1_Missense_Mutation_p.N50H|ARPP21_ENST00000474696.1_Missense_Mutation_p.N50H|ARPP21_ENST00000458225.1_Missense_Mutation_p.N50H|ARPP21_ENST00000427542.1_Missense_Mutation_p.N50H|ARPP21_ENST00000438071.1_Missense_Mutation_p.N50H|ARPP21_ENST00000396481.2_Missense_Mutation_p.N50H NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 50 cytoplasm nucleic acid binding p.N50H(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 GGAGGCTCAGAATCAAGAAAG 0.338000 23 59 0 0 0.003330 0 0 LAMB3 3914 broad.mit.edu 37 1 209799050 209799050 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:209799050C>G ENST00000391911.1 - 13 2308 c.1919G>C c.(1918-1920)aGc>aCc p.S640T LAMB3_ENST00000356082.4_Missense_Mutation_p.S640T|LAMB3_ENST00000367030.3_Missense_Mutation_p.S640T NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 640 Domain II. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity p.S640T(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GACTGCGGGGCTGCTGAGAAC 0.592000 56 87 0 0 0.003610 0 0 NTRK1 4914 broad.mit.edu 37 1 156846197 156846197 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:156846197G>A ENST00000368196.3 + 13 1740 c.1620G>A c.(1618-1620)ctG>ctA p.L540L NTRK1_ENST00000524377.1_Silent_p.L546L|NTRK1_ENST00000392302.2_Silent_p.L510L|NTRK1_ENST00000358660.3_Silent_p.L543L NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 546 Protein kinase. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity p.L546L(1)|p.L510L(1) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) TCCAGGCACTGAAGGAGGCGT 0.652000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 12 30 0 0 0.000978 0 0 FAT1 2195 broad.mit.edu 37 4 187527368 187527368 + Splice_Site SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:187527368C>G ENST00000441802.2 - 17 10416 c.e17-1 NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding p.?(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 AACCTGAAATCTTTTCAGGCA 0.507000 HNSCC(5;0.00058) 5 40 0 0 0.000602 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153274952 153274952 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:153274952G>T ENST00000290722.1 - 5 713 c.661C>A c.(661-663)Cag>Aag p.Q221K NM_052891.1 NP_443123.1 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 221 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding p.Q221K(1) breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ACGACAGTCTGGCAGTCTGTG 0.478000 38 244 5.71845e-15 9.8676e-15 0.005524 1 0 THBS3 7059 broad.mit.edu 37 1 155165670 155165670 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:155165670C>G ENST00000368378.3 - 23 2853 c.2833G>C c.(2833-2835)Gag>Cag p.E945Q THBS3_ENST00000541990.1_Missense_Mutation_p.E474Q|THBS3_ENST00000541576.1_Missense_Mutation_p.E342Q|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000457183.2_Missense_Mutation_p.E825Q NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 945 cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity p.E945Q(1) breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CGGAATGGCTCAAAGTCCTCA 0.522000 12 206 0 0 0.002450 0 0 CADPS 8618 broad.mit.edu 37 3 62478012 62478012 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:62478012T>A ENST00000383710.4 - 20 3186 c.2837A>T c.(2836-2838)gAc>gTc p.D946V CADPS_ENST00000283269.9_Missense_Mutation_p.D956V|CADPS_ENST00000357948.3_Missense_Mutation_p.D916V NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 946 Interaction with DRD2.|MHD1. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding p.D946V(1)|p.D956V(1) breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) TGGAAAACTGTCCCATGTGTC 0.448000 102 257 0 0 0.003610 0 0 ZNF804B 219578 broad.mit.edu 37 7 88965846 88965846 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:88965846G>T ENST00000333190.4 + 4 4159 c.3550G>T c.(3550-3552)Gca>Tca p.A1184S NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1184 intracellular zinc ion binding p.A1184S(1) NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TTTGCCTGCTGCAGGGCCTAC 0.488000 HNSCC(36;0.09) 23 78 5.26018e-13 8.66259e-13 0.001882 1 0 CACNB2 783 broad.mit.edu 37 10 18439905 18439905 + Splice_Site SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:18439905G>T ENST00000282343.8 + 2 351 c.e2+1 CACNB2_ENST00000467034.1_Splice_Site|CACNB2_ENST00000377331.2_Splice_Site|CACNB2_ENST00000377328.1_Splice_Site|CACNB2_ENST00000324631.7_Splice_Site|CACNB2_ENST00000352115.6_Splice_Site NM_001167945.1|NM_201571.3 NP_001161417.1|NP_963865.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity p.?(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGTTCGCCAGGTAAGAGTTTT 0.328000 32 109 1.62565e-12 2.64307e-12 0.002445 1 0 SRCAP 10847 broad.mit.edu 37 16 30748500 30748500 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:30748500G>T ENST00000262518.4 + 34 7524 c.7139G>T c.(7138-7140)cGg>cTg p.R2380L SRCAP_ENST00000395059.2_Missense_Mutation_p.R2318L|SRCAP_ENST00000344771.4_Missense_Mutation_p.R2222L NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2380 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity p.R2380L(1) NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GGCACCCACCGGCGCAGTAAA 0.647000 5 21 1.23904e-05 1.58704e-05 0.000602 1 0 NAGLU 4669 broad.mit.edu 37 17 40695601 40695601 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:40695601A>G ENST00000225927.2 + 6 1678 c.1577A>G c.(1576-1578)aAt>aGt p.N526S RP11-400F19.8_ENST00000585572.1_RNA NM_000263.3 NP_000254.2 P54802 ANAG_HUMAN N-acetylglucosaminidase, alpha 526 lysosome alpha-N-acetylglucosaminidase activity p.N526S(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1) 12 all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) N-Acetyl-D-glucosamine(DB00141) CTACAGATGAATACCAGCATC 0.637000 7 26 0 0 0.001984 0 0 KMT2C 58508 broad.mit.edu 37 7 151932901 151932901 + Splice_Site SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:151932901C>A ENST00000355193.2 - 16 2988 c.e16+1 KMT2C_ENST00000262189.6_Splice_Site lysine (K)-specific methyltransferase 2C GCAAGCCTCACCCCAGGTAAT 0.443000 12 114 0.000308642 0.000371534 0.003163 1 0 DMP1 1758 broad.mit.edu 37 4 88583892 88583892 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:88583892G>T ENST00000339673.6 + 6 1061 c.962G>T c.(961-963)aGc>aTc p.S321I RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.S305I|RP11-742B18.1_ENST00000507894.1_RNA NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 321 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding p.S321I(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) CAAGAAGACAGCAAGGAGAAT 0.517000 7 64 8.12818e-05 0.000100244 0.001984 1 0 CLEC3A 10143 broad.mit.edu 37 16 78064691 78064691 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:78064691T>C ENST00000299642.4 + 3 659 c.574T>C c.(574-576)Tgt>Cgt p.C192R RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Missense_Mutation_p.C183R|CLEC3A_ENST00000565808.1_3'UTR NM_001244755.1 NP_001231684.1 O75596 CLC3A_HUMAN C-type lectin domain family 3, member A 183 C-type lectin. skeletal system development extracellular region sugar binding p.C183R(1) NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 18 TGATGAGGCCTGTCGCAGCAG 0.498000 11 77 0 0 0.001855 0 0 KIF5A 3798 broad.mit.edu 37 12 57970090 57970090 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:57970090C>A ENST00000455537.2 + 19 2401 c.2127C>A c.(2125-2127)gcC>gcA p.A709A KIF5A_ENST00000286452.5_Silent_p.A620A NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 709 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity p.A709A(1) breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 ACCGGGAGGCCCATCACCGGC 0.607000 31 55 6.04164e-23 1.12941e-22 0.002096 1 0 HHLA2 11148 broad.mit.edu 37 3 108095392 108095392 + Silent SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:108095392C>G ENST00000357759.5 + 9 1626 c.1212C>G c.(1210-1212)ggC>ggG p.G404G HHLA2_ENST00000489514.2_Silent_p.G404G|HHLA2_ENST00000467562.1_Silent_p.G340G|HHLA2_ENST00000491820.1_Silent_p.G387G|HHLA2_ENST00000467761.1_Silent_p.G404G NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 404 integral to membrane p.G404G(2) endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 CCGATAATGGCGAAGAAAATG 0.363000 10 33 0 0 0.006214 0 0 RAET1E 135250 broad.mit.edu 37 6 150210584 150210584 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:150210584G>C ENST00000532335.1 - 4 868 c.522C>G c.(520-522)gaC>gaG p.D174E RAET1E_ENST00000367363.3_Missense_Mutation_p.D138E|RAET1E_ENST00000357183.4_Missense_Mutation_p.D174E|RP11-244K5.1_ENST00000605899.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000529948.1_Missense_Mutation_p.D174E NM_001243328.1 NP_001230257.1 Q8TD07 N2DL4_HUMAN retinoic acid early transcript 1E 174 MHC class I alpha-2 like. antigen processing and presentation|immune response|regulation of immune response integral to membrane|MHC class I protein complex protein binding p.D174E(1) cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1) 10 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) CCAGCCCTCTGTCTTTCTTCC 0.483000 9 117 0 0 0.006214 0 0 NCAM2 4685 broad.mit.edu 37 21 22881254 22881254 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr21:22881254C>T ENST00000400546.1 + 16 2409 c.2160C>T c.(2158-2160)gaC>gaT p.D720D NCAM2_ENST00000284894.7_Silent_p.D578D NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 720 neuron cell-cell adhesion integral to membrane|plasma membrane p.D720D(1) breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TGGTAACAGACGTCAGCTGCT 0.443000 23 60 0 0 0.002780 0 0 DLL1 28514 broad.mit.edu 37 6 170592564 170592564 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:170592564G>A ENST00000366756.3 - 9 2136 c.1803C>T c.(1801-1803)gaC>gaT p.D601D NM_005618.3 NP_005609.3 O00548 DLL1_HUMAN delta-like 1 (Drosophila) 601 cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding p.D601D(1) NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 33 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) TGACTGAGATGTCCTTCTCAC 0.637000 11 110 0 0 0.002450 0 0 DYNLRB2 83657 broad.mit.edu 37 16 80583453 80583453 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:80583453T>C ENST00000305904.6 + 3 272 c.152T>C c.(151-153)aTg>aCg p.M51T RP11-109P11.1_ENST00000568275.1_RNA|DYNLRB2_ENST00000570222.1_3'UTR|DYNLRB2_ENST00000568035.1_Intron|RP11-525K10.3_ENST00000568776.1_RNA|DYNLRB2_ENST00000562982.1_Missense_Mutation_p.M80T NM_130897.1 NP_570967.1 Q8TF09 DLRB2_HUMAN dynein, light chain, roadblock-type 2 51 microtubule-based movement|transport cytoplasmic dynein complex|microtubule microtubule motor activity p.M51T(1) large_intestine(1)|lung(4)|prostate(1) 6 CACCTGACAATGAAAGCCAAA 0.378000 4 44 0 0 0.000602 0 0 POFUT2 23275 broad.mit.edu 37 21 46689913 46689913 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr21:46689913C>A ENST00000331343.7 - 7 879 c.853G>T c.(853-855)Ggg>Tgg p.G285W POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000349485.5_Missense_Mutation_p.G285W NM_015227.4 NP_056042.1 Q9Y2G5 OFUT2_HUMAN protein O-fucosyltransferase 2 285 fucose metabolic process endoplasmic reticulum peptide-O-fucosyltransferase activity p.G285W(2)|p.G285R(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(79;0.243) TAGGGGCCCCCTAGCGCGGAG 0.602000 8 48 0.00448238 0.00518158 0.004482 1 0 PSG8 440533 broad.mit.edu 37 19 43268342 43268342 + Silent SNP A A C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:43268342A>C ENST00000404209.4 - 2 252 c.156T>G c.(154-156)ctT>ctG p.L52L PSG8_ENST00000401467.2_Silent_p.L52L|PSG8_ENST00000306511.4_Silent_p.L52L|PSG8_ENST00000406636.3_Intron NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 52 Ig-like V-type. extracellular region p.L52L(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GGACAAGTAGAAGAACATCCT 0.463000 25 342 0 0 0.003330 0 0 PCLO 27445 broad.mit.edu 37 7 82585749 82585749 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:82585749C>T ENST00000423517.2 - 5 4857 c.4520G>A c.(4519-4521)aGa>aAa p.R1507K PCLO_ENST00000333891.8_Missense_Mutation_p.R1507K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1438 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.R1507K(2)|p.R1438K(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATAAGGCTCTCTTCTAGTAGT 0.383000 6 101 0 0 0.003080 0 0 IL7R 3575 broad.mit.edu 37 5 35876290 35876290 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:35876290T>A ENST00000303115.3 + 8 1211 c.1082T>A c.(1081-1083)tTt>tAt p.F361Y IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 361 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity p.F361Y(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) CCAGAAAGCTTTGGAAGAGAT 0.532000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 16 66 0 0 0.004007 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85626515 85626515 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:85626515G>A ENST00000393217.2 + 26 5058 c.4997G>A c.(4996-4998)gGt>gAt p.G1666D LRRIQ1_ENST00000528777.3_3'UTR NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1666 p.G1666D(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) GTACTTAATGGTGGAAGAGTT 0.318000 7 45 0 0 0.004482 0 0 TRPM6 140803 broad.mit.edu 37 9 77442833 77442833 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:77442833G>T ENST00000451710.3 - 7 939 c.702C>A c.(700-702)ccC>ccA p.P234P TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000359047.2_Silent_p.P234P|TRPM6_ENST00000360774.1_Silent_p.P234P|TRPM6_ENST00000376872.3_Silent_p.P234P|TRPM6_ENST00000376864.4_Silent_p.P234P|TRPM6_ENST00000376871.3_Silent_p.P234P|TRPM6_ENST00000449912.2_Silent_p.P229P|TRPM6_ENST00000361255.3_Silent_p.P229P Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 234 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity p.P234P(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GCTTGCTGAGGGGGTTATCCA 0.532000 10 116 1.58986e-06 2.1318e-06 0.008291 1 0 AMELX 265 broad.mit.edu 37 X 11316996 11316996 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:11316996T>A ENST00000380712.3 + 6 583 c.515T>A c.(514-516)cTg>cAg p.L172Q ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000413512.3_Intron|AMELX_ENST00000380714.3_Missense_Mutation_p.L158Q|ARHGAP6_ENST00000380718.1_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.L142Q NM_182680.1 NP_872621.1 Q99217 AMELX_HUMAN amelogenin, X-linked 158 cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction proteinaceous extracellular matrix cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel p.L172Q(1) endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 15 CAGCCACCTCTGCCTCCGATG 0.642000 9 3 0 0 0.004482 0 0 TEX15 56154 broad.mit.edu 37 8 30705979 30705979 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:30705979G>T ENST00000256246.2 - 1 629 c.555C>A c.(553-555)tcC>tcA p.S185S NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 185 p.S185S(1) NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AAGCATTACCGGACTCCTGTT 0.413000 4 55 2.56e-06 3.39425e-06 0.000248 1 0 ZFAT 57623 broad.mit.edu 37 8 135524846 135524846 + Splice_Site SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:135524846T>C ENST00000520727.1 - 15 3498 c.e15-2 ZFAT_ENST00000377838.3_Splice_Site|ZFAT_ENST00000517307.1_Splice_Site|ZFAT_ENST00000429442.2_Splice_Site|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000520214.1_Splice_Site|ZFAT_ENST00000523399.1_Splice_Site NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding p.?(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) TGTTGCTGTCTAAATAAAAAC 0.468000 7 135 0 0 0.001984 0 0 SEL1L3 23231 broad.mit.edu 37 4 25780789 25780789 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:25780789C>A ENST00000399878.3 - 16 2616 c.2494G>T c.(2494-2496)Ggt>Tgt p.G832C SEL1L3_ENST00000502949.1_Missense_Mutation_p.G679C|SEL1L3_ENST00000264868.5_Missense_Mutation_p.G797C NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 832 integral to membrane binding p.G679C(1)|p.G832C(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 ATGTGTCCACCTTGCGCAGCC 0.473000 14 95 1.3612e-06 1.83409e-06 0.003163 1 0 FAM83H 286077 broad.mit.edu 37 8 144810181 144810181 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:144810181C>G ENST00000388913.3 - 5 1575 c.1450G>C c.(1450-1452)Gcg>Ccg p.A484P NM_198488.3 NP_940890.3 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 484 biomineral tissue development p.A484P(1) central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TCCGGGTCCGCGAAACCCGCG 0.731000 10 15 0 0 0.008291 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000428082.2_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 7 85 0 0 0.001984 0 0 C16orf78 123970 broad.mit.edu 37 16 49407973 49407973 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:49407973G>T ENST00000299191.3 + 1 240 c.123G>T c.(121-123)agG>agT p.R41S NM_144602.2 NP_653203.1 Q8WTQ4 CP078_HUMAN chromosome 16 open reading frame 78 41 p.R41S(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 TGGAGCGGAGGCAGGGGAAGA 0.502000 15 82 4.14922e-12 6.69359e-12 0.004007 1 0 ABCC9 10060 broad.mit.edu 37 12 22012543 22012543 + Nonsense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:22012543G>A ENST00000261200.4 - 20 2481 c.2482C>T c.(2482-2484)Caa>Taa p.Q828* ABCC9_ENST00000261201.4_Nonsense_Mutation_p.Q828*|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Nonsense_Mutation_p.Q792* NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 828 ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity p.Q828*(2) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTGGTGTTTTGATACAGCGCT 0.408000 26 286 0 0 0.001786 0 0 ATAD3C 219293 broad.mit.edu 37 1 1387814 1387814 + Splice_Site SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:1387814G>T ENST00000378785.2 + 3 1217 c.222_splice c.e3+1 p.T74_splice NM_001039211.2 NP_001034300.2 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C 74 ATP binding|nucleoside-triphosphatase activity p.T74T(1) autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) TGACAGCCACGGTAAACATAC 0.602000 21 63 3.62473e-10 5.60247e-10 0.001882 1 0 ATP2C1 27032 broad.mit.edu 37 3 130678149 130678149 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:130678149G>T ENST00000510168.1 + 12 1413 c.863G>T c.(862-864)gGa>gTa p.G288V ATP2C1_ENST00000393221.4_Missense_Mutation_p.G322V|ATP2C1_ENST00000504948.1_Missense_Mutation_p.G272V|ATP2C1_ENST00000508532.1_Missense_Mutation_p.G288V|ATP2C1_ENST00000504381.1_Missense_Mutation_p.G233V|ATP2C1_ENST00000507488.2_Missense_Mutation_p.G272V|ATP2C1_ENST00000359644.3_Missense_Mutation_p.G288V|ATP2C1_ENST00000328560.8_Missense_Mutation_p.G288V|ATP2C1_ENST00000422190.2_Missense_Mutation_p.G288V|ATP2C1_ENST00000428331.2_Missense_Mutation_p.G288V|ATP2C1_ENST00000513801.1_Missense_Mutation_p.G272V|ATP2C1_ENST00000533801.2_Missense_Mutation_p.G283V|ATP2C1_ENST00000505330.1_Missense_Mutation_p.G272V P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 288 actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity p.G288V(1) breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) TGGTTACTGGGAAAAGATATC 0.333000 Hailey-Hailey disease 9 34 0.000978159 0.00115569 0.000978 1 0 OR5F1 338674 broad.mit.edu 37 11 55761205 55761205 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:55761205C>A ENST00000278409.1 - 1 896 c.897G>T c.(895-897)aaG>aaT p.K299N NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K299N(1) endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) TCGCTAAAGCCTTCTTTACTT 0.398000 20 61 8.10497e-08 1.14895e-07 0.001523 1 0 BID 637 broad.mit.edu 37 22 18226769 18226769 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:18226769C>T ENST00000317361.7 - 3 487 c.161G>A c.(160-162)gGt>gAt p.G54D BID_ENST00000551952.1_Missense_Mutation_p.G8D|BID_ENST00000399774.3_Missense_Mutation_p.G8D|BID_ENST00000399767.1_5'UTR|BID_ENST00000342111.5_Missense_Mutation_p.G8D|BID_ENST00000473439.1_5'UTR|BID_ENST00000399765.1_Intron NM_197966.2 NP_932070.1 P55957 BID_HUMAN BH3 interacting domain death agonist 8 activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria cytosol|membrane fraction|mitochondrial outer membrane death receptor binding p.G54D(1) large_intestine(2)|ovary(1) 3 all_epithelial(15;0.198) Lung(27;0.0419) GAGGCTGGAACCGTTGTTGAC 0.587000 11 109 0 0 0.001368 0 0 ANKRD35 148741 broad.mit.edu 37 1 145558896 145558896 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:145558896T>A ENST00000355594.4 + 7 602 c.515T>A c.(514-516)cTg>cAg p.L172Q ANKRD35_ENST00000544626.1_3'UTR NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 172 p.L172Q(1) NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGCTCACAGCTGCTGCAGCGA 0.547000 28 139 0 0 0.002096 0 0 FBLN1 2192 broad.mit.edu 37 22 45996263 45996263 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:45996263G>T ENST00000348697.2 + 20 2196 c.2049G>T c.(2047-2049)ggG>ggT p.G683G FBLN1_ENST00000327858.6_Silent_p.G683G P23142 FBLN1_HUMAN fibulin 1 683 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding p.G683G(1) biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) ATGTGGTCGGGGGCGTGGTCT 0.612000 15 323 6.31663e-08 8.98509e-08 0.003163 1 0 ICA1 3382 broad.mit.edu 37 7 8183563 8183563 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:8183563C>T ENST00000402384.3 - 9 1110 c.844G>A c.(844-846)Gag>Aag p.E282K ICA1_ENST00000422063.2_Missense_Mutation_p.E282K|ICA1_ENST00000265577.7_Missense_Mutation_p.E281K|ICA1_ENST00000401396.1_Missense_Mutation_p.E270K|ICA1_ENST00000396675.3_Missense_Mutation_p.E282K|ICA1_ENST00000406470.2_Missense_Mutation_p.E282K Q05084 ICA69_HUMAN islet cell autoantigen 1, 69kDa 282 neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane p.E282K(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 23 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) TTCTTCTTCTCTTCTTTCTCA 0.403000 18 40 0 0 0.001523 0 0 SVILP1 645954 broad.mit.edu 37 10 30984967 30984967 + RNA SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:30984967G>T ENST00000435645.1 + 0 255 TAACAACAGCGCCGTGCCCTT 0.537000 8 17 1.12685e-05 1.45231e-05 0.004482 1 0 PPP1R15B 84919 broad.mit.edu 37 1 204379011 204379011 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:204379011G>A ENST00000367188.4 - 1 1908 c.1529C>T c.(1528-1530)tCa>tTa p.S510L RP11-739N20.2_ENST00000443515.1_RNA NM_032833.3 NP_116222.3 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 510 regulation of translation p.S510L(1) breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3) 34 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) ATCCTTCTCTGAATCAGAAGG 0.468000 9 91 0 0 0.006214 0 0 BARHL2 343472 broad.mit.edu 37 1 91178042 91178042 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:91178042C>A ENST00000370445.4 - 3 1032 c.991G>T c.(991-993)Gcg>Tcg p.A331S NM_020063.1 NP_064447.1 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 331 nucleus sequence-specific DNA binding p.A331S(1) cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) GCAGCCGCCGCCGCCGTAGTG 0.652000 6 20 3.59834e-05 4.50131e-05 0.001168 1 0 ZEB2 9839 broad.mit.edu 37 2 145156855 145156855 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:145156855G>T ENST00000558170.2 - 8 3083 c.1899C>A c.(1897-1899)gcC>gcA p.A633A ZEB2_ENST00000303660.4_Silent_p.A633A|ZEB2_ENST00000539609.3_Silent_p.A609A|ZEB2_ENST00000409487.3_Silent_p.A633A NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 633 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding p.A633A(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) ACAAGAGGAGGGCTTTATTAT 0.428000 6 79 3.59834e-05 4.50131e-05 0.001168 1 0 MUC17 140453 broad.mit.edu 37 7 100679784 100679784 + Missense_Mutation SNP C C A rs146239691 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:100679784C>A ENST00000306151.4 + 3 5151 c.5087C>A c.(5086-5088)aCt>aAt p.T1696N NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1696 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.T1696N(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACAAGTATAACTGTCAGAACA 0.473000 119 235 9.55279e-52 1.91981e-51 0.003610 1 0 CDH11 1009 broad.mit.edu 37 16 64982668 64982668 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:64982668G>T ENST00000394156.3 - 13 2370 c.1917C>A c.(1915-1917)ccC>ccA p.P639P CDH11_ENST00000268603.4_Intron|CDH11_ENST00000566827.1_Intron P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 0 adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) TGGGAGAGGGGGGTTCCATTA 0.438000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 3 10 3.59834e-05 4.50131e-05 0.001168 1 0 SLITRK1 114798 broad.mit.edu 37 13 84454951 84454951 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:84454951G>T ENST00000377084.2 - 1 1577 c.692C>A c.(691-693)cCc>cAc p.P231H NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 231 LRRCT 1. integral to membrane p.P231Q(1) NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GGCATTCTTGGGAATGTTTTC 0.522000 14 63 1.3612e-06 1.83409e-06 0.003163 1 0 CHD3 1107 broad.mit.edu 37 17 7796813 7796813 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:7796813C>T ENST00000380358.4 + 5 897 c.896C>T c.(895-897)cCc>cTc p.P299L CHD3_ENST00000358181.4_Missense_Mutation_p.P240L|CHD3_ENST00000330494.7_Missense_Mutation_p.P240L NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 240 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding p.P240L(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) TCCGGACCCCCCGCCCTTCCA 0.637000 15 18 0 0 0.002450 0 0 IFNA8 3445 broad.mit.edu 37 9 21409265 21409265 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:21409265C>A ENST00000380205.1 + 1 120 c.90C>A c.(88-90)caC>caA p.H30Q NM_002170.3 NP_002161.2 P32881 IFNA8_HUMAN interferon, alpha 8 30 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding p.H30Q(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 9 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174) CTCAGACTCACAGCCTGGGTA 0.502000 12 189 0.000978159 0.00115569 0.000978 1 0 VEZT 55591 broad.mit.edu 37 12 95660205 95660205 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:95660205G>T ENST00000436874.1 + 5 612 c.507G>T c.(505-507)tgG>tgT p.W169C VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.W121C NM_017599.3 NP_060069.3 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane protein 169 W -> R (in Ref. 2; AAG38485). acrosomal vesicle|adherens junction|integral to membrane|nucleus p.W169F(2) endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 TGTCTTCCTGGCTGGTATGGG 0.423000 171 232 3.33666e-98 6.74648e-98 0.003610 1 0 AMY1B 277 broad.mit.edu 37 1 104234119 104234119 + Nonsense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:104234119C>T ENST00000330330.5 - 7 1286 c.992G>A c.(991-993)tGg>tAg p.W331* AMY1B_ENST00000370080.3_Nonsense_Mutation_p.W331* NM_001008218.1 NP_001008219.1 P04745 AMY1_HUMAN amylase, alpha 1B (salivary) 331 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding|protein binding p.W331*(1) large_intestine(1)|lung(1) 2 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) CCTAGCATCCCAGAAGGTAAG 0.383000 50 201 0 0 0.003610 0 0 PCNXL2 80003 broad.mit.edu 37 1 233296138 233296138 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:233296138C>A ENST00000258229.8 - 19 3642 c.3408G>T c.(3406-3408)gtG>gtT p.V1136V PCNXL2_ENST00000488780.2_Silent_p.V269V|PCNXL2_ENST00000520463.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1136 integral to membrane p.G1137W(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) TTACAAACCCCACGGCTCCAG 0.502000 15 60 0.00400662 0.00466082 0.004007 1 0 PI4KA 5297 broad.mit.edu 37 22 21152932 21152932 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:21152932C>A ENST00000255882.6 - 17 2134 c.2048G>T c.(2047-2049)aGt>aTt p.S683I PI4KA_ENST00000572273.1_Missense_Mutation_p.S625I NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 625 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding p.S625I(2) breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GGCCTTCACACTGATCTGCTG 0.488000 28 126 6.07407e-21 1.11661e-20 0.007291 1 0 VWA3A 146177 broad.mit.edu 37 16 22152985 22152985 + Silent SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:22152985G>C ENST00000389398.5 + 24 2562 c.2466G>C c.(2464-2466)ctG>ctC p.L822L VWA3A_ENST00000389397.4_5'UTR NM_173615.3 NP_775886.3 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 822 extracellular region p.L18L(1)|p.L822L(1) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) CTCTTTTACTGTTCTACACAG 0.537000 5 18 0 0 0.000602 0 0 RXFP1 59350 broad.mit.edu 37 4 159568212 159568212 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:159568212G>A ENST00000307765.5 + 16 1866 c.1615G>A c.(1615-1617)Ggt>Agt p.G539S RXFP1_ENST00000343542.5_Missense_Mutation_p.G491S|RXFP1_ENST00000448688.2_Missense_Mutation_p.G434S|RXFP1_ENST00000470033.1_Missense_Mutation_p.G506S|RXFP1_ENST00000460056.2_Missense_Mutation_p.G458S NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 539 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding p.G539S(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) TTGGATTACTGGTTTTATAGT 0.358000 11 59 0 0 0.008291 0 0 PKD1L1 168507 broad.mit.edu 37 7 47944149 47944149 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:47944149C>A ENST00000289672.2 - 12 1807 c.1757G>T c.(1756-1758)aGg>aTg p.R586M NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 586 PKD 1. cell-cell adhesion integral to membrane p.R586M(1) BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CTTCTGCACCCTGATGACATG 0.547000 6 47 1.06961e-07 1.50599e-07 0.003080 1 0 KIAA1614 57710 broad.mit.edu 37 1 180885948 180885948 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:180885948A>T ENST00000367588.4 + 2 764 c.709A>T c.(709-711)Agg>Tgg p.R237W NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 237 p.R237W(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 TCCCAGCCCAAGGACAGGAAG 0.582000 83 167 0 0 0.003610 0 0 CDH19 28513 broad.mit.edu 37 18 64178885 64178885 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr18:64178885G>T ENST00000262150.2 - 10 1788 c.1496C>A c.(1495-1497)tCc>tAc p.S499Y CDH19_ENST00000540086.1_Intron NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 499 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S499Y(1) NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) CTCTTCTATGGATTCATCTCT 0.333000 19 53 1.67942e-08 2.45408e-08 0.006122 1 0 RHNO1 83695 broad.mit.edu 37 12 2997093 2997093 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:2997093A>T ENST00000489288.2 + 3 337 c.185A>T c.(184-186)gAt>gTt p.D62V RHNO1_ENST00000461997.2_Missense_Mutation_p.D48V|RHNO1_ENST00000464682.2_3'UTR NM_001252499.2|NM_001257097.1|NM_001257098.1 NP_001239428.1|NP_001244026.1|NP_001244027.1 RAD9-HUS1-RAD1 interacting nuclear orphan 1 p.D62V(1) CCTGATTTTGATACAGCAGCA 0.418000 7 14 0 0 0.001984 0 0 SGOL2 151246 broad.mit.edu 37 2 201437779 201437779 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:201437779A>T ENST00000357799.4 + 7 2808 c.2710A>T c.(2710-2712)Aat>Tat p.N904Y NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 904 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding p.N904Y(1) NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 ATCAAAAATAAATAAGCTCAG 0.303000 12 195 0 0 0.000978 0 0 FAT3 120114 broad.mit.edu 37 11 92534273 92534273 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:92534273C>A ENST00000298047.6 + 9 8111 c.8094C>A c.(8092-8094)gtC>gtA p.V2698V FAT3_ENST00000409404.2_Silent_p.V2698V|FAT3_ENST00000525166.1_Silent_p.V2548V Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2698 Cadherin 24. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.V2698V(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATATCCACGTCTTGCCCCCTG 0.463000 TCGA Ovarian(4;0.039) 17 55 1.99824e-07 2.77347e-07 0.004990 1 0 HIST1H2AE 3012 broad.mit.edu 37 6 26217275 26217275 + Nonsense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:26217275C>T ENST00000303910.2 + 1 111 c.73C>T c.(73-75)Cag>Tag p.Q25* NM_021052.2 NP_066390.1 P04908 H2A1B_HUMAN histone cluster 1, H2ae 25 nucleosome assembly nucleosome|nucleus DNA binding p.Q25*(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 10 all_hematologic(11;0.196) GGCCGGTCTTCAGTTTCCAGT 0.577000 6 49 0 0 0.001168 0 0 SLC25A43 203427 broad.mit.edu 37 X 118544216 118544216 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:118544216G>T ENST00000217909.7 + 3 925 c.581G>T c.(580-582)gGa>gTa p.G194V SLC25A43_ENST00000336249.7_Intron|SLC25A43_ENST00000488158.1_3'UTR NM_145305.2 NP_660348.2 Q8WUT9 S2543_HUMAN solute carrier family 25, member 43 194 transmembrane transport integral to membrane|mitochondrial inner membrane binding p.G194V(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 9 ATCTGGAACGGACCCCGAGAT 0.527000 50 51 5.13769e-22 9.53978e-22 0.003610 1 0 BMPER 168667 broad.mit.edu 37 7 34014337 34014337 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:34014337T>C ENST00000297161.2 + 7 891 c.517T>C c.(517-519)Tat>Cat p.Y173H BMPER_ENST00000426693.1_Missense_Mutation_p.Y173H NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 173 VWFC 3. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space p.Y173H(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GGGTGTGCAGTATCAAGAAGG 0.483000 18 115 0 0 0.006122 0 0 EPB41L1 2036 broad.mit.edu 37 20 34797802 34797802 + Silent SNP G G T rs142392996 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:34797802G>T ENST00000338074.2 + 15 2222 c.2061G>T c.(2059-2061)ccG>ccT p.P687P EPB41L1_ENST00000441639.1_Silent_p.P613P|EPB41L1_ENST00000202028.5_Silent_p.P613P|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000373941.1_Silent_p.P687P|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373950.2_Silent_p.P578P NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 687 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity p.P687P(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) GCTCCACCCCGGATATGCCCC 0.657000 8 21 0.00448238 0.00518158 0.004482 1 0 MPHOSPH9 10198 broad.mit.edu 37 12 123679134 123679134 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:123679134T>A ENST00000606320.1 - 13 2246 c.2040A>T c.(2038-2040)gaA>gaT p.E680D MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.E528D|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.E528D|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.E650D Q99550 MPP9_HUMAN M-phase phosphoprotein 9 528 M phase of mitotic cell cycle centriole|Golgi membrane p.E528D(1) NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) CACTGAAGCGTTCTCTCAAAT 0.373000 12 23 0 0 0.002450 0 0 HDAC4 9759 broad.mit.edu 37 2 239990288 239990288 + Silent SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:239990288C>G ENST00000345617.3 - 23 3542 c.2751G>C c.(2749-2751)ccG>ccC p.P917P HDAC4_ENST00000543185.1_Silent_p.P501P NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 917 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding p.P917P(1) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) CGCTGGCGATCGGCATGACCA 0.612000 15 51 0 0 0.004007 0 0 SERPINB9 5272 broad.mit.edu 37 6 2900746 2900746 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:2900746T>C ENST00000380698.4 - 2 189 c.100A>G c.(100-102)Agc>Ggc p.S34G NM_004155.5 NP_004146.1 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 9 34 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity p.S34G(1) breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 15 Ovarian(93;0.0412) all_hematologic(90;0.108) GAGGAGATGCTCACAGGAGAA 0.522000 64 118 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179613326 179613326 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:179613326C>G ENST00000360870.5 - 46 14023 c.13801G>C c.(13801-13803)Gct>Cct p.A4601P TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 726 Ig-like 26. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTAAAATAAGCTTCTTCTGGT 0.348000 31 136 0 0 0.008361 0 0 NOTCH2 4853 broad.mit.edu 37 1 120461117 120461117 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:120461117G>A ENST00000256646.2 - 32 6060 c.5841C>T c.(5839-5841)ccC>ccT p.P1947P NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1947 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P1947P(1) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CCAGGATCAGGGGTGTAGTAC 0.502000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 14 62 0 0 0.001855 0 0 SLC4A10 57282 broad.mit.edu 37 2 162821590 162821590 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:162821590G>A ENST00000375514.5 + 23 3296 c.3009G>A c.(3007-3009)ttG>ttA p.L1003L SLC4A10_ENST00000272716.5_Silent_p.L992L|SLC4A10_ENST00000446997.1_Silent_p.L1022L|SLC4A10_ENST00000421911.1_Silent_p.L1022L|SLC4A10_ENST00000415876.2_Silent_p.L992L NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 1022 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity p.L992L(1)|p.L1022L(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TAAGAAAGTTGATGGACTTGT 0.378000 5 54 0 0 0.000602 0 0 ATP13A5 344905 broad.mit.edu 37 3 193029655 193029655 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:193029655C>A ENST00000342358.4 - 20 2512 c.2395G>T c.(2395-2397)Ggg>Tgg p.G799W ATP13A5-AS1_ENST00000414634.1_RNA|ATP13A5_ENST00000495496.1_5'UTR NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 799 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.G799W(1) NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TATGATTTCCCACTCATTGCA 0.403000 18 65 3.52763e-06 4.63281e-06 0.004990 1 0 RANGAP1 5905 broad.mit.edu 37 22 41645438 41645438 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:41645438C>A ENST00000455915.2 - 14 3059 c.1590G>T c.(1588-1590)aaG>aaT p.K530N RANGAP1_ENST00000407260.4_Missense_Mutation_p.K475N|RANGAP1_ENST00000356244.3_Missense_Mutation_p.K530N|RANGAP1_ENST00000405486.1_Missense_Mutation_p.K530N P46060 RAGP1_HUMAN Ran GTPase activating protein 1 530 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity p.K530N(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TGGCAATGGCCTTGACCTTGT 0.597000 8 41 0.000157383 0.000191818 0.003080 1 0 KRTAP19-6 337973 broad.mit.edu 37 21 31914007 31914007 + Missense_Mutation SNP C C T rs146590456 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr21:31914007C>T ENST00000334046.5 - 1 176 c.146G>A c.(145-147)cGt>cAt p.R49H NM_181612.2 NP_853643.1 Q3LI70 KR196_HUMAN keratin associated protein 19-6 49 intermediate filament p.R49H(1) breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 9 ATATCCTTCACGGCATGATGG 0.493000 18 191 0 0 0.004990 0 0 ZFP90 146198 broad.mit.edu 37 16 68597462 68597462 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:68597462G>T ENST00000570495.1 + 5 1064 c.772G>T c.(772-774)Gac>Tac p.D258Y ZFP90_ENST00000563169.2_Missense_Mutation_p.D258Y|ZFP90_ENST00000398253.2_Missense_Mutation_p.D258Y|RP11-615I2.7_ENST00000571720.1_RNA Q8TF47 ZFP90_HUMAN ZFP90 zinc finger protein 258 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.D258Y(1) breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) TGAATGTACCGACTGTGGGAA 0.423000 26 139 3.99451e-17 7.11468e-17 0.001786 1 0 ODAM 54959 broad.mit.edu 37 4 71066320 71066320 + Splice_Site SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:71066320T>C ENST00000396094.2 + 6 576 c.e6+2 NM_017855.3 NP_060325.3 A1E959 ODAM_HUMAN odontogenic, ameloblast asssociated biomineral tissue development|odontogenesis of dentine-containing tooth fibril p.?(1) NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2) 20 GAGGAGCAGGTACTGCAAATG 0.358000 13 30 0 0 0.001368 0 0 EIF4G1 1981 broad.mit.edu 37 3 184045208 184045208 + Silent SNP G G T rs113108196 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:184045208G>T ENST00000342981.4 + 23 4050 c.3636G>T c.(3634-3636)acG>acT p.T1212T EIF4G1_ENST00000414031.1_Silent_p.T1171T|EIF4G1_ENST00000424196.1_Silent_p.T1218T|EIF4G1_ENST00000346169.2_Silent_p.T1211T|EIF4G1_ENST00000435046.2_Silent_p.T1015T|EIF4G1_ENST00000441154.1_Silent_p.T1048T|EIF4G1_ENST00000382330.3_Silent_p.T1218T|EIF4G1_ENST00000392537.2_Silent_p.T1124T|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Silent_p.T1016T|EIF4G1_ENST00000427845.1_Silent_p.T1125T|EIF4G1_ENST00000319274.6_Silent_p.T1211T|EIF4G1_ENST00000352767.3_Silent_p.T1218T|EIF4G1_ENST00000350481.5_Silent_p.T1047T|EIF4G1_ENST00000411531.1_Silent_p.T1172T NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 1211 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity p.T1211T(1) central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CTAGCCTCACGGAGGATCGGG 0.627000 20 60 1.33834e-09 2.02335e-09 0.007413 1 0 CDH11 1009 broad.mit.edu 37 16 64984694 64984694 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:64984694G>T ENST00000394156.3 - 12 2323 c.1870C>A c.(1870-1872)Ctc>Atc p.L624I CDH11_ENST00000268603.4_Missense_Mutation_p.L624I|CDH11_ENST00000566827.1_Missense_Mutation_p.L498I P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 624 adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding p.L624I(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) ATGCAGGCGAGGATGGCGATC 0.617000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 5 37 5.9392e-07 8.08784e-07 0.001168 1 0 RAD54L 8438 broad.mit.edu 37 1 46725742 46725742 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:46725742G>T ENST00000371975.4 + 5 1052 c.378G>T c.(376-378)ctG>ctT p.L126L RAD54L_ENST00000442598.1_Silent_p.L126L NM_003579.3 NP_003570.2 Q92698 RAD54_HUMAN RAD54-like (S. cerevisiae) 126 meiosis nucleus ATP binding|DNA binding|helicase activity p.L126L(1) breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 25 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) KIRC - Kidney renal clear cell carcinoma(1967;0.000896) CTCCCCCGCTGAGCGCTCATG 0.557000 Direct reversal of damage;Homologous recombination 25 144 1.66031e-10 2.58547e-10 0.003954 1 0 TNR 7143 broad.mit.edu 37 1 175372526 175372526 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:175372526C>A ENST00000367674.1 - 4 1434 c.726G>T c.(724-726)cgG>cgT p.R242R TNR_ENST00000263525.2_Silent_p.R242R NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 242 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.R242R(2) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CGCAGAGCCCCCGGGAGCTGC 0.642000 39 44 1.30998e-17 2.34582e-17 0.005524 1 0 IRX1 79192 broad.mit.edu 37 5 3599391 3599391 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:3599391C>G ENST00000302006.3 + 2 381 c.329C>G c.(328-330)gCa>gGa p.A110G CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 110 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A110G(1) biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 GCCACCTTCGCAGCCCACACG 0.647000 4 84 0 0 0.000248 0 0 GPR6 2830 broad.mit.edu 37 6 110300858 110300858 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:110300858C>A ENST00000414000.2 + 3 827 c.588C>A c.(586-588)acC>acA p.T196T GPR6_ENST00000275169.3_Silent_p.T181T P46095 GPR6_HUMAN G protein-coupled receptor 6 181 integral to plasma membrane p.T181T(1) breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) CGCGCCGGACCCTGTTGGGCG 0.672000 7 50 1.06961e-07 1.50599e-07 0.003080 1 0 CCT5 22948 broad.mit.edu 37 5 10258573 10258573 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:10258573G>T ENST00000280326.4 + 6 1219 c.799G>T c.(799-801)Gat>Tat p.D267Y CCT5_ENST00000515390.1_Missense_Mutation_p.D212Y|CCT5_ENST00000515676.1_Missense_Mutation_p.D229Y|CCT5_ENST00000506600.1_Missense_Mutation_p.D174Y|CCT5_ENST00000503026.1_Missense_Mutation_p.D246Y NM_012073.3 NP_036205.1 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 267 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding p.D267Y(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2) 26 GCATAAGCTGGATGTGACCTC 0.393000 9 93 0.00448238 0.00518158 0.004482 1 0 RAD50 10111 broad.mit.edu 37 5 131895051 131895051 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:131895051G>T ENST00000265335.6 + 2 592 c.205G>T c.(205-207)Gat>Tat p.D69Y RAD50_ENST00000378823.3_5'UTR Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 69 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding p.D69Y(1)|p.D69N(1) breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATTTGTACACGATCCCAAGGT 0.284000 Homologous recombination 31 80 1.06801e-11 1.70635e-11 0.001786 1 0 CXCR4 7852 broad.mit.edu 37 2 136873041 136873041 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:136873041C>T ENST00000409817.1 - 1 772 c.469G>A c.(469-471)Gaa>Aaa p.E157K CXCR4_ENST00000241393.3_Missense_Mutation_p.E153K|CXCR4_ENST00000466288.1_5'UTR NM_001008540.1 NP_001008540.1 P61073 CXCR4_HUMAN chemokine (C-X-C motif) receptor 4 153 activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding p.E157K(1) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) ACCACCTTTTCAGCCAACAGC 0.547000 27 110 0 0 0.003954 0 0 KRT74 121391 broad.mit.edu 37 12 52964617 52964617 + Splice_Site SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:52964617C>G ENST00000549343.1 - 5 882 c.843_splice c.e5-1 p.E282_splice KRT74_ENST00000305620.2_Splice_Site_p.E282_splice Q7RTS7 K2C74_HUMAN keratin 74 282 Coil 1B.|Rod. keratin filament structural molecule activity p.E282Q(1) kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) TGAGCGATCTCCTGCATTGAG 0.577000 13 26 0 0 0.003163 0 0 MKL1 57591 broad.mit.edu 37 22 40814545 40814545 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:40814545C>G ENST00000396617.3 - 12 2487 c.1897G>C c.(1897-1899)Gag>Cag p.E633Q MKL1_ENST00000402042.1_Missense_Mutation_p.E583Q|MKL1_ENST00000355630.3_Missense_Mutation_p.E633Q|MKL1_ENST00000407029.1_Missense_Mutation_p.E633Q Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 633 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity p.E633Q(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GGGACCGGCTCGGGCTCAGGC 0.697000 T RBM15 acute megakaryocytic leukemia 4 49 0 0 0.000248 0 0 CYP4F3 4051 broad.mit.edu 37 19 15757873 15757873 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:15757873C>A ENST00000221307.7 + 4 403 c.355C>A c.(355-357)Cca>Aca p.P119T CYP4F3_ENST00000591058.1_Missense_Mutation_p.P119T|CYP4F3_ENST00000585846.1_Missense_Mutation_p.P119T|CYP4F3_ENST00000586182.1_Missense_Mutation_p.P119T NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 119 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding p.P119T(1) endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 TGCCATTGTACCAAAGGACAA 0.567000 15 87 9.16793e-09 1.35519e-08 0.004990 1 0 CSMD2 114784 broad.mit.edu 37 1 34204909 34204909 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:34204909G>C ENST00000373381.4 - 15 2376 c.2200C>G c.(2200-2202)Cct>Gct p.P734A NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 694 Sushi 4. integral to membrane|plasma membrane protein binding p.P694A(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGAACGCCAGGATCCGGGCAC 0.522000 33 110 0 0 0.002445 0 0 DCLRE1C 64421 broad.mit.edu 37 10 14974866 14974866 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:14974866C>A ENST00000453695.2 - 9 851 c.407G>T c.(406-408)tGc>tTc p.C136F DCLRE1C_ENST00000378249.1_Missense_Mutation_p.C141F|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.C136F|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.C256F|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.C141F|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.C136F|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.C141F|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.C136F|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.C256F|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.C136F NM_001033855.1 NP_001029027.1 Q96SD1 DCR1C_HUMAN DNA cross-link repair 1C 256 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity p.C141F(1)|p.C256F(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 17 GGGATGCCGGCATGCATGGAT 0.438000 Non-homologous end-joining 63 168 6.00099e-30 1.17611e-29 0.003610 1 0 IGLV3-21 28796 broad.mit.edu 37 22 23055496 23055496 + RNA SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:23055496G>C ENST00000390308.2 + 0 410 GTGTGCACTGGTACCAGCAGA 0.587000 10 33 0 0 0.008291 0 0 CPED1 79974 broad.mit.edu 37 7 120911417 120911417 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:120911417C>A ENST00000310396.5 + 22 3268 c.2801C>A c.(2800-2802)aCa>aAa p.T934K NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 p.T934K(1) GTAGTTGACACATTCACTATA 0.363000 32 105 3.90053e-15 6.73764e-15 0.002445 1 0 GABRB1 2560 broad.mit.edu 37 4 47405711 47405711 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:47405711C>A ENST00000295454.3 + 7 1110 c.818C>A c.(817-819)gCa>gAa p.A273E GABRB1_ENST00000538619.1_Missense_Mutation_p.A203E NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 273 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.A273E(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GATGCATCTGCAGCCAGAGTC 0.393000 7 59 2.0095e-06 2.67503e-06 0.001984 1 0 PRPS1 5631 broad.mit.edu 37 X 106890894 106890894 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:106890894G>T ENST00000372435.4 + 6 885 c.763G>T c.(763-765)Ggt>Tgt p.G255C PRPS1_ENST00000372428.4_Missense_Mutation_p.G188C|PRPS1_ENST00000543248.1_Missense_Mutation_p.G255C|PRPS1_ENST00000372418.1_Missense_Mutation_p.G155C NM_002764.3 NP_002755.1 P60891 PRPS1_HUMAN phosphoribosyl pyrophosphate synthetase 1 255 5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process cytosol ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity p.G255C(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 23 AATCTTCTCCGGTCCTGCTAT 0.443000 28 66 1.39806e-14 2.39255e-14 0.008361 1 0 TET1 80312 broad.mit.edu 37 10 70332962 70332962 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:70332962C>A ENST00000373644.4 + 2 1076 c.867C>A c.(865-867)ccC>ccA p.P289P NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 289 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding p.P289P(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 ACCTGGATCCCATTAAAAGTG 0.438000 16 91 1.99824e-07 2.77347e-07 0.004990 1 0 NTM 50863 broad.mit.edu 37 11 132016316 132016316 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:132016316A>G ENST00000374786.1 + 2 787 c.308A>G c.(307-309)cAg>cGg p.Q103R NTM_ENST00000374784.1_Missense_Mutation_p.Q103R|NTM_ENST00000374791.3_Missense_Mutation_p.Q103R|NTM_ENST00000427481.2_Missense_Mutation_p.Q94R|NTM_ENST00000425719.2_Missense_Mutation_p.Q103R|NTM_ENST00000539799.1_Missense_Mutation_p.Q103R NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 103 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|plasma membrane p.Q103R(2) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 ATCGAGATCCAGAACGTGGAT 0.557000 9 74 0 0 0.004482 0 0 ST8SIA6 338596 broad.mit.edu 37 10 17369028 17369028 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:17369028G>T ENST00000377602.4 - 6 694 c.620C>A c.(619-621)tCc>tAc p.S207Y NM_001004470.1 NP_001004470.1 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 207 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity p.S207Y(1) endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1) 37 AACGAAGTCGGATTTATCTAT 0.393000 16 53 1.67942e-08 2.45408e-08 0.006122 1 0 OR10X1 128367 broad.mit.edu 37 1 158549326 158549326 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:158549326C>T ENST00000368150.1 - 1 363 c.364G>A c.(364-366)Gga>Aga p.G122R NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G122R(1) breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) CCACCAAGTCCCAAGAAGAAG 0.468000 6 140 0 0 0.001984 0 0 SOBP 55084 broad.mit.edu 37 6 107824904 107824904 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:107824904G>T ENST00000317357.5 + 2 799 c.140G>T c.(139-141)gGc>gTc p.G47V NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 47 metal ion binding p.G47V(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) GGCTGGTATGGCTATGATAAG 0.388000 9 76 0.000274275 0.000330884 0.004482 1 0 NTNG1 22854 broad.mit.edu 37 1 107979327 107979327 + Nonsense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:107979327T>A ENST00000370068.1 + 7 2142 c.1296T>A c.(1294-1296)tgT>tgA p.C432* NTNG1_ENST00000542803.1_Nonsense_Mutation_p.C432*|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370061.3_Nonsense_Mutation_p.C398*|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370073.2_Nonsense_Mutation_p.C432*|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370071.2_Intron Q9Y2I2 NTNG1_HUMAN netrin G1 432 Laminin EGF-like 3. axonogenesis anchored to plasma membrane protein binding p.C432*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) ATGATCGTTGTAATGGCTCAG 0.463000 8 50 0 0 0.003080 0 0 PALM2 114299 broad.mit.edu 37 9 112705122 112705122 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:112705122G>T ENST00000448454.2 + 8 659 c.659G>T c.(658-660)gGc>gTc p.G220V AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000314527.4_Missense_Mutation_p.G218V|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000483909.1_Missense_Mutation_p.G184V|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000374531.2_Missense_Mutation_p.G186V paralemmin 2 p.G186V(1) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 18 CGCTCAGGAGGCACCGTAGTA 0.468000 9 38 3.09899e-07 4.25502e-07 0.004482 1 0 NCSTN 23385 broad.mit.edu 37 1 160326401 160326401 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:160326401C>T ENST00000368063.1 + 16 1871 c.1591C>T c.(1591-1593)Ctt>Ttt p.L531F NCSTN_ENST00000535857.1_Missense_Mutation_p.L413F|NCSTN_ENST00000294785.5_Missense_Mutation_p.L551F|NCSTN_ENST00000368065.4_Missense_Mutation_p.L293F|NCSTN_ENST00000392212.4_Missense_Mutation_p.L531F Q92542 NICA_HUMAN nicastrin 551 amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding p.L551F(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2) 34 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGACGGGCCTCTTCAACATTA 0.512000 88 158 0 0 0.003610 0 0 VPS13C 54832 broad.mit.edu 37 15 62325678 62325678 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr15:62325678G>A ENST00000261517.5 - 5 420 c.347C>T c.(346-348)tCc>tTc p.S116F VPS13C_ENST00000395896.4_Missense_Mutation_p.S116F|VPS13C_ENST00000395898.3_Missense_Mutation_p.S116F|VPS13C_ENST00000249837.3_Missense_Mutation_p.S116F NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 116 protein localization p.S116F(2) NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TTCAATTCGGGATAGCTCTTT 0.289000 3 21 0 0 0.000248 0 0 DSG1 1828 broad.mit.edu 37 18 28914145 28914145 + Nonsense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr18:28914145G>T ENST00000257192.4 + 8 1197 c.985G>T c.(985-987)Gga>Tga p.G329* NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 329 Cadherin 3. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding p.G329*(1) NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) AACAAATGTGGGAATTTTAAA 0.279000 14 81 1.41608e-15 2.45888e-15 0.001855 1 0 EXOC2 55770 broad.mit.edu 37 6 572554 572554 + Nonsense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:572554C>T ENST00000230449.4 - 13 1544 c.1409G>A c.(1408-1410)tGg>tAg p.W470* EXOC2_ENST00000448181.3_Nonsense_Mutation_p.W65* NM_018303.4 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 470 exocytosis|protein transport p.W470*(1) breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) GTAGGAGATCCAGAGTTTCCA 0.478000 16 53 0 0 0.004990 0 0 NLRP12 91662 broad.mit.edu 37 19 54314336 54314336 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:54314336G>A ENST00000324134.6 - 3 745 c.577C>T c.(577-579)Ccc>Tcc p.P193S NLRP12_ENST00000354278.3_Missense_Mutation_p.P193S|NLRP12_ENST00000391772.1_Missense_Mutation_p.P193S|NLRP12_ENST00000535162.1_Missense_Mutation_p.P193S|NLRP12_ENST00000391773.1_Missense_Mutation_p.P193S|NLRP12_ENST00000351894.4_Missense_Mutation_p.P193S|NLRP12_ENST00000345770.5_Missense_Mutation_p.P193S|NLRP12_ENST00000391775.3_Missense_Mutation_p.P193S NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 193 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding p.P193S(1) NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) ATCTTGATGGGGCTAGCCTGG 0.642000 6 72 0 0 0.001168 0 0 KIAA1432 57589 broad.mit.edu 37 9 5754900 5754900 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:5754900G>A ENST00000414202.2 + 15 1853 c.1662G>A c.(1660-1662)gcG>gcA p.A554A KIAA1432_ENST00000251879.6_Silent_p.A554A|KIAA1432_ENST00000381532.2_Silent_p.A475A|KIAA1432_ENST00000418622.3_Silent_p.A475A|KIAA1432_ENST00000449720.2_Silent_p.A438A NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 554 integral to membrane p.A475A(1) breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) TGGTCCTTGCGTGTTATAACA 0.289000 5 81 0 0 0.001984 0 0 BRAF 673 broad.mit.edu 37 7 140481411 140481411 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:140481411C>A ENST00000288602.6 - 11 1457 c.1397G>T c.(1396-1398)gGa>gTa p.G466V NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 466 Protein kinase. G -> A (in melanoma).|G -> E (in melanoma).|G -> V (in LNCR). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.G466V(15)|p.G466E(5)|p.G466A(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCCAAATGATCCAGATCCAAT 0.378000 G466V(CAL12T_LUNG)|G466V(NCIH1666_LUNG) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 30 110 2.42023e-17 4.31998e-17 0.003271 1 0 TENM3 55714 broad.mit.edu 37 4 183522166 183522166 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:183522166A>T ENST00000511685.1 + 4 724 c.601A>T c.(601-603)Act>Tct p.T201S TENM3_ENST00000406950.2_Missense_Mutation_p.T201S teneurin transmembrane protein 3 p.T201S(1) TCCATCCATCACTTCTCTCAA 0.562000 19 193 0 0 0.002299 0 0 PTPRG 5793 broad.mit.edu 37 3 61975456 61975456 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:61975456G>T ENST00000474889.1 + 3 725 c.348G>T c.(346-348)tgG>tgT p.W116C PTPRG_ENST00000295874.10_Missense_Mutation_p.W116C NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 116 Alpha-carbonic anhydrase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity p.W116Y(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) ACAAAACCTGGATGAAAAACA 0.423000 6 48 2.0095e-06 2.67503e-06 0.001984 1 0 MOCS2 4338 broad.mit.edu 37 5 52397233 52397233 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:52397233C>A ENST00000396954.3 - 5 1010 c.333G>T c.(331-333)agG>agT p.R111S MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000361377.4_Intron|MOCS2_ENST00000510818.2_3'UTR NM_004531.3 NP_004522.1 O96033 MOC2A_HUMAN molybdenum cofactor synthesis 2 0 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex nucleotide binding p.R111S(1) endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(810;3.08e-05)|Breast(144;0.0848) GCCATTTCTGCCTAATGTCAC 0.353000 54 168 1.39843e-22 2.6083e-22 0.003610 1 0 FLG2 388698 broad.mit.edu 37 1 152326249 152326249 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:152326249C>A ENST00000388718.5 - 3 4085 c.4013G>T c.(4012-4014)aGa>aTa p.R1338I FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1338 calcium ion binding|structural molecule activity p.R1338I(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCAGATGTTCTGGAACCTGT 0.488000 16 351 3.41278e-10 5.28472e-10 0.004990 1 0 GPR108 56927 broad.mit.edu 37 19 6732044 6732044 + Silent SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:6732044G>C ENST00000264080.7 - 13 1274 c.1248C>G c.(1246-1248)ccC>ccG p.P416P GPR108_ENST00000598626.1_5'UTR|GPR108_ENST00000430424.4_Silent_p.P174P NM_001080452.1 NP_001073921.1 Q9NPR9 GP108_HUMAN G protein-coupled receptor 108 416 integral to membrane p.P416P(1) breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 ACCAGACTACGGGGAACAGGA 0.622000 4 27 0 0 0.000248 0 0 GK 2710 broad.mit.edu 37 X 30726207 30726207 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:30726207G>A ENST00000378943.3 + 12 1092 c.913G>A c.(913-915)Gct>Act p.A305T GK_ENST00000378946.3_Missense_Mutation_p.A311T|GK_ENST00000427190.1_Missense_Mutation_p.A106T|GK-AS1_ENST00000464659.1_RNA|RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000378945.3_Missense_Mutation_p.A305T NM_001128127.2 NP_001121599.1 P32189 GLPK_HUMAN glycerol kinase 311 glycerol-3-phosphate metabolic process|triglyceride biosynthetic process cytosol|mitochondrial outer membrane ATP binding|glycerol kinase activity p.A305T(1) central_nervous_system(1)|large_intestine(3) 4 CACCACAGTGGCTTACAAACT 0.303000 6 34 0 0 0.001984 0 0 DLG2 1740 broad.mit.edu 37 11 84245776 84245776 + Splice_Site SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:84245776T>C ENST00000398309.2 - 2 513 c.e2-2 DLG2_ENST00000376104.2_Splice_Site|DLG2_ENST00000543673.1_Splice_Site|DLG2_ENST00000532653.1_Splice_Site|DLG2_ENST00000524982.1_Splice_Site NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding p.?(2) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TCGATACTTCTAGGAGAAAAG 0.393000 16 205 0 0 0.006122 0 0 SULT4A1 25830 broad.mit.edu 37 22 44237718 44237718 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:44237718G>T ENST00000330884.4 - 2 384 c.264C>A c.(262-264)gtC>gtA p.V88V SULT4A1_ENST00000249130.5_Silent_p.V88V|SULT4A1_ENST00000540422.1_Intron NM_014351.3 NP_055166.1 Q9BR01 ST4A1_HUMAN sulfotransferase family 4A, member 1 88 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol sulfotransferase activity p.V88V(1) kidney(1)|large_intestine(3)|lung(4)|ovary(1) 9 Ovarian(80;0.024)|all_neural(38;0.0416) Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419) GGTACTCCAGGACCGGGAGCT 0.602000 20 81 1.40151e-16 2.47764e-16 0.001523 1 0 BICD1 636 broad.mit.edu 37 12 32491768 32491768 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:32491768G>T ENST00000281474.5 + 8 2722 c.2619G>T c.(2617-2619)ggG>ggT p.G873G BICD1_ENST00000548411.1_Intron NM_001714.2 NP_001705.2 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 873 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton p.G873G(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) GGACTTCAGGGGCTTCCTACC 0.433000 68 111 1.43987e-31 2.84545e-31 0.003610 1 0 UGT2B28 54490 broad.mit.edu 37 4 70156342 70156342 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:70156342G>T ENST00000335568.5 + 5 1125 c.1123G>T c.(1123-1125)Ggt>Tgt p.G375C UGT2B28_ENST00000511240.1_Intron NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 375 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.G375C(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) TATAACTCATGGTGGAGCCAA 0.398000 42 147 1.23713e-20 2.26921e-20 0.003610 1 0 TTC12 54970 broad.mit.edu 37 11 113195353 113195353 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:113195353G>T ENST00000393020.1 + 5 676 c.271G>T c.(271-273)Gat>Tat p.D91Y TTC12_ENST00000314756.3_Missense_Mutation_p.D91Y|TTC12_ENST00000529221.1_Missense_Mutation_p.D91Y|TTC12_ENST00000483239.2_Missense_Mutation_p.D91Y Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 91 binding p.D91Y(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) TGTGGAGAAGGATGCAAAGGA 0.398000 8 43 1.06961e-07 1.50599e-07 0.003080 1 0 BMP10 27302 broad.mit.edu 37 2 69093692 69093692 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:69093692G>T ENST00000295379.1 - 2 504 c.346C>A c.(346-348)Cag>Aag p.Q116K NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 116 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding p.Q116K(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 CTGACCGGCTGGGAAAACAGA 0.428000 10 35 0.000442599 0.000529715 0.006214 1 0 HOXA10 3206 broad.mit.edu 37 7 27213050 27213050 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:27213050C>A ENST00000283921.4 - 1 875 c.876G>T c.(874-876)gcG>gcT p.A292A RP1-170O19.20_ENST00000470747.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron|HOXA10_ENST00000396344.4_Intron NM_018951.3 NP_061824.3 P31260 HXA10_HUMAN homeobox A10 292 A -> G (in Ref. 1; CAB86198). spermatogenesis protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A292A(1)|p.A275A(1) breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 9 ACGACGCGTGCGCCTCCTCGT 0.741000 4 16 0.000602214 0.0007161 0.000602 1 0 FMN2 56776 broad.mit.edu 37 1 240494014 240494014 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:240494014G>A ENST00000319653.9 + 11 4779 c.4549G>A c.(4549-4551)Gac>Aac p.D1517N FMN2_ENST00000545751.1_Missense_Mutation_p.D113N NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1517 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.D1660N(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CTTTGGATTAGACATTCTTCC 0.433000 5 77 0 0 0.000602 0 0 ABCA13 154664 broad.mit.edu 37 7 48315597 48315597 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:48315597T>A ENST00000435803.1 + 17 6358 c.6334T>A c.(6334-6336)Tca>Aca p.S2112T NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2112 transport integral to membrane ATP binding|ATPase activity p.S2112T(1)|p.S2057T(1) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GGATTCACCGTCATTGAAGAC 0.338000 14 24 0 0 0.001855 0 0 DRD1 1812 broad.mit.edu 37 5 174869611 174869611 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:174869611G>T ENST00000393752.2 - 2 1484 c.492C>A c.(490-492)caC>caA p.H164Q NM_000794.3 NP_000785.1 P21728 DRD1_HUMAN dopamine receptor D1 164 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding p.H164Q(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) GTTTTGCCTTGTGCCAGCTGA 0.527000 27 66 1.42536e-11 2.27509e-11 0.004656 1 0 SPOCD1 90853 broad.mit.edu 37 1 32259395 32259395 + Silent SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:32259395T>C ENST00000360482.2 - 12 2616 c.2487A>G c.(2485-2487)ccA>ccG p.P829P SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Silent_p.P322P|SPOCD1_ENST00000533231.1_Silent_p.P829P NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 829 transcription, DNA-dependent p.P829P(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) TGGGCATCTCTGGAGCAGGCA 0.597000 13 177 0 0 0.002450 0 0 SKA3 221150 broad.mit.edu 37 13 21742417 21742417 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:21742417C>A ENST00000314759.5 - 4 577 c.453G>T c.(451-453)aaG>aaT p.K151N SKA3_ENST00000400018.3_Missense_Mutation_p.K151N NM_145061.5 NP_659498.4 Q8IX90 SKA3_HUMAN spindle and kinetochore associated complex subunit 3 151 cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytoplasm|spindle microtubule protein binding p.K151N(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 TACGTGGAGACTTCTCAGAAA 0.428000 18 128 3.52763e-06 4.63281e-06 0.004990 1 0 FOXK1 221937 broad.mit.edu 37 7 4796696 4796696 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:4796696G>T ENST00000328914.4 + 5 1122 c.1122G>T c.(1120-1122)ggG>ggT p.G374G FOXK1_ENST00000446823.1_Silent_p.G211G NM_001037165.1 NP_001032242.1 P85037 FOXK1_HUMAN forkhead box K1 374 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.G352G(1)|p.G374G(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) AGGAGCCTGGGAAGGGGTCCT 0.552000 44 86 2.37825e-27 4.57992e-27 0.002522 1 0 CELSR3 1951 broad.mit.edu 37 3 48697224 48697224 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:48697224C>A ENST00000544264.1 - 1 3124 c.2844G>T c.(2842-2844)gaG>gaT p.E948D CELSR3_ENST00000164024.4_Missense_Mutation_p.E948D Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 948 Cadherin 6. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding p.E948V(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TGACCATCACCTCCACATAAG 0.532000 24 76 2.98393e-07 4.12777e-07 0.002780 1 0 SLC15A1 6564 broad.mit.edu 37 13 99364135 99364135 + Silent SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:99364135T>A ENST00000376503.5 - 11 928 c.873A>T c.(871-873)ccA>ccT p.P291P NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 291 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity p.P291P(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) CCCAGAACATTGGGAGTGGAA 0.517000 23 87 0 0 0.005443 0 0 PCNT 5116 broad.mit.edu 37 21 47768970 47768970 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr21:47768970A>T ENST00000359568.5 + 7 1184 c.1077A>T c.(1075-1077)gaA>gaT p.E359D PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 359 Glu-rich. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding p.E359D(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) TATGTTTAGAAAATCTACGCA 0.328000 49 112 0 0 0.003610 0 0 GCLC 2729 broad.mit.edu 37 6 53379289 53379289 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:53379289T>A ENST00000229416.6 - 5 1050 c.567A>T c.(565-567)ttA>ttT p.L189F GCLC_ENST00000514004.1_Missense_Mutation_p.L189F NM_001197115.1|NM_001498.3 NP_001184044.1|NP_001489.1 P48506 GSH1_HUMAN glutamate-cysteine ligase, catalytic subunit 189 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding p.L189F(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) TATTTCTTGTTAAGGTACTAA 0.383000 4 50 0 0 0.000248 0 0 ANAPC5 51433 broad.mit.edu 37 12 121773445 121773445 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:121773445G>A ENST00000261819.3 - 7 962 c.841C>T c.(841-843)Ctg>Ttg p.L281L ANAPC5_ENST00000536366.1_Silent_p.L160L|ANAPC5_ENST00000344395.4_Silent_p.L182L|ANAPC5_ENST00000441917.2_Silent_p.L182L|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Silent_p.L281L NM_016237.4 NP_057321.2 Q9UJX4 APC5_HUMAN anaphase promoting complex subunit 5 281 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3) 31 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GTAAGAATCAGACGATCAAAA 0.463000 6 81 0 0 0.006214 0 0 WDR63 126820 broad.mit.edu 37 1 85592309 85592309 + Nonsense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:85592309G>A ENST00000294664.6 + 20 2408 c.2228G>A c.(2227-2229)tGg>tAg p.W743* WDR63_ENST00000326813.8_Nonsense_Mutation_p.W704*|WDR63_ENST00000370596.1_Nonsense_Mutation_p.W704* NM_145172.3 NP_660155.2 Q8IWG1 WDR63_HUMAN WD repeat domain 63 743 p.W743*(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3) 36 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) ATTGATATCTGGGACCTTCTG 0.463000 6 53 0 0 0.001168 0 0 LSAMP 4045 broad.mit.edu 37 3 115560789 115560789 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:115560789G>T ENST00000490035.1 - 6 1321 c.822C>A c.(820-822)tcC>tcA p.S274S LSAMP_ENST00000539563.1_Silent_p.S271S|LSAMP_ENST00000498645.1_5'UTR NM_002338.3 NP_002329.2 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 274 Ig-like C2-type 3. cell adhesion|nervous system development anchored to membrane|plasma membrane p.S274S(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) TCACCGTCAGGGAAGACTGGC 0.488000 14 89 9.31168e-06 1.20667e-05 0.001855 1 0 ARHGAP21 57584 broad.mit.edu 37 10 24910126 24910126 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:24910126C>A ENST00000396432.2 - 9 1184 c.698G>T c.(697-699)aGt>aTt p.S233I ARHGAP21_ENST00000320481.6_Missense_Mutation_p.S20I NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 232 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding p.S232I(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 TACTGGTGTACTGGTTTGCTG 0.483000 8 105 1.12685e-05 1.45231e-05 0.004482 1 0 UHRF1BP1 54887 broad.mit.edu 37 6 34826039 34826039 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:34826039C>T ENST00000192788.5 + 14 2077 c.1906C>T c.(1906-1908)Cgg>Tgg p.R636W UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.R636W NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 636 p.R636W(1) breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 GAGTCTCTTCCGGGGTTTTGC 0.488000 57 92 0 0 0.003610 0 0 SLC36A1 206358 broad.mit.edu 37 5 150858948 150858948 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:150858948G>T ENST00000243389.3 + 10 1280 c.1057G>T c.(1057-1059)Gtc>Ttc p.V353F SLC36A1_ENST00000521925.1_Missense_Mutation_p.V353F|SLC36A1_ENST00000520701.1_Missense_Mutation_p.V353F NM_078483.2 NP_510968.2 Q7Z2H8 S36A1_HUMAN solute carrier family 36 (proton/amino acid symporter), member 1 353 cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity p.V353F(1) endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1) 25 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) CCAGTTCTACGTCCCGGCTGA 0.547000 24 62 2.70639e-06 3.58263e-06 0.002299 1 0 PAH 5053 broad.mit.edu 37 12 103249050 103249050 + Silent SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:103249050C>G ENST00000553106.1 - 6 1042 c.570G>C c.(568-570)gtG>gtC p.V190V PAH_ENST00000307000.2_Silent_p.V185V NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase 190 V -> A (in PKU; haplotype 3). catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity p.V190V(1) endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) GAGTCTTGAACACTGTGCCCC 0.438000 17 32 0 0 0.004007 0 0 NFATC3 4775 broad.mit.edu 37 16 68156594 68156594 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:68156594C>T ENST00000349223.5 + 2 1032 c.808C>T c.(808-810)Ccc>Tcc p.P270S NFATC3_ENST00000575270.1_Missense_Mutation_p.P270S|NFATC3_ENST00000329524.4_Missense_Mutation_p.P270S|NFATC3_ENST00000346183.3_Missense_Mutation_p.P270S|NFATC3_ENST00000535127.2_3'UTR NM_173163.2 NP_775186.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 270 3 X SP repeats. inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding p.P270S(4) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) GCCCACATCCCCCTGTGGGAA 0.582000 12 69 0 0 0.000978 0 0 NLN 57486 broad.mit.edu 37 5 65084126 65084126 + Silent SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:65084126C>G ENST00000380985.5 + 8 1318 c.1140C>G c.(1138-1140)ctC>ctG p.L380L NLN_ENST00000502464.1_Silent_p.L276L NM_020726.4 NP_065777.1 Q9BYT8 NEUL_HUMAN neurolysin (metallopeptidase M3 family) 380 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity p.L380L(1) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) AAGAGTTCCTCAAGGAATACT 0.418000 27 109 0 0 0.005443 0 0 BSDC1 55108 broad.mit.edu 37 1 32842006 32842006 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:32842006G>A ENST00000341071.7 - 9 1075 c.1064C>T c.(1063-1065)aCg>aTg p.T355M BSDC1_ENST00000455895.2_Missense_Mutation_p.T338M|BSDC1_ENST00000419121.2_Missense_Mutation_p.T282M|BSDC1_ENST00000526031.1_Missense_Mutation_p.T243M|BSDC1_ENST00000449308.1_Missense_Mutation_p.T338M|BSDC1_ENST00000413080.1_Missense_Mutation_p.T277M|BSDC1_ENST00000446293.2_Missense_Mutation_p.T355M Q9NW68 BSDC1_HUMAN BSD domain containing 1 338 protein binding p.T355M(2) breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GCCAGCAGGCGTTAGGGGCTT 0.622000 12 141 0 0 0.001855 0 0 BMS1 9790 broad.mit.edu 37 10 43287086 43287086 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:43287086G>T ENST00000374518.4 + 6 711 c.648G>T c.(646-648)ctG>ctT p.L216L NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 216 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity p.L216L(1) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GTGCCAAGCTGTTCTACCTTT 0.343000 23 109 1.87028e-06 2.50376e-06 0.001882 1 0 WRN 7486 broad.mit.edu 37 8 30977913 30977913 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:30977913G>T ENST00000298139.5 + 21 2852 c.2603G>T c.(2602-2604)tGg>tTg p.W868L NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 868 Helicase C-terminal. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding p.W868L(1) central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CACGTCCTCTGGGCTCCTGCA 0.368000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 8 55 0.00307968 0.00358504 0.003080 1 0 CRYBB1 1414 broad.mit.edu 37 22 27012132 27012132 + Missense_Mutation SNP G G C rs144920095 byFrequency TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:27012132G>C ENST00000215939.2 - 2 282 c.152C>G c.(151-153)gCg>gGg p.A51G NM_001887.3 NP_001878.1 P53674 CRBB1_HUMAN crystallin, beta B1 51 N-terminal arm. visual perception structural constituent of eye lens p.A51G(1) breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4) 31 CAGTTCCGCCGCCTTGGCGCT 0.637000 14 47 0 0 0.003163 0 0 COL25A1 84570 broad.mit.edu 37 4 109738569 109738569 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:109738569G>C ENST00000399132.1 - 37 2476 c.1946C>G c.(1945-1947)cCt>cGt p.P649R NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 649 collagen|extracellular space beta-amyloid binding|heparin binding p.P649R(1) NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CCAACAGCCAGGCATGGGTAA 0.413000 5 72 0 0 0.001984 0 0 PAPPA2 60676 broad.mit.edu 37 1 176769207 176769207 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:176769207G>T ENST00000367662.3 + 21 6305 c.5141G>T c.(5140-5142)tGc>tTc p.C1714F NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1714 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.C1714F(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AGCATTGTGTGCACTGGCCGG 0.502000 16 232 1.67942e-08 2.45408e-08 0.006122 1 0 OR2T4 127074 broad.mit.edu 37 1 248525501 248525501 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:248525501C>T ENST00000366475.1 + 1 619 c.619C>T c.(619-621)Cat>Tat p.H207Y NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H207Y(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCGGGAGATTCATCATTTCTT 0.498000 29 270 0 0 0.006320 0 0 UBR4 23352 broad.mit.edu 37 1 19478261 19478261 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:19478261C>A ENST00000375267.2 - 48 7092 c.7089G>T c.(7087-7089)cgG>cgT p.R2363R UBR4_ENST00000375254.3_Silent_p.R2363R|UBR4_ENST00000375226.2_Silent_p.R2363R|UBR4_ENST00000375217.2_Silent_p.R2363R Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2363 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding p.R2363R(1) breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) ATGACGGGGCCCGTTCTATTG 0.522000 22 76 4.26978e-12 6.88139e-12 0.003330 1 0 STXBP5L 9515 broad.mit.edu 37 3 121126217 121126217 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:121126217G>T ENST00000273666.6 + 24 3058 c.2787G>T c.(2785-2787)tgG>tgT p.W929C STXBP5L_ENST00000472879.1_Missense_Mutation_p.W905C|STXBP5L_ENST00000492541.1_Missense_Mutation_p.W929C|STXBP5L_ENST00000471454.1_Missense_Mutation_p.W905C|STXBP5L_ENST00000497029.1_Missense_Mutation_p.W903C NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 929 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane p.W929C(1) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AAAAATCTTGGAGAAGGAAAG 0.393000 20 53 7.41877e-09 1.09761e-08 0.001882 1 0 FIGNL1 63979 broad.mit.edu 37 7 50514655 50514655 + Nonsense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:50514655T>A ENST00000419119.1 - 2 1884 c.331A>T c.(331-333)Aaa>Taa p.K111* FIGNL1_ENST00000435566.1_3'UTR|FIGNL1_ENST00000433017.1_Nonsense_Mutation_p.K111*|FIGNL1_ENST00000395556.2_Nonsense_Mutation_p.K111*|FIGNL1_ENST00000356889.4_Nonsense_Mutation_p.K111* Q6PIW4 FIGL1_HUMAN fidgetin-like 1 111 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity p.K111*(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 29 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) CTACTCATTTTGAAAACATTA 0.383000 14 110 0 0 0.003163 0 0 BRINP2 57795 broad.mit.edu 37 1 177250432 177250432 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:177250432C>G ENST00000361539.4 + 8 2432 c.2120C>G c.(2119-2121)cCa>cGa p.P707R FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 707 extracellular region p.P707R(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 TTGGACTACCCATATACTCAA 0.498000 56 158 0 0 0.003610 0 0 COL4A4 1286 broad.mit.edu 37 2 228004920 228004920 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:228004920C>A ENST00000396625.3 - 4 356 c.149G>T c.(148-150)aGa>aTa p.R50I COL4A4_ENST00000329662.7_Missense_Mutation_p.R50I NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 50 7S domain. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding p.R50I(1) breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) AGAGCAATCTCTTCCTCCACA 0.413000 38 72 6.57855e-14 1.1053e-13 0.002222 1 0 MPPED2 744 broad.mit.edu 37 11 30516971 30516971 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:30516971G>A ENST00000448418.2 - 4 768 c.408C>T c.(406-408)taC>taT p.Y136Y MPPED2_ENST00000358117.5_Silent_p.Y136Y NM_001145399.1 NP_001138871.1 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 136 nervous system development hydrolase activity|metal ion binding p.Y136Y(2) NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2) 33 AGGGGAAACGGTAGTAGTCCT 0.403000 5 58 0 0 0.000602 0 0 SYNE2 23224 broad.mit.edu 37 14 64653253 64653253 + Nonsense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:64653253C>T ENST00000357395.3 + 98 17967 c.6823C>T c.(6823-6825)Caa>Taa p.Q2275* SYNE2_ENST00000394768.2_Nonsense_Mutation_p.Q2275*|SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.Q5890*|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.Q5890*|SYNE2_ENST00000555002.1_Nonsense_Mutation_p.Q2524* Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5890 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding p.Q5890*(1) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TTTGAAGGAGCAAATAGAGCA 0.483000 14 140 0 0 0.003163 0 0 RYR2 6262 broad.mit.edu 37 1 237732489 237732489 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:237732489G>T ENST00000366574.2 + 29 3785 c.3468G>T c.(3466-3468)tgG>tgT p.W1156C RYR2_ENST00000360064.6_Missense_Mutation_p.W1154C|RYR2_ENST00000542537.1_Missense_Mutation_p.W1140C NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1156 4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.W1154C(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGCGCTCTTGGCAAGCAGGCG 0.507000 6 54 8.12818e-05 0.000100244 0.001984 1 0 NYAP1 222950 broad.mit.edu 37 7 100085977 100085977 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:100085977G>A ENST00000423930.1 + 4 792 c.633G>A c.(631-633)caG>caA p.Q211Q NYAP1_ENST00000454988.1_Silent_p.Q154Q|NYAP1_ENST00000300179.2_Silent_p.Q211Q Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 211 p.Q211Q(1) TGGGTGCCCAGGAAGAGCCTG 0.672000 6 95 0 0 0.001168 0 0 INPP5A 3632 broad.mit.edu 37 10 134463936 134463936 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:134463936G>T ENST00000368594.3 + 4 510 c.233G>T c.(232-234)aGt>aTt p.S78I INPP5A_ENST00000368593.3_Missense_Mutation_p.S78I NM_005539.3 NP_005530.3 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase, 40kDa 78 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding p.S78I(2) cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) CTATTGTCGAGTGATGCGATG 0.507000 56 204 7.22619e-39 1.4435e-38 0.003610 1 0 GABRQ 55879 broad.mit.edu 37 X 151820193 151820193 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:151820193G>A ENST00000370306.2 + 8 1126 c.1106G>A c.(1105-1107)cGa>cAa p.R369Q NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 369 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity p.R369Q(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) AGGAGACCCCGAAGAGTCATT 0.517000 12 61 0 0 0.000978 0 0 SIRPA 140885 broad.mit.edu 37 20 1903195 1903195 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:1903195T>A ENST00000358771.4 + 4 1143 c.991T>A c.(991-993)Tgc>Agc p.C331S SIRPA_ENST00000400068.3_Missense_Mutation_p.C331S|SIRPA_ENST00000356025.3_Missense_Mutation_p.C331S NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 331 Ig-like C1-type 2. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding p.C331S(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) GAAGCTCACCTGCCAGGTGGA 0.572000 8 62 0 0 0.008291 0 0 FAM135B 51059 broad.mit.edu 37 8 139158255 139158255 + Nonsense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:139158255C>A ENST00000395297.1 - 15 3657 c.3487G>T c.(3487-3489)Gaa>Taa p.E1163* NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1163 p.E1163*(4) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AGCCCCAGTTCTATGAAAGTC 0.448000 HNSCC(54;0.14) 13 142 2.32078e-09 3.49909e-09 0.003163 1 0 PLA2G4F 255189 broad.mit.edu 37 15 42436333 42436333 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr15:42436333G>T ENST00000397272.3 - 18 2082 c.1991C>A c.(1990-1992)cCg>cAg p.P664Q PLA2G4F_ENST00000382396.4_Missense_Mutation_p.P662Q NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 662 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity p.P662Q(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GAAGGCGTCCGGGTGTGTGTC 0.572000 11 54 0.000673444 0.000799083 0.008291 1 0 CDRT1 374286 broad.mit.edu 37 17 15516139 15516139 + Splice_Site SNP T T G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:15516139T>G ENST00000455584.2 - 11 1973 c.e11-2 CDRT1_ENST00000395906.3_Splice_Site p.?(2) ATAGGACCCCTGGaaaaacaa 0.388000 25 55 0 0 0.003330 0 0 COL11A1 1301 broad.mit.edu 37 1 103444661 103444661 + Splice_Site SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:103444661C>G ENST00000358392.2 - 33 2964 c.e33-1 COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.?(2) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CAGCTACTCCCTAGCAAAGAC 0.408000 4 31 0 0 0.000248 0 0 GCDH 2639 broad.mit.edu 37 19 13004356 13004356 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:13004356C>G ENST00000222214.5 + 6 605 c.394C>G c.(394-396)Cgg>Ggg p.R132G GCDH_ENST00000422947.2_Missense_Mutation_p.R88G|GCDH_ENST00000591470.1_Missense_Mutation_p.R132G|GCDH_ENST00000457854.1_Missense_Mutation_p.R132G Q92947 GCDH_HUMAN glutaryl-CoA dehydrogenase 132 lysine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding p.R132G(2) autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8) 19 AGAGCTGGAGCGGGTGGACAG 0.587000 14 58 0 0 0.002450 0 0 TAS1R1 80835 broad.mit.edu 37 1 6639186 6639186 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:6639186C>A ENST00000333172.6 + 6 2261 c.2068C>A c.(2068-2070)Cag>Aag p.Q690K TAS1R1_ENST00000351136.3_Missense_Mutation_p.Q436K|TAS1R1_ENST00000328191.4_3'UTR NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 690 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity p.Q690K(1) NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) CTCAGCGGCCCAGCTGCTTAT 0.537000 16 91 1.15088e-07 1.60948e-07 0.004007 1 0 KLHL32 114792 broad.mit.edu 37 6 97562151 97562151 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:97562151C>G ENST00000369261.4 + 7 1483 c.1120C>G c.(1120-1122)Cgc>Ggc p.R374G KLHL32_ENST00000536676.1_Missense_Mutation_p.R338G|KLHL32_ENST00000539200.1_Missense_Mutation_p.R305G|KLHL32_ENST00000544166.1_Intron NM_052904.3 NP_443136.2 Q96NJ5 KLH32_HUMAN kelch-like family member 32 374 p.R374G(1) breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) CTATGACCCCCGCAGTAATTC 0.567000 15 28 0 0 0.002450 0 0 PROS1 5627 broad.mit.edu 37 3 93598149 93598149 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:93598149G>C ENST00000394236.3 - 13 1818 c.1502C>G c.(1501-1503)tCc>tGc p.S501C PROS1_ENST00000407433.1_Missense_Mutation_p.S370C NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 501 Laminin G-like 2. S -> A (in PROS1D).|S -> P (variant Heerlen; could be associated with PROS1D). leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) CTCAGCACTGGATACATTATC 0.398000 4 187 0 0 0.001984 0 0 PHF21A 51317 broad.mit.edu 37 11 46105753 46105753 + Silent SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:46105753T>A ENST00000257821.4 - 3 641 c.18A>T c.(16-18)ctA>ctT p.L6L PHF21A_ENST00000323180.6_Silent_p.L6L|PHF21A_ENST00000418153.2_Silent_p.L6L NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 6 Gln-rich. blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding p.L6L(2) central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 GAGCCTCCTGTAGAGTCTGCA 0.403000 12 28 0 0 0.000978 0 0 MCC 4163 broad.mit.edu 37 5 112437459 112437459 + Nonsense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:112437459C>A ENST00000302475.4 - 6 1368 c.805G>T c.(805-807)Gag>Tag p.E269* MCC_ENST00000515367.2_Nonsense_Mutation_p.E206*|MCC_ENST00000408903.3_Nonsense_Mutation_p.E459*|MCC_ENST00000514701.3_5'UTR NM_002387.2 NP_002378.1 P23508 CRCM_HUMAN mutated in colorectal cancers 269 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity p.E459*(1)|p.E269*(1) endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) CGGTCCCGCTCTTCCCGGATG 0.602000 27 61 1.32003e-05 1.68948e-05 0.005443 1 0 DYNC2H1 79659 broad.mit.edu 37 11 103270477 103270477 + Missense_Mutation SNP T T G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:103270477T>G ENST00000375735.2 + 84 12387 c.12243T>G c.(12241-12243)ttT>ttG p.F4081L DYNC2H1_ENST00000398093.3_Missense_Mutation_p.F4088L|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 4081 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity p.F1521L(1) NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TTGAACAATTTAATGCTATTC 0.373000 20 59 0 0 0.001882 0 0 RFWD2 64326 broad.mit.edu 37 1 176105681 176105681 + Silent SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:176105681T>C ENST00000367669.3 - 7 1348 c.834A>G c.(832-834)caA>caG p.Q278Q RFWD2_ENST00000308769.8_Intron NM_022457.5 NP_071902.2 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2, E3 ubiquitin protein ligase 278 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding p.Q278Q(1) endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TCTGTTCCAGTTGCTGCAGAT 0.333000 9 25 0 0 0.008291 0 0 OR8B8 26493 broad.mit.edu 37 11 124310761 124310761 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:124310761G>T ENST00000328064.2 - 1 293 c.221C>A c.(220-222)tCc>tAc p.S74Y NM_012378.1 NP_036510.1 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, member 8 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S74F(2)|p.S74Y(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GATAACACTGGAATAGCAGAA 0.428000 25 67 4.87955e-14 8.20675e-14 0.005443 1 0 EIF4G1 1981 broad.mit.edu 37 3 184046479 184046479 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:184046479C>T ENST00000342981.4 + 26 4431 c.4017C>T c.(4015-4017)ctC>ctT p.L1339L EIF4G1_ENST00000414031.1_Silent_p.L1298L|EIF4G1_ENST00000424196.1_Silent_p.L1345L|EIF4G1_ENST00000346169.2_Silent_p.L1338L|EIF4G1_ENST00000435046.2_Silent_p.L1142L|EIF4G1_ENST00000441154.1_Silent_p.L1175L|EIF4G1_ENST00000382330.3_Silent_p.L1345L|EIF4G1_ENST00000392537.2_Silent_p.L1251L|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Silent_p.L1143L|EIF4G1_ENST00000427845.1_Silent_p.L1252L|EIF4G1_ENST00000319274.6_Silent_p.L1338L|EIF4G1_ENST00000352767.3_Silent_p.L1345L|EIF4G1_ENST00000350481.5_Silent_p.L1174L|EIF4G1_ENST00000411531.1_Silent_p.L1299L NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 1338 MI. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity p.L1338L(1) central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ACGTGTGGCTCTACCTAGCGG 0.522000 46 141 0 0 0.002222 0 0 HIST1H3F 8968 broad.mit.edu 37 6 26250535 26250535 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:26250535T>A ENST00000446824.2 - 1 300 c.299A>T c.(298-300)tAc>tTc p.Y100F NM_021018.2 NP_066298.1 P68431 H31_HUMAN histone cluster 1, H3f 100 Y -> T (in Ref. 7; CAB02546). blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding p.Y100F(1) lung(6)|urinary_tract(1) 7 CCCCACCAGGTAAGCCTCGCA 0.612000 OREG0017241 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 119 0 0 0.001855 0 0 HELZ2 85441 broad.mit.edu 37 20 62199965 62199965 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:62199965C>A ENST00000467148.1 - 5 1545 c.1476G>T c.(1474-1476)caG>caT p.Q492H NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator p.Q492H(1) GCACCACCAGCTGCTCCTCAG 0.672000 3 22 0.004672 0.00538578 0.004672 1 0 CCDC50 152137 broad.mit.edu 37 3 191075856 191075856 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:191075856A>G ENST00000392455.3 + 3 780 c.182A>G c.(181-183)cAg>cGg p.Q61R CCDC50_ENST00000392456.3_Missense_Mutation_p.Q61R NM_174908.3 NP_777568.1 Q8IVM0 CCD50_HUMAN coiled-coil domain containing 50 61 cytoplasm protein binding p.Q61R(1) endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1) 23 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) GTGGCTAAGCAGCTCCAAGAG 0.512000 22 158 0 0 0.001882 0 0 PSD 5662 broad.mit.edu 37 10 104170620 104170620 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:104170620G>T ENST00000020673.5 - 10 2612 c.2086C>A c.(2086-2088)Ctc>Atc p.L696I PSD_ENST00000406432.1_Missense_Mutation_p.L696I NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 696 SEC7. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity p.L481I(1)|p.L696I(1) breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) CCCACCTTGAGCAGCTCCCTA 0.657000 13 71 6.72482e-11 1.05612e-10 0.003163 1 0 HKDC1 80201 broad.mit.edu 37 10 71025520 71025520 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:71025520A>T ENST00000354624.5 + 17 2685 c.2552A>T c.(2551-2553)gAg>gTg p.E851V RP11-227H15.5_ENST00000413220.1_RNA NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 851 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity p.E851V(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 CAGGGGCTAGAGCACCTGAGG 0.662000 6 25 0 0 0.001168 0 0 KRT82 3888 broad.mit.edu 37 12 52799789 52799789 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:52799789G>A ENST00000257974.2 - 1 350 c.273C>T c.(271-273)tgC>tgT p.C91C NM_033033.3 NP_149022.3 Q9NSB4 KRT82_HUMAN keratin 82 91 Head. keratin filament protein binding|structural constituent of epidermis p.C91C(1) endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) CAGGGGTGATGCAGGCAGAAG 0.617000 30 49 0 0 0.001786 0 0 SETX 23064 broad.mit.edu 37 9 135204107 135204107 + Nonsense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:135204107T>A ENST00000372169.2 - 10 3060 c.2878A>T c.(2878-2880)Aga>Tga p.R960* SETX_ENST00000393220.1_Nonsense_Mutation_p.R960*|SETX_ENST00000224140.5_Nonsense_Mutation_p.R960* Q7Z333 SETX_HUMAN senataxin 960 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity p.R960*(1) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TGAAGGTCTCTGTCTATCTGA 0.413000 8 93 0 0 0.003080 0 0 TYR 7299 broad.mit.edu 37 11 89018021 89018021 + Missense_Mutation SNP G G T rs61754393 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:89018021G>T ENST00000263321.5 + 4 1767 c.1265G>T c.(1264-1266)cGg>cTg p.R422L NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 422 R -> Q (in OCA1A and OCA1B; temperature sensitive variant). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity p.R422L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) GGACATAACCGGGAATCCTAC 0.413000 28 95 8.58068e-18 1.54155e-17 0.007291 1 0 ORC5 5001 broad.mit.edu 37 7 103808843 103808843 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:103808843C>T ENST00000447452.2 - 9 1007 c.955G>A c.(955-957)Gag>Aag p.E319K ORC5_ENST00000297431.4_Intron|ORC5_ENST00000545943.1_Intron NM_181747.3 NP_859531.1 O43913 ORC5_HUMAN origin recognition complex, subunit 5 0 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle cytoplasm|nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|identical protein binding p.E319K(1) kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1) 14 ACTGAATGCTCTTTAGTATTA 0.318000 4 57 0 0 0.000248 0 0 FOLH1 2346 broad.mit.edu 37 11 49229960 49229960 + Translation_Start_Site SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:49229960A>T ENST00000256999.2 - 1 262 c.2T>A c.(1-3)aTg>aAg p.M1K FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000340334.7_5'UTR|FOLH1_ENST00000356696.3_Start_Codon_SNP_p.M1K NM_004476.1 NP_004467.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 1 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity p.M1K(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) GAGATTCCACATCTCGGCGCG 0.692000 3 10 0 0 0.000248 0 0 FAM160A2 84067 broad.mit.edu 37 11 6232933 6232933 + Missense_Mutation SNP G G A rs139429864 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:6232933G>A ENST00000265978.4 - 12 3122 c.2764C>T c.(2764-2766)Cgg>Tgg p.R922W FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000449352.2_Missense_Mutation_p.R908W NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 908 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding p.R922W(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GCCCCGCCCCGGGTGAGTAGA 0.597000 15 85 0 0 0.003163 0 0 HTR1E 3354 broad.mit.edu 37 6 87725964 87725964 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:87725964G>T ENST00000305344.4 + 2 1615 c.912G>T c.(910-912)tgG>tgT p.W304C HTR1E_ENST00000369584.1_Missense_Mutation_p.W304C NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 304 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity p.W304C(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) TTTTATCCTGGCTGCCATTTT 0.512000 19 204 8.34094e-07 1.12752e-06 0.008871 1 0 TEX10 54881 broad.mit.edu 37 9 103084051 103084051 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:103084051G>A ENST00000374902.4 - 10 2158 c.1982C>T c.(1981-1983)tCa>tTa p.S661L TEX10_ENST00000535814.1_Missense_Mutation_p.S664L NM_017746.3 NP_060216.2 Q9NXF1 TEX10_HUMAN testis expressed 10 661 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding p.S661L(1) NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 38 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) AGAAAATGATGATCTATAAAA 0.363000 6 83 0 0 0.003080 0 0 NUP35 129401 broad.mit.edu 37 2 183993024 183993024 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:183993024C>T ENST00000295119.4 + 2 153 c.50C>T c.(49-51)cCa>cTa p.P17L NUP35_ENST00000409798.1_5'UTR|NUP35_ENST00000497330.1_3'UTR|NUP35_ENST00000541912.1_5'UTR NM_138285.3 NP_612142.2 Q8NFH5 NUP53_HUMAN nucleoporin 35kDa 17 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane p.P17L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2) 8 GGATCTGAACCAATGATGCTG 0.388000 4 53 0 0 0.000602 0 0 OR8J3 81168 broad.mit.edu 37 11 55905109 55905109 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:55905109A>T ENST00000301529.1 - 1 85 c.86T>A c.(85-87)cTg>cAg p.L29Q NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L29Q(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) TAGGAAGACCAGGAAGAGGGG 0.493000 18 181 0 0 0.004990 0 0 USH2A 7399 broad.mit.edu 37 1 215990499 215990499 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:215990499T>C ENST00000366943.2 - 48 9796 c.9410A>G c.(9409-9411)aAt>aGt p.N3137S USH2A_ENST00000307340.3_Missense_Mutation_p.N3137S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3137 Fibronectin type-III 18. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AATGATGCCATTTGGCTTCCG 0.398000 HNSCC(13;0.011) 3 109 0 0 0.004672 0 0 MYH15 22989 broad.mit.edu 37 3 108189605 108189605 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:108189605G>T ENST00000273353.3 - 14 1439 c.1383C>A c.(1381-1383)gcC>gcA p.A461A NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 461 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.A461A(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TTGACAGCTTGGCATCCAGGG 0.448000 10 43 4.68919e-08 6.70461e-08 0.008291 1 0 LMNB2 84823 broad.mit.edu 37 19 2444466 2444466 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:2444466C>G ENST00000325327.3 - 2 399 c.337G>C c.(337-339)Gag>Cag p.E113Q LMNB2_ENST00000582871.1_Missense_Mutation_p.E93Q Q03252 LMNB2_HUMAN lamin B2 93 Coil 1B.|Rod. nuclear inner membrane structural molecule activity p.E93Q(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGGCACGCTCTCGAGCCGTC 0.627000 6 47 0 0 0.001168 0 0 OLFM4 10562 broad.mit.edu 37 13 53608516 53608516 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:53608516C>T ENST00000219022.2 + 2 316 c.238C>T c.(238-240)Cgt>Tgt p.R80C NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 80 cell adhesion extracellular space p.R80C(1) breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) CGTGGATGACCGTGGGACCTG 0.478000 8 90 0 0 0.004482 0 0 HOOK1 51361 broad.mit.edu 37 1 60287598 60287598 + Silent SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:60287598A>T ENST00000371208.3 + 2 389 c.132A>T c.(130-132)gcA>gcT p.A44A HOOK1_ENST00000395561.2_Silent_p.A2A|HOOK1_ENST00000465876.1_3'UTR NM_015888.4 NP_056972.1 Q9UJC3 HOOK1_HUMAN hook microtubule-tethering protein 1 44 Sufficient for interaction with microtubules. early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding p.A44A(1) biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1) 29 all_cancers(7;0.000129) TTGCCATGGCACAAGTTCTTC 0.403000 11 45 0 0 0.001855 0 0 HNF4A 3172 broad.mit.edu 37 20 43058194 43058194 + Silent SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:43058194A>T ENST00000316099.3 + 10 1403 c.1314A>T c.(1312-1314)ccA>ccT p.P438P HNF4A_ENST00000457232.1_Silent_p.P406P|HNF4A_ENST00000415691.1_Silent_p.P428P NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 438 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding p.P438P(1)|p.P416P(1) endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CCTCACCGCCAGGTGGCTCAG 0.612000 41 116 0 0 0.002522 0 0 LRRC10 376132 broad.mit.edu 37 12 70004436 70004436 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:70004436G>T ENST00000361484.3 - 1 506 c.183C>A c.(181-183)gaC>gaA p.D61E NM_201550.2 NP_963844.2 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 61 nucleus p.D61E(1) large_intestine(2)|lung(6) 8 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) TGAGGTGGTTGTCGCTCAGGT 0.587000 14 24 4.7546e-09 7.08496e-09 0.004007 1 0 RAPGEF4 11069 broad.mit.edu 37 2 173825890 173825890 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:173825890G>C ENST00000264111.6 + 8 816 c.629G>C c.(628-630)cGa>cCa p.R210P RAPGEF4_ENST00000540783.1_Missense_Mutation_p.R58P|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.R58P|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.R40P|RAPGEF4_ENST00000535187.1_5'UTR|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.R211P|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.R211P|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.R67P|RAPGEF4_ENST00000473043.1_3'UTR Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 211 blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity p.R211P(1) breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) AAAATTTTACGAAATGCCATT 0.428000 8 186 0 0 0.008291 0 0 LPIN3 64900 broad.mit.edu 37 20 39984671 39984671 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:39984671G>A ENST00000373257.3 + 14 1891 c.1800G>A c.(1798-1800)caG>caA p.Q600Q NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 600 C-LIP. fatty acid metabolic process nucleus phosphatidate phosphatase activity p.Q600Q(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) CCTCCGATCAGATCGTAAGTG 0.592000 6 74 0 0 0.001168 0 0 CCNA1 8900 broad.mit.edu 37 13 37012875 37012875 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:37012875G>T ENST00000418263.1 + 5 1111 c.761G>T c.(760-762)gGg>gTg p.G254V CCNA1_ENST00000255465.4_Missense_Mutation_p.G255V|CCNA1_ENST00000440264.1_Missense_Mutation_p.G211V|CCNA1_ENST00000449823.1_Missense_Mutation_p.G211V NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 255 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding p.G255V(1) breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) GTGGAGGTTGGGGAAGAATAT 0.502000 8 57 1.26484e-09 1.91573e-09 0.003080 1 0 IGHV3-53 28420 broad.mit.edu 37 14 107048872 107048872 + RNA SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:107048872T>A ENST00000390627.2 - 0 368 ATGTAGTTGCTACTGACGGTG 0.587000 30 110 0 0 0.002222 0 0 ZNF208 7757 broad.mit.edu 37 19 22155565 22155565 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:22155565G>T ENST00000397126.4 - 4 2419 c.2271C>A c.(2269-2271)gcC>gcA p.A757A ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 p.A657A(2)|p.A757A(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) ACCACTTATAGGCTTTGCCAC 0.368000 19 28 3.83957e-06 5.03849e-06 0.002780 1 0 RARA 5914 broad.mit.edu 37 17 38510598 38510598 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:38510598G>A ENST00000254066.5 + 7 1307 c.852G>A c.(850-852)atG>atA p.M284I RARA_ENST00000420042.1_3'UTR|RARA_ENST00000425707.3_Missense_Mutation_p.M187I|RARA_ENST00000394081.3_Missense_Mutation_p.M279I|RARA_ENST00000394089.2_Missense_Mutation_p.M284I|RARA_ENST00000394086.3_Missense_Mutation_p.M300I NM_000964.3 NP_000955.1 P10276 RARA_HUMAN retinoic acid receptor, alpha 284 Ligand-binding. apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus cytoplasm|nucleoplasm chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding p.M284I(1) breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2) 16 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00143) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799) AGGACACCATGACCTTCTCGG 0.632000 T """PML, ZNF145, TIF1, NUMA1, NPM1""" APL 6 49 0 0 0.001168 0 0 HFM1 164045 broad.mit.edu 37 1 91790257 91790257 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:91790257C>T ENST00000370425.3 - 21 2500 c.2402G>A c.(2401-2403)aGt>aAt p.S801N HFM1_ENST00000370424.3_Missense_Mutation_p.S480N|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.S33N NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 801 SEC63. ATP binding|ATP-dependent helicase activity|nucleic acid binding p.S801N(1) breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TTCTTTTCCACTGATTGTATA 0.289000 5 48 0 0 0.001168 0 0 TAF1L 138474 broad.mit.edu 37 9 32634689 32634689 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:32634689C>A ENST00000242310.4 - 1 978 c.889G>T c.(889-891)Gtg>Ttg p.V297L RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 297 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.V297L(1) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GAGCATTCCACCTCCTGGATC 0.498000 56 149 3.37043e-27 6.47559e-27 0.003610 1 0 NEK5 341676 broad.mit.edu 37 13 52693477 52693477 + Silent SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:52693477T>A ENST00000355568.4 - 4 331 c.192A>T c.(190-192)gtA>gtT p.V64V NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 64 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity p.V121V(1)|p.V64V(1) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) TGAAGAAGGCTACAATGTTGG 0.303000 5 35 0 0 0.000602 0 0 SMAD3 4088 broad.mit.edu 37 15 67473677 67473677 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr15:67473677C>T ENST00000327367.4 + 6 1067 c.757C>T c.(757-759)Cca>Tca p.P253S SMAD3_ENST00000540846.2_Missense_Mutation_p.P148S|SMAD3_ENST00000537194.2_Missense_Mutation_p.P58S|SMAD3_ENST00000439724.3_Missense_Mutation_p.P209S NM_005902.3 NP_005893.1 P84022 SMAD3_HUMAN SMAD family member 3 253 MH2. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding p.P209S(1)|p.P253S(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) CGCCTCGCAGCCATCCATGAC 0.597000 4 37 0 0 0.000248 0 0 SPATA32 124783 broad.mit.edu 37 17 43333282 43333282 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:43333282C>T ENST00000543122.1 - 6 985 c.204G>A c.(202-204)acG>acA p.T68T MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|SPATA32_ENST00000331780.4_Silent_p.T89T|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA spermatogenesis associated 32 p.T89T(1) AGTTGGCTTCCGTGTCCAGCT 0.567000 42 111 0 0 0.002522 0 0 PCDH10 57575 broad.mit.edu 37 4 134073017 134073017 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:134073017C>A ENST00000264360.4 + 1 2548 c.1722C>A c.(1720-1722)atC>atA p.I574I NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 574 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.I574I(1) NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CCCCTGCCATCGTGGCGCCTC 0.677000 9 64 2.17888e-05 2.76524e-05 0.006214 1 0 NOD1 10392 broad.mit.edu 37 7 30490920 30490920 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:30490920G>T ENST00000222823.4 - 6 2638 c.2113C>A c.(2113-2115)Cgg>Agg p.R705R NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 705 activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity p.R705R(1) breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 AGGGCCAGCCGCTTGGGGAAG 0.627000 28 111 3.73148e-12 6.0314e-12 0.007291 1 0 LOC101927958 101927958 broad.mit.edu 37 2 239140941 239140941 + RNA SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:239140941G>C ENST00000456601.1 + 0 617 TTGAGAAGCAGAAAAGTGTTT 0.502000 17 103 0 0 0.006122 0 0 COL1A1 1277 broad.mit.edu 37 17 48263689 48263689 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:48263689C>T ENST00000225964.5 - 49 4112 c.3994G>A c.(3994-3996)Gat>Aat p.D1332N NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 1332 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding p.D1332N(1) COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) TGGAATCCATCGGTCATGCTC 0.572000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 6 108 0 0 0.001984 0 0 GUSB 2990 broad.mit.edu 37 7 65429376 65429376 + Nonsense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:65429376G>A ENST00000304895.4 - 11 1853 c.1723C>T c.(1723-1725)Caa>Taa p.Q575* GUSB_ENST00000345660.6_Nonsense_Mutation_p.Q524*|GUSB_ENST00000421103.1_Nonsense_Mutation_p.Q429* NM_000181.3 NP_000172.2 P08236 BGLR_HUMAN glucuronidase, beta 575 glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding p.Q575*(1) breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1) 20 CTGCGTTTTTGATCCAGACCC 0.443000 12 87 0 0 0.000978 0 0 ERCC8 1161 broad.mit.edu 37 5 60195463 60195463 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:60195463C>A ENST00000426742.2 - 9 969 c.535G>T c.(535-537)Gtt>Ttt p.V179F ERCC8_ENST00000543101.1_Missense_Mutation_p.V84F|ERCC8_ENST00000265038.5_Missense_Mutation_p.V237F|ERCC8_ENST00000462279.1_5'UTR Q13216 ERCC8_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 8 237 positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction protein binding|protein complex binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 14 Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077) CCTGATTCAACAGCTTGTGAC 0.318000 42 103 9.9191e-30 1.94171e-29 0.008740 1 0 AURKC 6795 broad.mit.edu 37 19 57744004 57744004 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:57744004G>A ENST00000302804.7 + 4 577 c.391G>A c.(391-393)Gag>Aag p.E131K AURKC_ENST00000599062.1_Missense_Mutation_p.E128K|AURKC_ENST00000415300.2_Missense_Mutation_p.E112K|AURKC_ENST00000448930.1_Missense_Mutation_p.E97K|AURKC_ENST00000598785.1_Missense_Mutation_p.E97K NM_001015878.1 NP_001015878.1 Q9UQB9 AURKC_HUMAN aurora kinase C 131 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity p.E131K(1)|p.E97K(1) breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) GCTCTACAAGGAGCTGCAGAA 0.537000 6 66 0 0 0.001168 0 0 SSX7 280658 broad.mit.edu 37 X 52677375 52677375 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:52677375G>A ENST00000298181.5 - 6 560 c.402C>T c.(400-402)aaC>aaT p.N134N NM_173358.2 NP_775494.1 Q7RTT5 SSX7_HUMAN synovial sarcoma, X breakpoint 7 134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding p.N134N(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1) 16 Ovarian(276;0.236) GTTTCCCATCGTTCTGTGAGC 0.468000 76 136 0 0 0.003610 0 0 RNF20 56254 broad.mit.edu 37 9 104319843 104319843 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:104319843G>C ENST00000389120.3 + 16 2437 c.2347G>C c.(2347-2349)Gag>Cag p.E783Q NM_019592.5 NP_062538.5 Q5VTR2 BRE1A_HUMAN ring finger protein 20, E3 ubiquitin protein ligase 783 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding p.E783Q(1) breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) AGAGAAGGAGGAGCTGGCAGA 0.423000 5 41 0 0 0.000602 0 0 TOR3A 64222 broad.mit.edu 37 1 179054768 179054768 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:179054768G>A ENST00000367627.3 + 3 1131 c.379G>A c.(379-381)Gag>Aag p.E127K TOR3A_ENST00000352445.6_Missense_Mutation_p.E127K NM_022371.3 NP_071766.2 Q9H497 TOR3A_HUMAN torsin family 3, member A 127 chaperone mediated protein folding requiring cofactor endoplasmic reticulum ATP binding p.E127K(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1) 13 CTTAGGCTTAGAGTGGGACCT 0.542000 17 287 0 0 0.004990 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125405454 125405454 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:125405454G>C ENST00000431078.1 + 13 2357 c.1993G>C c.(1993-1995)Gag>Cag p.E665Q NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 665 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding p.E665Q(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GGAACAGCTGGAGGCCGTGAT 0.622000 3 12 0 0 0.004672 0 0 LAMB1 3912 broad.mit.edu 37 7 107605093 107605093 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:107605093G>T ENST00000393561.1 - 12 1858 c.1674C>A c.(1672-1674)caC>caA p.H558Q LAMB1_ENST00000222399.6_Missense_Mutation_p.H534Q|LAMB1_ENST00000393560.1_Missense_Mutation_p.H534Q P07942 LAMB1_HUMAN laminin, beta 1 534 Laminin IV type B. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent p.H534Q(1) NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCCAATCATGTGAGGCCGGC 0.562000 19 58 1.56452e-12 2.54868e-12 0.007413 1 0 NELL1 4745 broad.mit.edu 37 11 21581833 21581833 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:21581833T>C ENST00000298925.5 + 18 2122 c.1969T>C c.(1969-1971)Tcc>Ccc p.S657P NELL1_ENST00000325319.5_Missense_Mutation_p.S572P|NELL1_ENST00000532434.1_Missense_Mutation_p.S582P|NELL1_ENST00000529218.1_Intron|NELL1_ENST00000357134.5_Missense_Mutation_p.S629P Q92832 NELL1_HUMAN NEL-like 1 (chicken) 629 VWFC 3. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity p.S629P(1) NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 CTCTGGGCCCTCCTGCTCTGG 0.547000 23 52 0 0 0.002299 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072298 17072298 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:17072298G>T ENST00000359963.3 - 1 1402 c.1143C>A c.(1141-1143)acC>acA p.T381T NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 381 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.T381T(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GCCCCTGGGTGGTGGCTCCCC 0.572000 16 88 1.02788e-11 1.64382e-11 0.004990 1 0 AKR1B15 441282 broad.mit.edu 37 7 134260654 134260654 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:134260654C>A ENST00000457545.2 + 8 978 c.718C>A c.(718-720)Ccc>Acc p.P240T AKR1B15_ENST00000423958.1_Missense_Mutation_p.P212T NM_001080538.2 NP_001074007.2 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 240 oxidoreductase activity p.P258T(1)|p.P240T(1)|p.P212T(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1) 18 GGCCTACAGCCCCCTGGGCTC 0.478000 8 77 0.000151284 0.000185337 0.001855 1 0 RBM19 9904 broad.mit.edu 37 12 114374902 114374902 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:114374902C>T ENST00000545145.2 - 16 2056 c.1978G>A c.(1978-1980)Ggc>Agc p.G660S RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000261741.5_Missense_Mutation_p.G660S|RBM19_ENST00000392561.3_Missense_Mutation_p.G660S NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 660 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding p.G660S(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) GAGAAGACGCCAACTGGAGCC 0.542000 18 100 0 0 0.008871 0 0 EYS 346007 broad.mit.edu 37 6 66115229 66115229 + Silent SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:66115229A>G ENST00000503581.1 - 6 1431 c.894T>C c.(892-894)tgT>tgC p.C298C EYS_ENST00000370621.3_Silent_p.C298C|EYS_ENST00000370616.2_Silent_p.C298C|EYS_ENST00000370618.3_Silent_p.C298C|EYS_ENST00000342421.5_Silent_p.C298C|EYS_ENST00000393380.2_Silent_p.C298C NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 298 response to stimulus|visual perception extracellular region calcium ion binding p.C298C(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 GCAGAGAAACACAAGGTTTTG 0.368000 25 195 0 0 0.004656 0 0 BCKDHB 594 broad.mit.edu 37 6 80878646 80878646 + Nonsense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:80878646G>T ENST00000545529.1 + 5 560 c.532G>T c.(532-534)Gga>Tga p.G178* BCKDHB_ENST00000356489.5_Nonsense_Mutation_p.G178*|BCKDHB_ENST00000320393.6_Nonsense_Mutation_p.G178*|BCKDHB_ENST00000369760.4_Nonsense_Mutation_p.G178* P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1, beta polypeptide 178 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding p.G178*(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1) 15 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) TTTTAACTGTGGAAGCCTCAC 0.498000 52 97 3.10996e-30 6.10951e-30 0.003610 1 0 CELSR3 1951 broad.mit.edu 37 3 48697225 48697225 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:48697225T>A ENST00000544264.1 - 1 3123 c.2843A>T c.(2842-2844)gAg>gTg p.E948V CELSR3_ENST00000164024.4_Missense_Mutation_p.E948V Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 948 Cadherin 6. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding p.E948V(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GACCATCACCTCCACATAAGT 0.527000 24 76 0 0 0.003330 0 0 TBC1D26 353149 broad.mit.edu 37 17 15641674 15641674 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:15641674C>A ENST00000437605.2 + 7 610 c.360C>A c.(358-360)atC>atA p.I120I TBC1D26_ENST00000579428.1_Silent_p.I120I|ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000434017.1_RNA NM_178571.4 NP_848666.2 Q86UD7 TBC26_HUMAN TBC1 domain family, member 26 120 Rab-GAP TBC. intracellular Rab GTPase activator activity p.I120I(1) endometrium(1)|large_intestine(1)|lung(4)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078) TTGACAGAATCAAGTCCCAGA 0.502000 21 110 5.26018e-13 8.66259e-13 0.001882 1 0 SLITRK4 139065 broad.mit.edu 37 X 142718172 142718172 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:142718172C>G ENST00000381779.4 - 2 978 c.753G>C c.(751-753)agG>agC p.R251S SLITRK4_ENST00000338017.4_Missense_Mutation_p.R251S|SLITRK4_ENST00000356928.1_Missense_Mutation_p.R251S NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 251 LRRCT 1. integral to membrane p.R251S(1) autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) CTTTTAAAAGCCTTCCATATA 0.443000 14 21 0 0 0.001855 0 0 SLC25A20 788 broad.mit.edu 37 3 48929495 48929495 + Missense_Mutation SNP T T G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:48929495T>G ENST00000319017.4 - 2 314 c.116A>C c.(115-117)cAg>cCg p.Q39P SLC25A20_ENST00000430379.1_Missense_Mutation_p.Q39P|SLC25A20_ENST00000544097.1_5'UTR NM_000387.5 NP_000378.1 O43772 MCAT_HUMAN solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 39 carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation integral to membrane|mitochondrial inner membrane acyl carnitine transporter activity p.Q39P(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) L-Carnitine(DB00583) TGGCTGTGTCTGCAGTCGGAC 0.502000 20 56 0 0 0.001882 0 0 RAG1 5896 broad.mit.edu 37 11 36596039 36596039 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:36596039C>A ENST00000299440.5 + 2 1297 c.1185C>A c.(1183-1185)ccC>ccA p.P395P NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 395 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding p.P395P(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) GGGGCCGGCCCCGCCAACATC 0.483000 Familial Hemophagocytic Lymphohistiocytosis 26 53 1.50538e-07 2.10348e-07 0.006320 1 0 NFKBIZ 64332 broad.mit.edu 37 3 101574011 101574011 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:101574011C>G ENST00000326172.5 + 7 1664 c.1549C>G c.(1549-1551)Ctg>Gtg p.L517V NFKBIZ_ENST00000326151.5_Missense_Mutation_p.L395V|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.L417V NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 517 Interaction with NFKB1/p50 (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.L517V(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 AAGAACACCTCTGCATGTGTG 0.537000 4 70 0 0 0.000602 0 0 ARPC4 10093 broad.mit.edu 37 3 9839447 9839447 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:9839447G>A ENST00000397261.3 + 2 672 c.108G>A c.(106-108)ccG>ccA p.P36P ARPC4_ENST00000433034.1_Silent_p.P55P|ARPC4_ENST00000287613.7_5'UTR|ARPC4_ENST00000498623.2_5'UTR|ARPC4-TTLL3_ENST00000397256.1_Silent_p.P36P NM_005718.4 NP_005709.1 actin related protein 2/3 complex, subunit 4, 20kDa p.P36P(1) breast(1)|lung(1) 2 Medulloblastoma(99;0.227) ACAACAAGCCGGAAGTGGAAG 0.582000 5 39 0 0 0.000602 0 0 NOTCH4 4855 broad.mit.edu 37 6 32163899 32163899 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:32163899C>T ENST00000375023.3 - 30 5465 c.5327G>A c.(5326-5328)cGg>cAg p.R1776Q NOTCH4_ENST00000443903.2_Silent_p.A152A NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1776 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity p.R1776Q(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 CGCTCCTTCCCGCGCCGCCAG 0.672000 4 8 0 0 0.000248 0 0 PRSS16 10279 broad.mit.edu 37 6 27222785 27222785 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:27222785G>C ENST00000230582.3 + 11 1366 c.1351G>C c.(1351-1353)Gtg>Ctg p.V451L PRSS16_ENST00000421826.2_Missense_Mutation_p.V194L|PRSS16_ENST00000377456.2_3'UTR NM_005865.3 NP_005856.1 Q9NQE7 TSSP_HUMAN protease, serine, 16 (thymus) 451 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity p.V451L(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 CCCCTGGCATGTGCTAAGTGT 0.547000 50 191 0 0 0.003610 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140764644 140764644 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:140764644G>T ENST00000518325.1 + 1 2178 c.2178G>T c.(2176-2178)caG>caT p.Q726H PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018920.2 NP_061743.1 p.Q726H(1) NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCTGCTGCAGGCTTCAGAAG 0.632000 12 45 2.27111e-07 3.14695e-07 0.001368 1 0 TMEM176B 28959 broad.mit.edu 37 7 150490383 150490383 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:150490383G>A ENST00000447204.2 - 5 765 c.393C>T c.(391-393)ctC>ctT p.L131L TMEM176B_ENST00000450753.2_Silent_p.L94L|TMEM176B_ENST00000326442.5_Silent_p.L131L|TMEM176B_ENST00000429904.2_Silent_p.L131L|TMEM176B_ENST00000434545.1_Silent_p.L131L|TMEM176B_ENST00000492607.1_Silent_p.L131L NM_014020.3 NP_054739.3 Q3YBM2 T176B_HUMAN transmembrane protein 176B 131 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane p.L131L(1) cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTGCCAGGGTGAGCAGGCTGG 0.517000 13 26 0 0 0.002450 0 0 TENM3 55714 broad.mit.edu 37 4 183676381 183676381 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:183676381A>G ENST00000511685.1 + 22 4984 c.4861A>G c.(4861-4863)Agt>Ggt p.S1621G TENM3_ENST00000406950.2_Missense_Mutation_p.S1621G|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 p.S1621G(1) AGCCACTAAAAGTGATGAAAC 0.313000 3 33 0 0 0.004672 0 0 CUBN 8029 broad.mit.edu 37 10 16990513 16990513 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:16990513C>T ENST00000377833.4 - 35 5238 c.5173G>A c.(5173-5175)Ggg>Agg p.G1725R NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1725 CUB 11. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity p.G1725R(1) breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGGAAACCCCCAGCACTGATG 0.512000 7 43 0 0 0.001984 0 0 KCND2 3751 broad.mit.edu 37 7 119915076 119915076 + Silent SNP C C T rs138118192 by1000genomes TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:119915076C>T ENST00000331113.4 + 1 1355 c.390C>T c.(388-390)ggC>ggT p.G130G NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 130 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding p.G130G(1) NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) AAATCATCGGCGACTGCTGTT 0.587000 22 208 0 0 0.002299 0 0 SLC43A3 29015 broad.mit.edu 37 11 57177518 57177518 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:57177518G>A ENST00000395123.2 - 12 1441 c.1137C>T c.(1135-1137)ttC>ttT p.F379F SLC43A3_ENST00000352187.1_Silent_p.F379F|SLC43A3_ENST00000529554.1_Silent_p.F379F|SLC43A3_ENST00000533524.1_Silent_p.F392F|RP11-872D17.8_ENST00000529411.1_Silent_p.F23F|SLC43A3_ENST00000395124.1_Silent_p.F379F NM_001278201.1|NM_014096.2 NP_001265130.1|NP_054815.2 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 379 transmembrane transport integral to membrane p.F379F(1) central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 CACAGAGGGCGAAGCCCAGGC 0.617000 4 53 0 0 0.000248 0 0 C3orf35 339883 broad.mit.edu 37 3 37458935 37458935 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:37458935G>T ENST00000328376.5 + 5 1157 c.178G>T c.(178-180)Ggc>Tgc p.G60C C3orf35_ENST00000425932.1_Missense_Mutation_p.G60C|C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000425564.2_Missense_Mutation_p.G60C|C3orf35_ENST00000426078.1_Missense_Mutation_p.G60C|C3orf35_ENST00000452017.2_Missense_Mutation_p.G60C NM_178339.2 NP_848029.2 Q8IVJ8 APRG1_HUMAN chromosome 3 open reading frame 35 60 integral to membrane p.G60C(1) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 11 GGGCCTGCAGGGCAGTGCTCA 0.463000 13 52 6.31663e-08 8.98509e-08 0.003163 1 0 TGFB1I1 7041 broad.mit.edu 37 16 31485036 31485036 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:31485036G>A ENST00000394863.3 + 3 293 c.163G>A c.(163-165)Gac>Aac p.D55N TGFB1I1_ENST00000567607.1_Missense_Mutation_p.D38N|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.D38N|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.D38N NM_001042454.2 NP_001035919.1 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced transcript 1 55 Interaction with PTK2B.|Transcription activation (By similarity). androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding p.D55N(1)|p.D38N(1) lung(8)|upper_aerodigestive_tract(1) 9 AGCCTCGGGGGACAAGGACCA 0.637000 8 103 0 0 0.003080 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70744859 70744859 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:70744859G>T ENST00000260126.3 - 2 756 c.50C>A c.(49-51)gCg>gAg p.A17E SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.A17E|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.A17E NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 17 integral to membrane|plasma membrane transporter activity p.A17E(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) AGTGGCCGGCGCCTCCAGCTG 0.632000 OREG0018815 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 48 8.10497e-08 1.14895e-07 0.001523 1 0 TCEB3B 51224 broad.mit.edu 37 18 44560667 44560667 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr18:44560667C>T ENST00000332567.4 - 1 1321 c.969G>A c.(967-969)cgG>cgA p.R323R KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 323 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding p.R323R(1) breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TTCCTGGGTCCCGGCCGTCTA 0.612000 36 103 0 0 0.003271 0 0 CADPS 8618 broad.mit.edu 37 3 62478014 62478014 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:62478014C>A ENST00000383710.4 - 20 3184 c.2835G>T c.(2833-2835)tgG>tgT p.W945C CADPS_ENST00000283269.9_Missense_Mutation_p.W955C|CADPS_ENST00000357948.3_Missense_Mutation_p.W915C NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 945 Interaction with DRD2.|MHD1. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding p.W945C(1)|p.W955C(1) breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) GAAAACTGTCCCATGTGTCTG 0.453000 106 266 1.94071e-40 3.8861e-40 0.003610 1 0 RGPD4 285190 broad.mit.edu 37 2 108488503 108488503 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:108488503C>G ENST00000408999.3 + 20 4120 c.4043C>G c.(4042-4044)tCc>tGc p.S1348C RGPD4_ENST00000354986.4_Missense_Mutation_p.S1348C NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1348 RanBD1 2. intracellular transport binding p.S1348C(1) breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 GTTGAAGTATCCAGTGGTGAG 0.393000 29 362 0 0 0.002836 0 0 A4GNT 51146 broad.mit.edu 37 3 137850009 137850009 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:137850009G>T ENST00000236709.3 - 2 291 c.90C>A c.(88-90)ctC>ctA p.L30L NM_016161.2 NP_057245.1 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 30 protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity p.L30L(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7) 16 GCAAACAGAAGAGGCAGCTGG 0.557000 27 61 2.65835e-16 4.67959e-16 0.007291 1 0 RBM24 221662 broad.mit.edu 37 6 17292055 17292055 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:17292055C>A ENST00000379052.5 + 4 652 c.416C>A c.(415-417)cCg>cAg p.P139Q RBM24_ENST00000318204.5_Missense_Mutation_p.P94Q|RBM24_ENST00000425446.2_Missense_Mutation_p.P81Q|RBM24_ENST00000508508.1_3'UTR NM_001143942.1 NP_001137414.1 Q9BX46 RBM24_HUMAN RNA binding motif protein 24 139 cell differentiation|regulation of mRNA stability|regulation of myotube differentiation cytoplasm|nucleus mRNA 3'-UTR binding|nucleotide binding p.P94Q(1)|p.P139Q(1) endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 13 Breast(50;0.0615)|Ovarian(93;0.0733) all_hematologic(90;0.062) all cancers(50;0.131)|Epithelial(50;0.15) CACGTCCAGCCGACAGCAGCT 0.577000 41 120 1.32136e-16 2.33843e-16 0.008740 1 0 OR8B3 390271 broad.mit.edu 37 11 124266395 124266395 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:124266395T>A ENST00000354597.3 - 1 869 c.853A>T c.(853-855)Aat>Tat p.N285Y NM_001005467.1 NP_001005467.1 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, member 3 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N285Y(1) kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) ATGAGAGGATTGAGCATGGGC 0.373000 35 132 0 0 0.003755 0 0 ABCF3 55324 broad.mit.edu 37 3 183907380 183907380 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:183907380C>A ENST00000429586.2 + 13 1334 c.1149C>A c.(1147-1149)gaC>gaA p.D383E EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.D377E NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 383 ABC transporter 1. ATP binding|ATPase activity p.D383E(1) breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCTCCCACGACCGCAACTTCT 0.587000 6 51 5.9392e-07 8.08784e-07 0.001168 1 0 TTN 7273 broad.mit.edu 37 2 179411856 179411856 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:179411856A>T ENST00000589042.1 - 340 94620 c.94396T>A c.(94396-94398)Tgc>Agc p.C31466S TTN_ENST00000359218.5_Missense_Mutation_p.C22526S|TTN_ENST00000342175.6_Missense_Mutation_p.C22593S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.C29825S|TTN_ENST00000342992.6_Missense_Mutation_p.C28898S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.C22401S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29825 Ig-like 140. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.C22526R(1)|p.C22526S(1)|p.C28898S(1)|p.C28896S(1)|p.C28896R(1)|p.C22593S(1)|p.C22593R(1)|p.C28898R(1)|p.C22401S(1)|p.C22401R(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGTAGTTGCACTCTAAGCAT 0.423000 45 436 0 0 0.003610 0 0 NTF3 4908 broad.mit.edu 37 12 5603685 5603685 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:5603685C>A ENST00000423158.3 + 2 556 c.344C>A c.(343-345)cCg>cAg p.P115Q NTF3_ENST00000331010.6_Missense_Mutation_p.P102Q|NTF3_ENST00000535299.1_Intron NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 102 signal transduction extracellular region growth factor activity|neurotrophin receptor binding p.P102Q(1)|p.P102L(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 TACAACTCACCGCGGGTCCTG 0.642000 31 52 0.000409698 0.000492825 0.002445 1 0 PTCD1 26024 broad.mit.edu 37 7 99022694 99022694 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:99022694G>C ENST00000292478.4 - 6 1711 c.1461C>G c.(1459-1461)atC>atG p.I487M PTCD1_ENST00000555673.1_Missense_Mutation_p.I536M|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.I536M NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 p.I487I(1)|p.I487M(1) endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) TGAGGGTCCTGATGTCGGGCT 0.647000 4 95 0 0 0.000602 0 0 CXCR2 3579 broad.mit.edu 37 2 219000010 219000010 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:219000010C>T ENST00000318507.2 + 3 913 c.486C>T c.(484-486)gtC>gtT p.V162V NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 162 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity p.V162V(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 GCTACTTGGTCAAATTCATAT 0.532000 25 42 0 0 0.002780 0 0 CDH12 1010 broad.mit.edu 37 5 21975201 21975201 + Splice_Site SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:21975201C>A ENST00000382254.1 - 6 1611 c.526_splice c.e6+1 p.V175_splice CDH12_ENST00000522262.1_Splice_Site_p.V175_splice|CDH12_ENST00000504376.2_Splice_Site_p.V175_splice NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 175 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.V175V(1) NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 CCTACTCACCCACAGGAGACA 0.358000 HNSCC(59;0.17) 57 116 4.83677e-39 9.67355e-39 0.003610 1 0 PRSS57 400668 broad.mit.edu 37 19 694911 694911 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:694911A>T ENST00000329267.7 - 2 168 c.139T>A c.(139-141)Tac>Aac p.Y47N NM_214710.3 NP_999875.1 Q6UWY2 PRS57_HUMAN protease, serine, 57 47 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.Y47N(1) central_nervous_system(1)|lung(5) 6 GATGCCATGTAGGGCCTGGAG 0.701000 4 11 0 0 0.000248 0 0 TP53 7157 broad.mit.edu 37 17 7577096 7577096 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:7577096T>A ENST00000420246.2 - 8 974 c.842A>T c.(841-843)gAc>gTc p.D281V TP53_ENST00000359597.4_Missense_Mutation_p.D281V|TP53_ENST00000269305.4_Missense_Mutation_p.D281V|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.D281V|TP53_ENST00000445888.2_Missense_Mutation_p.D281V NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 281 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.D281G(10)|p.0?(8)|p.D281V(5)|p.?(2)|p.D281fs*63(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGTGCGCCGGTCTCTCCCAGG 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 10 29 0 0 0.008291 0 0 DNAH11 8701 broad.mit.edu 37 7 21640486 21640486 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:21640486G>T ENST00000328843.6 + 16 3224 c.3193G>T c.(3193-3195)Gat>Tat p.D1065Y DNAH11_ENST00000409508.3_Missense_Mutation_p.D1065Y Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1065 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.D1065Y(1) NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CGATGAAATGGATGCTCATGC 0.438000 Kartagener syndrome 62 187 1.1362e-29 2.22154e-29 0.003610 1 0 CAB39L 81617 broad.mit.edu 37 13 49951249 49951249 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:49951249T>C ENST00000355854.4 - 3 627 c.130A>G c.(130-132)Aaa>Gaa p.K44E CAB39L_ENST00000410043.1_Missense_Mutation_p.K44E|CAB39L_ENST00000409308.1_Missense_Mutation_p.K44E|CAB39L_ENST00000347776.5_Missense_Mutation_p.K44E NM_030925.2 NP_112187.2 Q9H9S4 CB39L_HUMAN calcium binding protein 39-like 44 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol protein binding p.K44E(1) breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1) 12 Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226) TGCAGTGATTTAGACACTTCT 0.393000 15 62 0 0 0.003163 0 0 MUC2 4583 broad.mit.edu 37 11 1088725 1088725 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:1088725C>G ENST00000441003.2 + 26 3537 c.3510C>G c.(3508-3510)gaC>gaG p.D1170E MUC2_ENST00000359061.5_Missense_Mutation_p.D1170E NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1170 inner mucus layer|outer mucus layer protein binding p.D1170E(2) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GCCCCAAGGACAGGCCCATCT 0.622000 5 14 0 0 0.001168 0 0 OXSM 54995 broad.mit.edu 37 3 25832986 25832986 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:25832986G>T ENST00000280701.3 + 2 574 c.475G>T c.(475-477)Gtt>Ttt p.V159F OXSM_ENST00000449808.1_Intron|OXSM_ENST00000420173.2_Missense_Mutation_p.V159F NM_017897.2 NP_060367.1 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial 159 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity p.V159F(1) breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 TCCTCTTGAAGTTGTTTCTGA 0.428000 9 120 7.48243e-07 1.01312e-06 0.006214 1 0 ROS1 6098 broad.mit.edu 37 6 117706999 117706999 + Silent SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:117706999G>C ENST00000368508.3 - 15 2349 c.2151C>G c.(2149-2151)ctC>ctG p.L717L ROS1_ENST00000368507.3_Silent_p.L712L|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 717 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity p.L717L(2) TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CACTGTAGTAGAGGCTGTTGT 0.403000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 11 73 0 0 0.008291 0 0 EPHA7 2045 broad.mit.edu 37 6 93967841 93967841 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:93967841G>T ENST00000369303.4 - 11 2270 c.2086C>A c.(2086-2088)Cat>Aat p.H696N NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 696 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity p.H696N(1) NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CCTTCCAAATGGACAACATTC 0.353000 16 84 3.41278e-10 5.28472e-10 0.004990 1 0 LYST 1130 broad.mit.edu 37 1 235945360 235945360 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:235945360C>A ENST00000389794.3 - 15 5064 c.4890G>T c.(4888-4890)atG>atT p.M1630I LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.M1630I Q99698 LYST_HUMAN lysosomal trafficking regulator 1630 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding p.M1630I(1) NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TTCTTGGAAGCATAAAATCCA 0.318000 14 30 1.49906e-05 1.90978e-05 0.002450 1 0 ZNF268 10795 broad.mit.edu 37 12 133768558 133768558 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:133768558G>T ENST00000542711.2 + 3 326 c.98G>T c.(97-99)tGc>tTc p.C33F ZNF268_ENST00000228289.5_Silent_p.V142V|CTD-2140B24.4_ENST00000540096.2_Silent_p.V307V|ZNF268_ENST00000592241.1_Silent_p.V75V|ZNF268_ENST00000542986.2_Silent_p.V127V|ZNF268_ENST00000416488.1_Silent_p.V307V|ZNF268_ENST00000537565.1_Intron|ZNF268_ENST00000541211.2_Missense_Mutation_p.C100F|ZNF268_ENST00000536435.2_Silent_p.V142V|ZNF268_ENST00000541009.2_Silent_p.V142V|ZNF268_ENST00000539248.2_Intron|ZNF268_ENST00000536899.2_Intron NM_001165886.1 NP_001159358.1 Q14587 ZN268_HUMAN zinc finger protein 268 0 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.V142V(1) NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1) 24 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000215)|all_epithelial(31;0.096) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) TGTGTATGGTGCAGGCCCAAG 0.398000 40 96 2.27781e-18 4.10996e-18 0.003610 1 0 PRSS35 167681 broad.mit.edu 37 6 84233730 84233730 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:84233730G>C ENST00000536636.1 + 3 915 c.570G>C c.(568-570)aaG>aaC p.K190N PRSS35_ENST00000369700.3_Missense_Mutation_p.K190N NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 190 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.K190N(1) breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) GGTTGTTGAAGATGAGGAATA 0.473000 39 66 0 0 0.006999 0 0 KIF7 374654 broad.mit.edu 37 15 90172699 90172699 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr15:90172699G>T ENST00000394412.3 - 17 3500 c.3424C>A c.(3424-3426)Ctg>Atg p.L1142M NM_198525.2 NP_940927.2 Q2M1P5 KIF7_HUMAN kinesin family member 7 1142 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding p.L629M(1)|p.L1142M(1) central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 25 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) TGCCGCTCCAGGGCCACCTCC 0.637000 15 38 8.60227e-14 1.44095e-13 0.004007 1 0 SPAM1 6677 broad.mit.edu 37 7 123594379 123594379 + Missense_Mutation SNP T T G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:123594379T>G ENST00000340011.5 + 3 1112 c.755T>G c.(754-756)tTg>tGg p.L252W SPAM1_ENST00000402183.2_Missense_Mutation_p.L252W|SPAM1_ENST00000439500.1_Missense_Mutation_p.L252W|SPAM1_ENST00000460182.1_Missense_Mutation_p.L252W|SPAM1_ENST00000223028.7_Missense_Mutation_p.L252W NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 252 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity p.L252W(2) breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) CTCAGCTGGTTGTGGAATGAA 0.413000 5 141 0 0 0.000602 0 0 PPFIA4 8497 broad.mit.edu 37 1 203008326 203008326 + Nonsense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:203008326G>T ENST00000367240.2 + 2 717 c.190G>T c.(190-192)Gag>Tag p.E64* PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000447715.2_Nonsense_Mutation_p.E64* O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 0 cell communication cell surface|cytoplasm protein binding p.E211*(1) NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 TGCCATACACGAGCGGGACCA 0.627000 OREG0014109 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 11 1.23904e-05 1.58704e-05 0.000602 1 0 NCKAP5 344148 broad.mit.edu 37 2 133539711 133539711 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:133539711G>C ENST00000409261.1 - 14 5046 c.4673C>G c.(4672-4674)cCt>cGt p.P1558R NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1558R|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1558 protein binding p.P1558R(2) NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 CTGTAGTTCAGGCTTCTTTTT 0.378000 12 160 0 0 0.000978 0 0 OR4K2 390431 broad.mit.edu 37 14 20345226 20345226 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:20345226C>G ENST00000298642.2 + 1 836 c.800C>G c.(799-801)aCa>aGa p.T267R NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T267R(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGCTTTCTCACAGACAAGATT 0.398000 27 130 0 0 0.005443 0 0 TMED9 54732 broad.mit.edu 37 5 177019267 177019267 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:177019267C>T ENST00000332598.6 + 1 109 c.52C>T c.(52-54)Ctg>Ttg p.L18L NM_017510.4 NP_059980.2 Q9BVK6 TMED9_HUMAN transmembrane emp24 protein transport domain containing 9 18 transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane p.L18L(1) endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2) 10 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGGAACCGGGCTGGGTAGAGT 0.682000 4 7 0 0 0.000602 0 0 CTNNA2 1496 broad.mit.edu 37 2 80773070 80773070 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:80773070G>T ENST00000466387.1 + 15 2146 c.1422G>T c.(1420-1422)caG>caT p.Q474H CTNNA2_ENST00000496558.1_Missense_Mutation_p.Q474H|CTNNA2_ENST00000343114.3_Missense_Mutation_p.Q153H|CTNNA2_ENST00000361291.4_Missense_Mutation_p.Q508H|CTNNA2_ENST00000402739.4_Missense_Mutation_p.Q474H|CTNNA2_ENST00000540488.1_Missense_Mutation_p.Q474H|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Q474H P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 474 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton p.Q474H(1) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CCCGGCCACAGAGCAAAGTTG 0.517000 7 32 0.00198382 0.00231911 0.001984 1 0 EMR2 30817 broad.mit.edu 37 19 14875407 14875407 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:14875407G>A ENST00000315576.3 - 11 1373 c.922C>T c.(922-924)Ctg>Ttg p.L308L EMR2_ENST00000392964.3_Silent_p.L47L|EMR2_ENST00000346057.1_Silent_p.L259L|EMR2_ENST00000594294.1_Silent_p.L259L|EMR2_ENST00000392965.3_Silent_p.L308L|EMR2_ENST00000353005.1_Silent_p.L166L|EMR2_ENST00000392967.2_Silent_p.L308L|EMR2_ENST00000353876.1_Silent_p.L215L|EMR2_ENST00000594076.1_Silent_p.L215L|EMR2_ENST00000601345.1_Silent_p.L308L|EMR2_ENST00000596991.2_Silent_p.L308L|EMR2_ENST00000595839.1_Silent_p.L166L NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 308 cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.L308L(1) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 AGCTCATCCAGCGCCTGTAAG 0.627000 9 15 0 0 0.006214 0 0 CRYM-AS1 400508 broad.mit.edu 37 16 21328462 21328462 + RNA SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:21328462T>C ENST00000444326.1 + 0 578 GAAATTAACATTTTCTGAAAA 0.338000 6 39 0 0 0.001168 0 0 NLRP13 126204 broad.mit.edu 37 19 56424587 56424587 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:56424587T>A ENST00000588751.1 - 5 620 c.596A>T c.(595-597)aAa>aTa p.K199I NLRP13_ENST00000342929.3_Missense_Mutation_p.K199I Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 199 ATP binding p.K199I(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TACGTGGTCTTTAGGCCAACT 0.483000 64 125 0 0 0.003610 0 0 ILVBL 10994 broad.mit.edu 37 19 15230306 15230306 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:15230306G>T ENST00000263383.3 - 8 976 c.837C>A c.(835-837)atC>atA p.I279I ILVBL_ENST00000534378.1_Silent_p.I172I|ILVBL_ENST00000531635.1_5'UTR NM_006844.3 NP_006835.2 A1L0T0 ILVBL_HUMAN ilvB (bacterial acetolactate synthase)-like 279 integral to membrane magnesium ion binding|thiamine pyrophosphate binding|transferase activity p.I279I(1) NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1) 26 CCCGGCTCAGGATCTCCACAC 0.562000 4 35 0.00024832 0.000300665 0.000248 1 0 SORCS3 22986 broad.mit.edu 37 10 106974285 106974285 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:106974285C>T ENST00000369701.3 + 18 2688 c.2461C>T c.(2461-2463)Cct>Tct p.P821S SORCS3_ENST00000369699.4_Missense_Mutation_p.P107S NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 821 integral to membrane neuropeptide receptor activity p.P821S(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TGGAAAAGCCCCTCGGGGCCT 0.567000 12 45 0 0 0.001368 0 0 SORCS1 114815 broad.mit.edu 37 10 108447971 108447971 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:108447971C>T ENST00000263054.6 - 10 1546 c.1539G>A c.(1537-1539)ggG>ggA p.G513G SORCS1_ENST00000369698.1_Silent_p.G48G|SORCS1_ENST00000344440.6_Silent_p.G513G NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 513 integral to membrane neuropeptide receptor activity|protein binding p.G513G(2) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GCACGGGGTCCCCCCTTAGAT 0.488000 17 74 0 0 0.007413 0 0 MUC17 140453 broad.mit.edu 37 7 100676223 100676223 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:100676223G>A ENST00000306151.4 + 3 1590 c.1526G>A c.(1525-1527)gGa>gAa p.G509E NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 509 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.G509E(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCTAGTGAAGGAAGCACTCCA 0.502000 46 730 0 0 0.003610 0 0 DACT3 147906 broad.mit.edu 37 19 47151918 47151918 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:47151918C>A ENST00000391916.2 - 4 1784 c.1711G>T c.(1711-1713)Ggt>Tgt p.G571C DACT3_ENST00000300875.4_Missense_Mutation_p.G346C NM_145056.2 NP_659493.2 Q96B18 DACT3_HUMAN dishevelled-binding antagonist of beta-catenin 3 571 p.G571C(2)|p.G346C(1) lung(1) 1 Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325) ACGAGGCCACCGCTGCCGTCT 0.716000 28 54 9.80776e-20 1.78518e-19 0.006320 1 0 PTGR1 22949 broad.mit.edu 37 9 114359635 114359635 + Missense_Mutation SNP T T G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:114359635T>G ENST00000407693.2 - 2 330 c.68A>C c.(67-69)gAg>gCg p.E23A PTGR1_ENST00000538962.1_Missense_Mutation_p.E23A|PTGR1_ENST00000309195.5_Missense_Mutation_p.E23A|PTGR1_ENST00000238248.3_5'UTR NM_001146108.1 NP_001139580.1 Q14914 PTGR1_HUMAN prostaglandin reductase 1 23 leukotriene metabolic process cytoplasm 15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding p.E23A(1) endometrium(2)|large_intestine(5)|lung(3)|ovary(1) 11 TGTCTTCAACTCAAAGTCACT 0.403000 5 48 0 0 0.001168 0 0 ITGB3 3690 broad.mit.edu 37 17 45376867 45376867 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:45376867C>A ENST00000560629.1 + 11 1849 c.1849C>A c.(1849-1851)Cac>Aac p.H617N ITGB3_ENST00000435993.2_Silent_p.P581P|ITGB3_ENST00000559488.1_Silent_p.P628P P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 0 Cysteine-rich tandem repeats. activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding p.P581Q(1)|p.P628Q(1) breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) AGAAGTGCCCCACCTGCCCAG 0.612000 11 51 0.00829132 0.00952497 0.008291 1 0 SLC3A2 6520 broad.mit.edu 37 11 62655812 62655812 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:62655812G>A ENST00000377892.1 + 13 1857 c.1633G>A c.(1633-1635)Gaa>Aaa p.E545K SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000535296.1_Missense_Mutation_p.E483K|SLC3A2_ENST00000338663.7_Missense_Mutation_p.E413K|SLC3A2_ENST00000377891.2_Missense_Mutation_p.E515K|SLC3A2_ENST00000377889.2_Missense_Mutation_p.E452K|SLC3A2_ENST00000377890.2_Missense_Mutation_p.E514K|SLC3A2_ENST00000536981.1_Missense_Mutation_p.E59K P08195 4F2_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 2 514 blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding p.E545K(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2) 22 GGGCCAGAGTGAAGACCCTGG 0.587000 15 87 0 0 0.004007 0 0 ANK2 287 broad.mit.edu 37 4 114277294 114277294 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:114277294C>G ENST00000357077.4 + 38 7573 c.7520C>G c.(7519-7521)tCc>tGc p.S2507C ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S2474C|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2474 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.S2507C(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCTGTGCGGTCCCGGCTACTC 0.537000 27 91 0 0 0.006320 0 0 PTK2B 2185 broad.mit.edu 37 8 27295394 27295394 + Missense_Mutation SNP A A C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:27295394A>C ENST00000397501.1 + 23 2448 c.1640A>C c.(1639-1641)cAc>cCc p.H547P PTK2B_ENST00000397497.4_Missense_Mutation_p.H293P|PTK2B_ENST00000544172.1_Missense_Mutation_p.H547P|PTK2B_ENST00000346049.5_Missense_Mutation_p.H547P|PTK2B_ENST00000338238.4_Missense_Mutation_p.H547P|PTK2B_ENST00000517339.1_Missense_Mutation_p.H547P|PTK2B_ENST00000420218.2_Missense_Mutation_p.H547P NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 547 Protein kinase. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity p.H547P(2)|p.H293P(1) breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) AACTGCGTGCACAGGTAGGGG 0.587000 5 25 0 0 0.000602 0 0 NDST4 64579 broad.mit.edu 37 4 115767068 115767068 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:115767068C>A ENST00000264363.2 - 10 2704 c.2026G>T c.(2026-2028)Gct>Tct p.A676S NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 676 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity p.A676S(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CGTCTTGGAGCTTCTTCCGAA 0.458000 21 81 0.000132079 0.000162288 0.008871 1 0 FOCAD 54914 broad.mit.edu 37 9 20953055 20953055 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:20953055G>C ENST00000380249.1 + 37 4487 c.4123G>C c.(4123-4125)Gga>Cga p.G1375R FOCAD_ENST00000338382.6_Missense_Mutation_p.G1375R|FOCAD_ENST00000605086.1_Missense_Mutation_p.G811R NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1375 integral to membrane binding p.G1375R(2) CATTACAGGAGGAAAAAAAGG 0.363000 9 45 0 0 0.008291 0 0 LTK 4058 broad.mit.edu 37 15 41797642 41797642 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr15:41797642C>G ENST00000263800.6 - 14 1880 c.1784G>C c.(1783-1785)gGa>gCa p.G595A LTK_ENST00000561619.1_Missense_Mutation_p.G293A|LTK_ENST00000453182.2_Missense_Mutation_p.G465A|LTK_ENST00000355166.5_Missense_Mutation_p.G534A NM_002344.5 NP_002335.2 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase 595 Protein kinase. apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity p.G595A(1)|p.G534A(1) NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1) 26 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) CATGTCCCCTCCAGACATCAG 0.597000 TSP Lung(18;0.14) 8 26 0 0 0.004482 0 0 FLT4 2324 broad.mit.edu 37 5 180048740 180048740 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:180048740G>A ENST00000261937.6 - 13 1900 c.1822C>T c.(1822-1824)Ctc>Ttc p.L608F FLT4_ENST00000393347.3_Missense_Mutation_p.L608F|FLT4_ENST00000502649.1_Missense_Mutation_p.L608F|FLT4_ENST00000424276.2_5'UTR NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 608 Ig-like C2-type 6. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity p.L608F(2)|p.L418F(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TTGCAGTCGAGCAGAAGCGGG 0.657000 11 26 0 0 0.008291 0 0 ZSCAN31 64288 broad.mit.edu 37 6 28297162 28297162 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:28297162C>G ENST00000414429.1 - 6 1202 c.299G>C c.(298-300)cGg>cCg p.R100P ZSCAN31_ENST00000439158.1_Missense_Mutation_p.R100P|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.R100P|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.R100P|ZSCAN31_ENST00000446474.1_Intron zinc finger and SCAN domain containing 31 p.R100L(1)|p.R100P(1) ATGGTGCTCCCGCACCCAGGC 0.562000 112 176 0 0 0.003610 0 0 FASLG 356 broad.mit.edu 37 1 172628540 172628540 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:172628540C>A ENST00000367721.2 + 1 383 c.199C>A c.(199-201)Ccg>Acg p.P67T FASLG_ENST00000340030.3_Missense_Mutation_p.P67T NM_000639.1 NP_000630.1 P48023 TNFL6_HUMAN Fas ligand (TNF superfamily, member 6) 67 Pro-rich. activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity p.P67T(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1) 19 gcctccactaccgctgccacc 0.622000 5 20 0.00116845 0.00137464 0.001168 1 0 QSOX1 5768 broad.mit.edu 37 1 180159623 180159623 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:180159623A>G ENST00000367602.3 + 10 1270 c.1196A>G c.(1195-1197)cAt>cGt p.H399R QSOX1_ENST00000367600.5_Missense_Mutation_p.H399R O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 399 ERV/ALR sulfhydryl oxidase. cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity p.H399R(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 AGTGAGCCGCATTTCCGGGGC 0.562000 71 122 0 0 0.003610 0 0 NOVA1 4857 broad.mit.edu 37 14 26917470 26917470 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:26917470C>A ENST00000539517.2 - 5 1536 c.1219G>T c.(1219-1221)Gcc>Tcc p.A407S NOVA1_ENST00000267422.7_Missense_Mutation_p.A285S|NOVA1_ENST00000465357.2_Missense_Mutation_p.A383S NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 410 Ala-rich. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding p.A407S(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) ATGGCACTGGCAGCTAGGGGA 0.498000 22 40 1.10513e-12 1.80386e-12 0.002299 1 0 AVPR1B 553 broad.mit.edu 37 1 206224651 206224651 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:206224651C>A ENST00000367126.4 + 1 676 c.211C>A c.(211-213)Ctg>Atg p.L71M NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 71 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity p.L71M(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) CCGCATGCACCTGTTCGTGCT 0.677000 26 40 1.17739e-12 1.91991e-12 0.005443 1 0 CALCRL 10203 broad.mit.edu 37 2 188250312 188250312 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:188250312T>C ENST00000409998.1 - 5 792 c.11A>G c.(10-12)aAg>aGg p.K4R CALCRL_ENST00000392370.3_Missense_Mutation_p.K4R|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.K4R Q16602 CALRL_HUMAN calcitonin receptor-like 4 integral to plasma membrane p.K4R(1) endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) CAGGGTACACTTTTTCTCCAT 0.264000 3 37 0 0 0.004672 0 0 NEB 4703 broad.mit.edu 37 2 152507313 152507313 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:152507313G>T ENST00000427231.2 - 53 7204 c.7002C>A c.(7000-7002)tcC>tcA p.S2334S NEB_ENST00000172853.10_Silent_p.S2334S|NEB_ENST00000409198.1_Silent_p.S2334S|NEB_ENST00000604864.1_Silent_p.S2334S|NEB_ENST00000603639.1_Silent_p.S2334S|NEB_ENST00000397345.3_Silent_p.S2334S NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 2334 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle p.S2334S(2) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CTACATTCATGGACAACACAA 0.433000 14 366 1.5842e-08 2.33136e-08 0.001855 1 0 GRIN2A 2903 broad.mit.edu 37 16 9943758 9943758 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:9943758A>T ENST00000396573.2 - 6 1492 c.1183T>A c.(1183-1185)Tcc>Acc p.S395T GRIN2A_ENST00000330684.3_Missense_Mutation_p.S395T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S395T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.S395T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S395T|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S238T NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 395 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.S395T(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCGGAGAAGGACTTGTACCTG 0.582000 6 74 0 0 0.001984 0 0 TBC1D3P5 440419 broad.mit.edu 37 17 25746826 25746826 + RNA SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:25746826G>T ENST00000586223.1 + 0 350 NR_033892.1 AGCAGACACGGGGCCTAAAGC 0.577000 10 44 4.68919e-08 6.70461e-08 0.008291 1 0 F13B 2165 broad.mit.edu 37 1 197026458 197026458 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:197026458G>T ENST00000367412.1 - 6 986 c.943C>A c.(943-945)Cgt>Agt p.R315S NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 315 Sushi 5. blood coagulation extracellular region p.R315S(1)|p.R315C(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TCTTCACAACGTATTTCTGCT 0.353000 32 142 3.90053e-15 6.73764e-15 0.002445 1 0 NALCN 259232 broad.mit.edu 37 13 101714351 101714351 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:101714351C>A ENST00000251127.6 - 41 4805 c.4724G>T c.(4723-4725)tGg>tTg p.W1575L NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1575 integral to membrane sodium channel activity|voltage-gated ion channel activity p.W1575L(1) NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CTTCTTGAGCCACATGCGGAT 0.622000 20 44 7.41877e-09 1.09761e-08 0.001882 1 0 MUC16 94025 broad.mit.edu 37 19 9059073 9059073 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:9059073G>T ENST00000397910.4 - 3 28576 c.28373C>A c.(28372-28374)tCc>tAc p.S9458Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9460 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S9458Y(1)|p.S5091Y(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GACAGGAGAGGAGTGGCTACT 0.483000 33 87 2.46105e-21 4.54938e-21 0.002096 1 0 KIAA1211 57482 broad.mit.edu 37 4 57193889 57193889 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:57193889C>T ENST00000504228.1 + 9 3726 c.3621C>T c.(3619-3621)ccC>ccT p.P1207P KIAA1211_ENST00000541073.1_Silent_p.P1200P|KIAA1211_ENST00000264229.6_Silent_p.P1207P Q6ZU35 K1211_HUMAN KIAA1211 1207 p.P1207P(1) endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) ATGCTGCCCCCGTGTCAACAG 0.527000 29 131 0 0 0.003755 0 0 TECPR2 9895 broad.mit.edu 37 14 102964478 102964478 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:102964478G>T ENST00000359520.7 + 20 4346 c.4120G>T c.(4120-4122)Ggc>Tgc p.G1374C NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 1374 protein binding p.G1374C(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 GGGCCCGCCCGGCTACCTCCT 0.622000 25 55 6.38683e-12 1.02634e-11 0.008361 1 0 AKR1D1 6718 broad.mit.edu 37 7 137792305 137792305 + Missense_Mutation SNP A A C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:137792305A>C ENST00000242375.3 + 7 876 c.834A>C c.(832-834)gaA>gaC p.E278D AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Missense_Mutation_p.E237D|AKR1D1_ENST00000432161.1_Missense_Mutation_p.E278D NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 278 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 TTAATCTTGAAAGGATCAAAG 0.358000 3 107 0 0 0.000248 0 0 RBM48 84060 broad.mit.edu 37 7 92164096 92164096 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:92164096A>G ENST00000481551.1 + 4 870 c.829A>G c.(829-831)Agg>Ggg p.R277G RBM48_ENST00000265732.5_Missense_Mutation_p.R277G Q5RL73 CG064_HUMAN RNA binding motif protein 48 277 nucleotide binding p.R277G(1) ATTTATGCCTAGGACAACACA 0.418000 8 40 0 0 0.003080 0 0 ZNF521 25925 broad.mit.edu 37 18 22806254 22806254 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr18:22806254C>A ENST00000361524.3 - 4 1776 c.1628G>T c.(1627-1629)cGa>cTa p.R543L ZNF521_ENST00000538137.2_Missense_Mutation_p.R543L|ZNF521_ENST00000584787.1_Missense_Mutation_p.R323L NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 543 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding p.R543L(1) NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AGACCCAAATCGGGAGCCACT 0.433000 T PAX5 ALL 14 87 2.31682e-05 2.93135e-05 0.003163 1 0 PLSCR4 57088 broad.mit.edu 37 3 145912942 145912942 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:145912942T>A ENST00000354952.2 - 8 1154 c.914A>T c.(913-915)aAa>aTa p.K305I PLSCR4_ENST00000446574.2_Missense_Mutation_p.K305I|PLSCR4_ENST00000493382.1_Missense_Mutation_p.K305I|PLSCR4_ENST00000383083.2_Missense_Mutation_p.K215I|PLSCR4_ENST00000433593.2_Missense_Mutation_p.K200I NM_020353.2 NP_065086.2 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 305 blood coagulation|phospholipid scrambling integral to membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding p.K305I(1) kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1) 17 AATCATGGCTTTCATCTTCAC 0.413000 14 43 0 0 0.001855 0 0 KDM4E 390245 broad.mit.edu 37 11 94759373 94759373 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:94759373C>G ENST00000450979.2 + 1 952 c.652C>G c.(652-654)Cag>Gag p.Q218E NM_001161630.1 NP_001155102.1 B2RXH2 KD4DL_HUMAN lysine (K)-specific demethylase 4E 218 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.Q218E(2) breast(1)|endometrium(7)|kidney(1)|lung(3) 12 AGAACATGGTCAGCACCTGGA 0.577000 19 63 0 0 0.007413 0 0 LPHN3 23284 broad.mit.edu 37 4 62679563 62679563 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:62679563C>T ENST00000512091.1 + 8 1979 c.1232C>T c.(1231-1233)cCg>cTg p.P411L LPHN3_ENST00000545650.1_Missense_Mutation_p.P411L|LPHN3_ENST00000508693.1_Missense_Mutation_p.P479L|LPHN3_ENST00000509896.1_Missense_Mutation_p.P479L|LPHN3_ENST00000514996.1_Missense_Mutation_p.P411L|LPHN3_ENST00000506746.1_Missense_Mutation_p.P479L|LPHN3_ENST00000508946.1_Missense_Mutation_p.P411L|LPHN3_ENST00000506720.1_Missense_Mutation_p.P479L|LPHN3_ENST00000514591.1_Missense_Mutation_p.P411L|LPHN3_ENST00000514157.1_Missense_Mutation_p.P411L|LPHN3_ENST00000504896.1_Missense_Mutation_p.P411L|LPHN3_ENST00000507164.1_Missense_Mutation_p.P479L|LPHN3_ENST00000506700.1_Missense_Mutation_p.P411L|LPHN3_ENST00000507625.1_Missense_Mutation_p.P479L|LPHN3_ENST00000511324.1_Missense_Mutation_p.P479L Q9HAR2 LPHN3_HUMAN latrophilin 3 411 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding p.P411L(3) breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 tacatttctccgccaattcac 0.373000 5 42 0 0 0.001168 0 0 SEMA5A 9037 broad.mit.edu 37 5 9066613 9066613 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:9066613G>T ENST00000382496.5 - 17 2884 c.2219C>A c.(2218-2220)cCg>cAg p.P740Q NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 740 TSP type-1 4. cell adhesion|cell-cell signaling integral to membrane|plasma membrane p.P740Q(1) biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 CAGCAAATTCGGATCAGCCAG 0.557000 52 165 1.4374e-25 2.74578e-25 0.003610 1 0 ADCY1 107 broad.mit.edu 37 7 45753510 45753510 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:45753510G>T ENST00000297323.7 + 20 3298 c.3276G>T c.(3274-3276)atG>atT p.M1092I NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 1092 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding p.M1092I(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) TGTGCCCCATGCCTGGCGTCT 0.637000 27 63 1.13719e-10 1.77753e-10 0.008361 1 0 GPR139 124274 broad.mit.edu 37 16 20043588 20043588 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:20043588G>T ENST00000570682.1 - 2 831 c.531C>A c.(529-531)acC>acA p.T177T NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 177 integral to membrane|plasma membrane p.T177T(1) autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 GATGCACAGAGGTGCTGATGT 0.498000 19 61 1.45105e-14 2.48069e-14 0.006122 1 0 MYO3A 53904 broad.mit.edu 37 10 26457663 26457663 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:26457663T>A ENST00000265944.5 + 28 3300 c.3134T>A c.(3133-3135)gTg>gAg p.V1045E MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1045 V -> M (in dbSNP:rs35447806). protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity p.V1045E(1) NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TATTATCACGTGGAGCAGTTA 0.348000 6 76 0 0 0.001984 0 0 FAM107B 83641 broad.mit.edu 37 10 14816390 14816390 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:14816390C>A ENST00000181796.2 - 1 506 c.273G>T c.(271-273)cgG>cgT p.R91R NM_031453.2 NP_113641.2 Q9H098 F107B_HUMAN family with sequence similarity 107, member B 0 p.R91R(1) breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GACTTGAATTCCGATTCGCAC 0.592000 34 197 2.40579e-17 4.29883e-17 0.006230 1 0 CABYR 26256 broad.mit.edu 37 18 21735704 21735704 + Nonsense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr18:21735704T>A ENST00000399496.3 + 4 404 c.239T>A c.(238-240)tTa>tAa p.L80* CABYR_ENST00000399481.2_5'UTR|CABYR_ENST00000581397.1_Nonsense_Mutation_p.L80*|CABYR_ENST00000415309.2_Nonsense_Mutation_p.L80*|CABYR_ENST00000399499.1_Nonsense_Mutation_p.L80*|CABYR_ENST00000327201.6_5'UTR NM_012189.2|NM_153769.1 NP_036321.2|NP_722453.1 O75952 CABYR_HUMAN calcium binding tyrosine-(Y)-phosphorylation regulated 80 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding p.L80*(2) breast(1)|endometrium(2)|large_intestine(4)|lung(4) 11 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) CAGAAGAAATTAGAATGTTTA 0.348000 21 69 0 0 0.001882 0 0 TCEANC2 127428 broad.mit.edu 37 1 54520165 54520165 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:54520165G>T ENST00000234827.1 + 2 270 c.70G>T c.(70-72)Gtt>Ttt p.V24F TCEANC2_ENST00000498272.1_3'UTR|TCEANC2_ENST00000371331.1_Missense_Mutation_p.V54F NM_153035.1 NP_694580.1 Q96MN5 TEAN2_HUMAN transcription elongation factor A (SII) N-terminal and central domain containing 2 24 transcription, DNA-dependent nucleus DNA binding p.K23_V24>NF(1) kidney(1)|lung(3)|pancreas(1) 5 TGGAGGAAAGGTTTACAAGCA 0.483000 8 43 1.76689e-08 2.56385e-08 0.006214 1 0 SNHG14 104472715 broad.mit.edu 37 15 25429526 25429526 + RNA SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr15:25429526C>A ENST00000424208.1 + 0 450 SNORD115-8_ENST00000363856.1_RNA NR_003305.1 TAGGATTACGCTGAGGCCCAG 0.502000 93 242 5.29478e-28 1.02559e-27 0.003610 1 0 HMOX1 3162 broad.mit.edu 37 22 35789515 35789515 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:35789515A>T ENST00000216117.8 + 5 1130 c.791A>T c.(790-792)cAg>cTg p.Q264L NM_002133.2 NP_002124.1 P09601 HMOX1_HUMAN heme oxygenase (decycling) 1 264 angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response endoplasmic reticulum membrane|extracellular space|microsome enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity p.Q264L(1) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 16 NADH(DB00157) ACCCGCTCCCAGGCTCCGCTT 0.582000 45 171 0 0 0.002222 0 0 CD300LG 146894 broad.mit.edu 37 17 41934478 41934478 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:41934478A>T ENST00000317310.4 + 6 880 c.839A>T c.(838-840)cAg>cTg p.Q280L CD300LG_ENST00000539718.1_Missense_Mutation_p.Q280L|CD300LG_ENST00000377203.4_Missense_Mutation_p.Q246L|CD300LG_ENST00000586233.1_Missense_Mutation_p.Q195L|CD300LG_ENST00000293396.8_Missense_Mutation_p.Q195L NM_145273.3 NP_660316.2 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g 280 apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity p.Q280L(1) central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4) 19 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) TCAGCTCAACAGGCCACGGAG 0.577000 4 42 0 0 0.000248 0 0 MIR3654 100500804 broad.mit.edu 37 11 62356562 62356562 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:62356562G>C ENST00000496634.2 - 2 259 c.214C>G c.(214-216)Ctc>Gtc p.L72V TUT1_ENST00000476907.1_Missense_Mutation_p.L72V|TUT1_ENST00000308436.7_Missense_Mutation_p.L110V p.L110V(1)|p.L72V(1) NS(1) 1 TACTCAGAGAGCTGAGCAGAA 0.507000 4 64 0 0 0.000248 0 0 SI 6476 broad.mit.edu 37 3 164710132 164710132 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:164710132G>T ENST00000264382.3 - 42 4957 c.4895C>A c.(4894-4896)cCa>cAa p.P1632Q NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1632 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.P1632Q(1) NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CATAAATGCTGGACCCCATAA 0.313000 HNSCC(35;0.089) 5 62 3.59834e-05 4.50131e-05 0.001168 1 0 ZAP70 7535 broad.mit.edu 37 2 98349797 98349797 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:98349797G>T ENST00000264972.5 + 7 1043 c.828G>T c.(826-828)acG>acT p.T276T ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Silent_p.T150T NM_001079.3 NP_001070.2 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa 276 Interdomain B. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity p.T276T(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 ACCCATCCACGTTGACTCATG 0.697000 3 11 0.004672 0.00538578 0.004672 1 0 CX3CR1 1524 broad.mit.edu 37 3 39308000 39308000 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:39308000T>C ENST00000358309.3 - 2 136 c.97A>G c.(97-99)Atg>Gtg p.M33V CX3CR1_ENST00000399220.2_Start_Codon_SNP_p.M1V|CX3CR1_ENST00000542107.1_Start_Codon_SNP_p.M1V|CX3CR1_ENST00000541347.1_Start_Codon_SNP_p.M1V NM_001171174.1 NP_001164645.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 1 cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity p.M33V(1)|p.M1V(1) endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) AACTGATCCATGGTGAAGGCC 0.443000 14 35 0 0 0.002450 0 0 SSPO 23145 broad.mit.edu 37 7 149483249 149483249 + RNA SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:149483249G>T ENST00000378016.2 + 0 3317 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity p.R356L(1) Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGAGCCTGCGTCGTGCTGGC 0.652000 4 14 0.000602214 0.0007161 0.000602 1 0 SAMD9 54809 broad.mit.edu 37 7 92733814 92733814 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:92733814T>A ENST00000379958.2 - 3 1866 c.1597A>T c.(1597-1599)Ata>Tta p.I533L NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 533 cytoplasm p.I533L(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CTTGGCATTATGTCTTCATGT 0.408000 8 136 0 0 0.003080 0 0 SSMEM1 136263 broad.mit.edu 37 7 129847928 129847928 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:129847928G>T ENST00000297819.3 + 1 229 c.178G>T c.(178-180)Gtc>Ttc p.V60F NM_145268.3 NP_660311.1 serine-rich single-pass membrane protein 1 p.V60F(1)|p.V60I(1) TAGGGCTTCTGTCTGGGTAGG 0.333000 30 90 5.60225e-13 9.21678e-13 0.001786 1 0 HSPG2 3339 broad.mit.edu 37 1 22176624 22176624 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:22176624C>G ENST00000374695.3 - 57 7435 c.7356G>C c.(7354-7356)caG>caC p.Q2452H HSPG2_ENST00000430507.1_3'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2452 Ig-like C2-type 10. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding p.Q2452H(1) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GGTCCAGGGTCTGCCCCTCGG 0.672000 12 117 0 0 0.000978 0 0 DDX53 168400 broad.mit.edu 37 X 23020012 23020012 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:23020012G>T ENST00000327968.5 + 1 1926 c.1838G>T c.(1837-1839)aGa>aTa p.R613I RP11-40F8.2_ENST00000455399.1_RNA NM_182699.3 NP_874358.2 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 613 nucleus ATP binding|ATP-dependent helicase activity|RNA binding p.R613I(1) breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 35 AAGAGGCACAGAGAAACACGA 0.383000 11 20 6.40141e-05 7.95385e-05 0.000978 1 0 PTPRG 5793 broad.mit.edu 37 3 61975455 61975455 + Nonsense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:61975455G>A ENST00000474889.1 + 3 724 c.347G>A c.(346-348)tGg>tAg p.W116* PTPRG_ENST00000295874.10_Nonsense_Mutation_p.W116* NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 116 Alpha-carbonic anhydrase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity p.W116Y(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) AACAAAACCTGGATGAAAAAC 0.423000 6 48 0 0 0.001984 0 0 IMPG1 3617 broad.mit.edu 37 6 76715026 76715026 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:76715026C>A ENST00000369950.3 - 10 1302 c.1113G>T c.(1111-1113)gtG>gtT p.V371V IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 371 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity p.V371V(1) breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) GAATTGTCCCCACATCCAAAG 0.418000 5 95 0.000602214 0.0007161 0.000602 1 0 TUBB8P7 197331 broad.mit.edu 37 16 90160912 90160912 + RNA SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:90160912G>T ENST00000564451.1 + 0 863 TUBB8P7_ENST00000567960.1_RNA CCCTCCCCTCGCTCATGCCCT 0.736000 8 24 5.4927e-09 8.16284e-09 0.004482 1 0 SEZ6 124925 broad.mit.edu 37 17 27306826 27306826 + Missense_Mutation SNP A A C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:27306826A>C ENST00000317338.12 - 3 1158 c.730T>G c.(730-732)Tgt>Ggt p.C244G SEZ6_ENST00000442608.3_Missense_Mutation_p.C244G|SEZ6_ENST00000360295.9_Missense_Mutation_p.C244G|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Missense_Mutation_p.C244G Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 244 integral to membrane|plasma membrane p.C244G(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) TTCCAGCTACAAGGGCCTGGG 0.557000 2 8 0 0 0.004672 0 0 KCNT2 343450 broad.mit.edu 37 1 196448362 196448362 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:196448362C>G ENST00000367433.5 - 5 432 c.331G>C c.(331-333)Gtg>Ctg p.V111L KCNT2_ENST00000294725.8_Missense_Mutation_p.V111L|KCNT2_ENST00000367431.4_Missense_Mutation_p.V111L|KCNT2_ENST00000451324.2_5'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 111 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity p.V111L(1) NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 ATCAATGCCACTGAAACCTGA 0.274000 10 27 0 0 0.008291 0 0 RIMS4 140730 broad.mit.edu 37 20 43385559 43385559 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:43385559G>T ENST00000372851.3 - 5 637 c.571C>A c.(571-573)Ccc>Acc p.P191T RIMS4_ENST00000541604.2_Missense_Mutation_p.P192T NM_001205317.1|NM_182970.3 NP_001192246.1|NP_892015.1 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 191 C2. exocytosis|neurotransmitter transport cell junction|synapse p.P191T(1) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1) 29 Myeloproliferative disorder(115;0.0122) TTGCCCTGGGGACTCTCAGGA 0.567000 75 177 5.44642e-36 1.08406e-35 0.003610 1 0 PRSS1 5644 broad.mit.edu 37 7 142460405 142460405 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:142460405A>T ENST00000486171.1 + 5 637 c.620A>T c.(619-621)aAg>aTg p.K207M PRSS1_ENST00000311737.7_Missense_Mutation_p.K193M P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 193 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity p.K193M(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) GAGGGAGGCAAGGATTCATGT 0.532000 14 198 0 0 0.003163 0 0 TRPM8 79054 broad.mit.edu 37 2 234878910 234878910 + Missense_Mutation SNP C C A rs17862932 byFrequency TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:234878910C>A ENST00000324695.4 + 17 2235 c.2195C>A c.(2194-2196)aCc>aAc p.T732N TRPM8_ENST00000433712.2_Intron NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 732 T -> I (in dbSNP:rs17862932). integral to membrane p.T732N(1) breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) GCGTTCTTCACCTCCCCCTTC 0.527000 39 266 2.87052e-16 5.04239e-16 0.005524 1 0 SLC7A14 57709 broad.mit.edu 37 3 170244607 170244607 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:170244607C>G ENST00000231706.4 - 2 434 c.119G>C c.(118-120)gGg>gCg p.G40A CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 40 integral to membrane amino acid transmembrane transporter activity p.G40A(1) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) CGTGGTGGTCCCAGTTCCCTC 0.597000 17 36 0 0 0.004990 0 0 DZIP1 22873 broad.mit.edu 37 13 96272140 96272140 + Splice_Site SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:96272140C>G ENST00000347108.3 - 8 1604 c.1173_splice c.e8+1 p.R391_splice DZIP1_ENST00000376829.2_Splice_Site_p.R391_splice|DZIP1_ENST00000361156.3_Splice_Site_p.R391_splice|DZIP1_ENST00000361396.2_Splice_Site_p.R391_splice Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 391 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding p.R391P(2) endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) TAACCTTACCCGACCCTTCTC 0.318000 16 120 0 0 0.004007 0 0 RD3 343035 broad.mit.edu 37 1 211654573 211654573 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:211654573C>A ENST00000367002.4 - 2 1348 c.185G>T c.(184-186)tGg>tTg p.W62L RD3_ENST00000484910.1_Intron NM_001164688.1|NM_183059.2 NP_001158160.1|NP_898882.1 Q7Z3Z2 RD3_HUMAN retinal degeneration 3 62 response to stimulus|visual perception p.W62L(1) central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 10 OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689) GCTGGCCAGCCAGCTGTAGTC 0.602000 5 99 8.12818e-05 0.000100244 0.001984 1 0 KIF1B 23095 broad.mit.edu 37 1 10394657 10394657 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:10394657G>A ENST00000377086.1 + 28 3206 c.3004G>A c.(3004-3006)Gtg>Atg p.V1002M KIF1B_ENST00000263934.6_Missense_Mutation_p.V956M|KIF1B_ENST00000377081.1_Missense_Mutation_p.V1002M O60333 KIF1B_HUMAN kinesin family member 1B 1002 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding p.V956M(1) breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GAAAGGTGAAGTGCGGGGATT 0.522000 34 92 0 0 0.002445 0 0 OR5B17 219965 broad.mit.edu 37 11 58126446 58126446 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:58126446A>T ENST00000357377.3 - 1 96 c.97T>A c.(97-99)Tac>Aac p.Y33N NM_001005489.1 NP_001005489.1 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, member 17 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y33N(1) NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) GTGATGAGGTAGATGAGGGTA 0.448000 43 146 0 0 0.008740 0 0 HTR2A 3356 broad.mit.edu 37 13 47409239 47409239 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:47409239G>A ENST00000378688.4 - 3 1280 c.1149C>T c.(1147-1149)ttC>ttT p.F383F HTR2A_ENST00000543956.1_Silent_p.F299F|HTR2A_ENST00000542664.1_Silent_p.F383F P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 383 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity p.F383F(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) AGGTCTTGTTGAACAGTGTGT 0.423000 5 76 0 0 0.000602 0 0 APLNR 187 broad.mit.edu 37 11 57004333 57004333 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:57004333A>T ENST00000606794.1 - 1 342 c.146T>A c.(145-147)gTg>gAg p.V49E NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 49 integral to plasma membrane G-protein coupled receptor activity p.V49E(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 GGTCCAGAGCACCAGACCGTT 0.597000 17 56 0 0 0.008871 0 0 NOS1 4842 broad.mit.edu 37 12 117681140 117681140 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:117681140C>T ENST00000317775.6 - 19 3609 c.2924G>A c.(2923-2925)cGc>cAc p.R975H NOS1_ENST00000338101.4_Missense_Mutation_p.R1009H|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 975 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.R975H(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) AAAGGTGAGGCGGAACTTGTT 0.517000 11 80 0 0 0.008291 0 0 CDCA4 55038 broad.mit.edu 37 14 105477708 105477708 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:105477708G>C ENST00000336219.3 - 2 714 c.559C>G c.(559-561)Ccc>Gcc p.P187A CDCA4_ENST00000392590.3_Missense_Mutation_p.P187A NM_017955.3 NP_060425.2 Q9BXL8 CDCA4_HUMAN cell division cycle associated 4 187 nucleus p.P187A(1) endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.142) TCGTAGTAGGGGCTGTCCACG 0.582000 6 63 0 0 0.001168 0 0 CHML 1122 broad.mit.edu 37 1 241798993 241798993 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:241798993C>A ENST00000366553.1 - 1 239 c.76G>T c.(76-78)Gca>Tca p.A26S OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron NM_001821.3 NP_001812.2 P26374 RAE2_HUMAN choroideremia-like (Rab escort protein 2) 26 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity p.A26S(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) CTTGAACATGCAGCTGCAAGG 0.453000 27 142 2.44723e-14 4.15379e-14 0.004656 1 0 KIAA1328 57536 broad.mit.edu 37 18 34539372 34539372 + Translation_Start_Site SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr18:34539372G>A ENST00000435985.2 + 0 572 KIAA1328_ENST00000280020.5_Missense_Mutation_p.G184S|KIAA1328_ENST00000591619.1_Missense_Mutation_p.G180S|KIAA1328_ENST00000586135.1_Intron|KIAA1328_ENST00000543923.1_Missense_Mutation_p.G76S Q86T90 K1328_HUMAN KIAA1328 p.G184S(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 14 COAD - Colon adenocarcinoma(74;0.195) CTCAGAACTTGGTGCTGCTAG 0.388000 8 16 0 0 0.004482 0 0 FAM83F 113828 broad.mit.edu 37 22 40417379 40417379 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:40417379C>T ENST00000333407.5 + 4 959 c.865C>T c.(865-867)Cgg>Tgg p.R289W FAM83F_ENST00000473717.1_3'UTR NM_138435.2 NP_612444.2 Q8NEG4 FA83F_HUMAN family with sequence similarity 83, member F 289 p.R289W(1) breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 CACGGAGTTCCGGGAGCTGTA 0.602000 16 216 0 0 0.006122 0 0 SCN2A 6326 broad.mit.edu 37 2 166172032 166172032 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:166172032G>T ENST00000357398.3 + 11 1725 c.1435G>T c.(1435-1437)Ggg>Tgg p.G479W SCN2A_ENST00000283256.6_Missense_Mutation_p.G479W|SCN2A_ENST00000375427.2_Missense_Mutation_p.G479W|SCN2A_ENST00000375437.2_Missense_Mutation_p.G479W Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 479 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity p.G479W(2) NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TGGTGCTGGTGGGATAGGAGT 0.413000 9 110 1.76689e-08 2.56385e-08 0.006214 1 0 CRISPLD1 83690 broad.mit.edu 37 8 75932315 75932315 + Splice_Site SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:75932315G>T ENST00000262207.4 + 12 1712 c.e12+1 CRISPLD1_ENST00000523524.1_Splice_Site|CRISPLD1_ENST00000517786.1_Splice_Site NM_031461.5 NP_113649.1 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain containing 1 extracellular region p.?(1) biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) ATTGCCCAAGGTAAACCAGTG 0.408000 20 31 1.50039e-11 2.39255e-11 0.001882 1 0 KLHL3 26249 broad.mit.edu 37 5 136964068 136964068 + Nonstop_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:136964068C>A ENST00000541417.1 - 7 1144 c.602G>T c.(601-603)tGa>tTa p.*201L KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000506491.1_Silent_p.V421V|KLHL3_ENST00000309755.4_Silent_p.V503V|KLHL3_ENST00000508657.1_Silent_p.V471V Q9UH77 KLHL3_HUMAN kelch-like family member 3 0 cytoplasm|cytoskeleton actin binding|structural molecule activity p.V503V(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1) 21 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) CGCTCTTCCTCACCAAAGGCC 0.552000 14 157 1.3612e-06 1.83409e-06 0.003163 1 0 MMRN1 22915 broad.mit.edu 37 4 90856532 90856532 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:90856532G>A ENST00000394980.1 + 7 2020 c.1701G>A c.(1699-1701)ttG>ttA p.L567L MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Silent_p.L309L|MMRN1_ENST00000264790.2_Silent_p.L567L Q13201 MMRN1_HUMAN multimerin 1 567 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen p.L567L(1) breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) TTGAAGATTTGCACATTCAAG 0.373000 11 64 0 0 0.008291 0 0 MROH7 374977 broad.mit.edu 37 1 55145645 55145645 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:55145645G>T ENST00000414150.2 + 13 2586 c.2308G>T c.(2308-2310)Gtc>Ttc p.V770F MROH7_ENST00000409996.1_Missense_Mutation_p.V338F|MROH7_ENST00000395690.2_Missense_Mutation_p.V770F|MROH7_ENST00000339553.5_Missense_Mutation_p.V770F|MROH7_ENST00000545244.1_Missense_Mutation_p.V338F|MROH7_ENST00000454855.2_Missense_Mutation_p.V288F|MROH7_ENST00000421030.2_Missense_Mutation_p.V770F maestro heat-like repeat family member 7 p.V770F(2) CCTGCTGCCCGTCTCCCTCCT 0.637000 38 168 3.38236e-24 6.39489e-24 0.006999 1 0 PURB 5814 broad.mit.edu 37 7 44924058 44924058 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:44924058C>A ENST00000395699.2 - 1 902 c.890G>T c.(889-891)gGc>gTc p.G297V NM_033224.3 NP_150093.1 Q96QR8 PURB_HUMAN purine-rich element binding protein B 297 regulation of myeloid cell differentiation DNA replication factor A complex mRNA binding|single-stranded DNA binding|transcription factor binding p.G297V(1) large_intestine(2)|lung(3)|prostate(1)|skin(1) 7 GCCGCCGCTGCCCCCACCACG 0.597000 8 127 5.4927e-09 8.16284e-09 0.004482 1 0 NOP2 4839 broad.mit.edu 37 12 6669388 6669388 + Silent SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:6669388T>A ENST00000541778.1 - 15 2141 c.1653A>T c.(1651-1653)cgA>cgT p.R551R NOP2_ENST00000537442.1_Silent_p.R555R|NOP2_ENST00000382421.3_Silent_p.R588R|NOP2_ENST00000545200.1_Silent_p.R551R|NOP2_ENST00000322166.5_Silent_p.R555R|NOP2_ENST00000399466.2_Silent_p.R551R|NOP2_ENST00000542015.1_5'UTR P46087 NOP2_HUMAN NOP2 nucleolar protein 555 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity p.R551R(1) breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 19 AGCGCCTTTCTCGAAAGCGGG 0.502000 11 61 0 0 0.000978 0 0 CALHM2 51063 broad.mit.edu 37 10 105209507 105209507 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:105209507G>A ENST00000393235.1 - 3 1389 c.192C>T c.(190-192)ccC>ccT p.P64P CALHM2_ENST00000369788.3_Silent_p.P64P|CALHM2_ENST00000494180.1_5'UTR|CALHM2_ENST00000260743.5_Silent_p.P64P Q9HA72 CAHM2_HUMAN calcium homeostasis modulator 2 64 integral to membrane p.P64P(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1) 11 GCACCAGGGCGGGCACGCCGA 0.667000 14 50 0 0 0.004007 0 0 AJAP1 55966 broad.mit.edu 37 1 4772109 4772109 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:4772109C>T ENST00000378191.4 + 2 560 c.179C>T c.(178-180)cCg>cTg p.P60L AJAP1_ENST00000378190.3_Missense_Mutation_p.P60L|AJAP1_ENST00000466761.1_3'UTR NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 60 cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane p.P60L(1) endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) ccgccccggccgccccggcTG 0.731000 5 88 0 0 0.001168 0 0 OR4K14 122740 broad.mit.edu 37 14 20482658 20482658 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:20482658C>A ENST00000305045.2 - 1 694 c.695G>T c.(694-696)gGt>gTt p.G232V NM_001004712.1 NP_001004712.1 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, member 14 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G232V(1) breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) GGATGTGCTACCGGCAGCACG 0.498000 19 22 2.4624e-09 3.69917e-09 0.008871 1 0 ADAMTS1 9510 broad.mit.edu 37 21 28210911 28210911 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr21:28210911C>A ENST00000284984.2 - 8 2505 c.2051G>T c.(2050-2052)aGc>aTc p.S684I NM_006988.3 NP_008919.3 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 1 684 Cys-rich. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding p.S684I(1) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 42 Breast(209;0.000962) Lung(58;0.215) GGAATCTGGGCTACATGGAGT 0.408000 11 44 3.07112e-06 4.04287e-06 0.000978 1 0 MROH2B 133558 broad.mit.edu 37 5 41045869 41045869 + Nonsense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:41045869G>C ENST00000399564.4 - 18 2265 c.1815C>G c.(1813-1815)taC>taG p.Y605* MROH2B_ENST00000506092.2_Nonsense_Mutation_p.Y160* NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B p.Y605*(1) AGTTATTGCTGTAACTGCCCA 0.438000 57 210 0 0 0.003610 0 0 L1TD1 54596 broad.mit.edu 37 1 62675725 62675725 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:62675725G>T ENST00000498273.1 + 4 1574 c.1279G>T c.(1279-1281)Gat>Tat p.D427Y NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 427 Glu-rich. p.D427Y(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 gttggaggaggatgaggcctc 0.522000 11 34 3.86212e-05 4.81677e-05 0.008291 1 0 PEAK1 79834 broad.mit.edu 37 15 77471194 77471194 + Silent SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr15:77471194T>C ENST00000560626.2 - 4 3550 c.3075A>G c.(3073-3075)ctA>ctG p.L1025L PEAK1_ENST00000558305.1_Silent_p.L1025L|PEAK1_ENST00000312493.4_Silent_p.L1025L Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 1025 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.L1025L(2) CTGAGTCCTGTAGTAATGCAT 0.458000 10 54 0 0 0.006214 0 0 SLITRK6 84189 broad.mit.edu 37 13 86368425 86368425 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:86368425G>T ENST00000400286.2 - 2 2817 c.2219C>A c.(2218-2220)aCg>aAg p.T740K NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 740 integral to membrane p.T740K(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TGATTGGTTCGTGGTTTTGTA 0.368000 52 269 2.74695e-27 5.28383e-27 0.003610 1 0 TATDN2 9797 broad.mit.edu 37 3 10291003 10291003 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:10291003A>T ENST00000287652.4 + 2 1170 c.119A>T c.(118-120)cAg>cTg p.Q40L TATDN2_ENST00000448281.2_Missense_Mutation_p.Q40L NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 40 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding p.Q40L(1) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 CGGCCAGCTCAGAGGTCTGCG 0.662000 19 80 0 0 0.001523 0 0 KCNH7 90134 broad.mit.edu 37 2 163228428 163228428 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:163228428G>A ENST00000332142.5 - 16 3601 c.3502C>T c.(3502-3504)Cat>Tat p.H1168Y NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 1168 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.H1168Y(1) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) AAAGAAGGATGCCTAATTGGA 0.413000 5 58 0 0 0.000602 0 0 SAP130 79595 broad.mit.edu 37 2 128775444 128775444 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:128775444T>A ENST00000357702.5 - 3 367 c.236A>T c.(235-237)cAc>cTc p.H79L SAP130_ENST00000259234.6_Missense_Mutation_p.H53L|SAP130_ENST00000259235.3_Missense_Mutation_p.H79L NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 79 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity p.H79L(2) NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) GGAACTCATGTGCTCCCTGGC 0.502000 10 54 0 0 0.000978 0 0 GPR115 221393 broad.mit.edu 37 6 47682493 47682493 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:47682493C>T ENST00000283303.2 + 6 1770 c.1512C>T c.(1510-1512)gtC>gtT p.V504V GPR115_ENST00000371220.1_Silent_p.V561V|GPR115_ENST00000327753.3_Silent_p.V504V NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 504 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.V504V(2) NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 GAATATTGGTCATTTTCCGTA 0.423000 19 203 0 0 0.008871 0 0 PAX5 5079 broad.mit.edu 37 9 36882089 36882089 + Silent SNP C C A rs145283614 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:36882089C>A ENST00000358127.4 - 8 998 c.924G>T c.(922-924)gcG>gcT p.A308A PAX5_ENST00000377853.2_Silent_p.A308A|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000520281.1_Silent_p.A265A|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000522003.1_Silent_p.A200A|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000414447.1_Silent_p.A265A NM_016734.1 NP_057953.1 Q02548 PAX5_HUMAN paired box 5 308 cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(22)|p.A308A(1) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) GGGTCGTGCTCGCCAAGTCAC 0.622000 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 7 26 0.000157383 0.000191818 0.003080 1 0 IGHV3-20 28445 broad.mit.edu 37 14 106667683 106667683 + RNA SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:106667683C>T ENST00000390606.2 - 0 310 ATCGGCCCTTCACAGAGTCTG 0.532000 19 244 0 0 0.001523 0 0 ANKRD45 339416 broad.mit.edu 37 1 173594012 173594012 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:173594012G>C ENST00000333279.2 - 5 704 c.644C>G c.(643-645)aCa>aGa p.T215R NM_198493.2 NP_940895.1 Q5TZF3 ANR45_HUMAN ankyrin repeat domain 45 231 p.T215R(1) NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1) 12 GGAAGCTTCTGTATGGGTTTC 0.378000 6 72 0 0 0.001168 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125204404 125204404 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:125204404C>A ENST00000431078.1 + 6 1172 c.808C>A c.(808-810)Cac>Aac p.H270N NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 270 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding p.H270N(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CCAGCACTGGCACTCGGTCCT 0.607000 27 47 7.92952e-12 1.27302e-11 0.003954 1 0 CDC14A 8556 broad.mit.edu 37 1 100960422 100960422 + Nonsense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:100960422G>T ENST00000336454.3 + 12 1541 c.1186G>T c.(1186-1188)Gga>Tga p.G396* CDC14A_ENST00000542213.1_Nonsense_Mutation_p.G338*|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Nonsense_Mutation_p.G396*|CDC14A_ENST00000544534.1_Nonsense_Mutation_p.G396* NM_003672.3 NP_003663.2 Q9UNH5 CC14A_HUMAN cell division cycle 14A 396 cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.Q395_G396>H*(1) breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1) 31 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) TATAACCCAGGGAGACAAACT 0.373000 4 46 2.56e-06 3.39425e-06 0.000248 1 0 OR7G1 125962 broad.mit.edu 37 19 9226195 9226195 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:9226195A>G ENST00000293614.1 - 1 244 c.245T>C c.(244-246)cTa>cCa p.L82P OR7G1_ENST00000541538.1_Missense_Mutation_p.L82P Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L82P(1) breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 GATGTTCACTAGGATCTTTGG 0.458000 48 120 0 0 0.003610 0 0 HPS3 84343 broad.mit.edu 37 3 148847543 148847543 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:148847543G>T ENST00000296051.2 + 1 173 c.33G>T c.(31-33)ggG>ggT p.G11G HPS3_ENST00000494327.1_3'UTR|HPS3_ENST00000460120.1_Silent_p.G11G NM_032383.3 NP_115759.2 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 11 cytoplasm p.G11G(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) ACCCGTTCGGGTCGCAGCAGG 0.726000 Hermansky-Pudlak syndrome 6 14 8.12818e-05 0.000100244 0.001984 1 0 IGLV1-40 28825 broad.mit.edu 37 22 22764469 22764469 + RNA SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:22764469G>T ENST00000390299.2 + 0 262 CCTCATCTATGGTAACAGCAA 0.587000 59 221 1.07751e-37 2.14984e-37 0.003610 1 0 TRPC5 7224 broad.mit.edu 37 X 111155894 111155894 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:111155894G>T ENST00000262839.2 - 3 1443 c.525C>A c.(523-525)cgC>cgA p.R175R NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 175 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity p.R175R(1) biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CACAGTTGCAGCGGATCTGGT 0.537000 26 35 4.72057e-08 6.73788e-08 0.003954 1 0 TFAP2B 7021 broad.mit.edu 37 6 50803856 50803856 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:50803856G>C ENST00000263046.4 + 5 877 c.711G>C c.(709-711)gaG>gaC p.E237D TFAP2B_ENST00000393655.3_Missense_Mutation_p.E228D Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 228 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.E228D(1) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) ACACCGGCGAGGTGTTTTGCT 0.493000 9 131 0 0 0.006214 0 0 ZNF511 118472 broad.mit.edu 37 10 135165850 135165850 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:135165850A>G ENST00000368554.4 + 8 861 c.839A>G c.(838-840)cAg>cGg p.Q280R PRAP1_ENST00000433452.2_Missense_Mutation_p.Q121R|PRAP1_ENST00000463201.1_3'UTR|PRAP1_ENST00000458230.1_Missense_Mutation_p.Q112R|PRAP1_ENST00000423766.1_Missense_Mutation_p.Q122R Q8NB15 ZN511_HUMAN zinc finger protein 511 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06) GAGGAGGACCAGGGCGAGGAG 0.652000 3 77 0 0 0.004672 0 0 SVIL 6840 broad.mit.edu 37 10 29812503 29812503 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:29812503C>T ENST00000375398.2 - 17 3489 c.3040G>A c.(3040-3042)Gaa>Aaa p.E1014K SVIL_ENST00000355867.4_Missense_Mutation_p.E1014K|SVIL_ENST00000375400.3_Missense_Mutation_p.E588K O95425 SVIL_HUMAN supervillin 1014 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding p.E1014K(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) TCCTTCGGTTCATCCCCGAGG 0.512000 7 64 0 0 0.001984 0 0 ADNP2 22850 broad.mit.edu 37 18 77893726 77893726 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr18:77893726G>A ENST00000262198.4 + 4 885 c.430G>A c.(430-432)Gaa>Aaa p.E144K NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 144 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E144K(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) TATTTTAGGTGAAACTAAATC 0.408000 8 69 0 0 0.003080 0 0 IGKV5-2 28907 broad.mit.edu 37 2 89197011 89197011 + RNA SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:89197011G>T ENST00000390244.2 + 0 119 TCAGATACCAGGGCAGAAACG 0.383000 13 35 9.31168e-06 1.20667e-05 0.001855 1 0 COL12A1 1303 broad.mit.edu 37 6 75875431 75875431 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:75875431C>A ENST00000322507.8 - 14 3084 c.2775G>T c.(2773-2775)tgG>tgT p.W925C COL12A1_ENST00000483888.2_Missense_Mutation_p.W925C|COL12A1_ENST00000416123.2_Missense_Mutation_p.W925C|COL12A1_ENST00000345356.6_Intron NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 925 Fibronectin type-III 6. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength p.W925C(1) breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GAGCAGATGTCCAATAAGCCC 0.388000 12 93 7.03913e-09 1.0433e-08 0.001368 1 0 INTS1 26173 broad.mit.edu 37 7 1538688 1538688 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:1538688G>A ENST00000389470.4 - 9 1443 c.1444C>T c.(1444-1446)Ctc>Ttc p.L482F INTS1_ENST00000404767.3_Missense_Mutation_p.L354F Q8N201 INT1_HUMAN integrator complex subunit 1 354 snRNA processing integral to membrane|integrator complex|nuclear membrane p.L482F(1) autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) GTGGAGGTGAGGAGCCGCAGG 0.677000 4 7 0 0 0.000248 0 0 PKD1 5310 broad.mit.edu 37 16 2160773 2160773 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:2160773G>A ENST00000262304.4 - 15 4603 c.4395C>T c.(4393-4395)ccC>ccT p.P1465P PKD1_ENST00000423118.1_Silent_p.P1465P NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 1465 PKD 9. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding p.P1465P(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TGACCAGCACGGGCTCCTGCA 0.622000 7 82 0 0 0.003080 0 0 PCDHB7 56129 broad.mit.edu 37 5 140552728 140552728 + Silent SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:140552728G>C ENST00000231137.3 + 1 486 c.312G>C c.(310-312)ctG>ctC p.L104L NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 104 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L104L(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGTGTGCTGCCTTTCCAGT 0.443000 30 79 0 0 0.001786 0 0 PSMC4 5704 broad.mit.edu 37 19 40480540 40480540 + Splice_Site SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:40480540G>C ENST00000157812.2 + 5 777 c.579_splice c.e5+1 p.Q193_splice PSMC4_ENST00000455878.2_Splice_Site_p.Q162_splice NM_006503.3|NM_153001.2 NP_006494.1|NP_694546.1 P43686 PRS6B_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 4 193 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding p.Q193H(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TCTACAAGCAGGTGAGGCGGT 0.612000 39 31 0 0 0.005524 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110464485 110464485 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:110464485C>A ENST00000378402.5 + 42 6587 c.6483C>A c.(6481-6483)atC>atA p.I2161I NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2161 IPT/TIG 14. immune response cytosol|extracellular space|integral to membrane receptor activity p.I2163I(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GTGTCCACATCAGAGGTGTCG 0.453000 HNSCC(38;0.096) 27 52 9.65021e-13 1.57826e-12 0.002096 1 0 COL18A1 80781 broad.mit.edu 37 21 46875463 46875463 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr21:46875463G>A ENST00000359759.4 + 1 40 c.19G>A c.(19-21)Ggc>Agc p.G7S COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Missense_Mutation_p.G7S P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 7 cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding p.G7S(1) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CTACCCCTGTGGCTGCCACAT 0.672000 7 49 0 0 0.003080 0 0 TG 7038 broad.mit.edu 37 8 133885314 133885314 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:133885314G>C ENST00000220616.4 + 5 526 c.486G>C c.(484-486)agG>agC p.R162S TG_ENST00000377869.1_Missense_Mutation_p.R162S NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 162 Thyroglobulin type-1 3. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity p.R162S(1) NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TAGGTCCAAGGAGCTGTGAAA 0.453000 16 30 0 0 0.004990 0 0 IST1 9798 broad.mit.edu 37 16 71961559 71961559 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:71961559G>T ENST00000378799.6 + 10 1300 c.944G>T c.(943-945)aGa>aTa p.R315I IST1_ENST00000378798.5_Missense_Mutation_p.R284I|IST1_ENST00000544564.1_Missense_Mutation_p.R315I|IST1_ENST00000541571.2_Missense_Mutation_p.R315I|IST1_ENST00000329908.8_Missense_Mutation_p.D314Y|IST1_ENST00000606369.1_Missense_Mutation_p.R167I|IST1_ENST00000538850.1_Missense_Mutation_p.R167I|IST1_ENST00000535424.1_Missense_Mutation_p.R328I|IST1_ENST00000538565.1_3'UTR NM_001270975.1 NP_001257904.1 P53990 IST1_HUMAN increased sodium tolerance 1 homolog (yeast) 313 Interaction with VTA1. cell cycle|cell division cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment protein binding p.D314Y(1) CTTCCTTCCAGACCTGCAGAT 0.498000 41 206 7.62715e-32 1.51087e-31 0.007835 1 0 HECW1 23072 broad.mit.edu 37 7 43581559 43581559 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:43581559G>C ENST00000395891.1 + 26 4815 c.4210G>C c.(4210-4212)Gac>Cac p.D1404H HECW1_ENST00000453890.1_Missense_Mutation_p.D1370H NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1404 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity p.D1383Y(1)|p.D1383H(1)|p.D1404H(1) NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 AGACATCTTAGACCTCACTTT 0.413000 8 114 0 0 0.008291 0 0 EYS 346007 broad.mit.edu 37 6 66063486 66063486 + Missense_Mutation SNP T T G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:66063486T>G ENST00000503581.1 - 9 1861 c.1324A>C c.(1324-1326)Aaa>Caa p.K442Q EYS_ENST00000370621.3_Missense_Mutation_p.K442Q|EYS_ENST00000370616.2_Missense_Mutation_p.K442Q|EYS_ENST00000370618.3_Missense_Mutation_p.K442Q|EYS_ENST00000342421.5_Missense_Mutation_p.K442Q|EYS_ENST00000393380.2_Missense_Mutation_p.K442Q NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 442 response to stimulus|visual perception extracellular region calcium ion binding p.K442Q(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 CATGGATTTTTTGTGCACCCT 0.338000 7 65 0 0 0.006214 0 0 CBFA2T2 9139 broad.mit.edu 37 20 32210976 32210976 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:32210976A>T ENST00000346541.3 + 6 1130 c.593A>T c.(592-594)cAg>cTg p.Q198L CBFA2T2_ENST00000397800.1_Missense_Mutation_p.Q169L|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.Q198L|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.Q189L|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.Q208L|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.Q169L|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.Q169L NM_005093.3 NP_005084.1 O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 2 198 TAFH. nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Q189L(1)|p.Q198L(1) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2) 20 GCGGCCAAGCAGACCCCATCC 0.587000 5 70 0 0 0.000602 0 0 ARPP21 10777 broad.mit.edu 37 3 35778812 35778812 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:35778812C>A ENST00000187397.4 + 16 2058 c.1602C>A c.(1600-1602)gtC>gtA p.V534V ARPP21_ENST00000337271.5_Silent_p.V480V|ARPP21_ENST00000417925.1_Silent_p.V500V|ARPP21_ENST00000444190.1_Silent_p.V480V|ARPP21_ENST00000458225.1_Silent_p.V500V NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 534 Gln-rich. cytoplasm nucleic acid binding p.V534V(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 AACAGCAGGTCCAGCCACCGC 0.647000 9 29 0.00829132 0.00952497 0.008291 1 0 UTRN 7402 broad.mit.edu 37 6 145069549 145069549 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:145069549C>T ENST00000367545.3 + 54 8107 c.8107C>T c.(8107-8109)Ctg>Ttg p.L2703L UTRN_ENST00000367526.4_Silent_p.L258L NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 2703 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding p.L2703L(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TATGGATGACCTGGACGCTGA 0.483000 4 37 0 0 0.000248 0 0 MUC17 140453 broad.mit.edu 37 7 100679089 100679089 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:100679089C>A ENST00000306151.4 + 3 4456 c.4392C>A c.(4390-4392)aaC>aaA p.N1464K NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1464 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.N1464K(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CTGTCAGCAACACGCCGGTGG 0.473000 32 473 5.8336e-16 1.02042e-15 0.003271 1 0 SPATA31A3 727830 broad.mit.edu 37 9 40704246 40704246 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:40704246C>A ENST00000356699.5 + 4 1932 c.1903C>A c.(1903-1905)Cag>Aag p.Q635K NM_001083124.1 NP_001076593.1 SPATA31 subfamily A, member 3 p.Q635K(2) AGGGACAAGTCAGGCCAAGGG 0.542000 16 147 2.4624e-09 3.69917e-09 0.008871 1 0 OR5K2 402135 broad.mit.edu 37 3 98216531 98216531 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:98216531G>A ENST00000427338.1 + 1 84 c.7G>A c.(7-9)Gaa>Aaa p.E3K NM_001004737.1 NP_001004737.1 Q8NHB8 OR5K2_HUMAN olfactory receptor, family 5, subfamily K, member 2 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E3K(1) endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 AGGAATGGTTGAAGAAAATCA 0.373000 10 91 0 0 0.006214 0 0 DIP2B 57609 broad.mit.edu 37 12 51100372 51100372 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:51100372G>T ENST00000301180.5 + 21 2492 c.2458G>T c.(2458-2460)Ggt>Tgt p.G820C NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 820 nucleus catalytic activity|transcription factor binding p.G820C(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 GATGGTTAGTGGTCGAAGACA 0.363000 31 54 4.40665e-25 8.37919e-25 0.001786 1 0 FAM19A5 25817 broad.mit.edu 37 22 49103622 49103622 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:49103622G>T ENST00000358295.5 + 3 510 c.335G>T c.(334-336)tGc>tTc p.C112F FAM19A5_ENST00000473898.1_3'UTR|FAM19A5_ENST00000406880.1_Missense_Mutation_p.C40F|FAM19A5_ENST00000402357.1_Missense_Mutation_p.C119F NM_015381.5 NP_056196.2 Q7Z5A7 F19A5_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 119 extracellular region|integral to membrane p.C112F(1)|p.C119F(1) large_intestine(1)|lung(6) 7 all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195) UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119) GGCTGGACGTGCACGCAGCCC 0.612000 30 137 2.81731e-10 4.37079e-10 0.002096 1 0 TNRC18 84629 broad.mit.edu 37 7 5427458 5427458 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:5427458C>A ENST00000399537.4 - 5 2345 c.1997G>T c.(1996-1998)cGc>cTc p.R666L TNRC18_ENST00000430969.1_Missense_Mutation_p.R666L O15417 TNC18_HUMAN trinucleotide repeat containing 18 666 DNA binding p.R666L(2) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) AGAGCCCTCGCGCCCGAAAGC 0.731000 3 35 0.004672 0.00538578 0.004672 1 0 SLC22A3 6581 broad.mit.edu 37 6 160858107 160858107 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:160858107C>T ENST00000392145.1 + 7 1179 c.1152C>T c.(1150-1152)ttC>ttT p.F384F SLC22A3_ENST00000275300.2_Silent_p.F384F O75751 S22A3_HUMAN solute carrier family 22 (organic cation transporter), member 3 384 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity p.F384F(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) TAGACTTTTTCATCTCGGGCG 0.507000 15 177 0 0 0.003163 0 0 ATXN1 6310 broad.mit.edu 37 6 16327891 16327891 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:16327891C>A ENST00000244769.4 - 8 1587 c.651G>T c.(649-651)caG>caT p.Q217H ATXN1_ENST00000436367.1_Missense_Mutation_p.Q217H NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 217 Poly-Gln. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association p.Q217H(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) gctgctgctgctgctgctgct 0.657000 3 13 0.004672 0.00538578 0.004672 1 0 MTTP 4547 broad.mit.edu 37 4 100532334 100532334 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:100532334G>T ENST00000457717.1 + 14 2060 c.1804G>T c.(1804-1806)Gct>Tct p.A602S MTTP_ENST00000511045.1_Missense_Mutation_p.A629S|MTTP_ENST00000265517.5_Missense_Mutation_p.A602S|RP11-766F14.1_ENST00000508578.1_RNA NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 602 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity p.A602S(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) GGAAATGGTCGCTCACAATTA 0.423000 16 94 3.32936e-07 4.56001e-07 0.006122 1 0 AGBL1 123624 broad.mit.edu 37 15 87089343 87089343 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr15:87089343C>A ENST00000441037.2 + 19 2753 c.2658C>A c.(2656-2658)atC>atA p.I886I AGBL1_ENST00000389298.3_Silent_p.I617I|AGBL1_ENST00000421325.2_Silent_p.I886I NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 886 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding p.I886I(1) NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 CATCTACTATCCTAGAGGAGG 0.473000 13 29 0.000219431 0.000266659 0.002450 1 0 NCAPG 64151 broad.mit.edu 37 4 17819644 17819644 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:17819644G>T ENST00000251496.2 + 7 1227 c.1051G>T c.(1051-1053)Gat>Tat p.D351Y NM_022346.3 NP_071741.2 Q9BPX3 CND3_HUMAN non-SMC condensin I complex, subunit G 351 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding p.D351Y(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 27 STAD - Stomach adenocarcinoma(129;0.18) ATCAAAAGGAGATGAAGGTGA 0.323000 40 92 2.19962e-31 4.34171e-31 0.008740 1 0 OR6N2 81442 broad.mit.edu 37 1 158746535 158746535 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:158746535G>A ENST00000339258.1 - 1 890 c.891C>T c.(889-891)atC>atT p.I297I NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I297I(1) endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) TAGCTTTAATGATTTCCTTGT 0.408000 14 164 0 0 0.003163 0 0 ENO3 2027 broad.mit.edu 37 17 4856127 4856127 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:4856127G>T ENST00000323997.6 + 3 255 c.123G>T c.(121-123)acG>acT p.T41T ENO3_ENST00000519584.1_Silent_p.T41T|ENO3_ENST00000518175.1_Silent_p.T41T NM_001976.4|NM_053013.3 NP_001967.3|NP_443739.3 P13929 ENOB_HUMAN enolase 3 (beta, muscle) 41 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity p.T41T(1) cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1) 15 GGGCTTCCACGGGTATCTATG 0.607000 5 12 3.59834e-05 4.50131e-05 0.001168 1 0 KIF6 221458 broad.mit.edu 37 6 39507930 39507930 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:39507930C>A ENST00000287152.7 - 13 1588 c.1494G>T c.(1492-1494)atG>atT p.M498I KIF6_ENST00000373216.3_Missense_Mutation_p.M498I|KIF6_ENST00000373213.4_Missense_Mutation_p.M337I|KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373215.3_Missense_Mutation_p.M498I NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 498 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding p.M498I(2) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 CACGTCTATCCATGCCAGCCA 0.478000 13 241 2.31682e-05 2.93135e-05 0.003163 1 0 CCP110 9738 broad.mit.edu 37 16 19548650 19548650 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:19548650A>T ENST00000396212.2 + 5 2095 c.1659A>T c.(1657-1659)ttA>ttT p.L553F CCP110_ENST00000396208.2_Missense_Mutation_p.L553F|CCP110_ENST00000381396.5_Missense_Mutation_p.L553F NM_014711.4 NP_055526.3 O43303 CP110_HUMAN centriolar coiled coil protein 110kDa 553 Interaction with CEP76. centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding p.L553F(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 CTTCTCCTTTATTGATGCAAA 0.388000 19 52 0 0 0.002299 0 0 UBAP1 51271 broad.mit.edu 37 9 34249796 34249796 + Nonsense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:34249796C>G ENST00000536252.1 + 6 1501 c.1103C>G c.(1102-1104)tCa>tGa p.S368* UBAP1_ENST00000379186.4_Intron|UBAP1_ENST00000540348.1_Nonsense_Mutation_p.S368*|UBAP1_ENST00000297661.4_Nonsense_Mutation_p.S368*|UBAP1_ENST00000359544.2_Nonsense_Mutation_p.S368*|UBAP1_ENST00000545103.1_Nonsense_Mutation_p.S432*|UBAP1_ENST00000543944.1_Nonsense_Mutation_p.S404* NM_001171203.2 NP_001164674.1 Q9NZ09 UBAP1_HUMAN ubiquitin associated protein 1 368 cytoplasm p.S368*(1)|p.S432*(1) endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1) 13 LUSC - Lung squamous cell carcinoma(29;0.00272) CCTAATTTCTCAGTGTCACAA 0.557000 13 161 0 0 0.001368 0 0 FAM171B 165215 broad.mit.edu 37 2 187627260 187627260 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:187627260C>A ENST00000304698.5 + 8 2394 c.2191C>A c.(2191-2193)Cat>Aat p.H731N NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 731 integral to membrane DNA binding p.H731N(1) NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 CAAAAGCATGCATCAGCCCAA 0.483000 43 92 1.89013e-27 3.64415e-27 0.003610 1 0 POSTN 10631 broad.mit.edu 37 13 38154834 38154834 + Splice_Site SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:38154834C>A ENST00000379747.4 - 11 1510 c.1392_splice c.e11-1 p.A465_splice POSTN_ENST00000379749.4_Splice_Site_p.A465_splice|POSTN_ENST00000541481.1_Splice_Site_p.A465_splice|POSTN_ENST00000379743.4_Splice_Site_p.A465_splice|POSTN_ENST00000379742.4_Splice_Site_p.A465_splice|POSTN_ENST00000541179.1_Splice_Site_p.A465_splice NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 465 FAS1 3. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding p.A465S(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) ATGCAGACAGCCTAGGAAAGG 0.438000 28 92 1.7367e-05 2.21083e-05 0.006320 1 0 ABCB5 340273 broad.mit.edu 37 7 20721145 20721145 + Silent SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:20721145T>C ENST00000404938.2 + 15 2377 c.1725T>C c.(1723-1725)acT>acC p.T575T ABCB5_ENST00000258738.6_Silent_p.T130T NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 130 ABC transporter 2. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity p.T130T(1)|p.T575T(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 AAGGTCGGACTACAATCGTGG 0.408000 6 64 0 0 0.001168 0 0 CYP3A43 64816 broad.mit.edu 37 7 99447310 99447310 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:99447310C>T ENST00000342499.4 + 5 600 c.250C>T c.(250-252)Ctt>Ttt p.L84F CYP3A43_ENST00000354829.2_Silent_p.L221L|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000222382.5_Silent_p.L221L|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000312017.5_Silent_p.L221L Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 43 0 YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding p.L221L(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) CCTTTTTACTCTTAATATGTA 0.289000 12 36 0 0 0.001368 0 0 ZNF780B 163131 broad.mit.edu 37 19 40554637 40554637 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:40554637C>A ENST00000434248.1 - 3 141 c.76G>T c.(76-78)Gat>Tat p.D26Y ZNF780B_ENST00000221355.6_5'UTR|ZNF780B_ENST00000598845.1_Missense_Mutation_p.D26Y NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 26 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.D26Y(2) endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTCCTCTGATCAGGCTGCAGG 0.468000 114 125 1.6696e-61 3.36352e-61 0.003610 1 0 IGF2R 3482 broad.mit.edu 37 6 160523695 160523695 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:160523695G>C ENST00000356956.1 + 46 7135 c.6987G>C c.(6985-6987)aaG>aaC p.K2329N IGF2R_ENST00000475584.1_3'UTR NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 2329 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity p.K2329N(1) breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) TCTACAAGAAGGAGAGGAGGT 0.597000 7 6 0 0 0.001984 0 0 ZNF492 57615 broad.mit.edu 37 19 22847748 22847748 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:22847748G>T ENST00000456783.2 + 4 1521 c.1277G>T c.(1276-1278)tGt>tTt p.C426F NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 426 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C426F(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) TGTGAAGAATGTGGCAAAGCT 0.358000 15 75 1.87028e-06 2.50376e-06 0.001882 1 0 PPP1R9A 55607 broad.mit.edu 37 7 94750039 94750039 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:94750039G>T ENST00000289495.5 + 3 1760 c.1544G>T c.(1543-1545)gGt>gTt p.G515V PPP1R9A_ENST00000424654.1_Missense_Mutation_p.G515V|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.G515V|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.G515V|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.G515V|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.G515V NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 515 PDZ. cell junction|synapse|synaptosome actin binding p.G515V(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) GATGGTCTTGGTATAAGTATT 0.418000 HNSCC(28;0.073) 36 172 4.62619e-21 8.51383e-21 0.004289 1 0 GJA8 2703 broad.mit.edu 37 1 147380368 147380368 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:147380368G>T ENST00000240986.4 + 2 339 c.286G>T c.(286-288)Gcg>Tcg p.A96S GJA8_ENST00000369235.1_Missense_Mutation_p.A96S NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 96 cell communication|visual perception connexon complex|integral to plasma membrane channel activity p.A96S(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) CGTGGGGCACGCGGTGCACTA 0.657000 38 44 3.09479e-21 5.70816e-21 0.006999 1 0 DLGAP3 58512 broad.mit.edu 37 1 35365744 35365744 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:35365744G>T ENST00000373347.1 - 4 1506 c.1238C>A c.(1237-1239)cCc>cAc p.P413H DLGAP3_ENST00000235180.4_Missense_Mutation_p.P413H O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 413 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane p.P413H(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) AGATGTCTTGGGGCTGCCGTC 0.652000 13 81 0.00185496 0.00217921 0.001855 1 0 CDC42BPA 8476 broad.mit.edu 37 1 227348290 227348290 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:227348290C>G ENST00000366769.3 - 6 1938 c.647G>C c.(646-648)cGg>cCg p.R216P CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R216P|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R216P|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R216P|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R216P|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R216P|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R216P NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 216 Protein kinase. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity p.R216L(3)|p.R216P(3) NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) ATCTGCTAACCGAATATGTCC 0.294000 24 193 0 0 0.007291 0 0 RYR2 6262 broad.mit.edu 37 1 237944872 237944872 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:237944872G>T ENST00000366574.2 + 89 12205 c.11888G>T c.(11887-11889)aGt>aTt p.S3963I RYR2_ENST00000360064.6_Missense_Mutation_p.S3969I|RYR2_ENST00000542537.1_Missense_Mutation_p.S3947I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3963 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.S3961I(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAGGATTCCAGTCAAATTGAG 0.338000 9 7 4.68919e-08 6.70461e-08 0.008291 1 0 CDH18 1016 broad.mit.edu 37 5 19747068 19747068 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:19747068G>T ENST00000507958.1 - 6 1496 c.506C>A c.(505-507)cCt>cAt p.P169H CDH18_ENST00000511273.1_Missense_Mutation_p.P169H|CDH18_ENST00000502796.1_Missense_Mutation_p.P169H|CDH18_ENST00000506372.1_Missense_Mutation_p.P169H|CDH18_ENST00000382275.1_Missense_Mutation_p.P169H|CDH18_ENST00000274170.4_Missense_Mutation_p.P169H Q13634 CAD18_HUMAN cadherin 18, type 2 169 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P169H(2) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TGACATTTCAGGCACAGTAAC 0.328000 32 101 3.86903e-22 7.19215e-22 0.002836 1 0 ZNF534 147658 broad.mit.edu 37 19 52942160 52942160 + Nonsense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:52942160C>T ENST00000332323.6 + 4 1547 c.1486C>T c.(1486-1488)Cga>Tga p.R496* ZNF534_ENST00000433050.1_Nonsense_Mutation_p.R483*|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron NM_001143939.1 NP_001137411.1 Q76KX8 ZN534_HUMAN zinc finger protein 534 496 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R496*(1) central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 AAACCTTCAACGACATAGGAA 0.398000 5 13 0 0 0.000602 0 0 MPDZ 8777 broad.mit.edu 37 9 13150681 13150681 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:13150681T>A ENST00000319217.7 - 25 3706 c.3459A>T c.(3457-3459)gaA>gaT p.E1153D MPDZ_ENST00000447879.1_Missense_Mutation_p.E1153D|MPDZ_ENST00000381015.4_Missense_Mutation_p.E1153D|MPDZ_ENST00000541718.1_Missense_Mutation_p.E1153D|MPDZ_ENST00000546205.1_Missense_Mutation_p.E1167D|MPDZ_ENST00000381022.2_Missense_Mutation_p.E1153D|MPDZ_ENST00000536827.1_Missense_Mutation_p.E1153D|MPDZ_ENST00000538841.1_Missense_Mutation_p.E45D NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1153 PDZ 7. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding p.E1153D(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) CTCTCCAGAGTTCCACCCTAA 0.393000 8 59 0 0 0.003080 0 0 SCRN3 79634 broad.mit.edu 37 2 175292567 175292567 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:175292567A>G ENST00000272732.6 + 8 1301 c.1219A>G c.(1219-1221)Aca>Gca p.T407A SCRN3_ENST00000409673.3_Missense_Mutation_p.T400A|SCRN3_ENST00000548921.1_3'UTR NM_001193528.1|NM_024583.4 NP_001180457.1|NP_078859.2 Q0VDG4 SCRN3_HUMAN secernin 3 407 proteolysis dipeptidase activity p.T400A(1)|p.T407A(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3) 13 OV - Ovarian serous cystadenocarcinoma(117;0.229) TCCTCAGTGTACAAAAGATGA 0.333000 3 57 0 0 0.004672 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140773763 140773763 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:140773763C>G ENST00000398604.2 + 1 1383 c.1383C>G c.(1381-1383)atC>atG p.I461M PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron NM_032088.1 NP_114477.1 p.I461M(1) endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCGTATATCCTAGAGAACA 0.527000 9 20 0 0 0.008291 0 0 MTMR1 8776 broad.mit.edu 37 X 149901077 149901077 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:149901077G>T ENST00000445323.2 + 10 1076 c.955G>T c.(955-957)Ggt>Tgt p.G319C MTMR1_ENST00000451863.2_Missense_Mutation_p.G311C|MTMR1_ENST00000370390.3_Missense_Mutation_p.G311C|MTMR1_ENST00000538506.1_Missense_Mutation_p.G198C|MTMR1_ENST00000541925.1_Missense_Mutation_p.G217C|MTMR1_ENST00000542156.1_Missense_Mutation_p.G311C|MTMR1_ENST00000544228.1_Missense_Mutation_p.G311C Q13613 MTMR1_HUMAN myotubularin related protein 1 311 Myotubularin phosphatase. plasma membrane protein tyrosine phosphatase activity p.G311C(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GCCACTTGTGGGTCCCAATGA 0.418000 8 15 2.17888e-05 2.76524e-05 0.006214 1 0 BRINP3 339479 broad.mit.edu 37 1 190067891 190067891 + Missense_Mutation SNP G G T rs147799875 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:190067891G>T ENST00000367462.3 - 8 1789 c.1558C>A c.(1558-1560)Cgc>Agc p.R520S FAM5C_ENST00000534846.1_Missense_Mutation_p.R418S|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 520 extracellular region p.R520G(2)|p.R520S(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) CTATTGAGGCGCATGTCATTG 0.453000 15 170 3.45872e-05 4.36614e-05 0.004007 1 0 SETD5 55209 broad.mit.edu 37 3 9512269 9512269 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:9512269G>A ENST00000402466.1 + 20 3325 c.2557G>A c.(2557-2559)Gga>Aga p.G853R SETD5_ENST00000302463.6_Missense_Mutation_p.G853R|SETD5_ENST00000406341.1_Missense_Mutation_p.G951R|SETD5_ENST00000402198.1_Missense_Mutation_p.G951R|SETD5_ENST00000407969.1_Missense_Mutation_p.G970R Q9C0A6 SETD5_HUMAN SET domain containing 5 951 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) TCCCTCCCTCGGACCCACTTC 0.507000 5 187 0 0 0.000602 0 0 TRGJP2 6972 broad.mit.edu 37 7 38295980 38295980 + RNA SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:38295980T>A ENST00000390334.1 - 0 17 GCAAACGTCTTGATCCAATCA 0.353000 7 29 0 0 0.003080 0 0 PLA2R1 22925 broad.mit.edu 37 2 160798647 160798647 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:160798647G>C ENST00000283243.7 - 29 4374 c.4168C>G c.(4168-4170)Cca>Gca p.P1390A PLA2R1_ENST00000460710.1_5'UTR NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1390 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding p.P1390A(1) PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CCTTTTTCTGGCAGCGCCTCT 0.303000 26 45 0 0 0.007291 0 0 COG5 10466 broad.mit.edu 37 7 107053032 107053032 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:107053032T>C ENST00000393603.2 - 7 948 c.677A>G c.(676-678)gAa>gGa p.E226G COG5_ENST00000297135.3_Missense_Mutation_p.E226G|COG5_ENST00000347053.3_Missense_Mutation_p.E226G|COG5_ENST00000475638.2_5'UTR NM_001161520.1 NP_001154992.1 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 226 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding p.E226G(1) breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 TAGATCATTTTCTATCACTTC 0.318000 17 57 0 0 0.004007 0 0 NLRP4 147945 broad.mit.edu 37 19 56370569 56370569 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:56370569T>C ENST00000301295.6 + 3 2232 c.1810T>C c.(1810-1812)Ttt>Ctt p.F604L NLRP4_ENST00000346986.5_Missense_Mutation_p.F604L|NLRP4_ENST00000587891.1_Missense_Mutation_p.F529L NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 604 ATP binding p.F604L(1) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GAAACTCTGTTTTTCCGTTCA 0.408000 17 67 0 0 0.006122 0 0 POP1 10940 broad.mit.edu 37 8 99169910 99169910 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:99169910G>A ENST00000401707.2 + 16 2567 c.2486G>A c.(2485-2487)gGc>gAc p.G829D POP1_ENST00000349693.3_Missense_Mutation_p.G829D NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 829 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity p.G829D(1) autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) AGTCGGGGAGGCCGGCGAGCT 0.567000 20 39 0 0 0.001882 0 0 PADI2 11240 broad.mit.edu 37 1 17396687 17396687 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:17396687T>A ENST00000375486.4 - 15 1723 c.1660A>T c.(1660-1662)Atc>Ttc p.I554F PADI2_ENST00000444885.2_Missense_Mutation_p.I438F|PADI2_ENST00000466151.1_5'UTR NM_007365.2 NP_031391.2 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 554 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity p.I554F(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) TTCTTGAGGATGTCACGGTTC 0.587000 32 113 0 0 0.008740 0 0 ABCA2 20 broad.mit.edu 37 9 139905706 139905706 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:139905706T>A ENST00000265662.5 - 38 6002 c.5855A>T c.(5854-5856)tAc>tTc p.Y1952F ABCA2_ENST00000341511.6_Missense_Mutation_p.Y1952F|ABCA2_ENST00000371605.3_Missense_Mutation_p.Y1951F Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1951 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances p.Y1952F(1) central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GCCCAGGTTGTAGTTGGGGAA 0.617000 15 38 0 0 0.002450 0 0 LAMA4 3910 broad.mit.edu 37 6 112496655 112496655 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:112496655C>A ENST00000230538.7 - 11 1614 c.1217G>T c.(1216-1218)gGg>gTg p.G406V LAMA4_ENST00000522006.1_Missense_Mutation_p.G399V|LAMA4_ENST00000389463.4_Missense_Mutation_p.G399V|LAMA4_ENST00000424408.2_Missense_Mutation_p.G399V NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 406 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding p.G399V(1) NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) ATGCTCTTCCCCATAATAGAG 0.468000 48 117 2.43139e-17 4.33524e-17 0.003610 1 0 HAO1 54363 broad.mit.edu 37 20 7875833 7875833 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:7875833C>A ENST00000378789.3 - 5 811 c.760G>T c.(760-762)Ggg>Tgg p.G254W NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 254 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity p.G254W(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 ACCAAGATCCCATTCAAGCCA 0.488000 28 104 2.70662e-09 4.06238e-09 0.001786 1 0 CCNE1 898 broad.mit.edu 37 19 30303884 30303884 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:30303884G>A ENST00000262643.3 + 4 399 c.120G>A c.(118-120)caG>caA p.Q40Q CCNE1_ENST00000444983.2_Silent_p.Q25Q|CCNE1_ENST00000357943.5_Silent_p.Q40Q NM_001238.2 NP_001229.1 P24864 CCNE1_HUMAN cyclin E1 40 androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm androgen receptor binding|protein kinase binding|transcription coactivator activity p.Q40Q(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1) 20 all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202) AGTTTTTGCAGGATCCAGATG 0.527000 A serous ovarian 41 59 0 0 0.002522 0 0 LRP1B 53353 broad.mit.edu 37 2 141079550 141079550 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:141079550T>A ENST00000389484.3 - 82 13593 c.12622A>T c.(12622-12624)Aat>Tat p.N4208Y NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4208 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.N4208Y(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTGTCATCATTGCAGGTGCCA 0.363000 TSP Lung(27;0.18) 13 123 0 0 0.003163 0 0 ZNF467 168544 broad.mit.edu 37 7 149467542 149467542 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:149467542C>A ENST00000302017.3 - 3 551 c.138G>T c.(136-138)ctG>ctT p.L46L ZNF467_ENST00000484747.1_Silent_p.L46L NM_207336.1 NP_997219.1 Q7Z7K2 ZN467_HUMAN zinc finger protein 467 46 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L46L(1) central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1) 13 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGCACACCCCCAGTGCTCTCT 0.597000 15 47 2.31682e-05 2.93135e-05 0.003163 1 0 FGF5 2250 broad.mit.edu 37 4 81188290 81188290 + Nonsense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:81188290C>A ENST00000456523.3 + 1 498 c.312C>A c.(310-312)taC>taA p.Y104* FGF5_ENST00000312465.7_Nonsense_Mutation_p.Y104* NM_033143.2 NP_149134.1 P12034 FGF5_HUMAN fibroblast growth factor 5 104 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity p.Y104*(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 TGCAGATCTACCCGGATGGCA 0.577000 16 86 1.5739e-10 2.45783e-10 0.004007 1 0 TRIM49C 642612 broad.mit.edu 37 11 89774530 89774530 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:89774530C>G ENST00000448984.1 + 8 1500 c.1171C>G c.(1171-1173)Ctc>Gtc p.L391V TRIM49C_ENST00000432771.1_Intron NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 391 B30.2/SPRY. intracellular zinc ion binding p.L391V(2) endometrium(3)|kidney(1)|lung(4) 8 TCAATGCAGTCTCTTTACCAC 0.418000 9 111 0 0 0.000978 0 0 CCBL1 883 broad.mit.edu 37 9 131597919 131597919 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:131597919C>T ENST00000436267.2 - 12 1314 c.1165G>A c.(1165-1167)Gag>Aag p.E389K CCBL1_ENST00000320665.6_Missense_Mutation_p.E245K|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Missense_Mutation_p.E295K Q16773 KAT1_HUMAN cysteine conjugate-beta lyase, cytoplasmic 295 kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process cytosol|nucleus 1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding p.E295K(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114) AGCAGCTGCTCCCGTTCAAAG 0.602000 3 24 0 0 0.004672 0 0 SEPT1 1731 broad.mit.edu 37 16 30392511 30392511 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:30392511G>T ENST00000321367.3 - 7 681 c.636C>A c.(634-636)atC>atA p.I212I SEPT1_ENST00000605106.1_Silent_p.I170I|SEPT1_ENST00000571393.1_Silent_p.I165I NM_052838.4 NP_443070.5 Q8WYJ6 SEPT1_HUMAN septin 1 165 cell cycle|cell division microtubule organizing center|septin complex GTP binding|protein binding p.I165I(1) breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1) 24 Colorectal(24;0.193) TGACTGGGATGATGTTGACTT 0.587000 20 130 1.96292e-10 3.05098e-10 0.001523 1 0 EPHB6 2051 broad.mit.edu 37 7 142568025 142568025 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:142568025G>T ENST00000392957.2 + 18 3453 c.2666G>T c.(2665-2667)gGa>gTa p.G889V EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000411471.2_Missense_Mutation_p.G612V|EPHB6_ENST00000442129.1_Missense_Mutation_p.G889V NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 889 Protein kinase. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity p.G874V(1) NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) TGTCCTCCTGGATTACATCTA 0.532000 50 296 2.9001e-28 5.62403e-28 0.003610 1 0 LILRA2 11027 broad.mit.edu 37 19 55098788 55098788 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:55098788G>T ENST00000251377.3 + 9 1560 c.1427G>T c.(1426-1428)aGc>aTc p.S476I LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S459I|LILRA2_ENST00000391737.1_Missense_Mutation_p.S447I|LILRA2_ENST00000391738.3_Missense_Mutation_p.S476I|LILRB1_ENST00000396321.2_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 p.S459I(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) AGCCAGAGAAGCCTACAAGAT 0.567000 19 26 2.35188e-11 3.74317e-11 0.006122 1 0 TEP1 7011 broad.mit.edu 37 14 20872001 20872001 + Missense_Mutation SNP C C A rs34770935 byFrequency TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:20872001C>A ENST00000262715.5 - 6 1115 c.1075G>T c.(1075-1077)Gcc>Tcc p.A359S TEP1_ENST00000556935.1_Intron NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 359 TROVE. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding p.A359S(1) NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CGGAGACAGGCGGGCAGGGGC 0.557000 8 145 0.00448238 0.00518158 0.004482 1 0 ATP7B 540 broad.mit.edu 37 13 52520526 52520526 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:52520526C>A ENST00000242839.4 - 13 3110 c.2954G>T c.(2953-2955)tGc>tTc p.C985F ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_Missense_Mutation_p.C778F|ATP7B_ENST00000400370.3_Missense_Mutation_p.C555F|ATP7B_ENST00000400366.3_Missense_Mutation_p.C874F|ATP7B_ENST00000417240.2_Missense_Mutation_p.C257F|ATP7B_ENST00000448424.2_Missense_Mutation_p.C907F|ATP7B_ENST00000418097.2_Intron NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 985 C -> Y (in WD). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding p.C985F(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CCCCAGGGAGCAGGGGCAGGC 0.627000 Wilson disease 8 37 1.12685e-05 1.45231e-05 0.004482 1 0 ACKR3 57007 broad.mit.edu 37 2 237489326 237489326 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:237489326A>T ENST00000272928.3 + 2 528 c.218A>T c.(217-219)aAg>aTg p.K73M NM_020311.2 NP_064707.1 atypical chemokine receptor 3 p.K73M(1) ATCCAGGCCAAGACCACAGGC 0.532000 17 27 0 0 0.004990 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519998 113519998 + Silent SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:113519998G>C ENST00000284601.3 - 4 1217 c.1149C>G c.(1147-1149)tcC>tcG p.S383S NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 383 glycogen metabolic process integral to membrane p.S383S(2) NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 CTCCCTTTACGGAGCTTTCTG 0.398000 61 179 0 0 0.003610 0 0 CSMD3 114788 broad.mit.edu 37 8 113301627 113301627 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:113301627C>A ENST00000297405.5 - 57 9359 c.9115G>T c.(9115-9117)Ggc>Tgc p.G3039C CSMD3_ENST00000343508.3_Missense_Mutation_p.G2999C|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2969C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2870C NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3039 Sushi 21. integral to membrane|plasma membrane p.G2999C(1)|p.G3039C(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CTCCAATGGCCATTCAATTGG 0.423000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 60 95 3.39796e-24 6.41708e-24 0.003610 1 0 KCNH1 3756 broad.mit.edu 37 1 211192227 211192227 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:211192227G>A ENST00000367007.4 - 6 1099 c.930C>T c.(928-930)aaC>aaT p.N310N KCNH1_ENST00000271751.4_Silent_p.N310N NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 310 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity p.N310N(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TCTCAAAAGCGTTGATGACAT 0.483000 38 181 0 0 0.006230 0 0 TRIM29 23650 broad.mit.edu 37 11 119998125 119998125 + Missense_Mutation SNP A A C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:119998125A>C ENST00000341846.5 - 3 1474 c.1053T>G c.(1051-1053)gaT>gaG p.D351E TRIM29_ENST00000541857.1_Missense_Mutation_p.D84E|TRIM29_ENST00000529044.1_Missense_Mutation_p.D90E NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 351 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D351E(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) TGGCTCTCTCATCCAGAGCAT 0.572000 11 146 0 0 0.001368 0 0 KMT2C 58508 broad.mit.edu 37 7 151945260 151945260 + Silent SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:151945260T>C ENST00000355193.2 - 14 2477 c.2259A>G c.(2257-2259)tcA>tcG p.S753S KMT2C_ENST00000262189.6_Silent_p.S753S lysine (K)-specific methyltransferase 2C p.S753S(2) CTCCTTGGTATGAAACATCTT 0.393000 11 239 0 0 0.008291 0 0 OR2M2 391194 broad.mit.edu 37 1 248344254 248344254 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:248344254T>C ENST00000359682.2 + 1 967 c.967T>C c.(967-969)Ttt>Ctt p.F323L NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 323 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F323L(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TGTTTTGCTGTTTGCTAAATT 0.363000 21 296 0 0 0.001882 0 0 TAB1 10454 broad.mit.edu 37 22 39822857 39822857 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:39822857C>A ENST00000216160.6 + 9 1133 c.1071C>A c.(1069-1071)gaC>gaA p.D357E TAB1_ENST00000331454.3_Missense_Mutation_p.D357E NM_006116.2 NP_006107.1 Q15750 TAB1_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 1 357 PP2C-like. activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding p.D357E(1) breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 GGCACGAGGACATGACCCTGC 0.662000 13 118 1.05317e-09 1.60097e-09 0.002450 1 0 PARM1 25849 broad.mit.edu 37 4 75937772 75937772 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:75937772C>T ENST00000307428.7 + 2 393 c.181C>T c.(181-183)Cac>Tac p.H61Y RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron NM_015393.3 NP_056208.2 Q6UWI2 PARM1_HUMAN prostate androgen-regulated mucin-like protein 1 61 positive regulation of telomerase activity early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane p.H61Y(2)|p.H120Y(1) cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 CAACGGCACTCACAACAACTC 0.517000 7 68 0 0 0.001984 0 0 SIMC1 375484 broad.mit.edu 37 5 175751758 175751758 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:175751758G>C ENST00000443967.1 + 9 2519 c.2112G>C c.(2110-2112)caG>caC p.Q704H SIMC1_ENST00000341199.6_Missense_Mutation_p.Q289H|SIMC1_ENST00000332772.4_Missense_Mutation_p.Q165H|SIMC1_ENST00000430704.2_Missense_Mutation_p.Q289H SUMO-interacting motifs containing 1 p.Q704H(1) AGAGGAGCCAGAGGTGAGTCT 0.398000 3 5 0 0 0.000248 0 0 APOB 338 broad.mit.edu 37 2 21246498 21246498 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:21246498C>G ENST00000233242.1 - 17 2630 c.2503G>C c.(2503-2505)Gcc>Ccc p.A835P NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 835 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.A835P(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AGTTCAAAGGCATTCTCCATG 0.448000 9 40 0 0 0.004482 0 0 IGLV3-10 28803 broad.mit.edu 37 22 23154706 23154706 + RNA SNP C C A rs1065470 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:23154706C>A ENST00000390315.2 + 0 310 GCCACCTTGACTATCAGTGGG 0.557000 6 37 3.59834e-05 4.50131e-05 0.001168 1 0 COL5A1 1289 broad.mit.edu 37 9 137703228 137703228 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:137703228C>T ENST00000371817.3 + 45 3986 c.3572C>T c.(3571-3573)cCa>cTa p.P1191L NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1191 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding p.P1191L(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) ATCGGACAGCCAGGCCCCTCT 0.592000 OREG0019605 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 162 0 0 0.001786 0 0 VIL1 7429 broad.mit.edu 37 2 219299256 219299256 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:219299256C>A ENST00000248444.5 + 14 1596 c.1508C>A c.(1507-1509)aCc>aAc p.T503N VIL1_ENST00000392114.2_Missense_Mutation_p.T192N NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 503 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity p.T503N(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAGGGAGGCACCTCCCGAACT 0.602000 23 60 8.24728e-16 1.43808e-15 0.004656 1 0 BICC1 80114 broad.mit.edu 37 10 60577388 60577388 + Missense_Mutation SNP G G A rs141599424 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:60577388G>A ENST00000373886.3 + 19 2604 c.2600G>A c.(2599-2601)tGt>tAt p.C867Y NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 867 multicellular organismal development RNA binding p.C867Y(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 AGCAATGGCTGTAACTTAAAT 0.468000 16 47 0 0 0.003163 0 0 PRDM9 56979 broad.mit.edu 37 5 23526486 23526486 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:23526486C>A ENST00000296682.3 + 11 1471 c.1289C>A c.(1288-1290)cCc>cAc p.P430H NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 430 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.P430H(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CCAGAGAATCCCTGCCCAGGG 0.453000 HNSCC(3;0.000094) 46 114 2.51966e-14 4.268e-14 0.003610 1 0 PCDH18 54510 broad.mit.edu 37 4 138449939 138449939 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:138449939C>A ENST00000344876.4 - 2 2909 c.2523G>T c.(2521-2523)ggG>ggT p.G841G PCDH18_ENST00000511115.1_Silent_p.G21G|PCDH18_ENST00000507846.1_Silent_p.G620G|PCDH18_ENST00000412923.2_Silent_p.G840G|PCDH18_ENST00000510305.1_Silent_p.G52G NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 841 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G841G(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) GCTGATATTGCCCCTGGTGAA 0.408000 23 107 1.1804e-14 2.02633e-14 0.003954 1 0 OSGEP 55644 broad.mit.edu 37 14 20917122 20917122 + Splice_Site SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:20917122C>A ENST00000206542.4 - 5 979 c.e5+1 OSGEP_ENST00000554249.1_Splice_Site|OSGEP_ENST00000555656.1_5'UTR NM_017807.3 NP_060277.1 Q9NPF4 OSGEP_HUMAN O-sialoglycoprotein endopeptidase proteolysis|tRNA processing metal ion binding|metalloendopeptidase activity|protein binding p.?(1) endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1) 11 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196) TGTCCCCTTACCGCTTTGCCA 0.458000 18 241 1.33834e-09 2.02335e-09 0.007413 1 0 AGTR1 185 broad.mit.edu 37 3 148459392 148459392 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:148459392C>T ENST00000542281.1 + 4 1016 c.570C>T c.(568-570)acC>acT p.T190T AGTR1_ENST00000474935.1_Silent_p.T190T|AGTR1_ENST00000461609.1_Silent_p.T190T|AGTR1_ENST00000349243.3_Silent_p.T190T|AGTR1_ENST00000475347.1_Silent_p.T190T|AGTR1_ENST00000497524.1_Silent_p.T190T|AGTR1_ENST00000402260.1_Silent_p.T190T|AGTR1_ENST00000404754.2_Silent_p.T190T|AGTR1_ENST00000418473.2_Silent_p.T190T NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 190 calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity p.T190T(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) AAAATTCAACCCTCCCGATAG 0.398000 9 76 0 0 0.008291 0 0 NR1I3 9970 broad.mit.edu 37 1 161205726 161205726 + Translation_Start_Site SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:161205726G>T ENST00000515621.1 - 0 171 NR1I3_ENST00000412844.2_Missense_Mutation_p.A21D|NR1I3_ENST00000511944.1_Missense_Mutation_p.A50D|NR1I3_ENST00000428574.2_Missense_Mutation_p.A50D|NR1I3_ENST00000442691.2_Missense_Mutation_p.A50D|NR1I3_ENST00000437437.2_Missense_Mutation_p.A21D|NR1I3_ENST00000367979.2_Missense_Mutation_p.A50D|NR1I3_ENST00000367985.3_Missense_Mutation_p.A50D|NR1I3_ENST00000512372.1_Missense_Mutation_p.A21D|NR1I3_ENST00000367980.2_Missense_Mutation_p.A50D|NR1I3_ENST00000502985.1_Missense_Mutation_p.A50D|NR1I3_ENST00000367981.3_Missense_Mutation_p.A21D|NR1I3_ENST00000367982.4_Missense_Mutation_p.A50D|NR1I3_ENST00000506209.1_Missense_Mutation_p.A21D|NR1I3_ENST00000367983.4_Missense_Mutation_p.A50D|NR1I3_ENST00000508740.1_Missense_Mutation_p.A21D|NR1I3_ENST00000511748.1_Missense_Mutation_p.A21D|NR1I3_ENST00000504010.1_Missense_Mutation_p.A21D|NR1I3_ENST00000367984.4_Missense_Mutation_p.A50D|NR1I3_ENST00000515452.1_Missense_Mutation_p.A50D|NR1I3_ENST00000508387.1_Missense_Mutation_p.A21D|NR1I3_ENST00000505005.1_Missense_Mutation_p.A50D|NR1I3_ENST00000511676.1_Missense_Mutation_p.A21D Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding p.A50D(2) endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) ACAGCTTCCAGCAAAGGGGCA 0.542000 10 70 2.80697e-09 4.20919e-09 0.000978 1 0 OR5M1 390168 broad.mit.edu 37 11 56380835 56380835 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:56380835C>A ENST00000526538.1 - 1 143 c.144G>T c.(142-144)ctG>ctT p.L48L NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L48L(1) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 TGGTCCTGATCAGCAGGATCA 0.478000 25 147 1.66031e-10 2.58547e-10 0.003954 1 0 COL6A1 1291 broad.mit.edu 37 21 47410292 47410292 + Splice_Site SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr21:47410292G>C ENST00000361866.3 + 13 1072 c.957_splice c.e13-1 p.G320_splice NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 320 Triple-helical region. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding p.G320R(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) CGCCTCACAGGGAGAGAAGGG 0.642000 3 57 0 0 0.004672 0 0 LRRC59 55379 broad.mit.edu 37 17 48474597 48474597 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:48474597T>A ENST00000225972.7 - 1 317 c.82A>T c.(82-84)Aat>Tat p.N28Y RP1-117B12.4_ENST00000511627.1_RNA|LRRC59_ENST00000576448.1_Missense_Mutation_p.N28Y NM_018509.3 NP_060979.2 Q96AG4 LRC59_HUMAN leucine rich repeat containing 59 28 endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid protein binding p.N28Y(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 13 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) GGGACCTCATTCAGGTCGCTG 0.662000 OREG0024565 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 71 0 0 0.004482 0 0 ARID1B 57492 broad.mit.edu 37 6 157505488 157505488 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:157505488G>A ENST00000346085.5 + 13 3470 c.3469G>A c.(3469-3471)Gaa>Aaa p.E1157K ARID1B_ENST00000350026.5_Missense_Mutation_p.E1144K|ARID1B_ENST00000367148.1_Missense_Mutation_p.E1197K|ARID1B_ENST00000275248.4_Missense_Mutation_p.E1139K NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1144 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity p.E1157K(1)|p.E1139K(1) NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GTGCAAGATCGAACGTGGGGA 0.577000 5 53 0 0 0.001168 0 0 PCDH1 5097 broad.mit.edu 37 5 141236969 141236969 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:141236969T>A ENST00000287008.3 - 4 3314 c.3167A>T c.(3166-3168)cAc>cTc p.H1056L PCDH1_ENST00000503492.1_Missense_Mutation_p.H324L NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 0 cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding p.H1056L(1) breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) ATAGTAACTGTGCTGGGATGG 0.617000 8 24 0 0 0.003080 0 0 BMP4 652 broad.mit.edu 37 14 54416766 54416766 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:54416766C>A ENST00000245451.4 - 4 1604 c.1211G>T c.(1210-1212)gGa>gTa p.G404V BMP4_ENST00000417573.1_Missense_Mutation_p.G404V|BMP4_ENST00000559087.1_Missense_Mutation_p.G404V|BMP4_ENST00000558984.1_Missense_Mutation_p.G404V NM_001202.3 NP_001193.2 P12644 BMP4_HUMAN bone morphogenetic protein 4 404 activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway extracellular space|proteinaceous extracellular matrix BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity p.G404V(1) breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1) 19 GCACCCACATCCCTCTACTAC 0.498000 21 36 8.10497e-08 1.14895e-07 0.001523 1 0 PLXNA4 91584 broad.mit.edu 37 7 131865426 131865426 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:131865426C>A ENST00000359827.3 - 19 4520 c.3558G>T c.(3556-3558)ggG>ggT p.G1186G PLXNA4_ENST00000321063.4_Silent_p.G1186G Q9HCM2 PLXA4_HUMAN plexin A4 1186 IPT/TIG 4. integral to membrane|intracellular|plasma membrane p.G1186G(2) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 ACGGCTTCTCCCCAACCAGCA 0.602000 14 35 5.01169e-05 6.24581e-05 0.004990 1 0 IFNW1 3467 broad.mit.edu 37 9 21141502 21141502 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:21141502C>A ENST00000380229.2 - 1 642 c.68G>T c.(67-69)gGc>gTc p.G23V NM_002177.1 NP_002168.1 P05000 IFNW1_HUMAN interferon, omega 1 23 LG -> EF (in Ref. 7; AAA70091). cell cycle arrest|defense response|response to virus extracellular space cytokine activity|cytokine receptor binding p.G23V(1) endometrium(1)|kidney(1)|lung(2)|ovary(1) 5 GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CAGATCACAGCCCAGAGATCC 0.527000 7 211 3.09899e-07 4.25502e-07 0.004482 1 0 CD40LG 959 broad.mit.edu 37 X 135741286 135741286 + Missense_Mutation SNP A A C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:135741286A>C ENST00000370629.2 + 5 554 c.498A>C c.(496-498)caA>caC p.Q166H CD40LG_ENST00000370628.2_Missense_Mutation_p.Q145H NM_000074.2 NP_000065.1 P29965 CD40L_HUMAN CD40 ligand 166 anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production extracellular space|integral to plasma membrane|soluble fraction CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding p.Q166H(1) endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1) 26 Acute lymphoblastic leukemia(192;0.000127) Atorvastatin(DB01076) TTAAAAGACAAGGACTCTATT 0.453000 Immune Deficiency with Hyper-IgM 116 177 0 0 0.003610 0 0 VN1R2 317701 broad.mit.edu 37 19 53761993 53761993 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:53761993G>T ENST00000341702.3 + 1 449 c.365G>T c.(364-366)aGa>aTa p.R122I NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 122 response to pheromone integral to membrane|plasma membrane pheromone receptor activity p.R122I(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) TACAAGCCAAGATCCACAGAT 0.418000 25 60 3.7963e-18 6.83499e-18 0.003330 1 0 CD1C 911 broad.mit.edu 37 1 158262102 158262102 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:158262102C>A ENST00000368170.3 + 3 836 c.557C>A c.(556-558)cCc>cAc p.P186H NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 186 antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding p.P186H(1) NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) AGCACTTGCCCCCGATTTCTC 0.453000 160 362 1.11784e-71 2.25743e-71 0.003610 1 0 LSAMP 4045 broad.mit.edu 37 3 116163786 116163786 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:116163786G>T ENST00000490035.1 - 1 592 c.93C>A c.(91-93)agC>agA p.S31R LSAMP_ENST00000539563.1_Missense_Mutation_p.S28R NM_002338.3 NP_002329.2 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 31 Ig-like C2-type 1. cell adhesion|nervous system development anchored to membrane|plasma membrane p.S31R(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) TAAAATCCACGCTGCGAACAG 0.577000 10 28 1.04858e-14 1.8019e-14 0.006214 1 0 MATK 4145 broad.mit.edu 37 19 3785124 3785124 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:3785124G>T ENST00000310132.6 - 2 408 c.10C>A c.(10-12)Cga>Aga p.R4R MATK_ENST00000585778.1_Silent_p.R4R|MATK_ENST00000395045.2_Intron|MATK_ENST00000395040.2_Intron NM_139355.2 NP_647612.1 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase 4 cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity p.R4R(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 26 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) AGAGAGCCTCGCCCCGCCATC 0.627000 6 19 0.00198382 0.00231911 0.001984 1 0 CDH10 1008 broad.mit.edu 37 5 24537761 24537761 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:24537761C>A ENST00000264463.4 - 3 761 c.254G>T c.(253-255)gGa>gTa p.G85V NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 85 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G85V(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) TGATCCATCTCCTTTATCTTG 0.363000 HNSCC(23;0.051) 11 57 3.07112e-06 4.04287e-06 0.000978 1 0 ZNF658 26149 broad.mit.edu 37 9 40774548 40774548 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:40774548A>G ENST00000602553.1 - 5 1021 c.727T>C c.(727-729)Tgt>Cgt p.C243R ZNF658_ENST00000441795.1_Missense_Mutation_p.C241R|ZNF658_ENST00000377626.3_Missense_Mutation_p.C243R Q5TYW1 ZN658_HUMAN zinc finger protein 658 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C243R(1) breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TCATCCTTACAGGACTTTTCT 0.333000 6 103 0 0 0.001984 0 0 LRP2 4036 broad.mit.edu 37 2 170012818 170012818 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:170012818C>T ENST00000263816.3 - 65 12402 c.12117G>A c.(12115-12117)atG>atA p.M4039I NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4039 EGF-like 15; calcium-binding (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.M4039I(1) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GGCGGTCACTCATAGACGTGA 0.433000 10 122 0 0 0.008291 0 0 PTGFR 5737 broad.mit.edu 37 1 78958528 78958528 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:78958528G>C ENST00000370756.3 + 2 337 c.100G>C c.(100-102)Gta>Cta p.V34L PTGFR_ENST00000370757.3_Missense_Mutation_p.V34L|PTGFR_ENST00000370758.1_Missense_Mutation_p.V34L NM_001039585.1 NP_001034674.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 34 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity p.V34L(2) breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) ATTTTTTTCAGTAATCTTCAT 0.443000 18 90 0 0 0.007413 0 0 CMA1 1215 broad.mit.edu 37 14 24976618 24976618 + Silent SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:24976618A>G ENST00000250378.3 - 2 182 c.153T>C c.(151-153)tgT>tgC p.C51C CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron NM_001836.3 NP_001827.1 P23946 CMA1_HUMAN chymase 1, mast cell 51 Peptidase S1. interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity p.C51C(1) kidney(1)|lung(8)|pancreas(1)|prostate(1) 11 GBM - Glioblastoma multiforme(265;0.0271) GGAAACCACCACAAAATTTTG 0.488000 64 115 0 0 0.003610 0 0 FAM171B 165215 broad.mit.edu 37 2 187626951 187626951 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:187626951C>A ENST00000304698.5 + 8 2085 c.1882C>A c.(1882-1884)Ctg>Atg p.L628M NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 628 integral to membrane DNA binding p.L628M(1) NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 AAGCAGCTTACTGGAATCCGT 0.493000 40 78 1.03325e-14 1.7774e-14 0.002852 1 0 KCNU1 157855 broad.mit.edu 37 8 36671868 36671868 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:36671868C>T ENST00000399881.3 + 8 913 c.876C>T c.(874-876)ttC>ttT p.F292F NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 292 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity p.F292F(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) GACGGACCTTCATCATGTTCT 0.353000 8 20 0 0 0.008291 0 0 FAM74A3 728495 broad.mit.edu 37 9 40716166 40716166 + RNA SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:40716166G>T ENST00000604146.1 + 0 505 NR_026801.1 p.E106D(1) endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) CATGGAGAGAGCTCAAAGGCT 0.483000 16 66 1.10923e-09 1.68465e-09 0.002780 1 0 C5orf42 65250 broad.mit.edu 37 5 37162576 37162576 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:37162576T>C ENST00000274258.7 - 38 7908 c.4321A>G c.(4321-4323)Aca>Gca p.T1441A C5orf42_ENST00000508244.1_Missense_Mutation_p.T2561A|C5orf42_ENST00000425232.2_Missense_Mutation_p.T2561A E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 2561 p.T1441A(1)|p.T2561A(1) breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) CCTGGGTCTGTATTTGTACTT 0.299000 29 77 0 0 0.007291 0 0 TTN 7273 broad.mit.edu 37 2 179473146 179473146 + Silent SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:179473146T>A ENST00000589042.1 - 275 52688 c.52464A>T c.(52462-52464)ctA>ctT p.L17488L TTN_ENST00000359218.5_Silent_p.L8548L|TTN_ENST00000342175.6_Silent_p.L8615L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.L15847L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.L14920L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.L8423L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15847 Ig-like 103. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.L14920L(2)|p.L8423L(1)|p.L8615L(1)|p.L8548L(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCATTTCACTAGCATACTGT 0.388000 9 23 0 0 0.004482 0 0 CCDC63 160762 broad.mit.edu 37 12 111330915 111330915 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:111330915G>C ENST00000308208.5 + 9 1352 c.1110G>C c.(1108-1110)ttG>ttC p.L370F CCDC63_ENST00000552694.1_Missense_Mutation_p.L291F|CCDC63_ENST00000545036.1_Missense_Mutation_p.L330F NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 370 p.L370F(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 AGCAGAAATTGTCCCACGATG 0.547000 34 53 0 0 0.004878 0 0 HGF 3082 broad.mit.edu 37 7 81350104 81350104 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:81350104G>T ENST00000222390.5 - 10 1454 c.1228C>A c.(1228-1230)Cta>Ata p.L410I HGF_ENST00000457544.2_Missense_Mutation_p.L405I NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 410 Kringle 4. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity p.L410I(1) NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 GAACATGTTAGTCCAGATCTT 0.338000 14 35 3.27435e-08 4.706e-08 0.002450 1 0 ASAP1 50807 broad.mit.edu 37 8 131414157 131414157 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:131414157A>T ENST00000357668.1 - 1 60 c.33T>A c.(31-33)ttT>ttA p.F11L ASAP1_ENST00000518721.1_Missense_Mutation_p.F11L|ASAP1_ENST00000520625.1_5'UTR Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 11 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding p.F11L(1) breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 CTCTCGACGAAAAACTGGAGA 0.517000 43 80 0 0 0.003610 0 0 FZD1 8321 broad.mit.edu 37 7 90895699 90895699 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:90895699G>T ENST00000287934.2 + 1 1917 c.1504G>T c.(1504-1506)Ggc>Tgc p.G502C NM_003505.1 NP_003496.1 Q9UP38 FZD1_HUMAN frizzled family receptor 1 502 autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding p.G502C(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) CCTGTTTATCGGCACGTCCTT 0.602000 12 169 1.08611e-07 1.52147e-07 0.000978 1 0 NOL10 79954 broad.mit.edu 37 2 10729817 10729817 + Nonsense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:10729817G>A ENST00000345985.3 - 17 1443 c.1333C>T c.(1333-1335)Caa>Taa p.Q445* NOL10_ENST00000538384.1_Nonsense_Mutation_p.Q469*|NOL10_ENST00000381685.5_Nonsense_Mutation_p.Q495*|AC092687.5_ENST00000414538.1_RNA|NOL10_ENST00000542668.1_Nonsense_Mutation_p.Q445* NM_001261394.1 NP_001248323.1 Q9BSC4 NOL10_HUMAN nucleolar protein 10 495 nucleolus p.Q445*(1) Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207) TCATCTACTTGGAAGTCAGGG 0.328000 4 9 0 0 0.000248 0 0 ABL1 25 broad.mit.edu 37 9 133760684 133760684 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:133760684A>G ENST00000318560.5 + 11 3388 c.3007A>G c.(3007-3009)Atc>Gtc p.I1003V NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 1003 F-actin-binding.|Pro-rich. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CACCGCCTTCATCCCTCTCAT 0.662000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 4 100 0 0 0.000602 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103182715 103182715 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:103182715G>T ENST00000375735.2 + 79 11746 c.11602G>T c.(11602-11604)Gca>Tca p.A3868S DYNC2H1_ENST00000398093.3_Missense_Mutation_p.A3875S|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3868 AAA 6 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity p.A1308S(1) NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) CTTCAGTCTTGCATGGTTTCA 0.338000 29 134 2.85442e-18 5.14477e-18 0.002096 1 0 NCAPD3 23310 broad.mit.edu 37 11 134073739 134073739 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:134073739C>T ENST00000534548.2 - 11 1342 c.1278G>A c.(1276-1278)gaG>gaA p.E426E NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 426 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding p.E426E(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) TGTTATCCACCTCTCTTTCAG 0.438000 31 113 0 0 0.002096 0 0 LTBP1 4052 broad.mit.edu 37 2 33567972 33567972 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:33567972C>A ENST00000404816.2 + 25 4151 c.3798C>A c.(3796-3798)tcC>tcA p.S1266S LTBP1_ENST00000354476.3_Silent_p.S1267S|LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000402934.1_Silent_p.S887S|LTBP1_ENST00000404525.1_Silent_p.S887S|LTBP1_ENST00000407925.1_Silent_p.S940S|LTBP1_ENST00000390003.4_Silent_p.S941S Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1266 EGF-like 13; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity p.S1267S(1) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CAGCTGGCTCCTTCCGCTGCC 0.448000 10 48 2.17888e-05 2.76524e-05 0.006214 1 0 DUSP28 285193 broad.mit.edu 37 2 241500849 241500849 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:241500849G>A ENST00000405954.1 + 2 879 c.496G>A c.(496-498)Gag>Aag p.E166K DUSP28_ENST00000343217.2_Missense_Mutation_p.E166K Q4G0W2 DUS28_HUMAN dual specificity phosphatase 28 166 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.E166K(1) lung(2)|upper_aerodigestive_tract(1) 3 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311) CCTGCAGGGAGAGCCCCCAGC 0.622000 5 31 0 0 0.001168 0 0 TSIX 9383 broad.mit.edu 37 X 73046399 73046399 + RNA SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:73046399A>G ENST00000604411.1 + 0 34360 XIST_ENST00000429829.1_lincRNA NR_003255.2 CAAAAGAATCAGGCTTAAAGA 0.388000 3 87 0 0 0.004672 0 0 ING1 3621 broad.mit.edu 37 13 111371668 111371668 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:111371668G>T ENST00000375774.3 + 2 1120 c.658G>T c.(658-660)Gcg>Tcg p.A220S ING1_ENST00000375775.3_Missense_Mutation_p.A8S|ING1_ENST00000464141.1_3'UTR|ING1_ENST00000338450.7_Missense_Mutation_p.A33S|ING1_ENST00000333219.7_Missense_Mutation_p.A77S NM_005537.4 NP_005528.3 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 220 cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding p.A77S(1)|p.A33S(1)|p.A220S(1) endometrium(4)|large_intestine(6)|lung(1)|ovary(1) 12 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) TGTGCAGCGCGCGCTGATCCG 0.652000 19 55 9.7654e-05 0.000120256 0.007413 1 0 SUN3 256979 broad.mit.edu 37 7 48046855 48046855 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:48046855C>A ENST00000453192.2 - 6 606 c.363G>T c.(361-363)ctG>ctT p.L121L SUN3_ENST00000297325.4_Silent_p.L133L|SUN3_ENST00000395572.2_Silent_p.L133L|SUN3_ENST00000412142.1_Silent_p.L33L Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 3 133 integral to membrane p.L133L(1) central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCAATGCCTTCAGGACATCTA 0.438000 13 69 1.5842e-08 2.33136e-08 0.001855 1 0 ZFHX4 79776 broad.mit.edu 37 8 77767649 77767649 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:77767649G>T ENST00000521891.2 + 10 8940 c.8492G>T c.(8491-8493)gGa>gTa p.G2831V ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2805V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2786V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2786V NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2786 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G2815V(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GGAAGTTCCGGAGATGTGAAA 0.488000 HNSCC(33;0.089) 10 29 0.000442599 0.000529715 0.006214 1 0 RECK 8434 broad.mit.edu 37 9 36117030 36117030 + Silent SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:36117030A>T ENST00000377966.3 + 17 2675 c.2109A>T c.(2107-2109)ggA>ggT p.G703G NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 703 Kazal-like 2. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity p.G703G(1) cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) ATAAATTTGGATGTAGCCAGT 0.493000 34 125 0 0 0.004878 0 0 VPS13D 55187 broad.mit.edu 37 1 12414217 12414217 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:12414217G>T ENST00000358136.3 + 47 9748 c.9618G>T c.(9616-9618)acG>acT p.T3206T VPS13D_ENST00000356315.4_Silent_p.T3181T NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3205 protein localization p.T3206T(1) NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TTAATGGGACGCTGAAACCTG 0.433000 19 67 2.37509e-13 3.93871e-13 0.001523 1 0 GPN1 11321 broad.mit.edu 37 2 27857779 27857779 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:27857779C>A ENST00000264718.3 + 6 480 c.459C>A c.(457-459)atC>atA p.I153I GPN1_ENST00000458167.2_Silent_p.I44I|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000503738.1_Silent_p.I44I|GPN1_ENST00000424214.1_Silent_p.I60I|ZNF512_ENST00000556601.1_3'UTR|GPN1_ENST00000407583.3_Silent_p.I127I|GPN1_ENST00000515877.1_Silent_p.I60I|RP11-158I13.2_ENST00000505973.1_RNA NM_007266.3 NP_009197.2 Q9HCN4 GPN1_HUMAN GPN-loop GTPase 1 139 cytoplasm GTP binding|nucleoside-triphosphatase activity|protein binding p.I139I(2) endometrium(1)|large_intestine(1)|lung(12) 14 GGACAATTATCACTGAAGCCC 0.403000 14 55 1.49906e-05 1.90978e-05 0.002450 1 0 KHDRBS2 202559 broad.mit.edu 37 6 62604730 62604730 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:62604730C>A ENST00000281156.4 - 6 898 c.620G>T c.(619-621)gGg>gTg p.G207V NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 207 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding p.G207V(1) NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) AATGGCACCCCCACGGCCCCT 0.532000 13 33 2.23348e-06 2.96607e-06 0.004007 1 0 IGKV1D-43 28891 broad.mit.edu 37 2 90249175 90249175 + RNA SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:90249175C>A ENST00000468879.1 + 0 312 GTCACCATCACTTGCTGGGCC 0.468000 22 228 1.64293e-13 2.73274e-13 0.003330 1 0 ABCB5 340273 broad.mit.edu 37 7 20691247 20691247 + Splice_Site SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:20691247G>T ENST00000404938.2 + 13 2188 c.e13+1 ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000443026.2_Splice_Site|ABCB5_ENST00000406935.1_Splice_Site|ABCB5_ENST00000258738.6_Splice_Site NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity p.?(3) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GTTTCCTAATGTGAGTACACT 0.428000 26 54 1.66031e-10 2.58547e-10 0.003954 1 0 ADCY7 113 broad.mit.edu 37 16 50338319 50338319 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:50338319G>C ENST00000394697.2 + 11 1757 c.1417G>C c.(1417-1419)Gac>Cac p.D473H ADCY7_ENST00000254235.3_Missense_Mutation_p.D473H|ADCY7_ENST00000566433.2_Missense_Mutation_p.D473H|ADCY7_ENST00000538642.1_Missense_Mutation_p.D473H|ADCY7_ENST00000537579.1_Intron P51828 ADCY7_HUMAN adenylate cyclase 7 473 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding p.D473H(1) breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) GCCCAAGGGGGACGCGGCCCT 0.697000 4 29 0 0 0.000248 0 0 SYT4 6860 broad.mit.edu 37 18 40853935 40853935 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr18:40853935C>T ENST00000255224.3 - 2 827 c.459G>A c.(457-459)aaG>aaA p.K153K SYT4_ENST00000590752.1_Silent_p.K135K|SYT4_ENST00000586678.1_Intron NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 153 Phospholipid binding (Probable). cell junction|integral to membrane|synaptic vesicle membrane transporter activity p.K153K(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 GAGTTCCCAGCTTCTCTTGTT 0.453000 6 49 0 0 0.001168 0 0 LGR6 59352 broad.mit.edu 37 1 202288240 202288240 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:202288240C>G ENST00000367278.3 + 18 2898 c.2809C>G c.(2809-2811)Ctg>Gtg p.L937V LGR6_ENST00000255432.7_Missense_Mutation_p.L885V|LGR6_ENST00000439764.2_Missense_Mutation_p.L798V NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 937 integral to membrane|plasma membrane protein-hormone receptor activity p.L937V(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 TGGAGAACTGCTGCTGAGGGC 0.612000 18 63 0 0 0.008871 0 0 FAT4 79633 broad.mit.edu 37 4 126372972 126372972 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:126372972C>T ENST00000394329.3 + 9 10814 c.10801C>T c.(10801-10803)Cat>Tat p.H3601Y FAT4_ENST00000335110.5_Missense_Mutation_p.H1899Y NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3601 Cadherin 34. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.H3601Y(2) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AGGAACTGTGCATATCACAGT 0.423000 15 106 0 0 0.003163 0 0 DCC 1630 broad.mit.edu 37 18 50994380 50994380 + Splice_Site SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr18:50994380G>T ENST00000442544.2 + 25 4352 c.3736_splice c.e25+1 p.A1246_splice DCC_ENST00000581580.1_Splice_Site_p.A881_splice NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1246 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.A1246S(1) NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CAACAATCCTGGTGAGTCAAT 0.448000 15 41 2.23348e-06 2.96607e-06 0.004007 1 0 EIF4G1 1981 broad.mit.edu 37 3 184052538 184052538 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:184052538G>T ENST00000342981.4 + 32 5059 c.4645G>T c.(4645-4647)Gca>Tca p.A1549S EIF4G1_ENST00000414031.1_Missense_Mutation_p.A1508S|EIF4G1_ENST00000424196.1_Missense_Mutation_p.A1555S|EIF4G1_ENST00000346169.2_Missense_Mutation_p.A1548S|EIF4G1_ENST00000435046.2_Missense_Mutation_p.A1352S|EIF4G1_ENST00000441154.1_Missense_Mutation_p.A1385S|EIF4G1_ENST00000382330.3_Missense_Mutation_p.A1555S|EIF4G1_ENST00000392537.2_Missense_Mutation_p.A1461S|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.A1353S|EIF4G1_ENST00000427845.1_Missense_Mutation_p.A1462S|EIF4G1_ENST00000319274.6_Missense_Mutation_p.A1548S|EIF4G1_ENST00000352767.3_Missense_Mutation_p.A1555S|EIF4G1_ENST00000350481.5_Missense_Mutation_p.A1384S|EIF4G1_ENST00000411531.1_Missense_Mutation_p.A1509S NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 1548 EIF4A-binding.|W2. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity p.A1548S(1)|p.A1548T(1) central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GTTCTTTGACGCACTGTATGA 0.602000 5 77 0.000602214 0.0007161 0.000602 1 0 NBPF1 55672 broad.mit.edu 37 1 16918357 16918357 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:16918357G>T ENST00000430580.2 - 7 1047 c.160C>A c.(160-162)Cga>Aga p.R54R NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 54 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TTCTTCTGTCGGTTGGCCAGG 0.448000 20 1428 0.000673444 0.000799083 0.008291 1 0 CYP11B2 1585 broad.mit.edu 37 8 143994039 143994039 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:143994039G>T ENST00000323110.2 - 8 1307 c.1305C>A c.(1303-1305)ggC>ggA p.G435G NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 435 G -> S (in dbSNP:rs4545). aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity p.G435G(1) cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GGAAGTTCCTGCCGGAGCCCC 0.627000 Familial Hyperaldosteronism type I 29 51 1.32143e-28 2.56859e-28 0.006320 1 0 CEP97 79598 broad.mit.edu 37 3 101443556 101443556 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:101443556C>T ENST00000341893.3 + 1 788 c.36C>T c.(34-36)ccC>ccT p.P12P CEP97_ENST00000327230.4_Silent_p.P12P|CEP97_ENST00000494050.1_Silent_p.P12P Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 12 centrosome|nucleus protein binding p.P12P(2) cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 CTTTGCCTCCCGGAGAAGGTA 0.532000 9 42 0 0 0.001368 0 0 AP5S1 55317 broad.mit.edu 37 20 3804637 3804637 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:3804637G>T ENST00000246041.2 + 3 515 c.296G>T c.(295-297)cGc>cTc p.R99L AP5S1_ENST00000379567.2_Missense_Mutation_p.R99L|AP5S1_ENST00000379573.2_3'UTR Q9NUS5 CT029_HUMAN adaptor-related protein complex 5, sigma 1 subunit 99 double-strand break repair via homologous recombination protein binding p.R99L(1) GGGGCTTTCCGCCTGGCAGCA 0.662000 10 28 1.76689e-08 2.56385e-08 0.006214 1 0 MBLAC2 153364 broad.mit.edu 37 5 89756990 89756990 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:89756990C>A ENST00000316610.6 - 2 1309 c.834G>T c.(832-834)tcG>tcT p.S278S NM_203406.1 NP_981951.1 Q68D91 MBLC2_HUMAN metallo-beta-lactamase domain containing 2 278 hydrolase activity|metal ion binding p.S278S(1) kidney(1)|liver(1)|lung(3) 5 GATACTAGGGCGAGGTCCTAG 0.318000 7 10 0.00307968 0.00358504 0.003080 1 0 SSH3 54961 broad.mit.edu 37 11 67077689 67077689 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:67077689C>T ENST00000308127.4 + 13 1740 c.1562C>T c.(1561-1563)gCc>gTc p.A521V SSH3_ENST00000376757.5_3'UTR|SSH3_ENST00000308298.7_Intron NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 521 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.A521V(1) NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) AGCCAGGCAGCCCCGAAAGAA 0.602000 27 111 0 0 0.005443 0 0 CMKLR1 1240 broad.mit.edu 37 12 108686144 108686144 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:108686144C>A ENST00000397688.2 - 3 959 c.590G>T c.(589-591)gGg>gTg p.G197V CMKLR1_ENST00000552995.1_Missense_Mutation_p.G197V|CMKLR1_ENST00000312143.7_Missense_Mutation_p.G199V|CMKLR1_ENST00000412676.1_Missense_Mutation_p.G199V|CMKLR1_ENST00000550402.1_Missense_Mutation_p.G199V NM_004072.2 NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 199 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity p.G197V(1) endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 CGAGGAAGACCCAGGTGTGGA 0.567000 18 34 3.32936e-07 4.56001e-07 0.006122 1 0 OR9I1 219954 broad.mit.edu 37 11 57886367 57886367 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:57886367G>T ENST00000302610.1 - 1 549 c.550C>A c.(550-552)Ctg>Atg p.L184M OR9Q1_ENST00000335397.3_Intron NM_001005211.1 NP_001005211.1 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, member 1 184 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L184M(1) endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1) 23 Breast(21;0.0589) AGCTTCAGCAGGGGTGGGAGG 0.488000 9 39 0.00448238 0.00518158 0.004482 1 0 COL27A1 85301 broad.mit.edu 37 9 116956729 116956729 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:116956729G>T ENST00000356083.3 + 6 2453 c.2062G>T c.(2062-2064)Ggg>Tgg p.G688W NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 688 Collagen-like 2.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent p.G688W(1) central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 GGCCCACGATGGGGCAAAGGT 0.527000 27 160 5.61819e-17 9.96388e-17 0.005443 1 0 TGFBR2 7048 broad.mit.edu 37 3 30715670 30715670 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:30715670A>G ENST00000295754.5 + 5 1710 c.1328A>G c.(1327-1329)aAg>aGg p.K443R TGFBR2_ENST00000359013.4_Missense_Mutation_p.K468R NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 443 Protein kinase. activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 GAGTCCTTCAAGCAGACCGAT 0.493000 3 98 0 0 0.004672 0 0 BRINP3 339479 broad.mit.edu 37 1 190250803 190250803 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:190250803G>C ENST00000367462.3 - 3 545 c.314C>G c.(313-315)cCt>cGt p.P105R FAM5C_ENST00000534846.1_Intron|FAM5C_ENST00000484105.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 105 extracellular region p.P105R(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GAAGAATTCAGGGGCAAGAGG 0.413000 15 68 0 0 0.004007 0 0 MYBPC3 4607 broad.mit.edu 37 11 47360129 47360129 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:47360129C>A ENST00000399249.2 - 22 2304 c.2250G>T c.(2248-2250)acG>acT p.T750T MYBPC3_ENST00000256993.4_Silent_p.T749T|MYBPC3_ENST00000545968.1_Silent_p.T750T Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 749 Ig-like C2-type 5. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding p.T750T(1) breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) TCACTGTGACCGTGTAGACGC 0.632000 16 27 3.52763e-06 4.63281e-06 0.004990 1 0 FAM120B 84498 broad.mit.edu 37 6 170627006 170627006 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:170627006G>T ENST00000476287.1 + 2 636 c.528G>T c.(526-528)ctG>ctT p.L176L FAM120B_ENST00000540480.1_Silent_p.L188L|FAM120B_ENST00000537664.1_Silent_p.L199L|FAM120B_ENST00000252510.9_Intron NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 176 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.L176L(1) endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) TTGGGATTCTGGGGGAAGACA 0.478000 35 90 1.36615e-20 2.50309e-20 0.002836 1 0 DTWD1 56986 broad.mit.edu 37 15 49935624 49935624 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr15:49935624A>T ENST00000251250.6 + 6 971 c.764A>T c.(763-765)tAc>tTc p.Y255F DTWD1_ENST00000403028.3_Missense_Mutation_p.Y255F|DTWD1_ENST00000558653.1_Missense_Mutation_p.Y255F|DTWD1_ENST00000415425.1_Missense_Mutation_p.Y168F NM_020234.5 NP_064619.2 Q8N5C7 DTWD1_HUMAN DTW domain containing 1 255 p.Y255F(1) endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all_lung(180;0.0384) all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05) GAAGCCATTTACTACTTTCTG 0.328000 25 58 0 0 0.006320 0 0 NOS2 4843 broad.mit.edu 37 17 26116678 26116678 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:26116678G>A ENST00000313735.6 - 3 380 c.147C>T c.(145-147)ctC>ctT p.L49L NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 49 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding p.L49L(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) GCTGCTTGCTGAGGTTGTGAT 0.567000 27 78 0 0 0.006320 0 0 NKAPL 222698 broad.mit.edu 37 6 28227250 28227250 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:28227250G>C ENST00000343684.3 + 1 153 c.101G>C c.(100-102)tGt>tCt p.C34S NM_001007531.1 NP_001007532.1 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 34 p.C34S(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 CAGAGCAGATGTTCCTCTTGG 0.637000 16 39 0 0 0.003163 0 0 ATP2A1 487 broad.mit.edu 37 16 28905841 28905841 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:28905841G>T ENST00000395503.4 + 11 1384 c.1200G>T c.(1198-1200)aaG>aaT p.K400N ATP2A1_ENST00000536376.1_Missense_Mutation_p.K275N|ATP2A1_ENST00000357084.3_Missense_Mutation_p.K400N NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 400 Interacts with phospholamban 1 (By similarity). apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity p.K400N(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 AGAATGATAAGCCAGTCCGGC 0.572000 8 30 5.18039e-06 6.77656e-06 0.003080 1 0 MED12L 116931 broad.mit.edu 37 3 151083776 151083776 + Silent SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:151083776A>G ENST00000474524.1 + 21 3257 c.3219A>G c.(3217-3219)gtA>gtG p.V1073V P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Silent_p.V933V NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1073 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.V1073V(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTTGCACTGTAGATGTAAGTT 0.343000 16 133 0 0 0.004990 0 0 NPTX1 4884 broad.mit.edu 37 17 78444785 78444785 + Missense_Mutation SNP A A C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:78444785A>C ENST00000306773.4 - 5 1284 c.1127T>G c.(1126-1128)cTg>cGg p.L376R NM_002522.3 NP_002513.2 Q15818 NPTX1_HUMAN neuronal pentraxin I 376 Pentaxin. central nervous system development|synaptic transmission|transport transport vesicle metal ion binding p.L376R(1) kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1) 11 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487) GAAGTGGGCCAGCTCACCCAC 0.607000 4 59 0 0 0.000602 0 0 TTN 7273 broad.mit.edu 37 2 179611108 179611108 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:179611108T>C ENST00000360870.5 - 46 16241 c.16019A>G c.(16018-16020)cAt>cGt p.H5340R TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8847 Ig-like 34. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATACTTTTATGGTCAGGAGT 0.338000 22 32 0 0 0.002780 0 0 XIST 7503 broad.mit.edu 37 X 73064219 73064219 + RNA SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:73064219G>T ENST00000429829.1 - 0 8369 NR_001564.2 GGGAGTCCATGAGAAGGTGCC 0.423000 14 19 1.5842e-08 2.33136e-08 0.001855 1 0 FGD5 152273 broad.mit.edu 37 3 14861919 14861919 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:14861919G>T ENST00000285046.5 + 1 1451 c.1341G>T c.(1339-1341)caG>caT p.Q447H FGD5_ENST00000543601.1_Missense_Mutation_p.Q206H NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 447 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding p.Q206H(1)|p.Q447H(1) NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 AAGGAGGGCAGGCTGCATCGG 0.627000 15 23 1.99824e-07 2.77347e-07 0.004990 1 0 TM7SF3 51768 broad.mit.edu 37 12 27129254 27129254 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:27129254C>G ENST00000343028.4 - 10 1451 c.1226G>C c.(1225-1227)tGg>tCg p.W409S RP11-421F16.3_ENST00000500632.1_RNA NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 409 integral to membrane|plasma membrane p.W409S(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) GAAAGTGACCCAGAATACACC 0.343000 7 35 0 0 0.003080 0 0 LELP1 149018 broad.mit.edu 37 1 153177398 153177398 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:153177398A>T ENST00000368747.1 + 2 325 c.215A>T c.(214-216)cAg>cTg p.Q72L NM_001010857.1 NP_001010857.1 Q5T871 LELP1_HUMAN late cornified envelope-like proline-rich 1 72 Cys/Pro-rich. p.Q72L(1) NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1) 19 all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TGCCCTCCCCAGCCCTGCACC 0.622000 37 36 0 0 0.003271 0 0 ABCC1 4363 broad.mit.edu 37 16 16162136 16162136 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:16162136A>G ENST00000399408.2 + 13 1976 c.1801A>G c.(1801-1803)Atg>Gtg p.M601V ABCC1_ENST00000346370.5_Missense_Mutation_p.M601V|ABCC1_ENST00000349029.5_Missense_Mutation_p.M601V|ABCC1_ENST00000399410.3_Missense_Mutation_p.M601V|ABCC1_ENST00000345148.5_Missense_Mutation_p.M601V|ABCC1_ENST00000351154.5_Missense_Mutation_p.M601V P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 601 ABC transmembrane type-1 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances p.M601V(1) breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CATTCTCCCCATGGTCATCAG 0.577000 10 130 0 0 0.001368 0 0 CWF19L2 143884 broad.mit.edu 37 11 107299594 107299594 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:107299594T>A ENST00000282251.5 - 8 1391 c.1364A>T c.(1363-1365)cAa>cTa p.Q455L CWF19L2_ENST00000433523.1_Missense_Mutation_p.Q455L NM_152434.2 NP_689647.2 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control (S. pombe) 455 catalytic activity p.Q301L(1)|p.Q455L(1) endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) GACTTCATCTTGTGATTTTTC 0.373000 34 329 0 0 0.002445 0 0 TARS2 80222 broad.mit.edu 37 1 150469316 150469316 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:150469316A>T ENST00000369064.3 + 9 986 c.952A>T c.(952-954)Agc>Tgc p.S318C TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000463555.1_Intron|TARS2_ENST00000369054.2_Intron|TARS2_ENST00000606933.1_Intron NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 318 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity p.S318C(1) cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) CCATGAACTGAGCCCTGGGAG 0.522000 9 93 0 0 0.008291 0 0 CCDC178 374864 broad.mit.edu 37 18 30992007 30992007 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr18:30992007G>T ENST00000383096.3 - 3 228 c.46C>A c.(46-48)Caa>Aaa p.Q16K CCDC178_ENST00000583930.1_Missense_Mutation_p.Q16K|CCDC178_ENST00000406524.2_Missense_Mutation_p.Q16K|CCDC178_ENST00000579947.1_Missense_Mutation_p.Q16K|CCDC178_ENST00000403303.1_Missense_Mutation_p.Q16K|CCDC178_ENST00000300227.8_Missense_Mutation_p.Q16K|CCDC178_ENST00000402325.1_Missense_Mutation_p.Q16K|CCDC178_ENST00000579916.1_Missense_Mutation_p.Q16K coiled-coil domain containing 178 p.Q16K(2) ATATTGGTTTGATCATCTCTA 0.279000 9 38 0.000151284 0.000185337 0.001855 1 0 CD200R1 131450 broad.mit.edu 37 3 112648058 112648058 + Nonsense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:112648058C>A ENST00000471858.1 - 3 662 c.430G>T c.(430-432)Gga>Tga p.G144* CD200R1_ENST00000440122.2_Nonsense_Mutation_p.G167*|CD200R1_ENST00000295863.4_Nonsense_Mutation_p.G122*|CD200R1_ENST00000308611.3_Nonsense_Mutation_p.G167*|CD200R1_ENST00000490004.1_Nonsense_Mutation_p.G144* NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 144 Ig-like C2-type. interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity p.G167*(2) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 AGGTGATATCCACGATGGAAA 0.428000 19 93 2.4624e-09 3.69917e-09 0.008871 1 0 KCNA6 3742 broad.mit.edu 37 12 4919230 4919230 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:4919230C>T ENST00000433855.1 + 1 889 c.23C>T c.(22-24)aCg>aTg p.T8M KCNA6_ENST00000280684.3_Missense_Mutation_p.T8M NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 8 voltage-gated potassium channel complex voltage-gated potassium channel activity p.T8M(1) NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 AAATCCCTTACGCTGGCGGCG 0.716000 HNSCC(72;0.22) 9 42 0 0 0.004482 0 0 POTEF 728378 broad.mit.edu 37 2 130832240 130832240 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:130832240G>T ENST00000357462.5 - 15 2898 c.2805C>A c.(2803-2805)tcC>tcA p.S935S POTEF_ENST00000409914.2_Silent_p.S935S A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 935 Actin-like. cell cortex ATP binding p.S935S(1) breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 TCTTCTCTAGGGAGGAGCTGG 0.622000 20 45 0.000229342 0.000278498 0.001882 1 0 ZNF385D 79750 broad.mit.edu 37 3 21606120 21606120 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:21606120G>A ENST00000281523.2 - 3 740 c.222C>T c.(220-222)caC>caT p.H74H ZNF385D-AS1_ENST00000412369.1_RNA|ZNF385D_ENST00000494118.1_5'UTR NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 74 nucleus nucleic acid binding|zinc ion binding p.H74H(1) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 GCTTTCTTCGGTGGGGAAGAG 0.318000 22 69 0 0 0.002780 0 0 PKDREJ 10343 broad.mit.edu 37 22 46655703 46655703 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:46655703G>C ENST00000253255.5 - 1 3516 c.3517C>G c.(3517-3519)Cgg>Ggg p.R1173G NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1173 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity p.R1173G(1) NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) ATGTTTAACCGTAGATCCACA 0.493000 55 180 0 0 0.003610 0 0 LHFP 10186 broad.mit.edu 37 13 40174972 40174972 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:40174972C>A ENST00000379589.3 - 2 844 c.382G>T c.(382-384)Ggg>Tgg p.G128W NM_005780.2 NP_005771.1 Q9Y693 LHFP_HUMAN lipoma HMGIC fusion partner 128 integral to membrane DNA binding p.G128W(1) HMGA2/LHFP(2) breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114) OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105) CACTTACCCCCAAGAAACTGA 0.473000 T HMGA2 lipoma 24 87 2.44723e-14 4.15379e-14 0.004656 1 0 PDHA2 5161 broad.mit.edu 37 4 96762029 96762029 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:96762029G>T ENST00000295266.4 + 1 791 c.728G>T c.(727-729)aGg>aTg p.R243M NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 243 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity p.R243M(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) TACTACAAGAGGGGCAATTTT 0.438000 24 67 5.61819e-17 9.96388e-17 0.005443 1 0 TRPV6 55503 broad.mit.edu 37 7 142572888 142572888 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:142572888G>A ENST00000359396.3 - 9 1397 c.1152C>T c.(1150-1152)atC>atT p.I384I NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 384 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding p.I384I(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) CGACCAGCCGGATATCGTCCT 0.567000 5 106 0 0 0.000602 0 0 ASB5 140458 broad.mit.edu 37 4 177142722 177142722 + Silent SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:177142722A>T ENST00000296525.3 - 4 527 c.414T>A c.(412-414)acT>acA p.T138T ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Silent_p.T85T NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 138 intracellular signal transduction p.T138T(1) endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) TGAATAACGGAGTCACGCCAT 0.458000 14 35 0 0 0.002450 0 0 TCEANC2 127428 broad.mit.edu 37 1 54520164 54520164 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:54520164G>T ENST00000234827.1 + 2 269 c.69G>T c.(67-69)aaG>aaT p.K23N TCEANC2_ENST00000498272.1_3'UTR|TCEANC2_ENST00000371331.1_Missense_Mutation_p.K53N NM_153035.1 NP_694580.1 Q96MN5 TEAN2_HUMAN transcription elongation factor A (SII) N-terminal and central domain containing 2 23 transcription, DNA-dependent nucleus DNA binding p.K23_V24>NF(1) kidney(1)|lung(3)|pancreas(1) 5 CTGGAGGAAAGGTTTACAAGC 0.478000 8 43 3.09899e-07 4.25502e-07 0.004482 1 0 UBE2N 7334 broad.mit.edu 37 12 93804897 93804897 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:93804897C>A ENST00000318066.2 - 2 586 c.209G>T c.(208-210)cGt>cTt p.R70L UBE2N_ENST00000549833.1_Missense_Mutation_p.R7L|UBE2N_ENST00000550657.1_Missense_Mutation_p.R70L|UBE2N_ENST00000552442.1_Missense_Mutation_p.R70L NM_003348.3 NP_003339.1 P61088 UBE2N_HUMAN ubiquitin-conjugating enzyme E2N 70 DNA double-strand break processing|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of DNA repair|positive regulation of histone modification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus|UBC13-MMS2 complex|UBC13-UEV1A complex|ubiquitin ligase complex ATP binding|ubiquitin binding|ubiquitin-protein ligase activity p.R70L(1) endometrium(3)|liver(2)|lung(5) 10 GGTCATGAAACGTACTTTAGG 0.388000 Direct reversal of damage;Rad6 pathway 43 63 8.20599e-20 1.49527e-19 0.002852 1 0 DNTTIP2 30836 broad.mit.edu 37 1 94342676 94342676 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:94342676C>A ENST00000436063.2 - 2 872 c.815G>T c.(814-816)aGa>aTa p.R272I DNTTIP2_ENST00000460191.1_5'UTR NM_014597.4 NP_055412.2 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 2 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.R272I(1) NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) TTCTGAACTTCTGTGGGAGAA 0.338000 14 81 1.49906e-05 1.90978e-05 0.002450 1 0 ADCY2 108 broad.mit.edu 37 5 7520898 7520898 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:7520898C>T ENST00000338316.4 + 3 545 c.456C>T c.(454-456)ccC>ccT p.P152P NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 152 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding p.P152P(1) NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 CCATGCTGCCCTTCAACATGC 0.522000 6 124 0 0 0.001168 0 0 DZIP1 22873 broad.mit.edu 37 13 96264337 96264337 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:96264337T>A ENST00000347108.3 - 9 1700 c.1268A>T c.(1267-1269)cAg>cTg p.Q423L DZIP1_ENST00000376829.2_Missense_Mutation_p.Q423L|DZIP1_ENST00000361156.3_Missense_Mutation_p.Q423L|DZIP1_ENST00000361396.2_Missense_Mutation_p.Q423L Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 423 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding p.Q423L(2) endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) CTGGAGTCTCTGCCCTagctc 0.433000 26 132 0 0 0.003954 0 0 KCNK9 51305 broad.mit.edu 37 8 140631039 140631039 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:140631039G>T ENST00000520439.1 - 2 650 c.587C>A c.(586-588)aCg>aAg p.T196K KCNK9_ENST00000303015.1_Missense_Mutation_p.T196K Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 196 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity p.T196K(1) NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) GGTAGTCAACGTGATGAAGCA 0.577000 33 40 8.4185e-14 1.41159e-13 0.002445 1 0 ZEB1 6935 broad.mit.edu 37 10 31750000 31750000 + Silent SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:31750000A>G ENST00000446923.2 + 2 433 c.42A>G c.(40-42)tcA>tcG p.S14S ZEB1_ENST00000542815.3_Intron|ZEB1_ENST00000560721.2_Silent_p.S31S|ZEB1_ENST00000361642.5_Silent_p.S31S|ZEB1_ENST00000320985.10_Silent_p.S31S|ZEB1_ENST00000559858.1_3'UTR NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 31 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding p.S31S(1) NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) AAACAAATTCAGATTCAGATG 0.353000 12 23 0 0 0.001855 0 0 CDH8 1006 broad.mit.edu 37 16 61858985 61858985 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:61858985G>T ENST00000577390.1 - 5 1720 c.766C>A c.(766-768)Ctg>Atg p.L256M CDH8_ENST00000299345.6_Missense_Mutation_p.L256M|CDH8_ENST00000577730.1_Missense_Mutation_p.L256M|CDH8_ENST00000584337.1_Missense_Mutation_p.L256M NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 256 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L256M(1) biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GTCCCAGACAGGCCACCAGAG 0.448000 14 73 2.31682e-05 2.93135e-05 0.003163 1 0 ROBO3 64221 broad.mit.edu 37 11 124742353 124742353 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:124742353C>A ENST00000397801.1 + 8 1427 c.1235C>A c.(1234-1236)aCc>aAc p.T412N ROBO3_ENST00000538940.1_Missense_Mutation_p.T390N NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 412 Ig-like C2-type 4. axon midline choice point recognition integral to membrane receptor activity p.T412N(2) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) CTTAACATCACCGCGGTGCAG 0.602000 9 50 1.12685e-05 1.45231e-05 0.004482 1 0 GCNT1 2650 broad.mit.edu 37 9 79117415 79117415 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:79117415T>A ENST00000442371.1 + 3 1057 c.118T>A c.(118-120)Ttt>Att p.F40I GCNT1_ENST00000536223.1_Missense_Mutation_p.F40I|GCNT1_ENST00000444201.2_Missense_Mutation_p.F40I|GCNT1_ENST00000376730.4_Missense_Mutation_p.F40I NM_001097634.1 NP_001091103.1 Q02742 GCNT1_HUMAN glucosaminyl (N-acetyl) transferase 1, core 2 40 Stem region (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity p.F40I(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1) 30 AAAGCCTGAATTTGTAAGTGT 0.378000 12 95 0 0 0.001368 0 0 VCAN 1462 broad.mit.edu 37 5 82815315 82815315 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:82815315C>G ENST00000265077.3 + 7 1755 c.1190C>G c.(1189-1191)cCc>cGc p.P397R VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.P397R|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.P349R NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 397 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding p.P397R(1) NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GAGTTCCCTCCCGTGGGAAAT 0.433000 30 96 0 0 0.001786 0 0 COPS5 10987 broad.mit.edu 37 8 67958151 67958151 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:67958151C>A ENST00000357849.4 - 7 1136 c.816G>T c.(814-816)aaG>aaT p.K272N PPP1R42_ENST00000517834.1_Intron|COPS5_ENST00000517736.1_3'UTR NM_006837.2 NP_006828.2 Q92905 CSN5_HUMAN COP9 signalosome subunit 5 272 cullin deneddylation|transcription from RNA polymerase II promoter eukaryotic translation initiation factor 3 complex|signalosome metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity p.K272N(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3) 14 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153) ACTGCTCTAACTTTTCAGACA 0.433000 25 71 1.64293e-13 2.73274e-13 0.003330 1 0 CTNNA2 1496 broad.mit.edu 37 2 80874769 80874769 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:80874769C>A ENST00000466387.1 + 22 3214 c.2490C>A c.(2488-2490)ctC>ctA p.L830L CTNNA2_ENST00000496558.1_Silent_p.L830L|CTNNA2_ENST00000343114.3_Silent_p.L509L|CTNNA2_ENST00000361291.4_Silent_p.L864L|CTNNA2_ENST00000402739.4_Silent_p.L878L|CTNNA2_ENST00000540488.1_Silent_p.L785L|CTNNA2_ENST00000541047.1_Silent_p.L830L P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 878 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton p.L830L(1) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CTGTTGTCCTCACGGTGAAAG 0.478000 26 144 7.38237e-10 1.12947e-09 0.006320 1 0 NETO2 81831 broad.mit.edu 37 16 47117419 47117419 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:47117419C>T ENST00000562435.1 - 9 1675 c.1291G>A c.(1291-1293)Gcc>Acc p.A431T NETO2_ENST00000303155.5_Missense_Mutation_p.A424T NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 431 integral to membrane receptor activity p.A431S(1)|p.A431T(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) CAGCGGGAGGCGGTGGAGGAG 0.527000 HNSCC(25;0.065) 27 98 0 0 0.006320 0 0 RBM26 64062 broad.mit.edu 37 13 79929484 79929484 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:79929484G>A ENST00000438737.2 - 12 2165 c.1725C>T c.(1723-1725)atC>atT p.I575I RBM26_ENST00000267229.7_Silent_p.I575I|RBM26_ENST00000438724.1_Silent_p.I575I Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 575 RRM 1. mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding p.I575I(2) NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) TTGCAAATTGGATTAGGGCAC 0.343000 4 55 0 0 0.000248 0 0 OR13C8 138802 broad.mit.edu 37 9 107331853 107331853 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:107331853C>T ENST00000335040.1 + 1 405 c.405C>T c.(403-405)atC>atT p.I135I NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I135I(1) NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 ACCCTGTCATCATGAGCAAGG 0.537000 15 62 0 0 0.003163 0 0 CTNND2 1501 broad.mit.edu 37 5 11236895 11236895 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:11236895G>C ENST00000304623.8 - 10 1858 c.1669C>G c.(1669-1671)Cag>Gag p.Q557E CTNND2_ENST00000359640.2_Missense_Mutation_p.Q557E|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.Q124E|CTNND2_ENST00000503622.1_Missense_Mutation_p.Q220E|CTNND2_ENST00000511377.1_Missense_Mutation_p.Q466E NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 557 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding p.Q557K(1)|p.Q557E(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TGCAACATCTGAATCACTTCC 0.483000 52 118 0 0 0.003610 0 0 TRIML1 339976 broad.mit.edu 37 4 189068295 189068295 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:189068295G>T ENST00000332517.3 + 6 1316 c.1176G>T c.(1174-1176)tcG>tcT p.S392S TRIML1_ENST00000507581.1_3'UTR NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 392 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding p.S392S(1) NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) TCTGGGTCTCGTCACCTTTGA 0.493000 34 109 1.26612e-14 2.16899e-14 0.003271 1 0 CTNNA2 1496 broad.mit.edu 37 2 80646707 80646707 + Missense_Mutation SNP A A C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:80646707A>C ENST00000466387.1 + 13 1995 c.1271A>C c.(1270-1272)cAt>cCt p.H424P CTNNA2_ENST00000496558.1_Missense_Mutation_p.H424P|CTNNA2_ENST00000343114.3_Missense_Mutation_p.H103P|CTNNA2_ENST00000361291.4_Missense_Mutation_p.H458P|CTNNA2_ENST00000402739.4_Missense_Mutation_p.H424P|CTNNA2_ENST00000540488.1_Missense_Mutation_p.H424P|CTNNA2_ENST00000541047.1_Missense_Mutation_p.H424P P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 424 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton p.H424P(1) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 TTCCGTGAGCATGCCAACAAA 0.443000 10 70 0 0 0.001368 0 0 PARK2 5071 broad.mit.edu 37 6 162394430 162394430 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:162394430C>A ENST00000366898.1 - 6 740 c.638G>T c.(637-639)gGa>gTa p.G213V PARK2_ENST00000366892.1_Missense_Mutation_p.G213V|PARK2_ENST00000366894.1_Missense_Mutation_p.G22V|PARK2_ENST00000366896.1_Missense_Mutation_p.G64V|PARK2_ENST00000366897.1_Missense_Mutation_p.G185V|PARK2_ENST00000338468.3_Missense_Mutation_p.G22V NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 213 SYT11 binding 1. aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding p.G213V(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) GGGGTGTGCTCCACATTTAAA 0.413000 11 39 3.03607e-14 5.12704e-14 0.001368 1 0 MAP4K4 9448 broad.mit.edu 37 2 102314937 102314937 + Silent SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:102314937T>C ENST00000413150.2 + 2 115 c.60T>C c.(58-60)gaT>gaC p.D20D MAP4K4_ENST00000324219.4_Silent_p.D20D|MAP4K4_ENST00000302217.5_Silent_p.D20D|MAP4K4_ENST00000350198.4_Silent_p.D20D|MAP4K4_ENST00000456652.1_Silent_p.D20D|MAP4K4_ENST00000425019.1_Silent_p.D20D|MAP4K4_ENST00000347699.4_Silent_p.D20D NM_001242560.1|NM_004834.4 NP_001229489.1|NP_004825.3 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 20 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CTCTCCAGGATCCTGCTGGGA 0.473000 8 380 0 0 0.003080 0 0 RLIM 51132 broad.mit.edu 37 X 73812542 73812542 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:73812542G>A ENST00000332687.6 - 4 826 c.608C>T c.(607-609)cCa>cTa p.P203L RLIM_ENST00000349225.2_Missense_Mutation_p.P203L NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 203 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding p.P203L(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCTGGTAGGTGGGACCTCTGT 0.498000 43 79 0 0 0.003610 0 0 LSP1 4046 broad.mit.edu 37 11 1904748 1904748 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:1904748G>C ENST00000406638.2 + 4 1572 c.270G>C c.(268-270)caG>caC p.Q90H LSP1_ENST00000405957.2_Missense_Mutation_p.Q90H|LSP1_ENST00000381775.1_Missense_Mutation_p.Q280H|LSP1_ENST00000311604.3_Missense_Mutation_p.Q152H|LSP1_ENST00000485341.1_3'UTR NM_001013254.1|NM_001013255.1 NP_001013272.1|NP_001013273.1 P33241 LSP1_HUMAN lymphocyte-specific protein 1 152 cellular component movement|cellular defense response actin cytoskeleton|Golgi apparatus|plasma membrane actin binding|signal transducer activity p.Q152H(1)|p.Q90H(1) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856) ACACTGTCCAGGACAACCTGG 0.637000 7 27 0 0 0.001984 0 0 LMNB1 4001 broad.mit.edu 37 5 126156789 126156789 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:126156789G>C ENST00000261366.5 + 7 1709 c.1348G>C c.(1348-1350)Gat>Cat p.D450H LMNB1_ENST00000460265.1_3'UTR NM_001198557.1|NM_005573.3 NP_001185486.1|NP_005564.1 P20700 LMNB1_HUMAN lamin B1 450 Tail. cellular component disassembly involved in apoptosis lamin filament|nuclear inner membrane protein binding|structural molecule activity p.D450H(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.103)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903) AATTGATGTTGATGGGAAATT 0.408000 15 63 0 0 0.004990 0 0 FSIP2 401024 broad.mit.edu 37 2 186670134 186670134 + Silent SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:186670134T>C ENST00000343098.5 + 17 16368 c.16368T>C c.(16366-16368)gaT>gaC p.D5456D FSIP2_ENST00000424728.1_Silent_p.D5367D NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 p.D65D(2) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CATCTCATGATATTCAAAAAG 0.333000 5 61 0 0 0.001984 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216396 20216396 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:20216396G>A ENST00000331723.1 + 1 810 c.810G>A c.(808-810)aaG>aaA p.K270K NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K270K(1) NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGTGGATAAGATATTCTCCT 0.438000 10 290 0 0 0.000978 0 0 SLC8A1 6546 broad.mit.edu 37 2 40655707 40655707 + Missense_Mutation SNP C C A rs151189284 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:40655707C>A ENST00000406785.1 - 2 1903 c.1714G>T c.(1714-1716)Gtt>Ttt p.V572F SLC8A1_ENST00000405269.1_Missense_Mutation_p.V572F|SLC8A1_ENST00000542024.1_Missense_Mutation_p.V572F|SLC8A1_ENST00000403092.1_Missense_Mutation_p.V572F|SLC8A1_ENST00000405901.3_Missense_Mutation_p.V572F|SLC8A1_ENST00000402441.1_Missense_Mutation_p.V572F|SLC8A1_ENST00000408028.2_Missense_Mutation_p.V572F|SLC8A1_ENST00000332839.4_Missense_Mutation_p.V572F|SLC8A1_ENST00000542756.1_Missense_Mutation_p.V572F|SLC8A1_ENST00000406391.2_Missense_Mutation_p.V572F P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 572 Calx-beta 2. cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding p.V572F(1) NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TTATATGGAACGATAACATTT 0.438000 28 110 7.38237e-10 1.12947e-09 0.006320 1 0 PITX2 5308 broad.mit.edu 37 4 111554147 111554147 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:111554147G>T ENST00000354925.2 - 4 1713 c.8C>A c.(7-9)aCc>aAc p.T3N PITX2_ENST00000355080.5_Missense_Mutation_p.T3N|PITX2_ENST00000394598.2_Missense_Mutation_p.T3N|PITX2_ENST00000394595.3_Missense_Mutation_p.T3N NM_001204397.1 NP_001191326.1 Q99697 PITX2_HUMAN paired-like homeodomain 2 3 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding p.T3N(1) breast(1)|endometrium(3)|large_intestine(1)|lung(5) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) GCGGCAGTTGGTCTCCATTCC 0.592000 14 169 4.7546e-09 7.08496e-09 0.004007 1 0 PCNXL2 80003 broad.mit.edu 37 1 233296137 233296137 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:233296137C>A ENST00000258229.8 - 19 3643 c.3409G>T c.(3409-3411)Ggg>Tgg p.G1137W PCNXL2_ENST00000488780.2_Missense_Mutation_p.G270W|PCNXL2_ENST00000520463.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1137 integral to membrane p.G1137W(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GTTACAAACCCCACGGCTCCA 0.498000 16 60 0.00498961 0.00574792 0.004990 1 0 UGT2B4 7363 broad.mit.edu 37 4 70346427 70346427 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:70346427C>A ENST00000305107.6 - 6 1558 c.1512G>T c.(1510-1512)gtG>gtT p.V504V UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Silent_p.V368V|UGT2B4_ENST00000512583.1_3'UTR NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 504 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.V504V(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 TGATGAATATCACAGTTGCCA 0.488000 36 117 1.07637e-12 1.75863e-12 0.004878 1 0 P2RY1 5028 broad.mit.edu 37 3 152553901 152553901 + Nonsense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:152553901C>G ENST00000305097.3 + 1 1166 c.330C>G c.(328-330)taC>taG p.Y110* NM_002563.3 NP_002554.1 P47900 P2RY1_HUMAN purinergic receptor P2Y, G-protein coupled, 1 110 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.Y110*(1) breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) TGATCTTCTACTACTTCAATA 0.478000 20 82 0 0 0.001523 0 0 FAT4 79633 broad.mit.edu 37 4 126412741 126412741 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:126412741G>T ENST00000394329.3 + 17 14777 c.14764G>T c.(14764-14766)Ggg>Tgg p.G4922W FAT4_ENST00000335110.5_Missense_Mutation_p.G3163W NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4922 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G4865W(1)|p.G4922W(1) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CATGAAGCTAGGGCAGCAAGC 0.557000 11 59 5.16669e-11 8.14501e-11 0.000978 1 0 FSTL5 56884 broad.mit.edu 37 4 163032464 163032464 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:163032464C>A ENST00000306100.5 - 2 521 c.85G>T c.(85-87)Ggc>Tgc p.G29C FSTL5_ENST00000427802.2_Missense_Mutation_p.G29C|FSTL5_ENST00000379164.4_Missense_Mutation_p.G29C|FSTL5_ENST00000536695.1_Missense_Mutation_p.G29C NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 29 extracellular region calcium ion binding p.G29C(1) central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) GATTTAAGGCCATATCCTCCT 0.408000 15 85 4.7546e-09 7.08496e-09 0.004007 1 0 ADAM19 8728 broad.mit.edu 37 5 156964958 156964958 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:156964958G>A ENST00000257527.4 - 4 371 c.293C>T c.(292-294)tCa>tTa p.S98L ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000517905.1_Missense_Mutation_p.S98L|ADAM19_ENST00000394020.1_Missense_Mutation_p.S100L NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 98 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding p.S98L(1)|p.S99L(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTTACCACTTGAAGTATAATG 0.448000 8 134 0 0 0.006214 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55364081 55364081 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:55364081G>T ENST00000398661.2 - 7 780 c.649C>A c.(649-651)Ctg>Atg p.L217M HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.L187M|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.L155M|HMGCLL1_ENST00000370850.2_Intron NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 217 hydroxymethylglutaryl-CoA lyase activity|metal ion binding p.L217M(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) GGACAGCCCAGAGCACAAGAC 0.303000 34 102 2.87052e-16 5.04239e-16 0.005524 1 0 COL11A1 1301 broad.mit.edu 37 1 103428282 103428282 + Missense_Mutation SNP C C A rs147271219 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:103428282C>A ENST00000358392.2 - 39 3304 c.2987G>T c.(2986-2988)cGt>cTt p.R996L COL11A1_ENST00000353414.4_Missense_Mutation_p.R945L|COL11A1_ENST00000370096.3_Missense_Mutation_p.R984L|COL11A1_ENST00000512756.1_Missense_Mutation_p.R868L NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 984 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.R996L(1)|p.R984L(1) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AGGATGCCCACGTTCCCCTAT 0.453000 11 83 1.58986e-06 2.1318e-06 0.008291 1 0 TUBA3D 113457 broad.mit.edu 37 2 132238109 132238109 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:132238109C>A ENST00000321253.6 + 4 950 c.843C>A c.(841-843)gcC>gcA p.A281A NM_080386.3 NP_525125.2 Q13748 TBA3C_HUMAN tubulin, alpha 3d 281 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity p.A281A(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) CTGAGAAGGCCTACCACGAGC 0.577000 71 116 1.77791e-30 3.50099e-30 0.003610 1 0 SLC26A8 116369 broad.mit.edu 37 6 35960323 35960323 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:35960323C>T ENST00000490799.1 - 6 1109 c.756G>A c.(754-756)atG>atA p.M252I SLC26A8_ENST00000355574.2_Missense_Mutation_p.M252I|SLC26A8_ENST00000394602.2_Intron NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 252 cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 GGAAACTAATCATAATCCCAA 0.458000 4 96 0 0 0.000248 0 0 MUC16 94025 broad.mit.edu 37 19 9070836 9070836 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:9070836G>C ENST00000397910.4 - 3 16813 c.16610C>G c.(16609-16611)cCc>cGc p.P5537R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5539 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.P5537R(2)|p.P1170R(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGCTATTGTGGGCCGATCAAG 0.483000 5 127 0 0 0.000602 0 0 OR2AK2 391191 broad.mit.edu 37 1 248128744 248128744 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:248128744G>C ENST00000366480.3 + 1 210 c.111G>C c.(109-111)tgG>tgC p.W37C OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.W37C(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) AATATGGCTGGATAAACTCTC 0.413000 24 282 0 0 0.002299 0 0 SYT9 143425 broad.mit.edu 37 11 7441797 7441797 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:7441797C>A ENST00000318881.6 + 6 1635 c.1398C>A c.(1396-1398)ggC>ggA p.G466G NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 466 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.G466G(1) NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) AGAGGCTGGGCAGAGACCACT 0.483000 31 42 9.93527e-08 1.40721e-07 0.002836 1 0 LZTR1 8216 broad.mit.edu 37 22 21343120 21343120 + Silent SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:21343120T>C ENST00000215739.8 + 6 911 c.552T>C c.(550-552)agT>agC p.S184S LZTR1_ENST00000389355.3_Silent_p.S165S|LZTR1_ENST00000479606.1_3'UTR NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 184 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity p.S184S(1) breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CGGTGTACAGTGACAAGCTGT 0.652000 7 129 0 0 0.006214 0 0 COL9A1 1297 broad.mit.edu 37 6 70944628 70944628 + Nonsense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:70944628C>A ENST00000357250.6 - 34 2286 c.2128G>T c.(2128-2130)Gaa>Taa p.E710* COL9A1_ENST00000320755.7_Nonsense_Mutation_p.E467*|COL9A1_ENST00000370499.4_Nonsense_Mutation_p.E467*|COL9A1_ENST00000489611.1_5'UTR|RP1-149L1.1_ENST00000522264.1_RNA NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 710 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding p.E710*(1)|p.E467*(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 AAGCCAGGTTCCCCAGGATTA 0.527000 17 26 0.00074312 0.000881128 0.006122 1 0 ZIC4 84107 broad.mit.edu 37 3 147114196 147114196 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:147114196G>A ENST00000383075.3 - 3 643 c.131C>T c.(130-132)cCg>cTg p.P44L ZIC4_ENST00000525172.2_Missense_Mutation_p.P94L|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Missense_Mutation_p.P44L|ZIC4_ENST00000425731.3_Missense_Mutation_p.P82L|ZIC4_ENST00000484399.1_Missense_Mutation_p.P44L NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 44 nucleus DNA binding|zinc ion binding p.P44L(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 GTGGAGGCCCGGGAACACCGA 0.677000 6 29 0 0 0.001168 0 0 SRCAP 10847 broad.mit.edu 37 16 30748501 30748501 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:30748501G>T ENST00000262518.4 + 34 7525 c.7140G>T c.(7138-7140)cgG>cgT p.R2380R SRCAP_ENST00000395059.2_Silent_p.R2318R|SRCAP_ENST00000344771.4_Silent_p.R2222R NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2380 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity p.R2380L(1) NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GCACCCACCGGCGCAGTAAAA 0.647000 5 20 1.23904e-05 1.58704e-05 0.000602 1 0 FOCAD 54914 broad.mit.edu 37 9 20907241 20907241 + Splice_Site SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:20907241G>T ENST00000380249.1 + 24 3082 c.2718_splice c.e24+1 p.Q906_splice FOCAD_ENST00000338382.6_Splice_Site_p.Q906_splice|FOCAD_ENST00000605086.1_Splice_Site_p.Q342_splice NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 906 integral to membrane binding p.Q906H(1) CCATTTTACAGGTAATGAAAC 0.403000 59 184 4.13886e-29 8.06398e-29 0.003610 1 0 ACSM2A 123876 broad.mit.edu 37 16 20491921 20491921 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:20491921C>A ENST00000573854.1 + 11 1422 c.1308C>A c.(1306-1308)aaC>aaA p.N436K ACSM2A_ENST00000417235.2_Missense_Mutation_p.N357K|ACSM2A_ENST00000396104.2_Missense_Mutation_p.N436K|ACSM2A_ENST00000575690.1_Missense_Mutation_p.N436K|ACSM2A_ENST00000536134.1_Missense_Mutation_p.N208K|ACSM2A_ENST00000219054.6_Missense_Mutation_p.N436K|ACSM2A_ENST00000575558.1_3'UTR NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 436 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding p.N436K(1) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 CAGCAGCCAACATTCGAGGAG 0.502000 6 168 0.000157383 0.000191818 0.003080 1 0 OR8J1 219477 broad.mit.edu 37 11 56127775 56127775 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:56127775C>T ENST00000303039.3 + 1 85 c.53C>T c.(52-54)tCt>tTt p.S18F NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S18F(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) ACAGGTGTCTCTAGCTGTCCA 0.478000 33 142 0 0 0.005524 0 0 TYRP1 7306 broad.mit.edu 37 9 12704606 12704606 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:12704606G>T ENST00000388918.5 + 6 1291 c.1162G>T c.(1162-1164)Ggg>Tgg p.G388W TYRP1_ENST00000381136.2_Missense_Mutation_p.G98W|TYRP1_ENST00000381137.2_Missense_Mutation_p.G97W|RP11-3L8.3_ENST00000417638.1_RNA NM_000550.2 NP_000541.1 P17643 TYRP1_HUMAN tyrosinase-related protein 1 388 melanin biosynthetic process clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity p.G388W(1) NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1) 22 all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744) GBM - Glioblastoma multiforme(50;9.85e-06) GAATGGAACAGGGGGACAAAC 0.468000 Oculocutaneous Albinism 38 93 6.19805e-25 1.1772e-24 0.005524 1 0 CRTC3 64784 broad.mit.edu 37 15 91172586 91172586 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr15:91172586C>T ENST00000420329.2 + 11 1235 c.1088C>T c.(1087-1089)tCg>tTg p.S363L RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000268184.6_Missense_Mutation_p.S363L NM_001042574.2|NM_022769.4 NP_001036039.1|NP_073606.3 Q6UUV7 CRTC3_HUMAN CREB regulated transcription coactivator 3 363 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus p.S363L(2) CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) CTTCACCCTTCGCTCCGTCTG 0.552000 T MAML2 salivary gland mucoepidermoid 21 285 0 0 0.002299 0 0 TMEM132E 124842 broad.mit.edu 37 17 32956077 32956077 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:32956077G>A ENST00000321639.5 + 5 1250 c.922G>A c.(922-924)Gag>Aag p.E308K NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 308 integral to membrane p.E308K(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) CTTTGAAATGGAGAACTTCAC 0.622000 33 121 0 0 0.002096 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49284854 49284854 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr15:49284854C>T ENST00000559471.1 - 18 3156 c.2893G>A c.(2893-2895)Gat>Aat p.D965N SECISBP2L_ENST00000261847.3_Missense_Mutation_p.D920N NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 965 p.D920N(1) breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 CAACTGCCATCCAAAGAGCCA 0.493000 42 51 0 0 0.006999 0 0 C7orf62 219557 broad.mit.edu 37 7 88423497 88423497 + Nonstop_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:88423497A>T ENST00000297203.2 - 2 945 c.760T>A c.(760-762)Tag>Aag p.*254K ZNF804B_ENST00000333190.4_Intron NM_152706.3 NP_689919.1 Q8TBZ9 CG062_HUMAN chromosome 7 open reading frame 62 0 p.*254K(1) NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 30 TCTCAATCCTAGAAACGTGAA 0.378000 11 29 0 0 0.008291 0 0 PRDM15 63977 broad.mit.edu 37 21 43223078 43223078 + Nonsense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr21:43223078C>A ENST00000422911.1 - 24 3009 c.2908G>T c.(2908-2910)Gag>Tag p.E970* PRDM15_ENST00000269844.3_Nonsense_Mutation_p.E1279*|PRDM15_ENST00000447207.2_Nonsense_Mutation_p.E913*|PRDM15_ENST00000538201.1_Nonsense_Mutation_p.E933*|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Nonsense_Mutation_p.E950* P57071 PRD15_HUMAN PR domain containing 15 1279 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E1279*(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 AGAGTCAGCTCAGGCTGCAGA 0.592000 19 152 9.7654e-05 0.000120256 0.007413 1 0 ALK 238 broad.mit.edu 37 2 29446262 29446262 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:29446262G>A ENST00000389048.3 - 20 4211 c.3305C>T c.(3304-3306)aCc>aTc p.T1102I ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 1102 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.T1102I(1) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GATGGAGGAGGTCTTGCCAGC 0.587000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 9 48 0 0 0.006214 0 0 NLGN1 22871 broad.mit.edu 37 3 173322611 173322611 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:173322611G>T ENST00000457714.1 + 3 652 c.223G>T c.(223-225)Ggg>Tgg p.G75W NLGN1_ENST00000545397.1_Missense_Mutation_p.G75W|NLGN1_ENST00000401917.3_Missense_Mutation_p.G75W|NLGN1_ENST00000361589.4_Missense_Mutation_p.G75W NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 75 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity p.G75W(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) TGAAATTTTGGGGCCTGTTAT 0.458000 36 136 1.06647e-15 1.85571e-15 0.003755 1 0 ZW10 9183 broad.mit.edu 37 11 113608401 113608401 + Nonsense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:113608401C>A ENST00000200135.3 - 14 2053 c.1909G>T c.(1909-1911)Gga>Tga p.G637* NM_004724.3 NP_004715.1 O43264 ZW10_HUMAN zw10 kinetochore protein 637 cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding p.G637*(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 18 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) CACACAATTCCAAGTCTCTTT 0.383000 29 119 1.16021e-09 1.76046e-09 0.007291 1 0 PDE8B 8622 broad.mit.edu 37 5 76721722 76721722 + Splice_Site SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:76721722G>T ENST00000264917.5 + 21 2593 c.e21+1 PDE8B_ENST00000505283.1_Splice_Site|PDE8B_ENST00000333194.4_Splice_Site|PDE8B_ENST00000342343.4_Splice_Site|PDE8B_ENST00000340978.3_Splice_Site|PDE8B_ENST00000346042.3_Splice_Site NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity p.?(1) GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) GCTTGGGATGGTAAGACAGTT 0.378000 5 44 5.9392e-07 8.08784e-07 0.001168 1 0 PLOD2 5352 broad.mit.edu 37 3 145809634 145809634 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:145809634C>A ENST00000282903.5 - 8 1009 c.832G>T c.(832-834)Ggc>Tgc p.G278C PLOD2_ENST00000360060.3_Missense_Mutation_p.G278C|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Missense_Mutation_p.G223C NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 278 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding p.G278C(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) AGAGTGCAGCCATTATCCTGT 0.363000 9 40 0.000978159 0.00115569 0.000978 1 0 FSIP2 401024 broad.mit.edu 37 2 186670606 186670606 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:186670606G>T ENST00000343098.5 + 17 16840 c.16840G>T c.(16840-16842)Gtg>Ttg p.V5614L FSIP2_ENST00000424728.1_Missense_Mutation_p.V5525L NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 p.V223L(2) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TGAAAATAAAGTGGGAATTTG 0.348000 28 84 3.65163e-15 6.32086e-15 0.006320 1 0 NMNAT1 64802 broad.mit.edu 37 1 10035810 10035810 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:10035810G>T ENST00000377205.1 + 3 420 c.276G>T c.(274-276)tgG>tgT p.W92C NMNAT1_ENST00000403197.1_Missense_Mutation_p.W92C NM_022787.3 NP_073624.2 Q9HAN9 NMNA1_HUMAN nicotinamide nucleotide adenylyltransferase 1 92 water-soluble vitamin metabolic process nucleoplasm ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding p.W92C(1) large_intestine(2)|lung(2)|stomach(1) 5 all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419) AGAAGGAGTGGAAAGAGACTC 0.413000 18 89 5.26018e-13 8.66259e-13 0.001882 1 0 NLRP3 114548 broad.mit.edu 37 1 247587489 247587489 + Silent SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:247587489C>G ENST00000366497.2 + 4 1524 c.744C>G c.(742-744)ctC>ctG p.L248L NLRP3_ENST00000336119.3_Silent_p.L248L|NLRP3_ENST00000391828.3_Silent_p.L248L|NLRP3_ENST00000391827.2_Silent_p.L248L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Silent_p.L248L|NLRP3_ENST00000348069.2_Silent_p.L248L NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 248 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CGGGGACACTCTACCAAGACA 0.567000 4 79 0 0 0.001168 0 0 NCALD 83988 broad.mit.edu 37 8 102705114 102705114 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:102705114T>C ENST00000395923.1 - 5 848 c.389A>G c.(388-390)aAg>aGg p.K130R NCALD_ENST00000521599.1_Missense_Mutation_p.K130R|NCALD_ENST00000220931.6_Missense_Mutation_p.K130R|NCALD_ENST00000311028.3_Missense_Mutation_p.K130R|NCALD_ENST00000522951.1_Missense_Mutation_p.K130R|NCALD_ENST00000519508.2_Missense_Mutation_p.K130R NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1 NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1 P61601 NCALD_HUMAN neurocalcin delta 130 EF-hand 3. synaptic transmission|vesicle-mediated transport clathrin coat of trans-Golgi network vesicle|cytosol actin binding|calcium ion binding|clathrin binding|tubulin binding p.K130R(1) endometrium(1)|large_intestine(2)|lung(4)|prostate(1) 8 all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05) all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699) GGAAACCATCTTATAGATTGC 0.453000 17 61 0 0 0.006122 0 0 RAB2A 5862 broad.mit.edu 37 8 61484660 61484660 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:61484660G>T ENST00000262646.7 + 3 525 c.174G>T c.(172-174)caG>caT p.Q58H RAB2A_ENST00000531289.1_Missense_Mutation_p.Q34H|RAB2A_ENST00000529579.1_Missense_Mutation_p.Q58H NM_002865.2 NP_002856.1 P61019 RAB2A_HUMAN RAB2A, member RAS oncogene family 58 ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome GDP binding|GTP binding|GTPase activity p.Q58H(2) endometrium(1)|large_intestine(1)|lung(4) 6 BRCA - Breast invasive adenocarcinoma(89;0.0805) TAAAACTTCAGATATGGGATA 0.318000 11 19 9.31168e-06 1.20667e-05 0.001855 1 0 SGPP1 81537 broad.mit.edu 37 14 64152941 64152941 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:64152941C>T ENST00000247225.6 - 3 1302 c.1208G>A c.(1207-1209)cGa>cAa p.R403Q NM_030791.2 NP_110418.1 Q9BX95 SGPP1_HUMAN sphingosine-1-phosphate phosphatase 1 403 endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity p.R403Q(2) central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 10 OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103) TCTTGCTTTTCGAATATCATC 0.348000 6 103 0 0 0.001168 0 0 KIAA1407 57577 broad.mit.edu 37 3 113737532 113737532 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:113737532C>G ENST00000295878.3 - 8 1302 c.1156G>C c.(1156-1158)Gaa>Caa p.E386Q KIAA1407_ENST00000545063.1_Missense_Mutation_p.E217Q NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 386 p.E386Q(1) endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 TACCTGTTTTCTTCCCTAAGA 0.413000 18 241 0 0 0.008871 0 0 STOX2 56977 broad.mit.edu 37 4 184930348 184930348 + Silent SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:184930348G>C ENST00000308497.4 + 3 1792 c.357G>C c.(355-357)acG>acC p.T119T STOX2_ENST00000438269.1_Silent_p.T119T NM_020225.1 NP_064610.1 Q9P2F5 STOX2_HUMAN storkhead box 2 119 embryo development|maternal placenta development p.T119T(1)|p.T143T(1) breast(1)|endometrium(7)|lung(6) 14 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) TGCGGCACACGCTGAACACGC 0.438000 4 19 0 0 0.000248 0 0 VEZT 55591 broad.mit.edu 37 12 95660204 95660204 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:95660204G>T ENST00000436874.1 + 5 611 c.506G>T c.(505-507)tGg>tTg p.W169L VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.W121L NM_017599.3 NP_060069.3 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane protein 169 W -> R (in Ref. 2; AAG38485). acrosomal vesicle|adherens junction|integral to membrane|nucleus p.W169F(2) endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 GTGTCTTCCTGGCTGGTATGG 0.418000 172 233 5.2239e-99 1.05752e-98 0.003610 1 0 TPO 7173 broad.mit.edu 37 2 1459997 1459997 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:1459997G>T ENST00000345913.4 + 7 853 c.762G>T c.(760-762)ggG>ggT p.G254G TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Silent_p.G254G|TPO_ENST00000382198.1_Silent_p.G254G|TPO_ENST00000382201.3_Silent_p.G254G|TPO_ENST00000346956.3_Silent_p.G254G|TPO_ENST00000329066.4_Silent_p.G254G|TPO_ENST00000349624.3_Silent_p.G254G NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 254 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity p.G254G(1) breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CTGCCTTCGGGGGAGGGGCTG 0.473000 5 30 1.23904e-05 1.58704e-05 0.000602 1 0 CREB3L2 64764 broad.mit.edu 37 7 137590467 137590467 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:137590467C>A ENST00000330387.6 - 6 1247 c.896G>T c.(895-897)cGg>cTg p.R299L CREB3L2_ENST00000456390.1_Missense_Mutation_p.R299L NM_194071.3 NP_919047.2 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 2 299 chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R299L(1) FUS/CREB3L2(158) breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 GATCTTCCTCCGAATTTTCTT 0.517000 T FUS fibromyxoid sarcoma 13 268 5.50884e-06 7.17792e-06 0.001368 1 0 TMEM169 92691 broad.mit.edu 37 2 216964784 216964784 + Nonsense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:216964784C>A ENST00000454545.1 + 4 739 c.413C>A c.(412-414)tCa>tAa p.S138* TMEM169_ENST00000406027.2_Nonsense_Mutation_p.S138*|TMEM169_ENST00000437356.2_Nonsense_Mutation_p.S138*|TMEM169_ENST00000295658.4_Nonsense_Mutation_p.S138* NM_001142310.1 NP_001135782.1 Q96HH4 TM169_HUMAN transmembrane protein 169 138 integral to membrane breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2) 13 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTAAAGAGTCATCAAGGGAA 0.542000 5 87 1.23904e-05 1.58704e-05 0.000602 1 0 PES1 23481 broad.mit.edu 37 22 30974931 30974931 + Nonsense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:30974931G>A ENST00000402281.1 - 16 2150 c.1159C>T c.(1159-1161)Cag>Tag p.Q387* PES1_ENST00000335214.6_Nonsense_Mutation_p.Q521*|PES1_ENST00000354694.6_Nonsense_Mutation_p.Q526*|PES1_ENST00000402284.3_Nonsense_Mutation_p.Q509*|PES1_ENST00000405677.1_Nonsense_Mutation_p.Q387* O00541 PESC_HUMAN pescadillo ribosomal biogenesis factor 1 526 BRCT.|Sufficient for interaction with MAP1B (By similarity). cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding p.Q526*(1) breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 29 TCCTCCTCCTGGGCCAGCCGC 0.567000 5 50 0 0 0.001984 0 0 PTPRD 5789 broad.mit.edu 37 9 8518099 8518099 + Nonsense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:8518099G>T ENST00000381196.4 - 18 1835 c.1292C>A c.(1291-1293)tCg>tAg p.S431* PTPRD_ENST00000397617.3_Nonsense_Mutation_p.S421*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.S418*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.S428*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.S431*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.S421*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.S431*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.S431*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.S418*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.S428*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.S431* NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 431 Fibronectin type-III 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.S431*(4) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AATGGTGGTCGAACTCAACAT 0.502000 TSP Lung(15;0.13) 8 203 0.000157383 0.000191818 0.003080 1 0 C1orf173 127254 broad.mit.edu 37 1 75038549 75038549 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:75038549C>A ENST00000326665.5 - 14 3063 c.2845G>T c.(2845-2847)Gca>Tca p.A949S C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 949 Glu-rich. p.A949S(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCTATGGATGCTTCCTCTTCA 0.552000 21 142 1.55795e-14 2.66069e-14 0.001882 1 0 WDR78 79819 broad.mit.edu 37 1 67292659 67292659 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:67292659C>A ENST00000371026.3 - 15 2238 c.2183G>T c.(2182-2184)gGt>gTt p.G728V RP11-342H21.2_ENST00000456389.1_RNA|WDR78_ENST00000431318.1_Missense_Mutation_p.G441V NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 728 p.G728V(1) NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 TATAATAACACCCCAATCTGC 0.358000 21 146 1.55469e-16 2.74261e-16 0.003330 1 0 EPHA3 2042 broad.mit.edu 37 3 89259220 89259220 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:89259220C>A ENST00000336596.2 + 3 589 c.364C>A c.(364-366)Ctg>Atg p.L122M EPHA3_ENST00000452448.2_Missense_Mutation_p.L122M|EPHA3_ENST00000494014.1_Missense_Mutation_p.L122M NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 122 extracellular region|integral to plasma membrane ATP binding p.L122M(2) NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GACATTCAACCTGTACTACAT 0.413000 TSP Lung(6;0.00050) 13 127 4.36969e-10 6.72884e-10 0.001855 1 0 PAPOLG 64895 broad.mit.edu 37 2 61010339 61010339 + Silent SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:61010339A>G ENST00000238714.3 + 13 1410 c.1161A>G c.(1159-1161)ctA>ctG p.L387L NM_022894.3 NP_075045.2 Q9BWT3 PAPOG_HUMAN poly(A) polymerase gamma 387 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding p.L387L(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 35 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) AAAACCATCTAGAGTGGTAAG 0.333000 19 68 0 0 0.001882 0 0 CPA1 1357 broad.mit.edu 37 7 130025014 130025014 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:130025014C>T ENST00000011292.3 + 8 965 c.815C>T c.(814-816)tCg>tTg p.S272L CPA1_ENST00000484324.1_Missense_Mutation_p.S184L NM_001868.2 NP_001859.1 P15085 CBPA1_HUMAN carboxypeptidase A1 (pancreatic) 272 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding p.S272L(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) AACCCCTGCTCGGAGACTTAC 0.547000 4 66 0 0 0.000602 0 0 IL12RB1 3594 broad.mit.edu 37 19 18170764 18170764 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:18170764G>A ENST00000600835.1 - 17 2226 c.1923C>T c.(1921-1923)gcC>gcT p.A641A IL12RB1_ENST00000430026.2_Silent_p.A641A|IL12RB1_ENST00000593993.1_Silent_p.A641A P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 641 cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity p.A641A(1) endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 CCAGCTCAGGGGCACCCTCAG 0.622000 4 6 0 0 0.000248 0 0 ANLN 54443 broad.mit.edu 37 7 36446030 36446030 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:36446030G>C ENST00000265748.2 + 4 949 c.728G>C c.(727-729)gGa>gCa p.G243A ANLN_ENST00000396068.2_Missense_Mutation_p.G243A NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 243 Interaction with F-actin. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding p.G243A(1) breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 TCTGCAAGTGGAGCATCTGCT 0.438000 48 113 0 0 0.003214 0 0 MUC16 94025 broad.mit.edu 37 19 9075173 9075173 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:9075173C>G ENST00000397910.4 - 3 12476 c.12273G>C c.(12271-12273)atG>atC p.M4091I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4093 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.M4091I(4) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAGCAAGGATCATTCCTCCAG 0.527000 21 48 0 0 0.001882 0 0 ZNF648 127665 broad.mit.edu 37 1 182026091 182026091 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:182026091T>A ENST00000339948.3 - 2 1262 c.1055A>T c.(1054-1056)aAa>aTa p.K352I NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 352 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K352I(1) breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 GCGCTGGTGTTTGCGCAGGTC 0.637000 6 27 0 0 0.001984 0 0 GALNT2 2590 broad.mit.edu 37 1 230415090 230415090 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:230415090G>T ENST00000366672.4 + 16 1674 c.1602G>T c.(1600-1602)gtG>gtT p.V534V GALNT2_ENST00000543760.1_Silent_p.V496V|GALNT2_ENST00000485438.1_3'UTR NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 534 Ricin B-type lectin. immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.V534V(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) TGAGGCACGTGGGCAGCAACC 0.587000 24 58 0.000295444 0.000356163 0.002299 1 0 GPR65 8477 broad.mit.edu 37 14 88477441 88477441 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:88477441C>T ENST00000267549.3 + 2 808 c.250C>T c.(250-252)Cct>Tct p.P84S RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 84 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity p.P84S(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 GACTTTCTCTCCTGCCTTGTG 0.403000 61 119 0 0 0.003610 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65811101 65811101 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:65811101G>T ENST00000312006.4 - 3 454 c.173C>A c.(172-174)cCg>cAg p.P58Q GAL3ST3_ENST00000527878.1_Missense_Mutation_p.P58Q NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 58 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity p.P58Q(1) kidney(1)|lung(9)|ovary(2)|skin(2) 14 GGGGCGCGGCGGCGAGTTCCG 0.647000 10 24 5.50884e-06 7.17792e-06 0.001368 1 0 KLHL4 56062 broad.mit.edu 37 X 86773015 86773015 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:86773015G>T ENST00000373119.4 + 1 264 c.119G>T c.(118-120)gGa>gTa p.G40V KLHL4_ENST00000373114.4_Missense_Mutation_p.G40V NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 40 cytoplasm|microtubule cytoskeleton|nucleolus actin binding p.G40V(2) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 CAGCAGGAAGGATATGAGCAT 0.488000 22 47 1.96292e-10 3.05098e-10 0.001523 1 0 MUC17 140453 broad.mit.edu 37 7 100683456 100683456 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:100683456T>A ENST00000306151.4 + 3 8823 c.8759T>A c.(8758-8760)aTc>aAc p.I2920N NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2920 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.I2920N(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AGCATGCCAATCTCAACTCCT 0.478000 29 524 0 0 0.006320 0 0 TMBIM6 7009 broad.mit.edu 37 12 50152023 50152023 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:50152023C>T ENST00000423828.1 + 5 802 c.474C>T c.(472-474)ggC>ggT p.G158G TMBIM6_ENST00000552699.1_Silent_p.G158G|TMBIM6_ENST00000547798.1_Silent_p.G63G|TMBIM6_ENST00000395006.4_Silent_p.G100G|TMBIM6_ENST00000267115.5_Silent_p.G100G|TMBIM6_ENST00000549385.1_Silent_p.G100G NM_001098576.1 NP_001092046.1 P55061 BI1_HUMAN transmembrane BAX inhibitor motif containing 6 100 apoptosis|negative regulation of apoptosis endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus p.G100G(1)|p.G158G(1) lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 6 TTGGCCTGGGCCCTGCCCTGG 0.413000 81 142 0 0 0.003610 0 0 ACTN4 81 broad.mit.edu 37 19 39214592 39214592 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:39214592C>T ENST00000252699.2 + 14 1643 c.1567C>T c.(1567-1569)Ctg>Ttg p.L523L ACTN4_ENST00000424234.2_Silent_p.L133L|ACTN4_ENST00000390009.3_Silent_p.L304L NM_004924.4 NP_004915.2 O43707 ACTN4_HUMAN actinin, alpha 4 523 platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity p.L523L(1) NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3) 30 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) AGAGAAGCAGCTGGAGGCCAT 0.617000 20 23 0 0 0.008871 0 0 NUCKS1 64710 broad.mit.edu 37 1 205688745 205688745 + Missense_Mutation SNP T T G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:205688745T>G ENST00000367142.4 - 6 744 c.442A>C c.(442-444)Agt>Cgt p.S148R NUCKS1_ENST00000464938.1_5'UTR NM_022731.4 NP_073568.2 Q9H1E3 NUCKS_HUMAN nuclear casein kinase and cyclin-dependent kinase substrate 1 148 nucleus p.S148R(1) endometrium(4)|large_intestine(1)|lung(9) 14 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) TTTTTCGAACTGCCATAGTCA 0.363000 43 61 0 0 0.003214 0 0 SERPINA11 256394 broad.mit.edu 37 14 94914523 94914523 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:94914523G>T ENST00000334708.3 - 2 653 c.589C>A c.(589-591)Ccg>Acg p.P197T RP11-349I1.2_ENST00000536735.1_RNA NM_001080451.1 NP_001073920.1 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 197 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.P379T(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) CTGAACTCCGGGAGGCAGTCC 0.458000 56 101 2.73381e-35 5.43488e-35 0.003610 1 0 BOD1L1 259282 broad.mit.edu 37 4 13610219 13610219 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:13610219G>A ENST00000040738.5 - 8 1812 c.1677C>T c.(1675-1677)gtC>gtT p.V559V NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 559 Lys-rich. DNA binding p.V559V(1) GTTCTTTAAGGACTTCTTTAA 0.338000 3 12 0 0 0.004672 0 0 XIRP1 165904 broad.mit.edu 37 3 39226647 39226647 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:39226647G>T ENST00000340369.3 - 2 4518 c.4290C>A c.(4288-4290)gcC>gcA p.A1430A XIRP1_ENST00000421646.1_Silent_p.A113A|XIRP1_ENST00000396251.1_3'UTR NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1430 actin binding p.A1430E(1) breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CATGGTTGAGGGCATTGAGCT 0.642000 7 100 1.06961e-07 1.50599e-07 0.003080 1 0 ERMN 57471 broad.mit.edu 37 2 158178131 158178131 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:158178131G>A ENST00000410096.1 - 3 798 c.507C>T c.(505-507)gaC>gaT p.D169D ERMN_ENST00000420719.2_Silent_p.D149D|ERMN_ENST00000535935.1_Silent_p.D63D|ERMN_ENST00000397283.2_Silent_p.D182D NM_020711.1 NP_065762.1 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein 169 cytoplasm|cytoskeleton p.D182D(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 AATGTAACATGTCAGCTTGGC 0.413000 50 121 0 0 0.003610 0 0 GRIA1 2890 broad.mit.edu 37 5 153077700 153077700 + Missense_Mutation SNP G G T rs147418341 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:153077700G>T ENST00000285900.5 + 9 1574 c.1231G>T c.(1231-1233)Gtc>Ttc p.V411F GRIA1_ENST00000518142.1_Missense_Mutation_p.V331F|GRIA1_ENST00000521843.2_Missense_Mutation_p.V342F|GRIA1_ENST00000518783.1_Missense_Mutation_p.V421F|GRIA1_ENST00000448073.4_Missense_Mutation_p.V421F|GRIA1_ENST00000340592.5_Missense_Mutation_p.V411F NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 411 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding p.V411F(2) NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AACATACATCGTCACAACAAT 0.473000 11 21 3.07112e-06 4.04287e-06 0.000978 1 0 MACF1 23499 broad.mit.edu 37 1 39826501 39826501 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:39826501G>T ENST00000564288.1 + 48 13058 c.12281G>T c.(12280-12282)aGc>aTc p.S4094I MACF1_ENST00000372915.3_Missense_Mutation_p.S4099I|MACF1_ENST00000539005.1_Missense_Mutation_p.S2032I|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.S2032I|MACF1_ENST00000545844.1_Missense_Mutation_p.S2032I|MACF1_ENST00000317713.7_Missense_Mutation_p.S2032I|MACF1_ENST00000289893.4_Missense_Mutation_p.S2534I|MACF1_ENST00000567887.1_Missense_Mutation_p.S4131I Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 4099 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding p.S2534I(1)|p.S2032I(1) breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTCTCCTATAGCCTGGCTGAG 0.443000 8 42 5.18039e-06 6.77656e-06 0.003080 1 0 LARP6 55323 broad.mit.edu 37 15 71124586 71124586 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr15:71124586G>T ENST00000299213.8 - 3 1351 c.1281C>A c.(1279-1281)ccC>ccA p.P427P NM_018357.2 NP_060827.2 Q9BRS8 LARP6_HUMAN La ribonucleoprotein domain family, member 6 427 RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex nucleotide binding|RNA binding p.P427P(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 19 GGCTGCCAGAGGGAGTGACGC 0.612000 20 66 3.51602e-12 5.68868e-12 0.008871 1 0 SPAG6 9576 broad.mit.edu 37 10 22680766 22680766 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:22680766C>A ENST00000376603.2 + 8 1484 c.1342C>A c.(1342-1344)Cgg>Agg p.R448R SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000313311.6_Silent_p.R372R|SPAG6_ENST00000376601.1_Silent_p.R133R|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Silent_p.R347R|SPAG6_ENST00000376624.3_Silent_p.R372R O75602 SPAG6_HUMAN sperm associated antigen 6 372 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding p.R372R(1) breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2) 27 TGAACACGCACGGGCTGTTGC 0.453000 22 68 8.10497e-08 1.14895e-07 0.001523 1 0 NPSR1 387129 broad.mit.edu 37 7 34889208 34889208 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:34889208T>A ENST00000360581.1 + 9 1185 c.1057T>A c.(1057-1059)Ttc>Atc p.F353I NPSR1_ENST00000381539.3_Missense_Mutation_p.V386D|NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000381542.1_Missense_Mutation_p.F287I|NPSR1_ENST00000531252.1_Intron NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 353 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity p.F353I(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) CAGAATGACGTTCCGGGAGAG 0.468000 67 116 0 0 0.003610 0 0 LHCGR 3973 broad.mit.edu 37 2 48925784 48925784 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:48925784C>A ENST00000294954.7 - 9 857 c.836G>T c.(835-837)tGc>tTc p.C279F LHCGR_ENST00000405626.1_Missense_Mutation_p.C279F|LHCGR_ENST00000401907.1_Missense_Mutation_p.C279F|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Missense_Mutation_p.C279F|LHCGR_ENST00000344775.3_Intron NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 279 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity p.C279F(1) NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) AAAAGCACAGCAGTGGCTGGG 0.413000 9 67 1.12685e-05 1.45231e-05 0.004482 1 0 COL7A1 1294 broad.mit.edu 37 3 48605544 48605544 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:48605544G>C ENST00000328333.8 - 105 7961 c.7854C>G c.(7852-7854)ttC>ttG p.F2618L COL7A1_ENST00000454817.1_Missense_Mutation_p.F2586L NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2618 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity p.F2618L(1) NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGGGACCCATGAAGCCAACAT 0.532000 10 97 0 0 0.006214 0 0 CDH4 1002 broad.mit.edu 37 20 60348144 60348144 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:60348144C>G ENST00000360469.5 + 4 570 c.482C>G c.(481-483)gCc>gGc p.A161G CDH4_ENST00000543233.1_Missense_Mutation_p.A87G NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 161 adherens junction organization|cell junction assembly calcium ion binding p.A161G(1) NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CACCAGAACGCCAACGGGCTG 0.652000 5 29 0 0 0.001168 0 0 ENHO 375704 broad.mit.edu 37 9 34521483 34521483 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:34521483T>C ENST00000399775.2 - 2 636 c.211A>G c.(211-213)Agc>Ggc p.S71G NM_198573.2 NP_940975.2 Q6UWT2 ENHO_HUMAN energy homeostasis associated 71 extracellular region p.S71G(1) endometrium(1)|lung(1) 2 AGCAGGTAGCTGCCTTCATGG 0.617000 21 77 0 0 0.003954 0 0 ADH1C 126 broad.mit.edu 37 4 100264205 100264205 + RNA SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:100264205G>A ENST00000515683.1 - 0 926 ADH1C_ENST00000510055.1_RNA NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) GGTAGACCCTGGGGTGACCTA 0.428000 44 210 0 0 0.007835 0 0 SPTA1 6708 broad.mit.edu 37 1 158647625 158647625 + Splice_Site SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:158647625C>A ENST00000368148.3 - 7 993 c.e7-1 SPTA1_ENST00000368147.3_Splice_Site NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.?(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AGTCACATCCCTGCAGTCATT 0.493000 37 81 9.14704e-12 1.46565e-11 0.008740 1 0 THBS2 7058 broad.mit.edu 37 6 169629714 169629714 + Missense_Mutation SNP C C T rs61736310 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:169629714C>T ENST00000366787.3 - 15 2461 c.2212G>A c.(2212-2214)Gat>Aat p.D738N XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 738 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity p.D738N(1) NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) TCACAGGCATCGCCAATCCCG 0.527000 15 151 0 0 0.006122 0 0 CAP2 10486 broad.mit.edu 37 6 17421832 17421832 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:17421832A>G ENST00000229922.2 + 2 578 c.46A>G c.(46-48)Agc>Ggc p.S16G CAP2_ENST00000493172.1_Missense_Mutation_p.S16G|CAP2_ENST00000489374.1_Missense_Mutation_p.S16G|CAP2_ENST00000465994.1_Missense_Mutation_p.S16G|CAP2_ENST00000378990.2_Missense_Mutation_p.S16G NM_006366.2 NP_006357.1 P40123 CAP2_HUMAN CAP, adenylate cyclase-associated protein, 2 (yeast) 16 activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding p.S16G(1) breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1) 27 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) ACGAGCTGTCAGCCGCCTGGA 0.557000 14 123 0 0 0.001855 0 0 CER1 9350 broad.mit.edu 37 9 14720334 14720334 + Nonsense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:14720334G>T ENST00000380911.3 - 2 602 c.558C>A c.(556-558)tgC>tgA p.C186* NM_005454.2 NP_005445.1 O95813 CER1_HUMAN cerberus 1, DAN family BMP antagonist 186 CTCK. BMP signaling pathway extracellular space cytokine activity p.C186*(1) endometrium(2)|large_intestine(3)|lung(6) 11 GBM - Glioblastoma multiforme(50;3.16e-06) ATTTCCCAAAGCAAAGGTTGT 0.438000 11 58 1.08611e-07 1.52147e-07 0.000978 1 0 PRUNE2 158471 broad.mit.edu 37 9 79325636 79325636 + Silent SNP T T G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:79325636T>G ENST00000428286.1 - 8 1677 c.477A>C c.(475-477)gcA>gcC p.A159A PRUNE2_ENST00000376718.3_Silent_p.A518A Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 518 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity p.A518A(1) endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AGAAGTCATCTGCTGGGGAGT 0.522000 10 25 0 0 0.008291 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28337778 28337778 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr21:28337778G>C ENST00000284987.5 - 1 1054 c.933C>G c.(931-933)atC>atG p.I311M NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 311 Peptidase M12B. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding p.I311M(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 CGGCCAGGCGGATGTGGTTCT 0.592000 18 75 0 0 0.007413 0 0 GATA3 2625 broad.mit.edu 37 10 8100776 8100776 + Silent SNP G G A rs28395792 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:8100776G>A ENST00000379328.3 + 3 1318 c.750G>A c.(748-750)aaG>aaA p.K250K GATA3_ENST00000346208.3_Silent_p.K250K|GATA3_ENST00000461472.1_3'UTR NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 250 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding p.K250K(1) NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 TCGGATGCAAGTCCAGGCCCA 0.667000 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 15 38 0 0 0.007413 0 0 BTD 686 broad.mit.edu 37 3 15686657 15686657 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:15686657A>G ENST00000383778.4 + 4 1592 c.1234A>G c.(1234-1236)Acc>Gcc p.T412A BTD_ENST00000303498.5_Missense_Mutation_p.T432A|BTD_ENST00000437172.1_Missense_Mutation_p.T434A|BTD_ENST00000449107.1_Missense_Mutation_p.T434A P43251 BTD_HUMAN biotinidase 432 central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity p.T432A(1) breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 18 CGAGAGGCCCACCTTATCCAA 0.517000 13 118 0 0 0.002450 0 0 FRS2 10818 broad.mit.edu 37 12 69968531 69968531 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:69968531G>T ENST00000299293.2 + 10 1833 c.1323G>T c.(1321-1323)ttG>ttT p.L441F FRS2_ENST00000549921.1_Missense_Mutation_p.L441F|FRS2_ENST00000550389.1_Missense_Mutation_p.L441F|FRS2_ENST00000397997.2_Missense_Mutation_p.L441F NM_001278351.1|NM_006654.3 NP_001265280.1|NP_006645.3 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 441 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity p.L441F(2) autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) AGGTTGACTTGGAAGGTGGCA 0.483000 21 41 3.08376e-08 4.44748e-08 0.003330 1 0 SLC12A3 6559 broad.mit.edu 37 16 56936384 56936384 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:56936384G>C ENST00000438926.2 + 24 2876 c.2847G>C c.(2845-2847)aaG>aaC p.K949N SLC12A3_ENST00000563236.1_Missense_Mutation_p.K940N|SLC12A3_ENST00000566786.1_Missense_Mutation_p.K948N|SLC12A3_ENST00000262502.5_Missense_Mutation_p.K939N NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 940 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity p.K949N(1) breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) GCCCCTGGAAGATCTCAGATG 0.562000 15 44 0 0 0.003163 0 0 SMARCA2 6595 broad.mit.edu 37 9 2110342 2110342 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:2110342A>T ENST00000382203.1 + 24 3590 c.3381A>T c.(3379-3381)agA>agT p.R1127S SMARCA2_ENST00000357248.2_Missense_Mutation_p.R1127S|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R1127S|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R1127S P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 1127 Helicase C-terminal. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding p.R1127S(1)|p.R1123S(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) TGAGCACAAGAGCTGGTGGCC 0.502000 25 73 0 0 0.003330 0 0 SPATA31A3 727830 broad.mit.edu 37 9 40705718 40705718 + Silent SNP T T G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:40705718T>G ENST00000356699.5 + 4 3404 c.3375T>G c.(3373-3375)ctT>ctG p.L1125L RP11-395E19.5_ENST00000432614.1_lincRNA NM_001083124.1 NP_001076593.1 SPATA31 subfamily A, member 3 p.L1125L(2) AAGAAAGGCTTGAAGGATTGA 0.468000 49 376 0 0 0.003610 0 0 LRP2 4036 broad.mit.edu 37 2 170163811 170163811 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:170163811C>G ENST00000263816.3 - 4 692 c.407G>C c.(406-408)gGa>gCa p.G136A LRP2_ENST00000443831.1_Missense_Mutation_p.G136A NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 136 LDL-receptor class A 3. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.G136A(1) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CTCATCAGCTCCATCGGGGCA 0.448000 7 108 0 0 0.001984 0 0 CXCL9 4283 broad.mit.edu 37 4 76927368 76927368 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:76927368G>T ENST00000264888.5 - 2 162 c.124C>A c.(124-126)Cac>Aac p.H42N NM_002416.1 NP_002407.1 Q07325 CXCL9_HUMAN chemokine (C-X-C motif) ligand 9 42 cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response extracellular space chemokine activity p.H42N(1) large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1) 11 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GATTGTAGGTGGATAGTCCCT 0.453000 33 178 2.61193e-14 4.41528e-14 0.001786 1 0 CBX3 11335 broad.mit.edu 37 7 26251814 26251814 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:26251814G>T ENST00000337620.4 + 6 966 c.538G>T c.(538-540)Gat>Tat p.D180Y CBX3_ENST00000396386.2_Missense_Mutation_p.D180Y|CBX3_ENST00000409747.1_3'UTR NM_007276.4 NP_009207.2 Q13185 CBX3_HUMAN chromobox homolog 3 180 chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle enzyme binding|protein domain specific binding p.D180Y(1) endometrium(4)|large_intestine(2)|lung(2)|ovary(1) 9 TTGTCCAGAAGATGAAGCTCA 0.313000 6 37 0.00198382 0.00231911 0.001984 1 0 OR13C5 138799 broad.mit.edu 37 9 107361006 107361006 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:107361006G>T ENST00000374779.2 - 1 782 c.689C>A c.(688-690)tCt>tAt p.S230Y NM_001004482.1 NP_001004482.1 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, member 5 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S230F(1)|p.S230Y(1) endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 CCCCTCCGAAGAGCTAATTTT 0.423000 30 85 2.61193e-14 4.41528e-14 0.001786 1 0 LOC644669 644669 broad.mit.edu 37 18 15323297 15323297 + RNA SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr18:15323297A>T ENST00000455308.2 - 0 551 NR_027417.1 ATTTTTTGTCAGTAAAAATTC 0.308000 4 14 0 0 0.000248 0 0 SSTR4 6754 broad.mit.edu 37 20 23017238 23017238 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:23017238C>A ENST00000255008.3 + 1 1182 c.1118C>A c.(1117-1119)cCa>cAa p.P373Q RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 373 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity p.P373Q(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 32 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) GCCCTGCAACCAGAACCCGGC 0.667000 9 87 2.74318e-10 4.25976e-10 0.006214 1 0 BIN1 274 broad.mit.edu 37 2 127808384 127808384 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:127808384C>A ENST00000316724.5 - 17 1977 c.1566G>T c.(1564-1566)atG>atT p.M522I BIN1_ENST00000346226.3_Missense_Mutation_p.M447I|BIN1_ENST00000348750.4_Missense_Mutation_p.M338I|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000351659.3_Missense_Mutation_p.M435I|BIN1_ENST00000409400.1_Missense_Mutation_p.M368I|BIN1_ENST00000352848.3_Missense_Mutation_p.M383I|BIN1_ENST00000393040.3_Missense_Mutation_p.M411I|BIN1_ENST00000259238.4_Missense_Mutation_p.M426I|BIN1_ENST00000393041.3_Missense_Mutation_p.M404I|BIN1_ENST00000357970.3_Missense_Mutation_p.M479I|BIN1_ENST00000376113.2_Missense_Mutation_p.M353I NM_139343.2 NP_647593.1 O00499 BIN1_HUMAN bridging integrator 1 522 SH3. cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development actin cytoskeleton|nucleus p.M426I(1)|p.M522I(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3) 24 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) TCACCTTGAACATGAAACCTG 0.627000 OREG0014962 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 78 9.52127e-25 1.80426e-24 0.003610 1 0 OR8H2 390151 broad.mit.edu 37 11 55873419 55873419 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:55873419G>T ENST00000313503.1 + 1 901 c.901G>T c.(901-903)Gtc>Ttc p.V301F NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V301F(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) GAAAAATGCTGTCATCAGAGT 0.373000 HNSCC(53;0.14) 10 157 6.40141e-05 7.95385e-05 0.000978 1 0 OR8J3 81168 broad.mit.edu 37 11 55904371 55904371 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:55904371G>T ENST00000301529.1 - 1 823 c.824C>A c.(823-825)tCt>tAt p.S275Y NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S275Y(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) GTAAAACACAGAAGCCATCTT 0.398000 23 123 5.35356e-11 8.42361e-11 0.002780 1 0 NAA11 84779 broad.mit.edu 37 4 80246593 80246593 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:80246593T>A ENST00000286794.4 - 1 611 c.439A>T c.(439-441)Atg>Ttg p.M147L NAA11_ENST00000513733.1_5'UTR NM_032693.2 NP_116082.1 Q9BSU3 NAA11_HUMAN N(alpha)-acetyltransferase 11, NatA catalytic subunit 147 N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding p.M147L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2) 23 TCCCGCTTCATAGCATAAGCA 0.512000 13 74 0 0 0.001855 0 0 GPR101 83550 broad.mit.edu 37 X 136113092 136113092 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:136113092C>G ENST00000298110.1 - 1 741 c.742G>C c.(742-744)Gag>Cag p.E248Q NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 248 integral to membrane|plasma membrane G-protein coupled receptor activity p.E248Q(1) autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) TCTGCTCCCTCTTCATCCTCA 0.547000 16 139 0 0 0.006122 0 0 HTR5A 3361 broad.mit.edu 37 7 154862942 154862942 + Silent SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:154862942G>C ENST00000287907.2 + 1 909 c.333G>C c.(331-333)cgG>cgC p.R111R AC093726.4_ENST00000395731.2_Silent_p.L24L|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000543018.1_Silent_p.L24L NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 111 integral to plasma membrane serotonin receptor activity p.R111R(1) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) AGCTAGGTCGGAGGCTGTGCC 0.667000 8 30 0 0 0.004482 0 0 ADH6 130 broad.mit.edu 37 4 100134761 100134761 + Splice_Site SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:100134761A>G ENST00000394897.1 - 3 345 c.e3+1 ADH6_ENST00000407820.2_Intron|ADH6_ENST00000394899.2_Splice_Site|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000237653.7_Splice_Site|RP11-696N14.1_ENST00000500358.2_RNA P28332 ADH6_HUMAN alcohol dehydrogenase 6 (class V) ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding p.?(2) breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2) 20 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) GCTAATTCCTACCTGGTTTCA 0.448000 16 90 0 0 0.004990 0 0 EED 8726 broad.mit.edu 37 11 85963272 85963272 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:85963272G>T ENST00000263360.6 + 3 1036 c.350G>T c.(349-351)gGa>gTa p.G117V EED_ENST00000351625.6_Missense_Mutation_p.G117V|EED_ENST00000327320.4_Missense_Mutation_p.G117V|EED_ENST00000528180.1_Missense_Mutation_p.G117V NM_003797.3 NP_003788.2 O75530 EED_HUMAN embryonic ectoderm development 117 Interaction with EZH2 (By similarity). negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding p.G117V(1) haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 21 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) GCAACTGTAGGAAGCAACAGA 0.338000 5 65 0.000602214 0.0007161 0.000602 1 0 AMER3 205147 broad.mit.edu 37 2 131521382 131521382 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:131521382C>A ENST00000423981.1 + 2 1847 c.1737C>A c.(1735-1737)gcC>gcA p.A579A AMER3_ENST00000321420.4_Silent_p.A579A NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 p.A579A(1) GCCTGCTCGCCGGAGAGAGCA 0.662000 24 34 2.21704e-12 3.60106e-12 0.002780 1 0 SLC12A2 6558 broad.mit.edu 37 5 127487036 127487036 + Silent SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:127487036A>T ENST00000262461.2 + 14 2400 c.2211A>T c.(2209-2211)ctA>ctT p.L737L SLC12A2_ENST00000343225.4_Silent_p.L737L NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 737 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity p.L737L(1) breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) CTGCATTGCTAACATATGTGA 0.383000 20 67 0 0 0.007413 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37486372 37486372 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:37486372G>A ENST00000374660.1 + 35 2968 c.2869G>A c.(2869-2871)Gcc>Acc p.A957T ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A838T|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A838T Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1006 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.A838T(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TCCAAATAAAGCCTTGGAATT 0.313000 26 128 0 0 0.001786 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27535658 27535658 + RNA SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:27535658C>T ENST00000574842.1 + 0 255 AGAAATGAGCCTTCTCACATT 0.488000 107 262 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179431857 179431857 + Nonsense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:179431857C>T ENST00000589042.1 - 326 79226 c.79002G>A c.(79000-79002)tgG>tgA p.W26334* TTN_ENST00000359218.5_Nonsense_Mutation_p.W17394*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W17461*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W24693*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W23766*|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W17269*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24693 Ig-like 127. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.W23764*(1)|p.W23766*(1)|p.W17394*(1)|p.W17269*(1)|p.W17461*(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAACAACAGTCCAGGCAAGTC 0.398000 75 103 0 0 0.003610 0 0 SPRY2 10253 broad.mit.edu 37 13 80911103 80911103 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:80911103C>A ENST00000377102.1 - 2 1715 c.738G>T c.(736-738)caG>caT p.Q246H SPRY2_ENST00000540649.1_Missense_Mutation_p.Q246H|SPRY2_ENST00000377104.3_Missense_Mutation_p.Q246H O43597 SPY2_HUMAN sprouty homolog 2 (Drosophila) 246 Cys-rich.|SPR. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade cytosol|microtubule|ruffle membrane protein serine/threonine kinase activator activity p.Q246H(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 12 Medulloblastoma(90;0.18) Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244) GBM - Glioblastoma multiforme(99;0.0318) AACAGTGAGACTGGCTGCAAG 0.463000 21 69 4.35082e-09 6.50663e-09 0.001523 1 0 TF 7018 broad.mit.edu 37 3 133478117 133478117 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:133478117G>C ENST00000402696.3 + 9 1632 c.1147G>C c.(1147-1149)Ggg>Cgg p.G383R TF_ENST00000264998.3_Missense_Mutation_p.G256R NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 383 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding p.G383R(1)|p.G383W(1) NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) TAACAGTGTAGGGAAAATAGA 0.532000 26 113 0 0 0.003954 0 0 USP46 64854 broad.mit.edu 37 4 53494232 53494232 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:53494232C>A ENST00000441222.2 - 3 400 c.216G>T c.(214-216)aaG>aaT p.K72N USP46_ENST00000508499.1_Missense_Mutation_p.K65N|USP46_ENST00000451218.2_Missense_Mutation_p.K45N NM_022832.3 NP_073743.2 P62068 UBP46_HUMAN ubiquitin specific peptidase 46 72 behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.K72N(1) breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2) 12 LUSC - Lung squamous cell carcinoma(32;0.0295) AGTTTTCCTTCTTCTTTTGCT 0.493000 16 51 6.31663e-08 8.98509e-08 0.003163 1 0 KIR2DL1 3802 broad.mit.edu 37 19 55282321 55282321 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:55282321G>T ENST00000336077.6 + 2 95 c.55G>T c.(55-57)Gcc>Tcc p.A19S KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.A19S|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 19 immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity p.A19S(1) breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) GCTGCAGGGGGCCTGGCCACA 0.562000 73 116 2.01602e-52 4.05648e-52 0.003610 1 0 CPXCR1 53336 broad.mit.edu 37 X 88008656 88008656 + Nonsense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:88008656C>T ENST00000276127.4 + 3 500 c.241C>T c.(241-243)Cga>Tga p.R81* CPXCR1_ENST00000373111.1_Nonsense_Mutation_p.R81* NM_033048.5 NP_149037.4 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 81 intracellular zinc ion binding p.R81*(1) NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2) 40 AAAAGATCAACGAGAAGAAGA 0.458000 4 11 0 0 0.000248 0 0 ZNF208 7757 broad.mit.edu 37 19 22155075 22155075 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:22155075C>G ENST00000397126.4 - 4 2909 c.2761G>C c.(2761-2763)Gaa>Caa p.E921Q ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 p.E821Q(2)|p.E921Q(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TTGCCACATTCTTCACATTTG 0.388000 6 43 0 0 0.001168 0 0 GPR112 139378 broad.mit.edu 37 X 135487937 135487937 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:135487937G>T ENST00000394143.1 + 23 9032 c.8741G>T c.(8740-8742)tGc>tTc p.C2914F GPR112_ENST00000394141.1_Missense_Mutation_p.C2709F|GPR112_ENST00000287534.4_Missense_Mutation_p.C2667F|GPR112_ENST00000412101.1_Missense_Mutation_p.C2709F|GPR112_ENST00000370652.1_Missense_Mutation_p.C2914F NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2914 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.C2914F(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TCCATGTTCTGCACTGTTCTT 0.398000 37 39 9.8876e-21 1.81564e-20 0.004878 1 0 KCNJ16 3773 broad.mit.edu 37 17 68128375 68128375 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:68128375C>A ENST00000585558.1 + 4 640 c.252C>A c.(250-252)caC>caA p.H84Q KCNJ16_ENST00000283936.1_Missense_Mutation_p.H49Q|KCNJ16_ENST00000586462.1_Missense_Mutation_p.H88Q|KCNJ16_ENST00000392670.1_Missense_Mutation_p.H49Q|KCNJ16_ENST00000392671.1_Missense_Mutation_p.H49Q|KCNJ16_ENST00000589377.1_Missense_Mutation_p.H49Q Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel, subfamily J, member 16 49 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity p.H49Q(1) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) ACTTCAAGCACATTTTTGGAG 0.423000 10 123 7.48243e-07 1.01312e-06 0.006214 1 0 YLPM1 56252 broad.mit.edu 37 14 75269332 75269332 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:75269332C>G ENST00000325680.7 + 6 4598 c.4474C>G c.(4474-4476)Cag>Gag p.Q1492E YLPM1_ENST00000238571.3_Missense_Mutation_p.Q1297E|YLPM1_ENST00000552421.1_Missense_Mutation_p.Q786E NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1297 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck p.Q1492E(1)|p.Q1297E(1) breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) TCTACCACCTCAGGAATCAAG 0.403000 6 57 0 0 0.001168 0 0 TAOK3 51347 broad.mit.edu 37 12 118671561 118671561 + Silent SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:118671561T>C ENST00000392533.3 - 9 1051 c.561A>G c.(559-561)ccA>ccG p.P187P TAOK3_ENST00000419821.2_Silent_p.P187P NM_016281.3 NP_057365.3 Q9H2K8 TAOK3_HUMAN TAO kinase 3 187 Protein kinase. MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity p.P187P(1) central_nervous_system(1)|lung(5)|skin(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGATCACCTCTGGAGCCATCC 0.368000 23 36 0 0 0.002780 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906357 164906357 + Silent SNP G G T rs146211129 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:164906357G>T ENST00000475390.1 - 2 2705 c.2262C>A c.(2260-2262)ccC>ccA p.P754P SLITRK3_ENST00000241274.3_Silent_p.P754P O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 754 integral to membrane p.P754P(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 GCTTGTAGATGGGGTTGTTGC 0.582000 HNSCC(40;0.11) 23 107 1.96895e-08 2.85454e-08 0.002780 1 0 KBTBD6 89890 broad.mit.edu 37 13 41705439 41705439 + Silent SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:41705439T>C ENST00000379485.1 - 1 1443 c.1209A>G c.(1207-1209)acA>acG p.T403T KBTBD6_ENST00000499385.2_Silent_p.T337T NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 403 protein binding p.T403T(1) NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CCCAGAGGTCTGTCCTGGGCT 0.502000 6 121 0 0 0.001984 0 0 CPLX2 10814 broad.mit.edu 37 5 175306929 175306929 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:175306929C>G ENST00000359546.4 + 5 929 c.286C>G c.(286-288)Cgg>Ggg p.R96G CPLX2_ENST00000393745.3_Missense_Mutation_p.R96G|CPLX2_ENST00000515094.1_Missense_Mutation_p.R96G NM_001008220.1|NM_006650.3 NP_001008221.1|NP_006641.1 Q6PUV4 CPLX2_HUMAN complexin 2 96 Interaction with the SNARE complex (By similarity). mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis cytosol p.R96G(2) endometrium(3)|kidney(2)|lung(3)|ovary(2) 10 all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GAGCCTGACCCGGCCCAAGAA 0.652000 12 20 0 0 0.002450 0 0 FOCAD 54914 broad.mit.edu 37 9 20881987 20881987 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:20881987G>C ENST00000380249.1 + 22 2799 c.2435G>C c.(2434-2436)gGa>gCa p.G812A FOCAD_ENST00000338382.6_Missense_Mutation_p.G812A|FOCAD_ENST00000605086.1_Missense_Mutation_p.G248A NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 812 integral to membrane binding p.G812A(1) ACTGTAGCAGGAATCCCCAAT 0.418000 8 139 0 0 0.004482 0 0 C5AR2 27202 broad.mit.edu 37 19 47844849 47844849 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:47844849C>A ENST00000595464.1 + 2 1011 c.793C>A c.(793-795)Ctc>Atc p.L265I C5AR2_ENST00000257267.2_Missense_Mutation_p.L265I|C5AR2_ENST00000600626.1_Missense_Mutation_p.L265I NM_001271749.1 NP_001258678.1 complement component 5a receptor 2 p.L265I(1) GAACTCCGCACTCCTGGCCAG 0.652000 20 50 4.35082e-09 6.50663e-09 0.001523 1 0 ELMO1 9844 broad.mit.edu 37 7 36895239 36895239 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:36895239G>T ENST00000310758.4 - 22 2748 c.2101C>A c.(2101-2103)Ctg>Atg p.L701M ELMO1_ENST00000396040.2_Missense_Mutation_p.L221M|ELMO1_ENST00000442504.1_Missense_Mutation_p.L701M|ELMO1_ENST00000448602.1_Missense_Mutation_p.L701M|ELMO1_ENST00000396045.3_Missense_Mutation_p.L221M|ELMO1_ENST00000341056.3_Missense_Mutation_p.L403M NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 701 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding p.L701M(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 ATGTTTTCCAGGTCCAGGAGG 0.572000 39 131 8.69298e-16 1.5142e-15 0.006999 1 0 SPRY2 10253 broad.mit.edu 37 13 80911650 80911650 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:80911650C>A ENST00000377102.1 - 2 1168 c.191G>T c.(190-192)aGa>aTa p.R64I SPRY2_ENST00000540649.1_Missense_Mutation_p.R64I|SPRY2_ENST00000377104.3_Missense_Mutation_p.R64I O43597 SPY2_HUMAN sprouty homolog 2 (Drosophila) 64 epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade cytosol|microtubule|ruffle membrane protein serine/threonine kinase activator activity p.R64I(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 12 Medulloblastoma(90;0.18) Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244) GBM - Glioblastoma multiforme(99;0.0318) GAGCCCAGGTCTTGGGACGAC 0.597000 14 79 4.36969e-10 6.72884e-10 0.001855 1 0 TAS2R39 259285 broad.mit.edu 37 7 142881157 142881157 + Missense_Mutation SNP G G A rs150355894 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:142881157G>A ENST00000446620.1 + 1 646 c.646G>A c.(646-648)Ggg>Agg p.G216R NM_176881.2 NP_795362.2 P59534 T2R39_HUMAN taste receptor, type 2, member 39 216 sensory perception of taste integral to membrane G-protein coupled receptor activity p.G216R(1)|p.G216W(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 Melanoma(164;0.059) CTTTAACCTGGGGATTGTGAC 0.468000 37 97 0 0 0.006230 0 0 FKBP9 11328 broad.mit.edu 37 7 33014286 33014286 + Silent SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:33014286G>C ENST00000242209.4 + 2 448 c.279G>C c.(277-279)ggG>ggC p.G93G FKBP9_ENST00000538443.1_Intron|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Silent_p.G146G NM_007270.3 NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 93 PPIase FKBP-type 1. protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity p.G93G(1) central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) TGATCACAGGGATGGACCAGG 0.453000 86 219 0 0 0.003610 0 0 IFNA10 3446 broad.mit.edu 37 9 21206650 21206650 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:21206650T>A ENST00000357374.2 - 1 492 c.447A>T c.(445-447)agA>agT p.R149S NM_002171.1 NP_002162.1 P01566 IFN10_HUMAN interferon, alpha 10 149 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding p.R149S(1) endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17) AAAGAGTGATTCTTTGGAAGT 0.458000 37 496 0 0 0.007835 0 0 GRM8 2918 broad.mit.edu 37 7 126173818 126173818 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:126173818G>T ENST00000339582.2 - 9 2426 c.1618C>A c.(1618-1620)Cgc>Agc p.R540S GRM8_ENST00000444921.2_Missense_Mutation_p.R540S|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.R540S O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 540 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane p.R540S(1) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CCTTCACAGCGTTCACAGTGC 0.557000 HNSCC(24;0.065) 35 116 2.20474e-14 3.76142e-14 0.003755 1 0 RTCA 8634 broad.mit.edu 37 1 100752704 100752704 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:100752704G>T ENST00000370128.4 + 10 1113 c.944G>T c.(943-945)gGa>gTa p.G315V RTCA_ENST00000260563.4_Missense_Mutation_p.G328V NM_003729.3 NP_003720.1 O00442 RTC1_HUMAN RNA 3'-terminal phosphate cyclase 315 RNA processing mitochondrion|nucleoplasm ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity p.G315V(1) ATAAAAACAGGACCAGTTACA 0.323000 15 67 2.39187e-15 4.14458e-15 0.008871 1 0 KRTAP21-2 337978 broad.mit.edu 37 21 32119316 32119316 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr21:32119316C>T ENST00000333892.2 - 1 235 c.205G>A c.(205-207)Ggc>Agc p.G69S NM_181617.1 NP_853648.1 Q3LI59 KR212_HUMAN keratin associated protein 21-2 69 intermediate filament p.C68_G69>WS(1) lung(4)|skin(2)|upper_aerodigestive_tract(1) 7 GGTCGGTAGCCACAGCAGCTA 0.498000 13 125 0 0 0.001855 0 0 ZNF260 339324 broad.mit.edu 37 19 37005747 37005747 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:37005747C>T ENST00000523638.1 - 3 1515 c.394G>A c.(394-396)Gga>Aga p.G132R ZNF260_ENST00000592282.1_Missense_Mutation_p.G132R|ZNF260_ENST00000588993.1_Missense_Mutation_p.G132R|ZNF260_ENST00000593142.1_Missense_Mutation_p.G132R NM_001166036.1|NM_001166037.1|NM_001166038.1 NP_001159508.1|NP_001159509.1|NP_001159510.1 Q3ZCT1 ZN260_HUMAN zinc finger protein 260 132 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G132R(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8) 15 Esophageal squamous(110;0.162) GGTTTGGTTCCTGTATGATTT 0.388000 106 129 0 0 0.003610 0 0 PCGF5 84333 broad.mit.edu 37 10 93011157 93011157 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:93011157G>A ENST00000336126.5 + 6 666 c.434G>A c.(433-435)tGt>tAt p.C145Y PCGF5_ENST00000543648.1_Missense_Mutation_p.C145Y NM_001257101.1|NM_032373.4 NP_001244030.1|NP_115749.2 Q86SE9 PCGF5_HUMAN polycomb group ring finger 5 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|PcG protein complex zinc ion binding p.C145Y(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6) 12 TGTCTAGATTGTTTACGAAAT 0.338000 8 46 0 0 0.006214 0 0 OBSCN 84033 broad.mit.edu 37 1 228481254 228481254 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:228481254G>T ENST00000570156.2 + 46 12429 c.12355G>T c.(12355-12357)Gac>Tac p.D4119Y OBSCN_ENST00000366709.4_Missense_Mutation_p.D809Y|OBSCN_ENST00000366707.4_Missense_Mutation_p.D809Y|OBSCN_ENST00000359599.6_Missense_Mutation_p.D2537Y|OBSCN_ENST00000284548.11_Missense_Mutation_p.D3690Y|OBSCN_ENST00000422127.1_Missense_Mutation_p.D3690Y NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3161 Ig-like 42. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.D3973Y(1)|p.D3874Y(1)|p.D3744Y(1)|p.D3690Y(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CGTGGCAGAGGACGCTGGGGA 0.632000 37 64 2.19489e-29 4.28649e-29 0.006230 1 0 SLC12A6 9990 broad.mit.edu 37 15 34536239 34536239 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr15:34536239C>A ENST00000354181.3 - 16 2470 c.1978G>T c.(1978-1980)Gca>Tca p.A660S SLC12A6_ENST00000290209.5_Missense_Mutation_p.A609S|SLC12A6_ENST00000458406.2_Missense_Mutation_p.A601S|SLC12A6_ENST00000451844.2_Missense_Mutation_p.A472S|SLC12A6_ENST00000397702.2_Missense_Mutation_p.A601S|SLC12A6_ENST00000397707.2_Missense_Mutation_p.A645S|SLC12A6_ENST00000560164.1_Missense_Mutation_p.A472S|SLC12A6_ENST00000560611.1_Missense_Mutation_p.A660S|SLC12A6_ENST00000558667.1_Missense_Mutation_p.A660S|SLC12A6_ENST00000558589.1_Missense_Mutation_p.A651S Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 660 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity p.A609S(1)|p.A651S(1) central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) AAGGCACATGCCAAGTTTACA 0.378000 32 73 4.11147e-13 6.79786e-13 0.003755 1 0 ZNF804B 219578 broad.mit.edu 37 7 88966076 88966076 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:88966076C>T ENST00000333190.4 + 4 4389 c.3780C>T c.(3778-3780)ccC>ccT p.P1260P NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1260 intracellular zinc ion binding p.P1260P(1) NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CTGCACACCCCACTTTCTTAG 0.483000 HNSCC(36;0.09) 13 193 0 0 0.001855 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454950 84454950 + Silent SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:84454950G>C ENST00000377084.2 - 1 1578 c.693C>G c.(691-693)ccC>ccG p.P231P NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 231 LRRCT 1. integral to membrane p.P231Q(1) NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GGGCATTCTTGGGAATGTTTT 0.522000 13 63 0 0 0.002450 0 0 RNF213 57674 broad.mit.edu 37 17 78319272 78319272 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:78319272G>T ENST00000582970.1 + 29 7280 c.7137G>T c.(7135-7137)ctG>ctT p.L2379L RNF213_ENST00000336301.6_Silent_p.L452L|RNF213_ENST00000508628.2_Silent_p.L2428L NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 p.L2428L(1)|p.L452L(1) NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GGCTCTGCCTGACCTTAGGGA 0.547000 13 78 9.05144e-12 1.45173e-11 0.001855 1 0 FRAS1 80144 broad.mit.edu 37 4 79204011 79204011 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:79204011G>T ENST00000264895.6 + 12 1585 c.1145G>T c.(1144-1146)tGt>tTt p.C382F FRAS1_ENST00000264899.6_Missense_Mutation_p.C382F|FRAS1_ENST00000325942.6_Missense_Mutation_p.C382F NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 382 VWFC 6. cell communication integral to membrane|plasma membrane metal ion binding p.C382F(3) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TGCAAGGTGTGTGAGTGCCGA 0.537000 13 95 4.93089e-13 8.14456e-13 0.002450 1 0 CPE 1363 broad.mit.edu 37 4 166385731 166385731 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:166385731C>A ENST00000402744.4 + 2 777 c.497C>A c.(496-498)gCg>gAg p.A166E NM_001873.2 NP_001864.1 P16870 CBPE_HUMAN carboxypeptidase E 166 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding p.A166E(1) endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GAGAAGGCAGCGTCTCAGGTG 0.463000 OREG0016390 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 22 1.12685e-05 1.45231e-05 0.004482 1 0 DLG2 1740 broad.mit.edu 37 11 83641482 83641482 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:83641482T>A ENST00000398309.2 - 10 1540 c.1070A>T c.(1069-1071)aAg>aTg p.K357M DLG2_ENST00000531015.1_Missense_Mutation_p.K324M|DLG2_ENST00000280241.8_Missense_Mutation_p.K396M|DLG2_ENST00000376104.2_Missense_Mutation_p.K462M|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000543673.1_Missense_Mutation_p.K462M|DLG2_ENST00000398301.2_Missense_Mutation_p.K396M|DLG2_ENST00000537455.1_Missense_Mutation_p.K111M|DLG2_ENST00000330014.6_Missense_Mutation_p.K296M|DLG2_ENST00000532653.1_Missense_Mutation_p.K357M|DLG2_ENST00000524982.1_Missense_Mutation_p.K357M|DLG2_ENST00000376106.3_De_novo_Start_InFrame NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 357 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding p.K357M(1)|p.K462M(1)|p.K396M(1) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) AGAAGCAGGCTTATCACATAG 0.488000 21 130 0 0 0.005443 0 0 BRINP3 339479 broad.mit.edu 37 1 190067407 190067407 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:190067407C>A ENST00000367462.3 - 8 2273 c.2042G>T c.(2041-2043)cGg>cTg p.R681L FAM5C_ENST00000534846.1_Missense_Mutation_p.R579L|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 681 extracellular region p.R681L(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) AATCAGGTCCCGAATTGCTTC 0.458000 62 90 1.50372e-20 2.75212e-20 0.003610 1 0 SCN10A 6336 broad.mit.edu 37 3 38781150 38781150 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:38781150C>A ENST00000449082.2 - 14 2135 c.2136G>T c.(2134-2136)atG>atT p.M712I NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 712 sensory perception voltage-gated sodium channel complex p.M712I(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TTTTGAAGACCATTTCAGCAG 0.433000 9 31 1.76689e-08 2.56385e-08 0.006214 1 0 HIAT1 64645 broad.mit.edu 37 1 100515506 100515506 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:100515506C>A ENST00000370152.3 + 2 262 c.126C>A c.(124-126)atC>atA p.I42I NM_033055.2 NP_149044.2 Q96MC6 HIAT1_HUMAN hippocampus abundant transcript 1 42 transmembrane transport integral to membrane|plasma membrane transporter activity p.I42I(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1) 16 all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) ATGCAGTTATCGTCATCTTTT 0.318000 12 68 2.61681e-11 4.14495e-11 0.002450 1 0 GTPBP8 29083 broad.mit.edu 37 3 112710111 112710111 + Missense_Mutation SNP G G A rs146036883 byFrequency TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:112710111G>A ENST00000383677.3 + 1 280 c.265G>A c.(265-267)Gaa>Aaa p.E89K GTPBP8_ENST00000383678.2_Missense_Mutation_p.E89K NM_138485.1 NP_612494.1 Q8N3Z3 GTPB8_HUMAN GTP-binding protein 8 (putative) 89 barrier septum formation GTP binding p.E89K(1) kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 6 CACGGCCACTGAACGGAACCG 0.637000 4 56 0 0 0.000248 0 0 ANKRD17 26057 broad.mit.edu 37 4 73956695 73956695 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:73956695G>A ENST00000358602.4 - 29 6766 c.6650C>T c.(6649-6651)tCt>tTt p.S2217F ANKRD17_ENST00000330838.6_Missense_Mutation_p.S1966F|ANKRD17_ENST00000509867.2_Missense_Mutation_p.S2104F NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 2217 interspecies interaction between organisms cytoplasm|nucleus RNA binding p.S2217F(1) NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TAGCTGGACAGAAGAGGGAAC 0.453000 22 251 0 0 0.003330 0 0 SVEP1 79987 broad.mit.edu 37 9 113169032 113169032 + Nonsense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:113169032C>A ENST00000401783.2 - 38 9184 c.8848G>T c.(8848-8850)Gga>Tga p.G2950* SVEP1_ENST00000374469.1_Nonsense_Mutation_p.G2927*|SVEP1_ENST00000297826.5_Nonsense_Mutation_p.G876* NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2950 Sushi 26. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding p.G2953*(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TCAGGAGGTCCACAGTTGACT 0.483000 36 209 2.19358e-23 4.12383e-23 0.005524 1 0 NUP214 8021 broad.mit.edu 37 9 134039265 134039265 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:134039265G>T ENST00000359428.5 + 20 2876 c.2732G>T c.(2731-2733)aGt>aTt p.S911I RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.S912I|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589128.1_RNA|RP11-544A12.4_ENST00000588325.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.S901I|RP11-544A12.4_ENST00000417798.2_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000586662.1_RNA P35658 NU214_HUMAN nucleoporin 214kDa 911 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding p.S911I(1) NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) AGTTTTGACAGTGACCTGGAA 0.438000 T """DEK, SET, ABL1""" """AML, T-ALL""" 45 182 1.81118e-26 3.4758e-26 0.003610 1 0 USP34 9736 broad.mit.edu 37 2 61605508 61605508 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:61605508C>G ENST00000398571.2 - 8 1142 c.1066G>C c.(1066-1068)Gac>Cac p.D356H NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 356 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.D356H(1) autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) GTTTCTGTGTCCGATACTAAT 0.249000 7 62 0 0 0.001984 0 0 CDH10 1008 broad.mit.edu 37 5 24491822 24491822 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:24491822C>G ENST00000264463.4 - 11 2246 c.1739G>C c.(1738-1740)gGc>gCc p.G580A CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 580 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G580A(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GGTCAGTGTGCCTGTGCTGCT 0.498000 HNSCC(23;0.051) 13 81 0 0 0.002450 0 0 ANK1 286 broad.mit.edu 37 8 41542077 41542077 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:41542077G>T ENST00000396942.1 - 37 4605 c.4522C>A c.(4522-4524)Ccc>Acc p.P1508T ANK1_ENST00000396945.1_Missense_Mutation_p.P1508T|ANK1_ENST00000347528.4_Missense_Mutation_p.P1508T|ANK1_ENST00000352337.4_Missense_Mutation_p.P1508T|ANK1_ENST00000379758.2_Missense_Mutation_p.P1508T|ANK1_ENST00000265709.8_Missense_Mutation_p.P1549T|ANK1_ENST00000289734.7_Missense_Mutation_p.P1508T P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1508 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.P1549T(1)|p.P1508T(1) breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) ATCTGGGAGGGTGACAGCGAG 0.607000 9 55 0.00448238 0.00518158 0.004482 1 0 CEP97 79598 broad.mit.edu 37 3 101447769 101447769 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:101447769G>T ENST00000341893.3 + 4 1187 c.435G>T c.(433-435)ttG>ttT p.L145F CEP97_ENST00000327230.4_Missense_Mutation_p.L145F|CEP97_ENST00000494050.1_Missense_Mutation_p.L145F Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 145 centrosome|nucleus protein binding p.L145F(2) cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 TATCTAAATTGGTATCCCTGA 0.353000 9 55 0.000442599 0.000529715 0.006214 1 0 ZNF814 730051 broad.mit.edu 37 19 58384403 58384403 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:58384403G>A ENST00000435989.2 - 3 2589 c.2355C>T c.(2353-2355)tcC>tcT p.S785S ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 785 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S785S(1) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 TTGTGAAACTGGAGCTTTCAG 0.408000 11 23 0 0 0.000978 0 0 RGS22 26166 broad.mit.edu 37 8 100994230 100994230 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:100994230C>G ENST00000360863.6 - 22 3489 c.3295G>C c.(3295-3297)Gag>Cag p.E1099Q RGS22_ENST00000523287.1_Missense_Mutation_p.E918Q|RGS22_ENST00000523437.1_Missense_Mutation_p.E1087Q NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 1099 RGS 2. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity p.E1099Q(2) RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TGGGCTTGCTCTACTGGAATG 0.388000 33 150 0 0 0.002836 0 0 MXRA5 25878 broad.mit.edu 37 X 3235987 3235987 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:3235987G>T ENST00000217939.6 - 6 5889 c.5735C>A c.(5734-5736)aCc>aAc p.T1912N NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1912 Ig-like C2-type 3. extracellular region p.T1912N(2) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TATCACTAAGGTACCGTTCTT 0.498000 13 16 1.5842e-08 2.33136e-08 0.001855 1 0 TRO 7216 broad.mit.edu 37 X 54956381 54956381 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:54956381C>A ENST00000173898.7 + 12 3336 c.3224C>A c.(3223-3225)aCc>aAc p.T1075N TRO_ENST00000319167.8_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.T606N|TRO_ENST00000375022.4_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.T678N NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 1075 62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane p.T1075N(1) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 GCCGTCAGCACCAGTGCCAGC 0.577000 8 13 0.000157383 0.000191818 0.003080 1 0 CCDC15 80071 broad.mit.edu 37 11 124857934 124857934 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:124857934G>T ENST00000529051.1 + 8 2071 c.1812G>T c.(1810-1812)caG>caT p.Q604H CCDC15_ENST00000344762.5_Missense_Mutation_p.Q604H Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 604 centrosome p.Q604H(2) central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) CCATATGTCAGGACCGGGATT 0.413000 32 164 1.13719e-10 1.77753e-10 0.008361 1 0 TXLNB 167838 broad.mit.edu 37 6 139564124 139564124 + Nonsense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:139564124C>A ENST00000358430.3 - 10 1826 c.1594G>T c.(1594-1596)Gag>Tag p.E532* RP1-225E12.3_ENST00000585874.1_RNA NM_153235.3 NP_694967.3 Q8N3L3 TXLNB_HUMAN taxilin beta 532 cytoplasm p.E532*(1) breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) TCAGCACTCTCCTGAGAACTG 0.557000 14 143 0.000219431 0.000266659 0.002450 1 0 TSSC1 7260 broad.mit.edu 37 2 3341795 3341795 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:3341795G>A ENST00000398659.4 - 3 392 c.252C>T c.(250-252)taC>taT p.Y84Y TSSC1_ENST00000443925.2_Silent_p.Y84Y|TSSC1_ENST00000382125.4_Silent_p.Y84Y Q53HC9 TSSC1_HUMAN tumor suppressing subtransferable candidate 1 84 protein binding p.Y84Y(1) breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 18 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.212) OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464) TACTTCTGTTGTAGCAGGTCG 0.443000 10 108 0 0 0.008291 0 0 ZNF800 168850 broad.mit.edu 37 7 127013541 127013541 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:127013541G>C ENST00000393313.1 - 5 2440 c.1849C>G c.(1849-1851)Ctt>Gtt p.L617V ZNF800_ENST00000393312.1_Missense_Mutation_p.L617V|ZNF800_ENST00000485577.1_5'UTR|ZNF800_ENST00000265827.3_Missense_Mutation_p.L617V Q2TB10 ZN800_HUMAN zinc finger protein 800 617 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L617V(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 CATCTGTGAAGAGAAAAGTTT 0.358000 14 82 0 0 0.002450 0 0 DYSF 8291 broad.mit.edu 37 2 71744159 71744159 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:71744159G>T ENST00000258104.3 + 9 1173 c.896G>T c.(895-897)gGg>gTg p.G299V DYSF_ENST00000410041.1_Missense_Mutation_p.G331V|DYSF_ENST00000409366.1_Missense_Mutation_p.G300V|DYSF_ENST00000409651.1_Missense_Mutation_p.G331V|DYSF_ENST00000413539.2_Missense_Mutation_p.G330V|DYSF_ENST00000410020.3_Missense_Mutation_p.G331V|DYSF_ENST00000409762.1_Missense_Mutation_p.G330V|DYSF_ENST00000409744.1_Missense_Mutation_p.G300V|DYSF_ENST00000409582.3_Missense_Mutation_p.G330V|DYSF_ENST00000394120.2_Missense_Mutation_p.G300V|DYSF_ENST00000429174.2_Missense_Mutation_p.G299V NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 299 C2 2. G -> E (in MMD1).|G -> R (in LGMD2B and proximodistal myopathy).|G -> W (in MMD1). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding p.G299V(1)|p.G331V(1) autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GCTCTCCTCGGGGAGTTCCGG 0.527000 10 73 3.86212e-05 4.81677e-05 0.008291 1 0 FAM118B 79607 broad.mit.edu 37 11 126081500 126081500 + Translation_Start_Site SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:126081500A>T ENST00000533050.1 + 0 192 RPUSD4_ENST00000298317.4_Missense_Mutation_p.W12R|RPUSD4_ENST00000533628.1_Missense_Mutation_p.W12R NM_024556.3 NP_078832.1 Q9BPY3 F118B_HUMAN family with sequence similarity 118, member B p.W12R(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1) 13 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784) CCCCGGATCCAGGGGCCCGAC 0.637000 52 115 0 0 0.003610 0 0 POTEA 340441 broad.mit.edu 37 8 43211972 43211972 + RNA SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:43211972C>A ENST00000522175.2 + 0 1295 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A p.S477R(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TCAAAAATAGCCACTATGAGC 0.363000 6 38 0.00198382 0.00231911 0.001984 1 0 GOLGB1 2804 broad.mit.edu 37 3 121417022 121417022 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:121417022C>G ENST00000393667.3 - 13 2458 c.2348G>C c.(2347-2349)aGg>aCg p.R783T GOLGB1_ENST00000340645.5_Missense_Mutation_p.R778T NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 778 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding p.R778T(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TCTTCTTTGCCTTTCTGCTTC 0.433000 42 123 0 0 0.002852 0 0 NPFFR2 10886 broad.mit.edu 37 4 72994430 72994430 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:72994430A>T ENST00000308744.6 + 2 526 c.428A>T c.(427-429)cAg>cTg p.Q143L NPFFR2_ENST00000358749.3_Missense_Mutation_p.Q41L|NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000395999.1_Missense_Mutation_p.Q44L NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 143 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity p.Q143L(1) NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) TATCTTCACCAGCCTCAAGTG 0.368000 15 80 0 0 0.002450 0 0 SIDT2 51092 broad.mit.edu 37 11 117058097 117058097 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:117058097A>T ENST00000324225.4 + 11 1550 c.1019A>T c.(1018-1020)cAc>cTc p.H340L SIDT2_ENST00000431081.2_Missense_Mutation_p.H344L NM_001040455.1 NP_001035545.1 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 340 integral to membrane|lysosomal membrane p.H340L(1) NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 36 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) ATTGCAGGTCACCCTCGAGTC 0.527000 7 142 0 0 0.006214 0 0 HAND2 9464 broad.mit.edu 37 4 174448523 174448523 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:174448523C>T ENST00000359562.4 - 2 1498 c.559G>A c.(559-561)Gaa>Aaa p.E187K HAND2-AS1_ENST00000512099.1_RNA NM_021973.2 NP_068808.1 P61296 HAND2_HUMAN heart and neural crest derivatives expressed 2 187 adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development nuclear chromatin|transcription factor complex activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity p.E187K(1) endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 13 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) TTCAAGATTTCGTTCTGGACA 0.572000 9 137 0 0 0.004482 0 0 CMYA5 202333 broad.mit.edu 37 5 79030273 79030273 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:79030273G>T ENST00000446378.2 + 2 5716 c.5685G>T c.(5683-5685)atG>atT p.M1895I NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1895 perinuclear region of cytoplasm p.M1895I(2) NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AAAACTGGATGTTGGGAAAGC 0.433000 25 34 1.88708e-17 3.3756e-17 0.008361 1 0 MYO7B 4648 broad.mit.edu 37 2 128351140 128351140 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:128351140A>T ENST00000389524.4 + 18 2218 c.2165A>T c.(2164-2166)cAg>cTg p.Q722L MYO7B_ENST00000409816.2_Missense_Mutation_p.Q722L|MYO7B_ENST00000428314.1_Missense_Mutation_p.Q722L Q6PIF6 MYO7B_HUMAN myosin VIIB 722 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity p.Q722L(2) breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) AAGCTCCGCCAGATGACCCTG 0.617000 32 73 0 0 0.003271 0 0 SMYD1 150572 broad.mit.edu 37 2 88409967 88409967 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:88409967C>A ENST00000419482.2 + 10 1494 c.1409C>A c.(1408-1410)cCc>cAc p.P470H SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.P457H NM_198274.3 NP_938015.1 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 470 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding p.P470H(1) NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 AACAACCAGCCCATGCAGGTC 0.602000 5 11 5.9392e-07 8.08784e-07 0.001168 1 0 FITM1 161247 broad.mit.edu 37 14 24601569 24601569 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:24601569G>T ENST00000267426.5 + 2 705 c.416G>T c.(415-417)gGc>gTc p.G139V FITM1_ENST00000559294.1_5'UTR NM_203402.2 NP_981947.1 A5D6W6 FITM1_HUMAN fat storage-inducing transmembrane protein 1 139 lipid particle organization|positive regulation of sequestering of triglyceride endoplasmic reticulum membrane|integral to membrane p.G139V(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 CGGGGAGCCGGCCGGGCCTTC 0.667000 21 32 2.89027e-11 4.56938e-11 0.002299 1 0 C10orf88 80007 broad.mit.edu 37 10 124697465 124697465 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:124697465T>A ENST00000481909.1 - 5 1083 c.859A>T c.(859-861)Aat>Tat p.N287Y C10orf88_ENST00000368891.5_5'UTR NM_024942.3 NP_079218.2 Q9H8K7 CJ088_HUMAN chromosome 10 open reading frame 88 287 p.N287Y(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1) 18 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) TTGGTAGAATTCTCTCCACCA 0.373000 18 42 0 0 0.007413 0 0 C10orf71 118461 broad.mit.edu 37 10 50531576 50531576 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:50531576C>A ENST00000374144.3 + 3 1274 c.986C>A c.(985-987)gCc>gAc p.A329D C10orf71_ENST00000323868.4_Missense_Mutation_p.A329D Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 329 p.A329D(2) endometrium(1) 1 CAGGTCCAGGCCAGCTGCAGT 0.582000 14 44 1.49906e-05 1.90978e-05 0.002450 1 0 TTN 7273 broad.mit.edu 37 2 179516903 179516903 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:179516903G>T ENST00000589042.1 - 204 39439 c.39215C>A c.(39214-39216)cCa>cAa p.P13072Q TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P11565Q|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10638Q|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11423 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P10638Q(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGCACCTCTGGGACTTTAAA 0.408000 68 120 2.02627e-32 4.01865e-32 0.003610 1 0 SEZ6L 23544 broad.mit.edu 37 22 26688935 26688935 + Nonsense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:26688935G>T ENST00000529632.2 + 2 854 c.658G>T c.(658-660)Gaa>Taa p.E220* SEZ6L_ENST00000248933.6_Nonsense_Mutation_p.E220*|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Nonsense_Mutation_p.E220*|SEZ6L_ENST00000360929.3_Nonsense_Mutation_p.E220*|SEZ6L_ENST00000404234.3_Nonsense_Mutation_p.E220* NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 220 endoplasmic reticulum membrane|integral to membrane p.E220*(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CCAGAGGCCAGAACCCGGGGA 0.647000 16 62 6.49762e-13 1.06476e-12 0.006122 1 0 BPTF 2186 broad.mit.edu 37 17 65962715 65962715 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:65962715G>C ENST00000321892.4 + 28 8921 c.8860G>C c.(8860-8862)Gaa>Caa p.E2954Q BPTF_ENST00000335221.5_Missense_Mutation_p.E2811Q|BPTF_ENST00000306378.6_Missense_Mutation_p.E2828Q|BPTF_ENST00000424123.3_Missense_Mutation_p.E2672Q Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2954 Bromo. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding p.E2811Q(1)|p.E2828Q(1) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) GCCTTTCCTTGAACCAGTAGA 0.373000 7 91 0 0 0.004482 0 0 DENND4C 55667 broad.mit.edu 37 9 19352178 19352178 + Nonsense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:19352178G>T ENST00000307015.9 + 21 3919 c.2167G>T c.(2167-2169)Gag>Tag p.E723* DENND4C_ENST00000434457.2_Nonsense_Mutation_p.E1535*|DENND4C_ENST00000602925.1_Nonsense_Mutation_p.E1486*|DENND4C_ENST00000380432.2_Nonsense_Mutation_p.E1250*|DENND4C_ENST00000540671.1_Nonsense_Mutation_p.E580* Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 1250 integral to membrane p.E1250*(1) breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 TTGTGCAATGGAGGTAAAAGT 0.358000 18 44 1.67942e-08 2.45408e-08 0.006122 1 0 HDAC9 9734 broad.mit.edu 37 7 18832988 18832988 + Nonsense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:18832988G>A ENST00000406451.3 + 17 2376 c.2226G>A c.(2224-2226)tgG>tgA p.W742* HDAC9_ENST00000401921.1_Nonsense_Mutation_p.W701*|HDAC9_ENST00000441542.2_Nonsense_Mutation_p.W745*|HDAC9_ENST00000432645.2_Nonsense_Mutation_p.W742* NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 742 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity p.W745*(2) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) ACACCATTTGGAATGAGCTAC 0.532000 3 9 0 0 0.004672 0 0 CHRD 8646 broad.mit.edu 37 3 184102866 184102866 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:184102866G>T ENST00000204604.1 + 14 1904 c.1658G>T c.(1657-1659)gGg>gTg p.G553V CHRD_ENST00000545352.1_Missense_Mutation_p.G183V|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.G553V|CHRD_ENST00000348986.3_Missense_Mutation_p.G513V NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 553 CHRD 4. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding p.G266V(1)|p.G553V(1) NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CAAGCAGCAGGGCACGCCTGG 0.617000 55 149 2.29192e-23 4.30382e-23 0.003610 1 0 SRCAP 10847 broad.mit.edu 37 16 30723384 30723384 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:30723384G>T ENST00000262518.4 + 12 2106 c.1721G>T c.(1720-1722)gGg>gTg p.G574V SRCAP_ENST00000395059.2_Missense_Mutation_p.G574V|SRCAP_ENST00000344771.4_Missense_Mutation_p.G574V NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 574 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity p.G574V(1) NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CCTACTCCAGGGCCCACTACT 0.537000 19 59 1.01871e-10 1.59534e-10 0.008871 1 0 LRRC15 131578 broad.mit.edu 37 3 194081494 194081494 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:194081494C>A ENST00000347624.3 - 2 364 c.279G>T c.(277-279)acG>acT p.T93T LRRC15_ENST00000439944.2_Silent_p.T99T|LRRC15_ENST00000428839.1_Silent_p.T99T NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 93 integral to membrane p.T93T(1) biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) AGGCCCCAGGCGTGATGCGCG 0.587000 13 43 1.05317e-09 1.60097e-09 0.002450 1 0 F13B 2165 broad.mit.edu 37 1 197026157 197026157 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:197026157G>C ENST00000367412.1 - 7 1200 c.1157C>G c.(1156-1158)cCt>cGt p.P386R NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 386 Sushi 6. blood coagulation extracellular region p.P386R(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 ACACTCAGGAGGAAGTGTCCA 0.358000 7 71 0 0 0.001984 0 0 MYPN 84665 broad.mit.edu 37 10 69881444 69881444 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:69881444C>G ENST00000358913.5 + 2 737 c.249C>G c.(247-249)atC>atG p.I83M MYPN_ENST00000540630.1_Missense_Mutation_p.I83M|MYPN_ENST00000373675.3_Missense_Mutation_p.I83M|MYPN_ENST00000354393.2_Intron NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 83 Interaction with CARP. nucleus|sarcomere actin binding p.I83M(1) breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 GACTGGCCATCAATTACGACC 0.448000 11 42 0 0 0.000978 0 0 PAPD7 11044 broad.mit.edu 37 5 6742603 6742603 + Splice_Site SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:6742603G>T ENST00000230859.6 + 5 388 c.258_splice c.e5-1 p.V87_splice NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 87 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding p.V87L(1)|p.V87I(1) cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 ATCTTTACAGGTACCAATAAT 0.428000 15 32 1.99824e-07 2.77347e-07 0.004990 1 0 HGS 9146 broad.mit.edu 37 17 79662893 79662893 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:79662893C>T ENST00000329138.4 + 15 1392 c.1257C>T c.(1255-1257)ttC>ttT p.F419F NM_004712.4 NP_004703.1 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine kinase substrate 419 Interaction with SNX1 (By similarity). cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding p.F419F(1) endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) TCACCACCTTCGTGAACCGCA 0.607000 5 46 0 0 0.001168 0 0 COL4A5 1287 broad.mit.edu 37 X 107814669 107814669 + Silent SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:107814669C>G ENST00000328300.6 + 7 655 c.411C>G c.(409-411)ccC>ccG p.P137P COL4A5_ENST00000361603.2_Silent_p.P137P NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 137 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding p.P137P(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 CAGGCAGTCCCGGTTTTCCTG 0.393000 Alport syndrome with Diffuse Leiomyomatosis 50 127 0 0 0.003610 0 0 HTR3B 9177 broad.mit.edu 37 11 113803681 113803681 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:113803681C>T ENST00000260191.2 + 6 819 c.562C>T c.(562-564)Ctg>Ttg p.L188L HTR3B_ENST00000537778.1_Silent_p.L177L NM_006028.4 NP_006019.1 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 188 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity p.L188L(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) CCTGGCCTTTCTGAGGAGCCC 0.468000 21 76 0 0 0.002780 0 0 CCKAR 886 broad.mit.edu 37 4 26483736 26483736 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:26483736G>T ENST00000295589.3 - 5 1005 c.811C>A c.(811-813)Ctg>Atg p.L271M NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 271 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity p.L271M(2) NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) GTCTTTTGCAGGTAACACCCA 0.602000 41 62 3.09479e-21 5.70816e-21 0.006999 1 0 C11orf82 220042 broad.mit.edu 37 11 82643033 82643033 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:82643033A>G ENST00000533655.1 + 6 865 c.653A>G c.(652-654)tAt>tGt p.Y218C C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525388.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.Y218C|C11orf82_ENST00000329143.3_5'UTR NM_145018.3 NP_659455.3 Q8IXT1 NOXIN_HUMAN chromosome 11 open reading frame 82 218 apoptosis|cell cycle arrest cytoplasm|nucleus p.Y218C(1) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 AGCAGCATATATACTTCTGAC 0.378000 27 108 0 0 0.004656 0 0 EYS 346007 broad.mit.edu 37 6 66115103 66115103 + Silent SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:66115103T>A ENST00000503581.1 - 6 1557 c.1020A>T c.(1018-1020)ccA>ccT p.P340P EYS_ENST00000370621.3_Silent_p.P340P|EYS_ENST00000370616.2_Silent_p.P340P|EYS_ENST00000370618.3_Silent_p.P340P|EYS_ENST00000342421.5_Silent_p.P340P|EYS_ENST00000393380.2_Silent_p.P340P NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 340 EGF-like 4. response to stimulus|visual perception extracellular region calcium ion binding p.P340P(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 CATTCTGACATGGTACTAATG 0.333000 35 93 0 0 0.002836 0 0 SLC9A9 285195 broad.mit.edu 37 3 143214218 143214218 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:143214218G>T ENST00000316549.6 - 10 1370 c.1162C>A c.(1162-1164)Cag>Aag p.Q388K NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 388 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity p.Q388K(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 ATATGATTCTGGAACGTGAAC 0.353000 44 129 1.0096e-33 2.00471e-33 0.003610 1 0 TTN 7273 broad.mit.edu 37 2 179583950 179583950 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:179583950G>T ENST00000589042.1 - 83 24391 c.24167C>A c.(24166-24168)aCg>aAg p.T8056K TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T7739K|TTN_ENST00000342992.6_Missense_Mutation_p.T6812K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7739 Ig-like 63. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.T6812K(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGCCACACACGTGTATATGCC 0.498000 49 55 2.13384e-23 4.01607e-23 0.003610 1 0 PROS1 5627 broad.mit.edu 37 3 93605239 93605239 + Nonsense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:93605239C>A ENST00000394236.3 - 11 1580 c.1264G>T c.(1264-1266)Gaa>Taa p.E422* PROS1_ENST00000407433.1_Nonsense_Mutation_p.E291* NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 422 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity p.E422*(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) ACTTTGGTTTCCAGCAATCCA 0.378000 38 199 6.45866e-13 1.06152e-12 0.008740 1 0 TTN 7273 broad.mit.edu 37 2 179398288 179398288 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:179398288G>T ENST00000589042.1 - 358 103278 c.103054C>A c.(103054-103056)Cta>Ata p.L34352I TTN_ENST00000359218.5_Missense_Mutation_p.L25412I|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L25479I|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L32711I|TTN_ENST00000342992.6_Missense_Mutation_p.L31784I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L25287I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588804.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32711 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.L25479I(1)|p.L31782I(1)|p.L25412I(1)|p.L25287I(1)|p.L31784I(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTGGGTGTAGGGTTACTGTC 0.433000 29 48 1.5548e-18 2.81151e-18 0.005443 1 0 AKAP6 9472 broad.mit.edu 37 14 33293232 33293232 + Silent SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:33293232A>G ENST00000280979.4 + 13 6383 c.6213A>G c.(6211-6213)ctA>ctG p.L2071L AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 2071 PKA-RII subunit binding domain. protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding p.L2071L(1) NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CGACAGCCCTAAAAAGTAAAT 0.433000 5 59 0 0 0.001168 0 0 TEX37 200523 broad.mit.edu 37 2 88828655 88828655 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:88828655C>A ENST00000303254.3 + 4 348 c.206C>A c.(205-207)cCt>cAt p.P69H NM_152670.2 NP_689883.1 testis expressed 37 p.P69H(1) GATGGGTACCCTGCTTTCAAA 0.547000 8 67 0.00448238 0.00518158 0.004482 1 0 USH2A 7399 broad.mit.edu 37 1 216040371 216040371 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:216040371G>A ENST00000366943.2 - 44 9209 c.8823C>T c.(8821-8823)atC>atT p.I2941I USH2A_ENST00000307340.3_Silent_p.I2941I O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2941 Fibronectin type-III 16. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.I2941I(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACCTCACGTCGATGGCTGTGT 0.453000 HNSCC(13;0.011) 9 102 0 0 0.001855 0 0 KDM4D 55693 broad.mit.edu 37 11 94731487 94731487 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:94731487G>T ENST00000335080.5 + 3 1783 c.951G>T c.(949-951)gtG>gtT p.V317V KDM4D_ENST00000536741.1_Silent_p.V317V NM_018039.2 NP_060509.2 Q6B0I6 KDM4D_HUMAN lysine (K)-specific demethylase 4D 317 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.V317V(1) endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 AGGCAAGGGTGACCTTTTCCA 0.552000 17 79 3.45872e-05 4.36614e-05 0.004007 1 0 KANK4 163782 broad.mit.edu 37 1 62740301 62740301 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:62740301G>C ENST00000371153.4 - 3 853 c.475C>G c.(475-477)Ctc>Gtc p.L159V KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 159 p.L159V(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 GCTCTCAAGAGCTGGGGCCGT 0.652000 5 31 0 0 0.001168 0 0 ZC3H6 376940 broad.mit.edu 37 2 113069485 113069485 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:113069485G>A ENST00000409871.1 + 5 1119 c.718G>A c.(718-720)Gtg>Atg p.V240M ZC3H6_ENST00000343936.4_Missense_Mutation_p.V240M NM_198581.2 NP_940983.2 P61129 ZC3H6_HUMAN zinc finger CCCH-type containing 6 240 nucleic acid binding|zinc ion binding p.V240M(1) central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2) 35 AGGGCCTAATGTGTTTTCAGT 0.383000 5 58 0 0 0.000602 0 0 CDK14 5218 broad.mit.edu 37 7 90377056 90377056 + Nonsense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:90377056G>T ENST00000406263.1 + 3 734 c.292G>T c.(292-294)Gga>Tga p.G98* CDK14_ENST00000436577.2_Intron|CDK14_ENST00000380050.3_Nonsense_Mutation_p.G144*|CDK14_ENST00000265741.3_Nonsense_Mutation_p.G126* O94921 CDK14_HUMAN cyclin-dependent kinase 14 144 cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity p.G144*(1)|p.G126*(1) breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4) 32 ACTAGGGGAAGGATCTTATGC 0.348000 15 232 4.96729e-08 7.08394e-08 0.008871 1 0 NXNL1 115861 broad.mit.edu 37 19 17571646 17571646 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:17571646G>T ENST00000301944.2 - 1 117 c.33C>A c.(31-33)atC>atA p.I11I NM_138454.1 NP_612463.1 Q96CM4 NXNL1_HUMAN nucleoredoxin-like 1 11 Thioredoxin. cell redox homeostasis nuclear outer membrane p.I11I(1) central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 6 TATTGTTGCGGATCAGGATGC 0.637000 19 48 0.000132079 0.000162288 0.008871 1 0 SCN2A 6326 broad.mit.edu 37 2 166172034 166172034 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:166172034G>T ENST00000357398.3 + 11 1727 c.1437G>T c.(1435-1437)ggG>ggT p.G479G SCN2A_ENST00000283256.6_Silent_p.G479G|SCN2A_ENST00000375427.2_Silent_p.G479G|SCN2A_ENST00000375437.2_Silent_p.G479G Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 479 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity p.G479G(2) NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GTGCTGGTGGGATAGGAGTTT 0.418000 7 114 1.06961e-07 1.50599e-07 0.003080 1 0 MAGEA3 4102 broad.mit.edu 37 X 151935453 151935453 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:151935453G>T ENST00000393902.3 - 3 1281 c.714C>A c.(712-714)atC>atA p.I238I MAGEA3_ENST00000370278.3_Silent_p.I238I P43357 MAGA3_HUMAN melanoma antigen family A, 3 238 MAGE. p.I238I(1) endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) GATCCCCCAAGATACTGTCTT 0.542000 72 104 2.94884e-30 5.79985e-30 0.003610 1 0 CNTNAP4 85445 broad.mit.edu 37 16 76569506 76569506 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:76569506G>T ENST00000307431.8 + 19 3202 c.2817G>T c.(2815-2817)atG>atT p.M939I CNTNAP4_ENST00000377504.4_Missense_Mutation_p.M891I|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.M943I|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.M867I|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 940 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding p.M939I(1)|p.M867I(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TGAATGGGATGACCCTGGATT 0.517000 12 74 9.31168e-06 1.20667e-05 0.001855 1 0 MIR1261 100302228 broad.mit.edu 37 11 90602343 90602343 + RNA SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:90602343C>A ENST00000408659.1 - 0 27 NR_031663.1 ccacaatatccccataagcca 0.423000 6 28 3.59834e-05 4.50131e-05 0.001168 1 0 ABCC9 10060 broad.mit.edu 37 12 21971084 21971084 + Splice_Site SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:21971084C>A ENST00000261200.4 - 30 3770 c.3771_splice c.e30+1 p.T1257_splice ABCC9_ENST00000261201.4_Splice_Site_p.T1257_splice|ABCC9_ENST00000345162.2_Splice_Site_p.T1221_splice NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1257 ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity p.T1257T(2) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CCATACCTACCGTAAGTGCAT 0.418000 52 126 2.41709e-19 4.39471e-19 0.003610 1 0 SLC38A8 146167 broad.mit.edu 37 16 84070307 84070307 + Splice_Site SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:84070307G>T ENST00000299709.3 - 2 387 c.388_splice c.e2+1 p.L130_splice NM_001080442.1 NP_001073911.1 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 130 amino acid transport|sodium ion transport integral to membrane p.L130M(1) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 AGGTACTTACGCTTCTCCAGC 0.622000 5 30 1.23904e-05 1.58704e-05 0.000602 1 0 PIK3IP1 113791 broad.mit.edu 37 22 31688260 31688260 + Splice_Site SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:31688260C>T ENST00000215912.5 - 1 254 c.e1+1 PIK3IP1_ENST00000402249.3_Splice_Site|PIK3IP1_ENST00000441972.1_Splice_Site|PIK3IP1_ENST00000487265.2_Splice_Site NM_052880.4 NP_443112.2 Q96FE7 P3IP1_HUMAN phosphoinositide-3-kinase interacting protein 1 integral to membrane p.?(1) large_intestine(2)|lung(1)|ovary(1) 4 TGTAATCTCACCTCCAGATCC 0.502000 OREG0026478 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 91 0 0 0.004482 0 0 ERC2 26059 broad.mit.edu 37 3 56468700 56468700 + Silent SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:56468700T>A ENST00000288221.6 - 2 591 c.336A>T c.(334-336)acA>acT p.T112T NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 112 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding p.T112T(2) breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) AAAGGACATCTGTGTGGGAAA 0.522000 19 170 0 0 0.006122 0 0 HTR5A 3361 broad.mit.edu 37 7 154876005 154876005 + Missense_Mutation SNP C C A rs145653373 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:154876005C>A ENST00000287907.2 + 2 1458 c.882C>A c.(880-882)ttC>ttA p.F294L HTR5A_ENST00000486819.1_3'UTR NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 294 integral to plasma membrane serotonin receptor activity p.F294L(1) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) TTGGCGTGTTCGTGCTCTGCT 0.622000 34 111 8.4185e-14 1.41159e-13 0.002445 1 0 DIP2A 23181 broad.mit.edu 37 21 47977571 47977571 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr21:47977571G>A ENST00000318711.7 + 31 3889 c.3706G>A c.(3706-3708)Gcc>Acc p.A1236T DIP2A_ENST00000400274.1_Missense_Mutation_p.A1231T|DIP2A_ENST00000417564.2_Missense_Mutation_p.A1235T NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 1235 multicellular organismal development nucleus catalytic activity|transcription factor binding p.A1235T(1)|p.A1236T(1) cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GTGGCTGTCGGCCGTCAGCCA 0.632000 9 26 0 0 0.004482 0 0 SEMA3D 223117 broad.mit.edu 37 7 84697561 84697561 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:84697561C>T ENST00000284136.6 - 5 578 c.535G>A c.(535-537)Ggc>Agc p.G179S SEMA3D_ENST00000444867.1_Missense_Mutation_p.G179S NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 179 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity p.G179S(1) NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 TTCAGTCTGCCAGACTCCAAA 0.333000 9 84 0 0 0.004482 0 0 TIMELESS 8914 broad.mit.edu 37 12 56823998 56823998 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:56823998C>T ENST00000229201.4 - 10 1128 c.974G>A c.(973-975)cGa>cAa p.R325Q TIMELESS_ENST00000554616.1_Missense_Mutation_p.R326Q|TIMELESS_ENST00000553532.1_Missense_Mutation_p.R326Q NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 326 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 GGACAGCTCTCGGGCGGCCTG 0.537000 7 54 0 0 0.006214 0 0 MAP4K1 11184 broad.mit.edu 37 19 39103297 39103297 + Nonsense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:39103297C>A ENST00000591517.1 - 9 647 c.619G>T c.(619-621)Gaa>Taa p.E207* MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000396857.2_Nonsense_Mutation_p.E207*|MAP4K1_ENST00000586296.1_Nonsense_Mutation_p.E207*|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000589130.1_Nonsense_Mutation_p.E203* NM_007181.4 NP_009112.1 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase kinase 1 207 Protein kinase. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity p.E207K(2)|p.E207*(2) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCGGCCAGTTCGATGGCCGTG 0.627000 42 30 2.51966e-14 4.268e-14 0.003610 1 0 CDC14A 8556 broad.mit.edu 37 1 100889851 100889851 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:100889851C>T ENST00000370125.2 + 5 871 c.383C>T c.(382-384)cCa>cTa p.P128L CDC14A_ENST00000542213.1_Missense_Mutation_p.P70L|CDC14A_ENST00000370124.3_Missense_Mutation_p.P128L|CDC14A_ENST00000361544.6_Missense_Mutation_p.P128L|CDC14A_ENST00000544534.1_Missense_Mutation_p.P128L|CDC14A_ENST00000336454.3_Missense_Mutation_p.P128L|CDC14A_ENST00000469387.1_3'UTR Q9UNH5 CC14A_HUMAN cell division cycle 14A 128 A. cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.P128L(1) breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1) 31 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) CCCTATCTTCCATTCAGGTAT 0.388000 15 64 0 0 0.004007 0 0 BHLHE40 8553 broad.mit.edu 37 3 5025075 5025075 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:5025075G>T ENST00000256495.3 + 5 1540 c.937G>T c.(937-939)Ggc>Tgc p.G313C NM_003670.2 NP_003661.1 O14503 BHE40_HUMAN basic helix-loop-helix family, member e40 313 Golgi apparatus|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.G313C(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2) 12 CCCGTTCCTGGGCCCACACCC 0.572000 9 65 7.48243e-07 1.01312e-06 0.006214 1 0 PCDHGB7 56099 broad.mit.edu 37 5 140799740 140799740 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:140799740G>C ENST00000398594.2 + 1 2314 c.2314G>C c.(2314-2316)Gat>Cat p.D772H PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron NM_018927.3 NP_061750.1 p.D772H(1) central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACATCTGTTGATCATTGTCC 0.418000 9 55 0 0 0.006214 0 0 OTOGL 283310 broad.mit.edu 37 12 80722873 80722873 + Missense_Mutation SNP C C A rs143101932 by1000genomes TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:80722873C>A ENST00000458043.2 + 36 4301 c.4295C>A c.(4294-4296)gCt>gAt p.A1432D OTOGL_ENST00000547103.1_Missense_Mutation_p.A1432D NM_173591.3 NP_775862.3 otogelin-like p.A1432D(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 ATGCCACCAGCTAAGCCAACT 0.343000 7 7 0.00307968 0.00358504 0.003080 1 0 HSPG2 3339 broad.mit.edu 37 1 22222419 22222419 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:22222419C>T ENST00000374695.3 - 3 319 c.240G>A c.(238-240)caG>caA p.Q80Q NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 80 SEA. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding p.Q80Q(1) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) ACTTACCCATCTGGAAGTCCC 0.582000 6 39 0 0 0.003080 0 0 NFIC 4782 broad.mit.edu 37 19 3381733 3381733 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:3381733G>T ENST00000589123.1 + 2 147 c.27G>T c.(25-27)gaG>gaT p.E9D NFIC_ENST00000586919.1_Missense_Mutation_p.E9D|NFIC_ENST00000395111.3_Missense_Mutation_p.E9D|NFIC_ENST00000346156.5_Missense_Mutation_p.E9D|NFIC_ENST00000590282.1_Missense_Mutation_p.E18D|NFIC_ENST00000341919.3_Missense_Mutation_p.E18D|NFIC_ENST00000443272.2_Missense_Mutation_p.E18D NM_001245005.1|NM_205843.2 NP_001231934.1|NP_995315.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 18 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.E9D(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) CGTTCATCGAGGCCCTGCTGC 0.657000 12 24 2.68362e-12 4.3504e-12 0.001368 1 0 LRP1B 53353 broad.mit.edu 37 2 141747099 141747099 + Splice_Site SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:141747099A>T ENST00000389484.3 - 17 3742 c.e17+1 NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.?(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GCAAACCTTTACCTGTGCAAG 0.388000 TSP Lung(27;0.18) 44 92 0 0 0.003610 0 0 DISC1 27185 broad.mit.edu 37 1 231902942 231902942 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:231902942C>G ENST00000439617.2 + 5 1378 c.1325C>G c.(1324-1326)cCc>cGc p.P442R DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.P442R|DISC1_ENST00000535983.1_Missense_Mutation_p.P442R|DISC1_ENST00000539444.1_Missense_Mutation_p.P442R|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602873.1_Missense_Mutation_p.P92R|DISC1_ENST00000537876.1_Missense_Mutation_p.P442R|DISC1_ENST00000366633.3_Missense_Mutation_p.P442R|DISC1_ENST00000602281.1_Missense_Mutation_p.P442R NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 442 Interaction with TRAF3IP1.|Required for localization to punctate cytoplasmic foci. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) CTGTTGGAACCCACTGCTCAG 0.517000 5 92 0 0 0.000602 0 0 VAV3 10451 broad.mit.edu 37 1 108315437 108315437 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:108315437G>C ENST00000370056.4 - 5 749 c.475C>G c.(475-477)Ctc>Gtc p.L159V VAV3_ENST00000371846.4_Missense_Mutation_p.L94V|VAV3_ENST00000527011.1_Missense_Mutation_p.L159V|VAV3_ENST00000343258.4_5'UTR NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 159 angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity p.L159V(1) NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) CAGTCATAGAGATCTTCTTCA 0.388000 17 74 0 0 0.004007 0 0 OR10G8 219869 broad.mit.edu 37 11 123901089 123901089 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:123901089G>C ENST00000431524.1 + 1 793 c.760G>C c.(760-762)Ggt>Cgt p.G254R NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 254 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G254R(1) breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CTTTGGCCCTGGTCTTTTCAT 0.552000 34 117 0 0 0.003271 0 0 SEC31A 22872 broad.mit.edu 37 4 83748691 83748691 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:83748691G>A ENST00000432794.1 - 25 3324 c.3161C>T c.(3160-3162)tCa>tTa p.S1054L SEC31A_ENST00000508502.1_Missense_Mutation_p.S1026L|SEC31A_ENST00000355196.2_Missense_Mutation_p.S1041L|SEC31A_ENST00000264405.5_Missense_Mutation_p.S790L|SEC31A_ENST00000505984.1_Missense_Mutation_p.S987L|SEC31A_ENST00000513858.1_Missense_Mutation_p.S888L|SEC31A_ENST00000500777.2_Missense_Mutation_p.S888L|SEC31A_ENST00000326950.5_Missense_Mutation_p.S1002L|SEC31A_ENST00000505472.1_Missense_Mutation_p.S1072L|SEC31A_ENST00000348405.4_Missense_Mutation_p.S1002L|SEC31A_ENST00000448323.1_Missense_Mutation_p.S1041L|SEC31A_ENST00000311785.7_Missense_Mutation_p.S927L|SEC31A_ENST00000509142.1_Missense_Mutation_p.S927L|SEC31A_ENST00000395310.2_Missense_Mutation_p.S1041L|SEC31A_ENST00000443462.2_Missense_Mutation_p.S1021L O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 1041 Interaction with PDCD6.|Pro-rich. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding p.S1041L(1)|p.S1054L(1) SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) TACTGGAGCTGAAGGCTGTTG 0.532000 13 166 0 0 0.001855 0 0 LIPN 643418 broad.mit.edu 37 10 90537778 90537778 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:90537778A>T ENST00000404459.1 + 9 976 c.976A>T c.(976-978)Ata>Tta p.I326L NM_001102469.1 NP_001095939.1 Q5VXI9 LIPN_HUMAN lipase, family member N 326 lipid catabolic process extracellular region hydrolase activity p.I326L(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1) 9 Colorectal(252;0.0161) Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05) TCATCCCCCTATATATGACCT 0.488000 8 44 0 0 0.003080 0 0 OR4D2 124538 broad.mit.edu 37 17 56247902 56247902 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:56247902G>A ENST00000545221.1 + 1 886 c.886G>A c.(886-888)Gca>Aca p.A296T NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A296T(1) breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 GGACATGCAGGCAGCAGTGAG 0.512000 14 105 0 0 0.002450 0 0 CCDC149 91050 broad.mit.edu 37 4 24838915 24838915 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:24838915C>A ENST00000504487.1 - 6 603 c.597G>T c.(595-597)ctG>ctT p.L199L CCDC149_ENST00000502801.1_Intron|CCDC149_ENST00000389609.4_Silent_p.L199L|CCDC149_ENST00000428116.2_Intron NM_001130726.2 NP_001124198.1 B4DZG3 B4DZG3_HUMAN coiled-coil domain containing 149 199 p.L199L(1)|p.L144L(1) cervix(1)|endometrium(1)|large_intestine(2)|lung(3) 7 Breast(46;0.173) GGATATGGTTCAGCTCCTGGT 0.572000 10 32 7.48243e-07 1.01312e-06 0.006214 1 0 TRIML2 205860 broad.mit.edu 37 4 189012860 189012860 + Silent SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:189012860C>G ENST00000512729.1 - 7 1205 c.831G>C c.(829-831)gcG>gcC p.A277A TRIML2_ENST00000326754.3_Silent_p.A302A NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 277 B30.2/SPRY. ligase activity p.A277A(1) central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) TGCTGCCCTTCGCGTCTGCAG 0.617000 19 175 0 0 0.008871 0 0 C16orf46 123775 broad.mit.edu 37 16 81097426 81097426 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:81097426G>A ENST00000378611.4 - 2 250 c.135C>T c.(133-135)ctC>ctT p.L45L C16orf46_ENST00000444657.3_Intron|C16orf46_ENST00000299578.5_Silent_p.L45L|RP11-303E16.8_ENST00000564536.1_RNA NM_001100873.1 NP_001094343.1 Q6P387 CP046_HUMAN chromosome 16 open reading frame 46 45 p.L45L(2) NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1) 18 CACTGACATCGAGAAGACAAT 0.358000 21 107 0 0 0.002299 0 0 RFC4 5984 broad.mit.edu 37 3 186515344 186515344 + Silent SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:186515344T>A ENST00000392481.2 - 4 551 c.270A>T c.(268-270)gcA>gcT p.A90A RFC4_ENST00000433496.1_Silent_p.A90A|RFC4_ENST00000296273.2_Silent_p.A90A NM_181573.2 NP_853551.1 P35249 RFC4_HUMAN replication factor C (activator 1) 4, 37kDa 90 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding p.A90A(1) breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) CTCTAGCTGCTGCCAAAATAG 0.323000 18 105 0 0 0.001523 0 0 MAB21L1 4081 broad.mit.edu 37 13 36049377 36049377 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:36049377A>G ENST00000379919.4 - 1 1455 c.899T>C c.(898-900)cTg>cCg p.L300P NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron NM_005584.4 NP_005575.1 Q13394 MB211_HUMAN mab-21-like 1 (C. elegans) 300 anatomical structure morphogenesis nucleus p.L300P(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 20 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) AATCCCGTTCAGCCGATCACC 0.517000 13 75 0 0 0.002450 0 0 GALNT5 11227 broad.mit.edu 37 2 158115854 158115854 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:158115854G>T ENST00000259056.4 + 1 1745 c.1260G>T c.(1258-1260)acG>acT p.T420T NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 420 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.T420T(1) breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 ACAGTGGAACGCACCAGGTGT 0.493000 11 51 9.70103e-10 1.48148e-09 0.008291 1 0 SLC2A9 56606 broad.mit.edu 37 4 10027569 10027569 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:10027569G>T ENST00000506583.1 - 3 239 c.22C>A c.(22-24)Cga>Aga p.R8R SLC2A9_ENST00000309065.3_Silent_p.R8R Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 0 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity p.R8R(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 TCTTCTCCTCGGTCCTTTTTA 0.393000 18 42 1.01871e-10 1.59534e-10 0.008871 1 0 STARD8 9754 broad.mit.edu 37 X 67937280 67937280 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:67937280C>A ENST00000252336.6 + 5 656 c.284C>A c.(283-285)cCa>cAa p.P95Q STARD8_ENST00000374599.3_Missense_Mutation_p.P175Q|STARD8_ENST00000374597.3_Missense_Mutation_p.P95Q NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 95 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity p.P95Q(2)|p.P175Q(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 TTGCCCTTGCCAGGCCGTGCC 0.657000 8 13 0.00307968 0.00358504 0.003080 1 0 SLC13A4 26266 broad.mit.edu 37 7 135392916 135392916 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:135392916A>T ENST00000354042.4 - 3 1000 c.311T>A c.(310-312)cTg>cAg p.L104Q AC091736.10_ENST00000378428.3_RNA NM_012450.2 NP_036582.2 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 4 104 integral to plasma membrane sodium:sulfate symporter activity p.L104Q(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 24 GCGCTTATGCAGGTTCCACTT 0.597000 11 155 0 0 0.000978 0 0 NDST4 64579 broad.mit.edu 37 4 115997603 115997603 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:115997603G>A ENST00000264363.2 - 2 1268 c.590C>T c.(589-591)cCt>cTt p.P197L NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 197 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity p.P197L(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AGGAGATTGAGGGTTAACAAA 0.393000 19 61 0 0 0.006122 0 0 MUSK 4593 broad.mit.edu 37 9 113562990 113562990 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:113562990C>A ENST00000416899.2 + 13 2434 c.2308C>A c.(2308-2310)Cgc>Agc p.R770S MUSK_ENST00000374448.4_Missense_Mutation_p.R778S|MUSK_ENST00000189978.5_Missense_Mutation_p.R778S O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 778 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.R778C(1)|p.R778S(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 TTTTTATAACCGCTACACTAC 0.512000 12 94 0.000151284 0.000185337 0.001855 1 0 TPTE 7179 broad.mit.edu 37 21 10941907 10941907 + Splice_Site SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr21:10941907C>T ENST00000298232.7 - 13 1109 c.e13+1 TPTE_ENST00000361285.4_Splice_Site|TPTE_ENST00000415664.2_Splice_Site|TPTE_ENST00000342420.5_Splice_Site NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.?(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAGACCCTTACCTTGATTGGA 0.313000 9 192 0 0 0.004482 0 0 CNDP1 84735 broad.mit.edu 37 18 72247446 72247446 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr18:72247446C>A ENST00000582365.1 + 9 1185 c.1119C>A c.(1117-1119)caC>caA p.H373Q CNDP1_ENST00000358821.3_Missense_Mutation_p.H416Q Q96KN2 CNDP1_HUMAN carnosine dipeptidase 1 (metallopeptidase M20 family) 416 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity p.H416Q(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) TAGGACTACACCCGTGGATTG 0.433000 9 21 7.48243e-07 1.01312e-06 0.006214 1 0 OR8H3 390152 broad.mit.edu 37 11 55890240 55890240 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:55890240A>T ENST00000313472.3 + 1 392 c.392A>T c.(391-393)cAc>cTc p.H131L NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H131L(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) AGTCCTCTACACTACACAGTT 0.463000 64 190 0 0 0.003610 0 0 MAP2 4133 broad.mit.edu 37 2 210558918 210558918 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:210558918G>T ENST00000360351.4 + 7 2530 c.2024G>T c.(2023-2025)aGt>aTt p.S675I MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.S671I|MAP2_ENST00000199940.6_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 675 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity p.S675I(1) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GACCTCCACAGTAAGAATAAG 0.413000 40 70 4.92203e-23 9.22185e-23 0.006230 1 0 ALPK3 57538 broad.mit.edu 37 15 85360091 85360091 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr15:85360091G>T ENST00000258888.5 + 1 181 c.14G>T c.(13-15)tGg>tTg p.W5L NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 5 heart development nucleus ATP binding|protein serine/threonine kinase activity p.W5L(2) NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) gaggTGGCTTGGCTTGTCTAT 0.607000 7 15 2.0095e-06 2.67503e-06 0.001984 1 0 SUMF2 25870 broad.mit.edu 37 7 56146138 56146138 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:56146138G>T ENST00000434526.2 + 8 846 c.815G>T c.(814-816)cGg>cTg p.R272L SUMF2_ENST00000437307.2_Missense_Mutation_p.R184L|SUMF2_ENST00000342190.6_Intron|SUMF2_ENST00000395436.2_Missense_Mutation_p.R257L|SUMF2_ENST00000395435.2_Missense_Mutation_p.R188L|SUMF2_ENST00000413756.1_Missense_Mutation_p.R253L|SUMF2_ENST00000275607.9_Missense_Mutation_p.R165L NM_001042469.1|NM_015411.2 NP_001035934.2|NP_056226.2 Q8NBJ7 SUMF2_HUMAN sulfatase modifying factor 2 253 endoplasmic reticulum lumen metal ion binding p.R253L(1) breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 14 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CGCGTCCTCCGGGGGGCATCC 0.662000 14 43 4.36969e-10 6.72884e-10 0.001855 1 0 ITGAL 3683 broad.mit.edu 37 16 30495236 30495236 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:30495236G>A ENST00000356798.6 + 8 991 c.811G>A c.(811-813)Ggc>Agc p.G271S ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.G188S|ITGAL_ENST00000454514.2_3'UTR|RP11-297C4.2_ENST00000569459.1_RNA NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 271 VWFA. blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity p.G271S(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) CACTGACAGTGGCAACATCGA 0.582000 29 161 0 0 0.002096 0 0 UGT2B4 7363 broad.mit.edu 37 4 70346556 70346556 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:70346556G>T ENST00000305107.6 - 6 1429 c.1383C>A c.(1381-1383)gtC>gtA p.V461V UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Silent_p.V325V|UGT2B4_ENST00000512583.1_3'UTR NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 461 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.V461V(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 CAATCCAGAAGACTGCTCGAT 0.438000 34 137 3.03874e-20 5.5554e-20 0.003271 1 0 CLK2 1196 broad.mit.edu 37 1 155233067 155233067 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:155233067C>A ENST00000368361.4 - 13 1757 c.1442G>T c.(1441-1443)cGc>cTc p.R481L CLK2_ENST00000361168.5_Missense_Mutation_p.R480L|CLK2_ENST00000355560.4_Missense_Mutation_p.R479L|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.R481L P49760 CLK2_HUMAN CDC-like kinase 2 481 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R481L(1) endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) AGCCCGAAGGCGGGCGAAGAA 0.567000 Other conserved DNA damage response genes 23 20 6.44725e-10 9.9005e-10 0.002299 1 0 CORIN 10699 broad.mit.edu 37 4 47663854 47663854 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:47663854T>C ENST00000273857.4 - 12 1608 c.1609A>G c.(1609-1611)Aaa>Gaa p.K537E CORIN_ENST00000505909.1_Missense_Mutation_p.K500E|CORIN_ENST00000502252.1_Missense_Mutation_p.K470E|CORIN_ENST00000508498.1_Missense_Mutation_p.K398E|CORIN_ENST00000504584.1_Missense_Mutation_p.K500E NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 537 FZ 2. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity p.K537E(1) NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 CAGCGTTCTTTAGAGTGTTCA 0.403000 5 36 0 0 0.001168 0 0 HOXD13 3239 broad.mit.edu 37 2 176958400 176958400 + Splice_Site SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:176958400G>T ENST00000392539.3 + 1 781 c.e1+1 NM_000523.3 NP_000514.2 P35453 HXD13_HUMAN homeobox D13 skeletal system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding p.?(2) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678) TCCTTTCCAGGTAGGGGCGAT 0.567000 T NUP98 AML* 10 39 1.76689e-08 2.56385e-08 0.006214 1 0 COQ9 57017 broad.mit.edu 37 16 57486813 57486813 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:57486813G>T ENST00000262507.6 + 3 412 c.343G>T c.(343-345)Ggg>Tgg p.G115W COQ9_ENST00000567072.1_Missense_Mutation_p.G115W|COQ9_ENST00000567933.1_Missense_Mutation_p.G115W NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 115 ubiquinone biosynthetic process mitochondrion p.G115W(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 GCCCGCCCACGGGTGGACAGC 0.602000 19 69 1.01871e-10 1.59534e-10 0.008871 1 0 PTPRC 5788 broad.mit.edu 37 1 198668730 198668730 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:198668730C>G ENST00000367376.2 + 5 501 c.330C>G c.(328-330)caC>caG p.H110Q PTPRC_ENST00000352140.3_Missense_Mutation_p.H110Q|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.H112Q NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 110 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity p.H110Q(1) breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TTCCCACGCACGCAGACTCGC 0.517000 OREG0014061 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 158 0 0 0.000978 0 0 PRSS23 11098 broad.mit.edu 37 11 86519409 86519409 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:86519409G>T ENST00000280258.5 + 2 1149 c.724G>T c.(724-726)Ggc>Tgc p.G242C PRSS23_ENST00000441050.1_Missense_Mutation_p.G210C|PRSS23_ENST00000533902.2_Intron NM_007173.4 NP_009104.1 O95084 PRS23_HUMAN protease, serine, 23 242 proteolysis extracellular region|nucleus serine-type endopeptidase activity p.G242C(1) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CAATGACATCGGCATGGATTA 0.522000 12 51 1.5842e-08 2.33136e-08 0.001855 1 0 TRPV5 56302 broad.mit.edu 37 7 142626598 142626598 + Missense_Mutation SNP T T G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:142626598T>G ENST00000265310.1 - 4 760 c.412A>C c.(412-414)Acc>Ccc p.T138P TRPV5_ENST00000442623.1_Missense_Mutation_p.T138P NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 138 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity p.T138P(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) GCCCTGCGGGTGAGCAGGGCA 0.602000 23 81 0 0 0.004656 0 0 CD96 10225 broad.mit.edu 37 3 111342670 111342670 + Splice_Site SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:111342670G>T ENST00000352690.4 + 9 1489 c.e9+1 CD96_ENST00000283285.5_Splice_Site NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule cell adhesion|immune response|regulation of immune response integral to plasma membrane p.?(1) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 ACTCCTCAACGTGAGTTCAGC 0.383000 Opitz Trigonocephaly syndrome 8 46 0.000274275 0.000330884 0.004482 1 0 TSHZ2 128553 broad.mit.edu 37 20 51870809 51870809 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:51870809C>A ENST00000371497.5 + 2 1699 c.812C>A c.(811-813)gCt>gAt p.A271D TSHZ2_ENST00000329613.6_Missense_Mutation_p.A268D|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A268D NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 271 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A271D(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) AAAGAGGATGCTCAAAAGGTT 0.438000 13 29 1.49906e-05 1.90978e-05 0.002450 1 0 CXCL12 6387 broad.mit.edu 37 10 44871442 44871442 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:44871442A>G ENST00000374426.2 - 4 342 c.305T>C c.(304-306)aTa>aCa p.I102T CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000374429.2_Intron NM_001033886.2 NP_001029058.1 P48061 SDF1_HUMAN chemokine (C-X-C motif) ligand 12 0 blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus extracellular space chemokine activity|growth factor activity|signal transducer activity p.I102T(1) endometrium(1)|large_intestine(1)|lung(3)|skin(1) 6 Dexamethasone(DB01234) CTTTTTTCCTATCTTTTCTTT 0.413000 8 145 0 0 0.004482 0 0 SPTA1 6708 broad.mit.edu 37 1 158596725 158596725 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:158596725G>A ENST00000368148.3 - 41 5917 c.5737C>T c.(5737-5739)Ctg>Ttg p.L1913L SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Silent_p.L1910L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1913 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.L1913L(2) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GCCTTAGCCAGAGAAGGGGTC 0.438000 22 277 0 0 0.002780 0 0 HSF5 124535 broad.mit.edu 37 17 56557394 56557394 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:56557394G>A ENST00000323777.3 - 2 894 c.785C>T c.(784-786)cCa>cTa p.P262L NM_001080439.1 NP_001073908.1 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 262 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P262L(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) AACCTCAGTTGGAAACCTCTG 0.463000 14 208 0 0 0.001855 0 0 COL9A2 1298 broad.mit.edu 37 1 40776820 40776820 + Splice_Site SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:40776820T>A ENST00000372748.3 - 12 673 c.e12-2 NM_001852.3 NP_001843.1 Q14055 CO9A2_HUMAN collagen, type IX, alpha 2 axon guidance|skeletal system development collagen type IX p.?(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) CGCATGCCCCTGAAGGGAAGG 0.622000 14 39 0 0 0.004007 0 0 TTC21A 199223 broad.mit.edu 37 3 39170265 39170265 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:39170265G>T ENST00000301819.6 + 14 1939 c.1762G>T c.(1762-1764)Gac>Tac p.D588Y TTC21A_ENST00000431162.2_Missense_Mutation_p.D587Y|TTC21A_ENST00000440121.1_Missense_Mutation_p.D539Y NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 587 binding p.D588Y(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CAAGGCTGGAGACTATCCAGA 0.552000 45 118 2.56662e-36 5.11475e-36 0.003214 1 0 PTK7 5754 broad.mit.edu 37 6 43109784 43109784 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:43109784G>C ENST00000230419.4 + 12 2105 c.1884G>C c.(1882-1884)aaG>aaC p.K628N PTK7_ENST00000481273.1_Missense_Mutation_p.K636N|PTK7_ENST00000349241.2_Missense_Mutation_p.K498N|PTK7_ENST00000352931.2_Intron|PTK7_ENST00000345201.2_Missense_Mutation_p.K588N NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 628 Ig-like C2-type 7. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.K628N(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) GGAAAGGCAAGGACCGCATCC 0.662000 13 23 0 0 0.001855 0 0 MORC2 22880 broad.mit.edu 37 22 31342403 31342403 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:31342403C>A ENST00000215862.4 - 7 1528 c.165G>T c.(163-165)ctG>ctT p.L55L MORC2_ENST00000397641.2_Silent_p.L117L NM_014941.1 NP_055756.1 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 117 ATP binding|zinc ion binding p.L55L(1) breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 TCTTGGTGAACAGGATAAAAT 0.463000 44 172 3.86236e-30 7.57863e-30 0.003610 1 0 ZNF521 25925 broad.mit.edu 37 18 22807426 22807426 + Missense_Mutation SNP A A C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr18:22807426A>C ENST00000361524.3 - 4 604 c.456T>G c.(454-456)agT>agG p.S152R ZNF521_ENST00000538137.2_Missense_Mutation_p.S152R|ZNF521_ENST00000584787.1_5'UTR NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 152 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding p.S152R(1) NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TGAACAGCCTACTGCAGTAGG 0.498000 T PAX5 ALL 30 115 0 0 0.001786 0 0 SPACA1 81833 broad.mit.edu 37 6 88773879 88773879 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:88773879A>G ENST00000237201.1 + 6 790 c.673A>G c.(673-675)Ata>Gta p.I225V SPACA1_ENST00000462690.1_Intron NM_030960.2 NP_112222.1 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 225 integral to membrane p.I225V(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) TGTGCTGACCATAGGAGTCAT 0.368000 6 99 0 0 0.001168 0 0 EED 8726 broad.mit.edu 37 11 85979601 85979601 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:85979601A>G ENST00000263360.6 + 9 1650 c.964A>G c.(964-966)Aag>Gag p.K322E EED_ENST00000351625.6_Missense_Mutation_p.K322E|EED_ENST00000327320.4_Missense_Mutation_p.K322E|EED_ENST00000528180.1_Intron NM_003797.3 NP_003788.2 O75530 EED_HUMAN embryonic ectoderm development 322 Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding p.K322E(1) haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 21 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) GATACTTTCTAAGGTATGGTA 0.408000 20 94 0 0 0.001882 0 0 NLRP3 114548 broad.mit.edu 37 1 247587718 247587718 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:247587718G>A ENST00000366497.2 + 4 1753 c.973G>A c.(973-975)Gcc>Acc p.A325T NLRP3_ENST00000336119.3_Missense_Mutation_p.A325T|NLRP3_ENST00000391828.3_Missense_Mutation_p.A325T|NLRP3_ENST00000391827.2_Missense_Mutation_p.A325T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.A325T|NLRP3_ENST00000348069.2_Missense_Mutation_p.A325T NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 325 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.A325T(1) NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CTGGCAGAAGGCCGAGCGGGG 0.572000 5 105 0 0 0.001168 0 0 HMCN1 83872 broad.mit.edu 37 1 186031015 186031015 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:186031015A>G ENST00000271588.4 + 47 7574 c.7345A>G c.(7345-7347)Atg>Gtg p.M2449V HMCN1_ENST00000367492.2_Missense_Mutation_p.M2449V NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2449 Ig-like C2-type 22. response to stimulus|visual perception basement membrane calcium ion binding p.M2449V(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GCAGACCACAATGGAAGATGC 0.383000 18 105 0 0 0.008871 0 0 CWF19L2 143884 broad.mit.edu 37 11 107224348 107224348 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:107224348C>A ENST00000282251.5 - 13 2014 c.1987G>T c.(1987-1989)Gct>Tct p.A663S CWF19L2_ENST00000433523.1_Missense_Mutation_p.A663S NM_152434.2 NP_689647.2 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control (S. pombe) 663 catalytic activity p.A663S(1)|p.A509S(1) endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) CGATGCTCAGCAATAGCTTTT 0.418000 39 73 1.30998e-17 2.34582e-17 0.005524 1 0 PDZRN3 23024 broad.mit.edu 37 3 73433421 73433421 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:73433421T>A ENST00000263666.4 - 10 2410 c.2296A>T c.(2296-2298)Agc>Tgc p.S766C PDZRN3_ENST00000479530.1_Missense_Mutation_p.S483C|PDZRN3_ENST00000535920.1_Missense_Mutation_p.S488C|PDZRN3_ENST00000466780.1_Missense_Mutation_p.S423C|PDZRN3_ENST00000462146.2_Missense_Mutation_p.S423C NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 766 ubiquitin-protein ligase activity|zinc ion binding p.S766C(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) AGCGGGGTGCTGCGGCAGCTC 0.647000 6 40 0 0 0.001984 0 0 LRRTM4 80059 broad.mit.edu 37 2 77745707 77745707 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:77745707C>A ENST00000409088.3 - 3 1702 c.1288G>T c.(1288-1290)Gtg>Ttg p.V430L LRRTM4_ENST00000409282.1_Missense_Mutation_p.V431L|LRRTM4_ENST00000409911.1_Missense_Mutation_p.V431L|LRRTM4_ENST00000409093.1_Missense_Mutation_p.V430L|LRRTM4_ENST00000409884.1_Missense_Mutation_p.V430L NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 430 integral to membrane p.V430L(2) autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) AAGAGAGCCACACTCCCGGCA 0.478000 21 56 2.37509e-13 3.93871e-13 0.001523 1 0 SEMA3D 223117 broad.mit.edu 37 7 84685079 84685079 + Missense_Mutation SNP C C A rs150804633 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:84685079C>A ENST00000284136.6 - 7 858 c.815G>T c.(814-816)aGt>aTt p.S272I SEMA3D_ENST00000444867.1_Missense_Mutation_p.S272I NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 272 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 ATCGGAGGTACTGCCTTCTTG 0.294000 14 72 3.45872e-05 4.36614e-05 0.004007 1 0 SORL1 6653 broad.mit.edu 37 11 121495847 121495847 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:121495847G>T ENST00000260197.7 + 46 6354 c.6225G>T c.(6223-6225)ggG>ggT p.G2075G SORL1_ENST00000527934.1_Silent_p.G690G|SORL1_ENST00000525532.1_Silent_p.G1019G|SORL1_ENST00000532694.1_Silent_p.G921G|SORL1_ENST00000534286.1_Silent_p.G985G NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 2075 Fibronectin type-III 6. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity p.G2075G(1) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CTTACCTTGGGAATACTACTG 0.398000 40 122 2.95478e-19 5.36644e-19 0.008740 1 0 TRPM5 29850 broad.mit.edu 37 11 2432703 2432703 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:2432703G>A ENST00000452833.1 - 18 2675 c.2667C>T c.(2665-2667)taC>taT p.Y889Y TRPM5_ENST00000528453.1_Silent_p.Y887Y|TRPM5_ENST00000155858.6_Silent_p.Y887Y|TRPM5_ENST00000533060.1_Silent_p.Y887Y Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 887 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity p.Y887Y(1) breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) TGGTGACACCGTAGGCCACGA 0.652000 17 35 0 0 0.006122 0 0 SULT4A1 25830 broad.mit.edu 37 22 44237804 44237804 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:44237804A>T ENST00000330884.4 - 2 298 c.178T>A c.(178-180)Ttg>Atg p.L60M SULT4A1_ENST00000249130.5_Missense_Mutation_p.L60M|SULT4A1_ENST00000540422.1_Intron NM_014351.3 NP_055166.1 Q9BR01 ST4A1_HUMAN sulfotransferase family 4A, member 1 60 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol sulfotransferase activity p.L60M(1) kidney(1)|large_intestine(3)|lung(4)|ovary(1) 9 Ovarian(80;0.024)|all_neural(38;0.0416) Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419) TCCTGCAGCAAGCTGGTGCCT 0.667000 8 42 0 0 0.004482 0 0 EXOC1 55763 broad.mit.edu 37 4 56726659 56726659 + Silent SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:56726659A>G ENST00000381295.2 + 3 555 c.207A>G c.(205-207)gcA>gcG p.A69A EXOC1_ENST00000349598.6_Silent_p.A69A|EXOC1_ENST00000346134.7_Silent_p.A69A NM_001024924.1 NP_001020095.1 Q9NV70 EXOC1_HUMAN exocyst complex component 1 69 exocytosis|protein transport exocyst protein binding p.A69A(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 35 Glioma(25;0.08)|all_neural(26;0.101) GGCAGATTGCATGGGCCCTTC 0.428000 18 77 0 0 0.001523 0 0 CNOT4 4850 broad.mit.edu 37 7 135106985 135106985 + Nonsense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:135106985T>A ENST00000428680.2 - 3 571 c.292A>T c.(292-294)Aaa>Taa p.K98* CNOT4_ENST00000423368.2_Nonsense_Mutation_p.K98*|CNOT4_ENST00000356162.4_Nonsense_Mutation_p.K98*|CNOT4_ENST00000414802.1_Nonsense_Mutation_p.K98*|CNOT4_ENST00000451834.1_Nonsense_Mutation_p.K98*|CNOT4_ENST00000315544.5_Nonsense_Mutation_p.K98*|CNOT4_ENST00000361528.4_Nonsense_Mutation_p.K98*|CNOT4_ENST00000541284.1_Nonsense_Mutation_p.K98* NM_001008225.2 NP_001008226.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 98 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding p.K98*(4) autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 GCCAAATGTTTGCGATTTTCT 0.388000 33 99 0 0 0.004289 0 0 SCN4A 6329 broad.mit.edu 37 17 62025346 62025346 + Nonsense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:62025346G>T ENST00000578147.1 - 17 3298 c.3222C>A c.(3220-3222)taC>taA p.Y1074* SCN4A_ENST00000435607.1_Nonsense_Mutation_p.Y1074* P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1074 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.Y1074*(1) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) TGATGAAGATGTAGGTGAAGA 0.547000 23 23 3.8784e-16 6.79847e-16 0.001882 1 0 IGHV3OR16-9 28307 broad.mit.edu 37 16 32077466 32077466 + RNA SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:32077466C>T ENST00000354689.6 + 0 81 RP11-1166P10.6_ENST00000566806.1_RNA CCTCTGGATTCACCTTCAGTA 0.562000 36 276 0 0 0.004289 0 0 COL6A3 1293 broad.mit.edu 37 2 238275663 238275663 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:238275663G>T ENST00000295550.4 - 11 5619 c.5167C>A c.(5167-5169)Ctt>Att p.L1723I COL6A3_ENST00000472056.1_Missense_Mutation_p.L1116I|COL6A3_ENST00000409809.1_Missense_Mutation_p.L1517I|COL6A3_ENST00000353578.4_Missense_Mutation_p.L1517I|COL6A3_ENST00000347401.3_Missense_Mutation_p.L1522I|COL6A3_ENST00000346358.4_Missense_Mutation_p.L1523I NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1723 Nonhelical region.|VWFA 9. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.L1723I(1) breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AGGTGCTCAAGGCCCACCTTA 0.547000 7 53 5.18039e-06 6.77656e-06 0.003080 1 0 HCRTR2 3062 broad.mit.edu 37 6 55145222 55145222 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:55145222T>A ENST00000370862.3 + 6 1421 c.1085T>A c.(1084-1086)aTt>aAt p.I362N NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 362 feeding behavior integral to plasma membrane neuropeptide receptor activity p.I362N(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GCGAATCCAATTATTTATAAT 0.388000 34 68 0 0 0.002445 0 0 PXDNL 137902 broad.mit.edu 37 8 52232456 52232456 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:52232456G>T ENST00000356297.4 - 23 4487 c.4387C>A c.(4387-4389)Cgc>Agc p.R1463S PXDNL_ENST00000543296.1_3'UTR|RP11-401H2.1_ENST00000521294.1_RNA NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1463 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.R1463S(1) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TTTTATTAGCGCTTCTCTGGG 0.458000 6 36 0.00198382 0.00231911 0.001984 1 0 ADAM21P1 145241 broad.mit.edu 37 14 70713178 70713178 + RNA SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:70713178C>T ENST00000530196.1 - 0 1340 NR_003951.1 AGATTTCCCCCAATCTTGGAG 0.448000 31 52 0 0 0.002096 0 0 GPR133 283383 broad.mit.edu 37 12 131605422 131605422 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:131605422C>T ENST00000261654.5 + 20 2698 c.2139C>T c.(2137-2139)atC>atT p.I713I GPR133_ENST00000543617.1_Silent_p.I232I|GPR133_ENST00000376682.4_Silent_p.I399I|GPR133_ENST00000535015.1_Silent_p.I745I NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 713 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.I713I(1) NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GTGGCGCCATCTGGGCCTTTG 0.612000 15 114 0 0 0.003163 0 0 PRKD2 25865 broad.mit.edu 37 19 47195022 47195022 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:47195022C>A ENST00000433867.1 - 13 2149 c.1672G>T c.(1672-1674)Ggc>Tgc p.G558C PRKD2_ENST00000291281.4_Missense_Mutation_p.G558C|PRKD2_ENST00000601806.1_Missense_Mutation_p.G401C|PRKD2_ENST00000600194.1_Missense_Mutation_p.G401C|PRKD2_ENST00000595515.1_Missense_Mutation_p.G558C NM_001079880.1|NM_001079881.1|NM_016457.4 NP_001073349.1|NP_001073350.1|NP_057541.2 Q9BZL6 KPCD2_HUMAN protein kinase D2 558 Protein kinase. cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity p.G558C(1) central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) TGCCCTGAGCCCAGCACTTCG 0.592000 18 76 1.9806e-07 2.76518e-07 0.002299 1 0 PPP1R15B 84919 broad.mit.edu 37 1 204379097 204379097 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:204379097G>C ENST00000367188.4 - 1 1822 c.1443C>G c.(1441-1443)ttC>ttG p.F481L RP11-739N20.2_ENST00000443515.1_RNA NM_032833.3 NP_116222.3 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 481 regulation of translation p.F481L(1) breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3) 34 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) CTACACTGCAGAAAGAGTTCC 0.448000 11 160 0 0 0.001368 0 0 DECR1 1666 broad.mit.edu 37 8 91063968 91063968 + Splice_Site SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:91063968G>T ENST00000522161.1 + 11 1604 c.e11+1 DECR1_ENST00000220764.2_Splice_Site Q16698 DECR_HUMAN 2,4-dienoyl CoA reductase 1, mitochondrial fatty acid beta-oxidation|protein homotetramerization mitochondrial matrix|nucleus|plasma membrane 2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH p.?(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 15 BRCA - Breast invasive adenocarcinoma(11;0.00953) CCTGAGAAAGGTAATGCTTTT 0.328000 13 27 1.05317e-09 1.60097e-09 0.002450 1 0 GRK5 2869 broad.mit.edu 37 10 121086101 121086101 + Nonsense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:121086101T>A ENST00000392870.2 + 2 455 c.126T>A c.(124-126)tgT>tgA p.C42* NM_005308.2 NP_005299.1 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 42 N-terminal. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity p.C42*(1) endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1) 27 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) TTAGCCAGTGTGAAGACCTCC 0.537000 11 46 0 0 0.008291 0 0 EGFLAM 133584 broad.mit.edu 37 5 38370546 38370546 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:38370546G>A ENST00000322350.5 + 6 1040 c.694G>A c.(694-696)Gac>Aac p.D232N EGFLAM_ENST00000354891.3_Missense_Mutation_p.D232N NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 232 Fibronectin type-III 2. cell junction|proteinaceous extracellular matrix|synapse p.D232N(2) NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) CTGGCCCAGTGACATCATCCG 0.577000 4 55 0 0 0.000248 0 0 OR8J1 219477 broad.mit.edu 37 11 56127765 56127765 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:56127765A>T ENST00000303039.3 + 1 75 c.43A>T c.(43-45)Aca>Tca p.T15S NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 15 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T15S(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) GTTTATTCTTACAGGTGTCTC 0.463000 13 150 0 0 0.004990 0 0 FLRT3 23767 broad.mit.edu 37 20 14306824 14306824 + Silent SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:14306824C>G ENST00000378053.3 - 2 1585 c.1329G>C c.(1327-1329)ctG>ctC p.L443L MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.L443L NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 443 Fibronectin type-III. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity p.L443L(1) breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) GGCTATGGCCCAGTTTAAGCC 0.448000 25 86 0 0 0.003330 0 0 CUL3 8452 broad.mit.edu 37 2 225368392 225368392 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:225368392T>C ENST00000264414.4 - 9 1692 c.1354A>G c.(1354-1356)Aaa>Gaa p.K452E CUL3_ENST00000409777.1_Missense_Mutation_p.K428E|CUL3_ENST00000344951.4_Missense_Mutation_p.K386E|CUL3_ENST00000409096.1_Missense_Mutation_p.K428E NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 452 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding p.K452E(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) ATCATGTTTTTTTCAGAGTCA 0.318000 4 40 0 0 0.000602 0 0 FCGR2A 2212 broad.mit.edu 37 1 161479793 161479793 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:161479793G>T ENST00000271450.6 + 4 586 c.548G>T c.(547-549)gGt>gTt p.G183V FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Missense_Mutation_p.G182V NM_001136219.1|NM_021642.3 NP_001129691.1|NP_067674.2 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor (CD32) 183 Ig-like C2-type 2. integral to membrane|plasma membrane IgG binding|receptor activity p.G182V(1) autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1) 19 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AGTCACAGTGGTGATTACCAC 0.498000 24 100 2.44723e-14 4.15379e-14 0.004656 1 0 XIRP1 165904 broad.mit.edu 37 3 39226648 39226648 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:39226648G>T ENST00000340369.3 - 2 4517 c.4289C>A c.(4288-4290)gCc>gAc p.A1430D XIRP1_ENST00000421646.1_Missense_Mutation_p.A113D|XIRP1_ENST00000396251.1_3'UTR NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1430 actin binding p.A1430E(1) breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) ATGGTTGAGGGCATTGAGCTT 0.642000 7 100 1.06961e-07 1.50599e-07 0.003080 1 0 DYNC2H1 79659 broad.mit.edu 37 11 103039571 103039571 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:103039571A>T ENST00000375735.2 + 32 4994 c.4850A>T c.(4849-4851)cAg>cTg p.Q1617L DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Q1617L|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 1617 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AACCAAATTCAGGTTCATACA 0.353000 7 72 0 0 0.001984 0 0 KRTAP9-8 83901 broad.mit.edu 37 17 39394620 39394620 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:39394620A>G ENST00000254072.6 + 1 324 c.317A>G c.(316-318)tAc>tGc p.Y106C NM_031963.2 NP_114169.2 Q9BYQ0 KRA98_HUMAN keratin associated protein 9-8 106 15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI]. keratin filament p.Y106C(1) lung(8)|ovary(1)|prostate(1) 10 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) AGAACCTGCTACCACCCCACG 0.627000 22 119 0 0 0.002299 0 0 ZFP14 57677 broad.mit.edu 37 19 36831385 36831385 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:36831385C>G ENST00000270001.7 - 5 1458 c.1343G>C c.(1342-1344)gGt>gCt p.G448A NM_020917.2 NP_065968.1 Q9HCL3 ZFP14_HUMAN ZFP14 zinc finger protein 448 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G448A(1) NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 26 Esophageal squamous(110;0.162) AGGTTTCTCACCAGTGTGAAT 0.403000 4 121 0 0 0.000248 0 0 NMI 9111 broad.mit.edu 37 2 152132019 152132019 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:152132019T>C ENST00000243346.5 - 6 1083 c.613A>G c.(613-615)Atc>Gtc p.I205V NM_004688.2 NP_004679.2 Q13287 NMI_HUMAN N-myc (and STAT) interactor 205 inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter cytoplasm|nucleus nucleotide binding|protein binding|transcription cofactor activity p.I205V(1) endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 BRCA - Breast invasive adenocarcinoma(221;0.0571) ACAAACGTGATGACTGCACTC 0.468000 6 95 0 0 0.001984 0 0 PPM1G 5496 broad.mit.edu 37 2 27607565 27607565 + Missense_Mutation SNP G G A rs150808424 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:27607565G>A ENST00000344034.4 - 5 1064 c.800C>T c.(799-801)gCg>gTg p.A267V PPM1G_ENST00000350803.4_Missense_Mutation_p.A267V NM_177983.2 NP_817092.1 O15355 PPM1G_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1G 267 Asp/Glu-rich (acidic).|Poly-Glu. cell cycle arrest|protein dephosphorylation cytoplasm|nucleus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity p.A267V(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) TTCTTCCTCCGCCTCATCTGA 0.537000 20 145 0 0 0.008871 0 0 KCNK18 338567 broad.mit.edu 37 10 118969189 118969189 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:118969189C>T ENST00000334549.1 + 3 534 c.534C>T c.(532-534)tcC>tcT p.S178S NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 178 integral to membrane|plasma membrane p.S178S(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) CCCTCCTCTCCAAGTGGTGCC 0.517000 25 93 0 0 0.003330 0 0 OR5F1 338674 broad.mit.edu 37 11 55761253 55761253 + Silent SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:55761253G>C ENST00000278409.1 - 1 848 c.849C>G c.(847-849)ccC>ccG p.P283P NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P283P(1) endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) GATTCAACATGGGAATCACCA 0.443000 31 85 0 0 0.001786 0 0 TTN 7273 broad.mit.edu 37 2 179494983 179494983 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:179494983G>T ENST00000589042.1 - 239 44490 c.44266C>A c.(44266-44268)Cac>Aac p.H14756N TTN_ENST00000359218.5_Missense_Mutation_p.H5816N|TTN_ENST00000342175.6_Missense_Mutation_p.H5883N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H13115N|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H12188N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H5691N|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13115 Fibronectin type-III 6. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.H12188N(2)|p.H5883N(1)|p.H5691N(1)|p.H5816N(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTCGGAGGTGGGCACTAGAT 0.388000 44 83 4.02871e-13 6.66765e-13 0.003610 1 0 MANBA 4126 broad.mit.edu 37 4 103595107 103595107 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:103595107C>A ENST00000226578.4 - 8 1180 c.1081G>T c.(1081-1083)Gat>Tat p.D361Y MANBA_ENST00000505239.1_Missense_Mutation_p.D304Y NM_005908.3 NP_005899.3 O00462 MANBA_HUMAN mannosidase, beta A, lysosomal 361 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding p.D361Y(1) cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) TGGAATGAATCTGCTGGGATC 0.373000 15 70 5.3912e-06 7.04123e-06 0.006122 1 0 SAMD9 54809 broad.mit.edu 37 7 92731987 92731987 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:92731987C>T ENST00000379958.2 - 3 3693 c.3424G>A c.(3424-3426)Ggg>Agg p.G1142R NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1142 cytoplasm p.G1142W(1)|p.G1142R(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GAAATGTTCCCGTTTCCTCCG 0.368000 16 226 0 0 0.004990 0 0 OR5T1 390155 broad.mit.edu 37 11 56043987 56043987 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:56043987C>A ENST00000313033.2 + 1 959 c.873C>A c.(871-873)acC>acA p.T291T NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T291T(1) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) TATTTTATACCATTGTGATTC 0.383000 34 128 6.70999e-13 1.09848e-12 0.004289 1 0 OVCH1 341350 broad.mit.edu 37 12 29604465 29604465 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:29604465G>A ENST00000318184.5 - 22 2567 c.2568C>T c.(2566-2568)ggC>ggT p.G856G OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 856 CUB 3. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity p.G856G(1) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TGGGAAAAAAGCCTCTAGGCT 0.428000 11 27 0 0 0.002450 0 0 LMX1A 4009 broad.mit.edu 37 1 165173231 165173231 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:165173231G>A ENST00000342310.3 - 9 1417 c.1035C>T c.(1033-1035)ctC>ctT p.L345L LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_Silent_p.L345L|LMX1A_ENST00000294816.2_Silent_p.L345L NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 345 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L345L(1) NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CCAGGTTACTGAGGGAGGTGT 0.507000 8 114 0 0 0.004482 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140763276 140763276 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:140763276C>A ENST00000518325.1 + 1 810 c.810C>A c.(808-810)gaC>gaA p.D270E PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018920.2 NP_061743.1 p.D270E(1) NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGACCTGGACGAGGGAGTCA 0.463000 5 39 0.000602214 0.0007161 0.000602 1 0 PRPF8 10594 broad.mit.edu 37 17 1578503 1578503 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:1578503C>A ENST00000572621.1 - 19 3268 c.3003G>T c.(3001-3003)gtG>gtT p.V1001V PRPF8_ENST00000304992.6_Silent_p.V1001V Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1001 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding p.V1001V(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TGTTGTGGTCCACGATGAGGC 0.512000 14 38 3.27435e-08 4.706e-08 0.002450 1 0 SACS 26278 broad.mit.edu 37 13 23906719 23906719 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:23906719C>A ENST00000382298.3 - 10 11884 c.11296G>T c.(11296-11298)Gta>Tta p.V3766L SACS_ENST00000382292.3_Missense_Mutation_p.V3766L|SACS_ENST00000402364.1_Missense_Mutation_p.V3016L NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3766 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding p.V3766L(1)|p.V3619L(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CTAGTTTTTACCATTTCTTCA 0.363000 11 47 1.58986e-06 2.1318e-06 0.008291 1 0 OR52N2 390077 broad.mit.edu 37 11 5842333 5842333 + Silent SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:5842333T>A ENST00000317037.2 + 1 790 c.768T>A c.(766-768)gcT>gcA p.A256A TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A256A(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTATGTTGCTGCTTTTTTCA 0.448000 10 105 0 0 0.008291 0 0 UBN2 254048 broad.mit.edu 37 7 138944042 138944042 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:138944042G>T ENST00000288561.8 + 5 831 c.582G>T c.(580-582)gaG>gaT p.E194D UBN2_ENST00000473989.2_Missense_Mutation_p.E277D NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 277 p.E194D(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 ATGATATTGAGATGAAGAAGC 0.378000 27 58 5.6714e-07 7.75497e-07 0.002096 1 0 LPHN2 23266 broad.mit.edu 37 1 82433803 82433803 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:82433803G>T ENST00000370728.1 + 16 3076 c.2431G>T c.(2431-2433)Gac>Tac p.D811Y LPHN2_ENST00000370725.1_Missense_Mutation_p.D811Y|LPHN2_ENST00000370717.2_Missense_Mutation_p.D811Y|LPHN2_ENST00000370730.1_Missense_Mutation_p.D811Y|LPHN2_ENST00000370715.1_Missense_Mutation_p.D798Y|LPHN2_ENST00000394879.1_Missense_Mutation_p.D798Y|LPHN2_ENST00000370713.1_Missense_Mutation_p.D798Y|LPHN2_ENST00000370727.1_Missense_Mutation_p.D811Y|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370721.1_Missense_Mutation_p.D736Y|LPHN2_ENST00000271029.4_Missense_Mutation_p.D811Y|LPHN2_ENST00000335786.5_Missense_Mutation_p.D811Y|LPHN2_ENST00000359929.3_Missense_Mutation_p.D798Y|LPHN2_ENST00000319517.6_Missense_Mutation_p.D798Y|LPHN2_ENST00000370723.1_Missense_Mutation_p.D798Y O95490 LPHN2_HUMAN latrophilin 2 811 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.D798Y(1)|p.D811Y(1) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CAAGCTGGTTGACACTAATAA 0.438000 17 73 4.14922e-12 6.69359e-12 0.004007 1 0 MC2R 4158 broad.mit.edu 37 18 13885213 13885213 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr18:13885213G>A ENST00000327606.3 - 2 485 c.305C>T c.(304-306)gCc>gTc p.A102V NM_000529.2 NP_000520.1 Q01718 ACTHR_HUMAN melanocortin 2 receptor (adrenocorticotropic hormone) 102 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding p.A102V(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) GATGTCATCGGCTGTGGTTTC 0.488000 14 57 0 0 0.003163 0 0 SLIT2 9353 broad.mit.edu 37 4 20543209 20543209 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:20543209G>A ENST00000504154.1 + 20 2362 c.2110G>A c.(2110-2112)Gat>Aat p.D704N SLIT2_ENST00000503837.1_Missense_Mutation_p.D700N|SLIT2_ENST00000503823.1_Missense_Mutation_p.D696N|SLIT2_ENST00000273739.5_Missense_Mutation_p.D708N NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 704 LRRCT 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding p.D704N(1) NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 ACCCATCCAGGATGTGGCCAT 0.443000 7 48 0 0 0.001984 0 0 SAMD9 54809 broad.mit.edu 37 7 92734749 92734749 + Missense_Mutation SNP C C A rs148603551 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:92734749C>A ENST00000379958.2 - 3 931 c.662G>T c.(661-663)cGa>cTa p.R221L NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 221 cytoplasm p.R221L(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TGAAGCAAATCGGAAAACCTC 0.398000 49 140 1.30409e-13 2.18005e-13 0.003610 1 0 DCAF6 55827 broad.mit.edu 37 1 167956802 167956802 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:167956802G>A ENST00000367840.3 + 5 602 c.508G>A c.(508-510)Gat>Aat p.D170N DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000312263.6_Missense_Mutation_p.D170N|DCAF6_ENST00000432587.2_Missense_Mutation_p.D139N|DCAF6_ENST00000367843.3_Missense_Mutation_p.D170N NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 170 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity p.D170N(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 TAGGTGGTTTGATACACGCAT 0.313000 9 59 0 0 0.008291 0 0 PDGFA 5154 broad.mit.edu 37 7 550517 550517 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:550517G>A ENST00000402802.3 - 4 789 c.382C>T c.(382-384)Cgc>Tgc p.R128C PDGFA_ENST00000354513.5_Missense_Mutation_p.R128C NM_033023.4 NP_148983.1 P04085 PDGFA_HUMAN platelet-derived growth factor alpha polypeptide 128 actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity p.R128C(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15) CCGGTGCAGCGTTTCACCTCC 0.647000 7 14 0 0 0.003080 0 0 DMWD 1762 broad.mit.edu 37 19 46287940 46287940 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:46287940C>T ENST00000270223.6 - 4 1981 c.1936G>A c.(1936-1938)Gaa>Aaa p.E646K DMWD_ENST00000377735.3_Intron|AC011530.4_ENST00000593999.1_Intron NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 646 meiosis p.E646K(1) central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) caacttccttcccctgtctgg 0.572000 35 118 0 0 0.005524 0 0 TGDS 23483 broad.mit.edu 37 13 95235491 95235491 + Splice_Site SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:95235491C>G ENST00000261296.5 - 5 434 c.e5-1 TGDS_ENST00000498294.1_Splice_Site NM_014305.2 NP_055120.1 O95455 TGDS_HUMAN TDP-glucose 4,6-dehydratase cellular metabolic process coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding p.?(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 all_neural(89;0.0684)|Medulloblastoma(90;0.163) AATGAAAGATCTAAAAGAAAA 0.383000 3 10 0 0 0.004672 0 0 DOCK3 1795 broad.mit.edu 37 3 51370646 51370646 + Silent SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:51370646C>G ENST00000266037.9 + 35 3596 c.3573C>G c.(3571-3573)acC>acG p.T1191T NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1191 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding p.T1191T(1)|p.T1180T(1) breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CCTTTGTGACCTCAGTCACCC 0.527000 13 135 0 0 0.001855 0 0 FGF14 2259 broad.mit.edu 37 13 102375181 102375181 + Nonstop_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:102375181C>A ENST00000376131.4 - 5 854 c.759G>T c.(757-759)taG>taT p.*253Y ITGBL1_ENST00000415285.1_Intron|FGF14_ENST00000376143.4_Nonstop_Mutation_p.*248Y NM_175929.2 NP_787125.1 Q92915 FGF14_HUMAN fibroblast growth factor 14 0 cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction nucleus growth factor activity|heparin binding p.*253Y(1)|p.*248Y(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2) 29 all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GAGGATCTGGCTATGTTGTCT 0.502000 14 44 2.61681e-11 4.14495e-11 0.002450 1 0 CUL4A 8451 broad.mit.edu 37 13 113897369 113897369 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:113897369G>A ENST00000451881.1 + 11 1072 c.823G>A c.(823-825)Gtg>Atg p.V275M CUL4A_ENST00000375440.4_Missense_Mutation_p.V375M|CUL4A_ENST00000375441.3_Missense_Mutation_p.V275M|CUL4A_ENST00000326335.4_Missense_Mutation_p.V275M NM_001278513.1|NM_003589.2 NP_001265442.1|NP_003580.1 Q13619 CUL4A_HUMAN cullin 4A 375 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding p.V275M(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1) 17 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) GGTGGACCACGTGATCGAGGT 0.468000 17 66 0 0 0.006122 0 0 COL27A1 85301 broad.mit.edu 37 9 116931198 116931198 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:116931198C>T ENST00000356083.3 + 3 1754 c.1363C>T c.(1363-1365)Ccc>Tcc p.P455S NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 455 Pro-rich. cell adhesion extracellular matrix structural constituent p.P455S(1) central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 AAAACCCATTCCCACACTAGC 0.612000 7 161 0 0 0.004482 0 0 OR5K1 26339 broad.mit.edu 37 3 98189049 98189049 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:98189049C>A ENST00000332650.5 + 1 726 c.629C>A c.(628-630)aCc>aAc p.T210N NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T210N(1) breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CAAGTCTTTACCATAGGTAGT 0.348000 41 137 1.67305e-13 2.78004e-13 0.006230 1 0 MUC16 94025 broad.mit.edu 37 19 9058698 9058698 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:9058698G>T ENST00000397910.4 - 3 28951 c.28748C>A c.(28747-28749)cCt>cAt p.P9583H NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9585 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.P9583H(1)|p.P5216H(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCTCAGTCCAGGGGTCAGAGA 0.512000 9 39 7.48243e-07 1.01312e-06 0.006214 1 0 KIAA0513 9764 broad.mit.edu 37 16 85109450 85109450 + Splice_Site SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:85109450G>T ENST00000566428.1 + 5 1135 c.503_splice c.e5-1 p.E168_splice KIAA0513_ENST00000567328.1_Splice_Site_p.E168_splice|KIAA0513_ENST00000258180.3_Splice_Site_p.E168_splice|KIAA0513_ENST00000538274.1_Splice_Site_p.E168_splice O60268 K0513_HUMAN KIAA0513 168 cytoplasm p.E168D(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.234) CTTGTTTCAGGTGTCATCAGA 0.522000 11 58 1.08611e-07 1.52147e-07 0.000978 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110497320 110497320 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:110497320G>C ENST00000378402.5 + 58 9728 c.9624G>C c.(9622-9624)caG>caC p.Q3208H NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3208 immune response cytosol|extracellular space|integral to membrane receptor activity p.Q3210H(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTCCACCAGACAGAAACAA 0.318000 HNSCC(38;0.096) 26 48 0 0 0.003330 0 0 DAP3 7818 broad.mit.edu 37 1 155699058 155699058 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:155699058G>A ENST00000368336.5 + 9 868 c.744G>A c.(742-744)aaG>aaA p.K248K DAP3_ENST00000343043.3_Silent_p.K248K|DAP3_ENST00000535183.1_Silent_p.K207K|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000421487.2_Silent_p.K214K|DAP3_ENST00000471214.1_3'UTR NM_001199849.1|NM_004632.3 NP_001186778.1|NP_004623.1 P51398 RT29_HUMAN death associated protein 3 248 induction of apoptosis by extracellular signals mitochondrial ribosome|nucleolus|small ribosomal subunit protein binding p.K248K(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 24 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) AAGAGCTAAAGAGGCAAAGTT 0.488000 60 108 0 0 0.003610 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130215686 130215686 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:130215686C>A ENST00000276211.5 + 2 392 c.47C>A c.(46-48)cCc>cAc p.P16H ARHGAP36_ENST00000370922.1_Intron NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 16 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.P16H(1) breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 GCACTGTGCCCCAGAATCATG 0.527000 39 57 1.49673e-21 2.76987e-21 0.006230 1 0 CDON 50937 broad.mit.edu 37 11 125864222 125864222 + Silent SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:125864222T>A ENST00000392693.3 - 14 2734 c.2607A>T c.(2605-2607)acA>acT p.T869T CDON_ENST00000531738.1_Silent_p.T246T|CDON_ENST00000263577.7_Silent_p.T869T NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 869 Fibronectin type-III 3. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding p.T869T(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) TGTCACTATCTGTTGGTCGGT 0.388000 5 38 0 0 0.001984 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103182692 103182692 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:103182692G>C ENST00000375735.2 + 79 11723 c.11579G>C c.(11578-11580)cGa>cCa p.R3860P DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3867P|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3860 AAA 6 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity p.R1300Q(3)|p.R1300P(1) NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AATACACATCGAGCTCATGCT 0.358000 22 118 0 0 0.001882 0 0 XIRP2 129446 broad.mit.edu 37 2 168099305 168099305 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:168099305C>A ENST00000409195.1 + 9 1492 c.1403C>A c.(1402-1404)gCa>gAa p.A468E XIRP2_ENST00000295237.9_Missense_Mutation_p.A468E|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A246E|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 293 actin cytoskeleton organization cell junction actin binding p.A468E(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GATGTGACAGCATTTTCCCAG 0.428000 25 65 4.59853e-10 7.07466e-10 0.005443 1 0 ROR2 4920 broad.mit.edu 37 9 94493208 94493208 + Missense_Mutation SNP A A C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:94493208A>C ENST00000375708.3 - 7 1365 c.1167T>G c.(1165-1167)tgT>tgG p.C389W ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.C249W NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 389 Kringle. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding p.C389W(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 AGGGTACGTCACACAGTTCCA 0.527000 13 55 0 0 0.001855 0 0 MROH2B 133558 broad.mit.edu 37 5 41010120 41010120 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:41010120C>T ENST00000399564.4 - 31 3647 c.3197G>A c.(3196-3198)aGt>aAt p.S1066N MROH2B_ENST00000506092.2_Missense_Mutation_p.S621N NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B p.S1066N(1) GAACTGAAAACTTTCTTCTTT 0.408000 19 69 0 0 0.007413 0 0 PTPRR 5801 broad.mit.edu 37 12 71094917 71094917 + Splice_Site SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:71094917C>T ENST00000283228.2 - 7 1646 c.1194_splice c.e7+1 p.M398_splice PTPRR_ENST00000440835.2_Splice_Site_p.M153_splice|PTPRR_ENST00000378778.1_Splice_Site_p.M192_splice|PTPRR_ENST00000342084.4_Splice_Site_p.M286_splice|PTPRR_ENST00000549308.1_Splice_Site_p.M153_splice NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 398 Tyrosine-protein phosphatase. in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity p.M398I(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) GAAGGCTCACCATGAATTCAC 0.443000 24 63 0 0 0.003330 0 0 ZNF208 7757 broad.mit.edu 37 19 22154744 22154744 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:22154744C>A ENST00000397126.4 - 4 3240 c.3092G>T c.(3091-3093)tGt>tTt p.C1031F ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 p.C903F(2)|p.C1031F(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) ACATTCTTCACATTTGTAGGG 0.418000 35 73 4.34311e-12 6.99278e-12 0.003271 1 0 KCTD15 79047 broad.mit.edu 37 19 34302440 34302440 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:34302440C>G ENST00000284006.5 + 6 928 c.676C>G c.(676-678)Cgg>Ggg p.R226G KCTD15_ENST00000589786.1_Missense_Mutation_p.R226G|KCTD15_ENST00000588881.1_Missense_Mutation_p.R226G|KCTD15_ENST00000430256.2_Missense_Mutation_p.R226G NM_001129994.1|NM_001129995.1|NM_024076.2 NP_001123466.1|NP_001123467.1|NP_076981.2 Q96SI1 KCD15_HUMAN potassium channel tetramerization domain containing 15 226 voltage-gated potassium channel complex voltage-gated potassium channel activity p.R226G(1) endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1) 5 Esophageal squamous(110;0.162) TGGCTACTGCCGGCTCAACTC 0.697000 17 20 0 0 0.004007 0 0 PLA2G3 50487 broad.mit.edu 37 22 31533819 31533819 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:31533819G>C ENST00000215885.3 - 4 1195 c.943C>G c.(943-945)Cag>Gag p.Q315E NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 315 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity p.Q315E(2) large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 GACCCTTTCTGATGTGGTGGC 0.672000 12 201 0 0 0.002450 0 0 NPFFR2 10886 broad.mit.edu 37 4 72897709 72897709 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:72897709C>A ENST00000308744.6 + 1 189 c.91C>A c.(91-93)Cgc>Agc p.R31S NPFFR2_ENST00000344413.5_Missense_Mutation_p.R31S NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 31 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity p.R31S(1) NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) GGGGAGGGAGCGCAGAGCACT 0.657000 14 34 1.15088e-07 1.60948e-07 0.004007 1 0 PLA2G12A 81579 broad.mit.edu 37 4 110638814 110638814 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:110638814T>C ENST00000243501.5 - 3 608 c.341A>G c.(340-342)tAt>tGt p.Y114C PLA2G12A_ENST00000502283.1_Missense_Mutation_p.Y112C|PLA2G12A_ENST00000502772.1_5'UTR NM_030821.4 NP_110448.2 Q9BZM1 PG12A_HUMAN phospholipase A2, group XIIA 114 lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|calcium-dependent phospholipase A2 activity kidney(1)|lung(1)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(123;0.000268) ACAGGTCTCATAGCACCTGTC 0.433000 3 131 0 0 0.004672 0 0 DNAH9 1770 broad.mit.edu 37 17 11556077 11556077 + Splice_Site SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:11556077G>C ENST00000262442.3 + 14 2421 c.e14-1 DNAH9_ENST00000454412.2_Splice_Site NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.?(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTGGGGAACAGGCATTTGCGA 0.363000 16 60 0 0 0.007413 0 0 RIN1 9610 broad.mit.edu 37 11 66101539 66101539 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:66101539C>A ENST00000311320.4 - 7 1568 c.1442G>T c.(1441-1443)gGg>gTg p.G481V RIN1_ENST00000424433.2_Missense_Mutation_p.G376V|RIN1_ENST00000530056.1_Intron NM_004292.2 NP_004283.2 Q13671 RIN1_HUMAN Ras and Rab interactor 1 481 Ras and 14-3-3 protein binding region.|VPS9. endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding p.G481V(1) breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1) 14 CAGGTGGGACCCGAAGGCTCC 0.736000 5 8 8.12818e-05 0.000100244 0.001984 1 0 OR5AS1 219447 broad.mit.edu 37 11 55798679 55798679 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:55798679C>A ENST00000313555.1 + 1 785 c.785C>A c.(784-786)cCc>cAc p.P262H NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P262H(1) endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) TACTTACAGCCCACCACTAGC 0.418000 26 93 4.47668e-21 8.24782e-21 0.003954 1 0 NRG2 9542 broad.mit.edu 37 5 139231342 139231342 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:139231342G>A ENST00000541337.1 - 7 1650 c.1421C>T c.(1420-1422)tCa>tTa p.S474L NRG2_ENST00000340391.3_Missense_Mutation_p.S337L|NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000289422.7_Missense_Mutation_p.S548L|NRG2_ENST00000545385.1_Missense_Mutation_p.S542L|NRG2_ENST00000289409.4_Missense_Mutation_p.S534L|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000358522.3_Missense_Mutation_p.S542L|NRG2_ENST00000361474.1_Missense_Mutation_p.S540L NM_001184935.1 NP_001171864.1 O14511 NRG2_HUMAN neuregulin 2 540 embryo development extracellular region|integral to membrane|plasma membrane growth factor activity p.S540L(1) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCCACTGATGATAGCATGAT 0.632000 6 48 0 0 0.001984 0 0 FCRLA 84824 broad.mit.edu 37 1 161680550 161680550 + Splice_Site SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:161680550C>T ENST00000540926.1 + 3 391 c.97_splice c.e3-1 p.A33_splice FCRLA_ENST00000367950.1_Splice_Site_p.A4_splice|FCRLA_ENST00000367953.3_Splice_Site_p.A33_splice|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000236938.6_Splice_Site_p.A44_splice|FCRLA_ENST00000546024.1_Splice_Site_p.A44_splice|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367959.2_Splice_Site_p.A50_splice|FCRLA_ENST00000367949.2_Splice_Site_p.A44_splice|FCRLA_ENST00000309691.6_Splice_Site_p.A27_splice|FCRLA_ENST00000349527.4_Splice_Site_p.A27_splice Q7L513 FCRLA_HUMAN Fc receptor-like A 27 cell differentiation cytoplasm|extracellular region p.A27V(1)|p.A50V(1) breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) CCCTCTTCAGCTGCCAGTTTT 0.527000 4 60 0 0 0.000602 0 0 PCDH11X 27328 broad.mit.edu 37 X 91131875 91131875 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:91131875G>T ENST00000373094.1 + 2 1481 c.636G>T c.(634-636)aaG>aaT p.K212N PCDH11X_ENST00000361655.2_Missense_Mutation_p.K212N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.K212N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.K212N|PCDH11X_ENST00000504220.1_Missense_Mutation_p.K212N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.K212N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.K212N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.K212N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.K212N NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 212 Cadherin 2. homophilic cell adhesion integral to plasma membrane calcium ion binding p.K212N(3) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 GGGAAGAGAAGGATACCTACG 0.408000 36 36 4.32679e-17 7.69002e-17 0.006999 1 0 C9orf171 389799 broad.mit.edu 37 9 135447814 135447814 + Missense_Mutation SNP C C G rs141309620 byFrequency TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:135447814C>G ENST00000343036.2 + 7 928 c.880C>G c.(880-882)Cgc>Ggc p.R294G C9orf171_ENST00000393216.2_Missense_Mutation_p.R258G NM_207417.1 NP_997300.1 Q6ZQR2 CI171_HUMAN chromosome 9 open reading frame 171 294 p.R294G(1) large_intestine(7)|lung(9)|ovary(4)|prostate(3) 23 GGAGGCCGATCGCCAGAGAGC 0.627000 4 64 0 0 0.001168 0 0 RYR2 6262 broad.mit.edu 37 1 237777418 237777418 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:237777418G>C ENST00000366574.2 + 37 5307 c.4990G>C c.(4990-4992)Gtc>Ctc p.V1664L RYR2_ENST00000360064.6_Missense_Mutation_p.V1662L|RYR2_ENST00000542537.1_Missense_Mutation_p.V1648L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1664 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.V1662L(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTACTCAGCCGTCTGTGCTCT 0.517000 29 51 0 0 0.001786 0 0 CHL1 10752 broad.mit.edu 37 3 369946 369946 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:369946G>T ENST00000256509.2 + 5 936 c.294G>T c.(292-294)ggG>ggT p.G98G CHL1_ENST00000397491.2_Silent_p.G98G NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 98 Ig-like C2-type 1. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix p.G98G(1) NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CAAACGAGGGGCACATATCTC 0.393000 10 116 1.58986e-06 2.1318e-06 0.008291 1 0 ADARB2 105 broad.mit.edu 37 10 1229175 1229175 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:1229175C>T ENST00000381312.1 - 10 2503 c.2178G>A c.(2176-2178)gtG>gtA p.V726V ADARB2_ENST00000381305.1_Silent_p.V128V|ADARB2_ENST00000381310.3_Silent_p.V235V NM_018702.3 NP_061172.1 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 (non-functional) 726 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding p.V726V(1) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) GTGGTTTCCTCACCCAGGTGC 0.617000 7 21 0 0 0.001984 0 0 TTC31 64427 broad.mit.edu 37 2 74720290 74720290 + Nonsense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:74720290C>T ENST00000442235.2 + 8 819 c.481C>T c.(481-483)Caa>Taa p.Q161* TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000233623.5_Missense_Mutation_p.S502L Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 499 binding p.S502L(1) breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 CAGGACCCTTCAAAGGGCTGG 0.587000 17 58 0 0 0.004007 0 0 MAN1A2 10905 broad.mit.edu 37 1 118045579 118045579 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:118045579G>T ENST00000356554.3 + 12 2515 c.1780G>T c.(1780-1782)Gct>Tct p.A594S NM_006699.3 NP_006690.1 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 594 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity p.A594S(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) CTTTTTTCTTGCTGAAACATT 0.338000 5 32 0.000602214 0.0007161 0.000602 1 0 ITGB3 3690 broad.mit.edu 37 17 45376866 45376866 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:45376866C>A ENST00000559488.1 + 11 1899 c.1883C>A c.(1882-1884)cCc>cAc p.P628H ITGB3_ENST00000560629.1_Silent_p.P616P|ITGB3_ENST00000435993.2_Missense_Mutation_p.P581H NM_000212.2 NP_000203.2 P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 628 Cysteine-rich tandem repeats. activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding p.P581Q(1)|p.P628Q(1) breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) GAGAAGTGCCCCACCTGCCCA 0.607000 12 52 0.000978159 0.00115569 0.000978 1 0 RYR2 6262 broad.mit.edu 37 1 237550647 237550647 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:237550647G>T ENST00000366574.2 + 9 960 c.643G>T c.(643-645)Gcc>Tcc p.A215S RYR2_ENST00000360064.6_Missense_Mutation_p.A213S|RYR2_ENST00000542537.1_Missense_Mutation_p.A199S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 215 MIR 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.A213S(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTGGAGCGTGGCCCCAATCAG 0.507000 46 104 1.32667e-27 2.56376e-27 0.003610 1 0 DMP1 1758 broad.mit.edu 37 4 88584284 88584284 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:88584284G>T ENST00000339673.6 + 6 1453 c.1354G>T c.(1354-1356)Gac>Tac p.D452Y RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.D436Y|RP11-742B18.1_ENST00000507894.1_RNA NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 452 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding p.D452Y(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) TTCTGAGGAAGACGACAGTGA 0.532000 12 55 3.07112e-06 4.04287e-06 0.000978 1 0 CST7 8530 broad.mit.edu 37 20 24940338 24940338 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:24940338G>A ENST00000480798.1 + 4 704 c.428G>A c.(427-429)cGt>cAt p.R143H CST7_ENST00000376835.2_Missense_Mutation_p.R165H NM_003650.3 NP_003641.3 O76096 CYTF_HUMAN cystatin F (leukocystatin) 143 immune response cytoplasm|extracellular region cysteine-type endopeptidase inhibitor activity large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 5 CCTGTTCTCCGTTGTCACTGA 0.587000 5 86 0 0 0.000602 0 0 WDR27 253769 broad.mit.edu 37 6 170033053 170033053 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:170033053C>A ENST00000333572.6 - 21 2732 c.2213G>T c.(2212-2214)tGc>tTc p.C738F WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Missense_Mutation_p.C738F|WDR27_ENST00000423258.1_Missense_Mutation_p.C611F A2RRH5 WDR27_HUMAN WD repeat domain 27 708 p.C738F(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) TTTATTTTGGCAGATTTGATG 0.448000 7 26 2.0095e-06 2.67503e-06 0.001984 1 0 SI 6476 broad.mit.edu 37 3 164709192 164709192 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:164709192C>T ENST00000264382.3 - 44 5119 c.5057G>A c.(5056-5058)cGt>cAt p.R1686H NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1686 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.R1686H(1)|p.R1686L(1) NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTGACCACCACGGACATGTAG 0.388000 HNSCC(35;0.089) 10 64 0 0 0.000978 0 0 ZFP69B 65243 broad.mit.edu 37 1 40929215 40929215 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:40929215G>T ENST00000411995.2 + 6 1934 c.1559G>T c.(1558-1560)aGa>aTa p.R520I ZFP69B_ENST00000361584.3_Missense_Mutation_p.R418I|ZFP69B_ENST00000484445.1_3'UTR NM_023070.2 NP_075558.2 ZFP69 zinc finger protein B p.R418I(1)|p.R520I(1) TCCCTTATTAGACACTGCAAA 0.348000 6 54 2.7689e-08 4.0038e-08 0.001984 1 0 DNAH3 55567 broad.mit.edu 37 16 21073886 21073886 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:21073886C>T ENST00000261383.3 - 25 3636 c.3637G>A c.(3637-3639)Gac>Aac p.D1213N DNAH3_ENST00000415178.1_Missense_Mutation_p.D1213N NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1213 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.D1213N(2) NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCCAGATTGTCTGTAAACTCA 0.463000 14 100 0 0 0.006122 0 0 FAM118B 79607 broad.mit.edu 37 11 126110847 126110847 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:126110847G>A ENST00000533050.1 + 4 740 c.247G>A c.(247-249)Gaa>Aaa p.E83K FAM118B_ENST00000360194.4_Missense_Mutation_p.E83K|FAM118B_ENST00000525728.1_3'UTR NM_024556.3 NP_078832.1 Q9BPY3 F118B_HUMAN family with sequence similarity 118, member B 83 p.E83K(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1) 13 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784) TGATCTTTTAGAAGATGAGGA 0.463000 26 229 0 0 0.003954 0 0 ZNF728 388523 broad.mit.edu 37 19 23159339 23159339 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:23159339C>A ENST00000594710.1 - 4 945 c.800G>T c.(799-801)cGg>cTg p.R267L NM_001267716.1 NP_001254645.1 zinc finger protein 728 GCTTGAGGACCGGGTGAAGGC 0.413000 14 32 1.49906e-05 1.90978e-05 0.002450 1 0 TMEM211 255349 broad.mit.edu 37 22 25334188 25334188 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:25334188A>G ENST00000407886.1 - 3 307 c.55T>C c.(55-57)Tgg>Cgg p.W19R TMEM211_ENST00000423535.1_Missense_Mutation_p.W90R|TMEM211_ENST00000382744.1_Missense_Mutation_p.W19R Q6ICI0 TM211_HUMAN transmembrane protein 211 90 integral to membrane p.W19R(1) endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 GCCACAGCCCAAGACAGGAGG 0.552000 17 62 0 0 0.007413 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904298 73904298 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:73904298A>G ENST00000342056.2 + 15 2415 c.2017A>G c.(2017-2019)Aca>Gca p.T673A KCNQ5_ENST00000414165.2_Missense_Mutation_p.T544A|KCNQ5_ENST00000355194.4_Missense_Mutation_p.T654A|KCNQ5_ENST00000355635.3_Missense_Mutation_p.T655A|KCNQ5_ENST00000402622.2_Missense_Mutation_p.T664A|KCNQ5_ENST00000370398.1_Missense_Mutation_p.T654A|KCNQ5_ENST00000403813.2_Missense_Mutation_p.T645A NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 654 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity p.T654A(1) breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) ATGTGAACAGACATCTGACTA 0.493000 8 113 0 0 0.004482 0 0 CRNN 49860 broad.mit.edu 37 1 152382339 152382339 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:152382339C>A ENST00000271835.3 - 3 1281 c.1219G>T c.(1219-1221)Ggg>Tgg p.G407W RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 407 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding p.G407W(1) breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GTGCTTGCCCCAGTCTGGGCC 0.607000 54 69 1.83081e-24 3.46538e-24 0.003610 1 0 MAGEC1 9947 broad.mit.edu 37 X 140995906 140995906 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:140995906T>A ENST00000285879.4 + 4 3002 c.2716T>A c.(2716-2718)Tat>Aat p.Y906N MAGEC1_ENST00000406005.2_5'UTR NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 906 protein binding p.Y906N(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CTTGTTCACTTATACACTGGA 0.468000 HNSCC(15;0.026) 35 163 0 0 0.003755 0 0 WNT9A 7483 broad.mit.edu 37 1 228109636 228109636 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:228109636C>A ENST00000272164.5 - 4 691 c.681G>T c.(679-681)cgG>cgT p.R227R WNT9A_ENST00000497852.1_Intron NM_003395.2 NP_003386.1 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, member 9A 227 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity p.R227R(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Prostate(94;0.0405) GCCAGCAGGTCCGCACCGTGC 0.622000 30 63 5.6714e-07 7.75497e-07 0.002096 1 0 MCHR2 84539 broad.mit.edu 37 6 100395638 100395638 + Splice_Site SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:100395638C>T ENST00000281806.2 - 3 706 c.392_splice c.e3+1 p.R131_splice MCHR2_ENST00000369212.1_Splice_Site_p.R131_splice|MCHR2_ENST00000445970.1_Splice_Site_p.R131_splice NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 131 integral to membrane|plasma membrane G-protein coupled receptor activity p.R131K(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) TTTCACTTACCTGTCCACACT 0.443000 34 186 0 0 0.003271 0 0 ZFHX4 79776 broad.mit.edu 37 8 77690640 77690640 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:77690640T>A ENST00000521891.2 + 4 3738 c.3290T>A c.(3289-3291)aTc>aAc p.I1097N ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000518282.1_Missense_Mutation_p.I1071N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.I1071N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.I1071N NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1071 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.I1097N(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTCAGTGAGATCTTTTTTGTT 0.537000 HNSCC(33;0.089) 15 131 0 0 0.004990 0 0 JUP 3728 broad.mit.edu 37 17 39919432 39919432 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:39919432C>A ENST00000393931.3 - 8 1418 c.1300G>T c.(1300-1302)Ggt>Tgt p.G434C JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.G434C|JUP_ENST00000310706.5_Missense_Mutation_p.G434C NM_002230.2 NP_002221.1 P14923 PLAK_HUMAN junction plakoglobin 434 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity p.G434C(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) GCCTCCACACCGCTGTTCTGT 0.602000 27 50 2.44723e-14 4.15379e-14 0.004656 1 0 HLA-DPB1 3115 broad.mit.edu 37 6 33052926 33052926 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:33052926G>T ENST00000418931.2 + 3 680 c.564G>T c.(562-564)ctG>ctT p.L188L NM_002121.5 NP_002112.3 P04440 DPB1_HUMAN major histocompatibility complex, class II, DP beta 1 188 Beta-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex p.L188L(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 11 TGGTGATGCTGGAAATGACCC 0.562000 54 75 1.0442e-30 2.05863e-30 0.003610 1 0 SLC6A5 9152 broad.mit.edu 37 11 20636271 20636271 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:20636271G>T ENST00000525748.1 + 6 1305 c.1032G>T c.(1030-1032)tcG>tcT p.S344S NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 344 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity p.S344S(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) TCAAGAACTCGACTTTCTGCA 0.408000 34 82 1.62565e-12 2.64307e-12 0.002445 1 0 ZFYVE28 57732 broad.mit.edu 37 4 2306871 2306871 + Missense_Mutation SNP C C T rs73203327 by1000genomes TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:2306871C>T ENST00000290974.2 - 8 1535 c.1196G>A c.(1195-1197)cGc>cAc p.R399H ZFYVE28_ENST00000515312.1_Missense_Mutation_p.R329H|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.R369H|RP11-478C1.7_ENST00000510632.1_RNA NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 399 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding p.R399H(1) NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 GAAGAACACGCGCTCCTCCTC 0.697000 17 36 0 0 0.004007 0 0 CYP4A11 1579 broad.mit.edu 37 1 47400232 47400232 + Splice_Site SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:47400232C>G ENST00000310638.4 - 7 822 c.e7-1 CYP4A11_ENST00000475477.1_Splice_Site|CYP4A11_ENST00000457840.2_Splice_Site|CYP4A11_ENST00000371904.4_Splice_Site_p.D265_splice|CYP4A11_ENST00000371905.1_Splice_Site NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding p.?(1) endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) ATCACTTGGTCTGTACCAGAA 0.542000 3 59 0 0 0.000248 0 0 UBXN2A 165324 broad.mit.edu 37 2 24205850 24205850 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:24205850G>T ENST00000309033.4 + 5 616 c.372G>T c.(370-372)ttG>ttT p.L124F UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000404924.1_Missense_Mutation_p.L124F|UBXN2A_ENST00000535786.1_Missense_Mutation_p.L124F NM_181713.3 NP_859064.2 P68543 UBX2A_HUMAN UBX domain protein 2A 124 SEP. p.L124F(1) endometrium(1)|large_intestine(3)|liver(1)|lung(6) 11 AAATATGTTTGTCTACGAAGC 0.373000 10 67 0.00621372 0.00714814 0.006214 1 0 HTR5A 3361 broad.mit.edu 37 7 154876017 154876017 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:154876017G>T ENST00000287907.2 + 2 1470 c.894G>T c.(892-894)tgG>tgT p.W298C HTR5A_ENST00000486819.1_3'UTR NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 298 integral to plasma membrane serotonin receptor activity p.W298C(2)|p.W298*(1) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) TGCTCTGCTGGATCCCCTTCT 0.607000 38 132 3.21399e-22 5.9812e-22 0.004878 1 0 EPHB1 2047 broad.mit.edu 37 3 134670882 134670882 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:134670882G>T ENST00000398015.3 + 3 1163 c.793G>T c.(793-795)Gtg>Ttg p.V265L EPHB1_ENST00000488154.1_Intron NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 265 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding p.V265L(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 TGAGAACAGCGTGGCATGCAA 0.552000 32 135 2.68265e-12 4.3504e-12 0.002836 1 0 SPATA31A3 727830 broad.mit.edu 37 9 40702747 40702747 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:40702747C>A ENST00000356699.5 + 4 433 c.404C>A c.(403-405)tCc>tAc p.S135Y SPATA31A3_ENST00000463536.1_3'UTR NM_001083124.1 NP_001076593.1 SPATA31 subfamily A, member 3 p.S135Y(2) GATGGAGCCTCCCAGTCCTCT 0.597000 46 423 1.14385e-22 2.13588e-22 0.003610 1 0 L1CAM 3897 broad.mit.edu 37 X 153137770 153137770 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:153137770C>A ENST00000370060.1 - 5 426 c.237G>T c.(235-237)aaG>aaT p.K79N L1CAM_ENST00000361981.3_Missense_Mutation_p.K74N|L1CAM_ENST00000361699.4_Missense_Mutation_p.K79N|L1CAM_ENST00000370057.3_Missense_Mutation_p.K79N|L1CAM_ENST00000370055.1_Missense_Mutation_p.K74N|L1CAM_ENST00000543994.1_Missense_Mutation_p.K81N|L1CAM_ENST00000538883.1_Missense_Mutation_p.K81N NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 79 Ig-like C2-type 1. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane p.K79N(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCAGCTCTTCCTTGGGTTTGA 0.607000 9 12 0.00621372 0.00714814 0.006214 1 0 USH2A 7399 broad.mit.edu 37 1 215953232 215953232 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:215953232C>A ENST00000366943.2 - 55 11278 c.10892G>T c.(10891-10893)gGt>gTt p.G3631V USH2A_ENST00000307340.3_Missense_Mutation_p.G3631V O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3631 Fibronectin type-III 21. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.G3631V(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTGGATGAGACCTTTCCCAAC 0.483000 HNSCC(13;0.011) 36 99 4.32679e-17 7.69002e-17 0.006999 1 0 HDC 3067 broad.mit.edu 37 15 50534698 50534698 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr15:50534698C>A ENST00000267845.3 - 12 2150 c.1748G>T c.(1747-1749)cGc>cTc p.R583L HDC_ENST00000543581.1_Missense_Mutation_p.R550L NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 583 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity p.R583L(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) ACTGAGGGAGCGCACCGTCTT 0.542000 67 173 2.84776e-26 5.45875e-26 0.003610 1 0 MYH6 4624 broad.mit.edu 37 14 23867979 23867979 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:23867979G>A ENST00000405093.3 - 15 1919 c.1849C>T c.(1849-1851)Ctc>Ttc p.L617F MYH6_ENST00000356287.3_Missense_Mutation_p.L617F NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 617 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle p.L617F(1) breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GTGGCCATGAGCTTGAGGGAG 0.577000 6 109 0 0 0.001984 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33658332 33658332 + Nonsense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:33658332C>A ENST00000504830.1 - 7 1482 c.1147G>T c.(1147-1149)Gga>Tga p.G383* ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.G383* NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 383 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G383*(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 AGAGGGAGTCCCGAATCTTCA 0.507000 HNSCC(64;0.19) 43 148 5.59293e-11 8.79191e-11 0.006999 1 0 PFKFB4 5210 broad.mit.edu 37 3 48563006 48563006 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:48563006T>C ENST00000232375.3 - 10 1196 c.1084A>G c.(1084-1086)Aaa>Gaa p.K362E PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000416568.1_Missense_Mutation_p.K355E|PFKFB4_ENST00000541519.1_Missense_Mutation_p.K328E|PFKFB4_ENST00000536104.1_Missense_Mutation_p.K351E|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000383734.2_Intron NM_004567.2 NP_004558.1 Q16877 F264_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 362 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity p.K362E(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) ACCTCCCCTTTAGGGTACCGG 0.597000 3 24 0 0 0.004672 0 0 GPR149 344758 broad.mit.edu 37 3 154147120 154147120 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:154147120G>A ENST00000389740.2 - 1 384 c.285C>T c.(283-285)aaC>aaT p.N95N NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 95 integral to membrane|plasma membrane G-protein coupled receptor activity p.N95N(1) autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) CGGGGACCTCGTTTGGCCACT 0.498000 29 102 0 0 0.001786 0 0 TLR10 81793 broad.mit.edu 37 4 38774993 38774993 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:38774993G>T ENST00000308973.4 - 4 2824 c.2219C>A c.(2218-2220)aCc>aAc p.T740N TLR10_ENST00000506111.1_Missense_Mutation_p.T740N|TLR10_ENST00000508334.1_Missense_Mutation_p.T740N|TLR10_ENST00000361424.2_Missense_Mutation_p.T740N NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 740 TIR. inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity p.T740N(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 ATGATACCTGGTGGGAATGCA 0.403000 57 80 3.07002e-29 5.98852e-29 0.003610 1 0 KLHL38 340359 broad.mit.edu 37 8 124664765 124664765 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:124664765G>T ENST00000325995.7 - 1 425 c.402C>A c.(400-402)agC>agA p.S134R CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 134 p.S134R(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 CCAGGCAGTTGCTGGGGGCCA 0.582000 25 34 8.24728e-16 1.43808e-15 0.004656 1 0 ACTRT2 140625 broad.mit.edu 37 1 2938660 2938660 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:2938660A>G ENST00000378404.2 + 1 615 c.410A>G c.(409-411)tAc>tGc p.Y137C NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 137 cytoplasm|cytoskeleton p.Y137C(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) CCCGCTTTCTACCTGTCGGAC 0.627000 10 43 0 0 0.006214 0 0 PLXNA3 55558 broad.mit.edu 37 X 153688868 153688868 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:153688868C>T ENST00000369682.3 + 2 520 c.345C>T c.(343-345)atC>atT p.I115I NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 115 Sema. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity p.I115I(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCGGCAGCATCTGGCAGGGCA 0.672000 11 28 0 0 0.000978 0 0 TTN 7273 broad.mit.edu 37 2 179602947 179602947 + Nonsense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:179602947T>A ENST00000589042.1 - 49 14457 c.14233A>T c.(14233-14235)Aag>Tag p.K4745* TTN_ENST00000359218.5_Nonsense_Mutation_p.K4507*|TTN_ENST00000342175.6_Nonsense_Mutation_p.K4574*|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.K4428*|TTN_ENST00000342992.6_Nonsense_Mutation_p.K3501*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.K4382*|TTN-AS1_ENST00000590773.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4428 Ig-like 27. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.K3501*(2)|p.K4574*(1)|p.K4382*(1)|p.K4507*(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATAGAACACTTGTCACTCTCA 0.468000 14 33 0 0 0.003163 0 0 SP2 6668 broad.mit.edu 37 17 45993740 45993740 + Silent SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:45993740G>C ENST00000376741.4 + 3 440 c.303G>C c.(301-303)ctG>ctC p.L101L AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA NM_003110.5 NP_003101.3 Q02086 SP2_HUMAN Sp2 transcription factor 101 immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|histone deacetylase binding|zinc ion binding p.L101L(1) endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 13 GGTCACAACTGAGCGCCTCCT 0.522000 15 124 0 0 0.002450 0 0 FLG 2312 broad.mit.edu 37 1 152277576 152277576 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:152277576G>A ENST00000368799.1 - 3 9821 c.9786C>T c.(9784-9786)gcC>gcT p.A3262A FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3262 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.A3262A(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCCGTGACCGGCTCTGTCTT 0.582000 Ichthyosis 23 625 0 0 0.002299 0 0 TEP1 7011 broad.mit.edu 37 14 20845891 20845891 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:20845891G>A ENST00000262715.5 - 40 5783 c.5743C>T c.(5743-5745)Ctg>Ttg p.L1915L TEP1_ENST00000556935.1_Silent_p.L1807L|TEP1_ENST00000545983.1_Silent_p.L253L NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1915 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding p.L1915L(1) NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GGCCGACCCAGAGACCCTGAC 0.597000 36 47 0 0 0.003755 0 0 FKBP6 8468 broad.mit.edu 37 7 72743399 72743399 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:72743399C>A ENST00000252037.4 + 3 281 c.212C>A c.(211-213)cCc>cAc p.P71H FKBP6_ENST00000413573.2_Intron|FKBP6_ENST00000431982.2_Missense_Mutation_p.P66H NM_003602.3 NP_003593.3 O75344 FKBP6_HUMAN FK506 binding protein 6, 36kDa 71 PPIase FKBP-type. protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity p.P71H(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 16 Lung NSC(55;0.0908)|all_lung(88;0.198) ATGGACAGACCCTTCGATTCT 0.438000 46 172 6.31075e-24 1.19044e-23 0.003610 1 0 TRMT10A 93587 broad.mit.edu 37 4 100470252 100470252 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:100470252G>C ENST00000273962.3 - 8 1325 c.1013C>G c.(1012-1014)cCa>cGa p.P338R TRMT10A_ENST00000394876.2_Missense_Mutation_p.P338R|TRMT10A_ENST00000394877.3_Missense_Mutation_p.P338R NM_152292.4 NP_689505.1 tRNA methyltransferase 10 homolog A (S. cerevisiae) p.P338R(1) ACATTAGTGTGGCAGAGAGTT 0.348000 20 100 0 0 0.001523 0 0 DGKG 1608 broad.mit.edu 37 3 186002472 186002472 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:186002472C>T ENST00000265022.3 - 7 1110 c.571G>A c.(571-573)Gag>Aag p.E191K DGKG_ENST00000344484.4_Missense_Mutation_p.E191K|DGKG_ENST00000382164.4_Missense_Mutation_p.E191K|DGKG_ENST00000544847.1_Missense_Mutation_p.E191K NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 191 EF-hand 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity p.E191K(1) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) AGACCGTTCTCATCTGAATCA 0.502000 30 98 0 0 0.002445 0 0 CES2 8824 broad.mit.edu 37 16 66975441 66975441 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:66975441G>T ENST00000317091.4 + 7 2124 c.1140G>T c.(1138-1140)ggG>ggT p.G380G CES2_ENST00000417689.1_Silent_p.G380G NM_003869.5 NP_003860.2 O00748 EST2_HUMAN carboxylesterase 2 316 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity p.G380G(1) breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) TGGTGGATGGGGTCTTCCTGC 0.567000 8 52 0.000274275 0.000330884 0.004482 1 0 MYH4 4622 broad.mit.edu 37 17 10352302 10352302 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:10352302C>A ENST00000255381.2 - 31 4354 c.4244G>T c.(4243-4245)tGt>tTt p.C1415F CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1415 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.C1415F(1) NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 AAGAGAAGCACATTTGGAATT 0.453000 13 55 0.000151284 0.000185337 0.001855 1 0 TTN 7273 broad.mit.edu 37 2 179664422 179664422 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:179664422T>C ENST00000589042.1 - 6 930 c.706A>G c.(706-708)Aca>Gca p.T236A TTN_ENST00000360870.5_Missense_Mutation_p.T236A|TTN_ENST00000359218.5_Missense_Mutation_p.T236A|TTN_ENST00000342175.6_Missense_Mutation_p.T236A|TTN_ENST00000591111.1_Missense_Mutation_p.T236A|TTN_ENST00000342992.6_Missense_Mutation_p.T236A|TTN_ENST00000460472.2_Missense_Mutation_p.T236A NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 236 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.T236A(6) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATCTCAACTGTTGCAATTGAT 0.493000 14 67 0 0 0.003163 0 0 GRAP2 9402 broad.mit.edu 37 22 40367056 40367056 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:40367056C>G ENST00000344138.4 + 8 1224 c.961C>G c.(961-963)Cct>Gct p.P321A GRAP2_ENST00000399090.2_Missense_Mutation_p.P208A|GRAP2_ENST00000543252.1_Missense_Mutation_p.P269A|GRAP2_ENST00000540310.1_Missense_Mutation_p.P255A|GRAP2_ENST00000544756.1_Missense_Mutation_p.P249A|GRAP2_ENST00000407075.3_Missense_Mutation_p.P321A NM_004810.2 NP_004801.1 O75791 GRAP2_HUMAN GRB2-related adaptor protein 2 321 SH3 2. cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway cytosol SH3/SH2 adaptor activity p.P321A(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 GGGCCTCTTCCCTGCCAACTA 0.587000 14 93 0 0 0.004007 0 0 NELL1 4745 broad.mit.edu 37 11 21250989 21250989 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:21250989C>A ENST00000298925.5 + 15 1775 c.1622C>A c.(1621-1623)aCc>aAc p.T541N NELL1_ENST00000325319.5_Missense_Mutation_p.T456N|NELL1_ENST00000532434.1_Missense_Mutation_p.T513N|NELL1_ENST00000357134.5_Missense_Mutation_p.T513N Q92832 NELL1_HUMAN NEL-like 1 (chicken) 513 EGF-like 4. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity p.T513N(1) NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 GGGAACGGGACCATCTGCAGA 0.577000 11 11 3.07112e-06 4.04287e-06 0.000978 1 0 NRXN1 9378 broad.mit.edu 37 2 50463973 50463973 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:50463973C>A ENST00000404971.1 - 19 4959 c.3620G>T c.(3619-3621)cGa>cTa p.R1207L NRXN1_ENST00000405472.3_Missense_Mutation_p.R1159L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1159L|NRXN1_ENST00000342183.5_Missense_Mutation_p.R132L|NRXN1_ENST00000401710.1_Missense_Mutation_p.R185L|NRXN1_ENST00000406316.2_Missense_Mutation_p.R1167L|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1167L|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1167L NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1167 Laminin G-like 6. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity p.R1167L(1)|p.R132L(1)|p.R1207L(1)|p.R1208L(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ACTGTCCACTCGCACCAATAC 0.423000 15 37 7.07596e-05 8.78541e-05 0.006122 1 0 ARMC2 84071 broad.mit.edu 37 6 109190162 109190162 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:109190162G>T ENST00000392644.4 + 4 595 c.427G>T c.(427-429)Gcc>Tcc p.A143S ARMC2_ENST00000368972.3_5'UTR NM_032131.4 NP_115507.4 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 143 binding p.A136S(1) endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1) 24 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) CTCCCAGCGGGCCCTTCTGCC 0.542000 23 60 2.44723e-14 4.15379e-14 0.004656 1 0 CR2 1380 broad.mit.edu 37 1 207642062 207642062 + Splice_Site SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:207642062T>A ENST00000367057.3 + 3 823 c.e3+2 CR2_ENST00000367059.3_Splice_Site|CR2_ENST00000367058.3_Splice_Site|CR2_ENST00000458541.2_Splice_Site|CR2_ENST00000485707.1_Splice_Site NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 CATGTGAAGGTACCCTAAATT 0.398000 6 165 0 0 0.001168 0 0 ILDR2 387597 broad.mit.edu 37 1 166892009 166892009 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:166892009C>A ENST00000271417.3 - 8 1087 c.1032G>T c.(1030-1032)gaG>gaT p.E344D ILDR2_ENST00000529071.1_Missense_Mutation_p.E325D|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000526687.1_Missense_Mutation_p.E236D|ILDR2_ENST00000525740.1_Missense_Mutation_p.E217D|ILDR2_ENST00000469934.2_Missense_Mutation_p.E344D|ILDR2_ENST00000528703.1_Missense_Mutation_p.E285D NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 344 integral to membrane p.E344D(1) NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 TGCTGTCCTCCTCATGTAGGG 0.468000 65 115 3.61411e-23 6.77901e-23 0.003610 1 0 METTL25 84190 broad.mit.edu 37 12 82824732 82824732 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:82824732G>T ENST00000248306.3 + 6 1409 c.1340G>T c.(1339-1341)tGc>tTc p.C447F METTL25_ENST00000547357.1_3'UTR NM_032230.2 NP_115606.2 methyltransferase like 25 p.C447F(1) GAGAGATGGTGCTGTGGTCGT 0.368000 7 124 0.00307968 0.00358504 0.003080 1 0 CYP4F12 66002 broad.mit.edu 37 19 15784338 15784338 + Splice_Site SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:15784338G>A ENST00000550308.1 + 2 379 c.e2-1 CYP4F12_ENST00000324632.9_5'UTR NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CTGCCCTGCAGGATGTCGCTG 0.672000 5 58 0 0 0.000602 0 0 MATN2 4147 broad.mit.edu 37 8 99042728 99042728 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:99042728G>C ENST00000254898.5 + 15 2626 c.2395G>C c.(2395-2397)Gag>Cag p.E799Q MATN2_ENST00000522025.2_Missense_Mutation_p.E515Q|MATN2_ENST00000524308.1_Missense_Mutation_p.E758Q|MATN2_ENST00000521689.1_Missense_Mutation_p.E799Q|MATN2_ENST00000520016.1_Missense_Mutation_p.E799Q|RPL30_ENST00000518164.1_Intron NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 799 VWFA 2. proteinaceous extracellular matrix calcium ion binding p.E799Q(2) breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) AAAAGCCATTGAGGAGGAACT 0.438000 11 24 0 0 0.008291 0 0 FYB 2533 broad.mit.edu 37 5 39202684 39202684 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:39202684G>T ENST00000351578.6 - 2 569 c.379C>A c.(379-381)Cct>Act p.P127T FYB_ENST00000505428.1_Missense_Mutation_p.P127T|FYB_ENST00000540520.1_Missense_Mutation_p.P137T|FYB_ENST00000512982.1_Missense_Mutation_p.P127T|FYB_ENST00000515010.1_Missense_Mutation_p.P127T NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 127 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding p.P127T(3)|p.P137T(1) endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) GGAAATGTAGGTTTGGAATCT 0.522000 12 163 9.31168e-06 1.20667e-05 0.001855 1 0 HECW1 23072 broad.mit.edu 37 7 43484130 43484130 + Silent SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:43484130C>G ENST00000395891.1 + 11 1964 c.1359C>G c.(1357-1359)ccC>ccG p.P453P HECW1_ENST00000453890.1_Silent_p.P453P NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 453 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity p.P432P(1)|p.P453P(1) NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 AGCCTGCCCCCAGTGCAGAAG 0.647000 7 13 0 0 0.003080 0 0 BCS1L 617 broad.mit.edu 37 2 219527605 219527605 + Splice_Site SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:219527605G>A ENST00000431802.1 + 7 1588 c.e7-1 BCS1L_ENST00000392109.1_Splice_Site|BCS1L_ENST00000412366.1_Splice_Site|BCS1L_ENST00000392110.2_Splice_Site|BCS1L_ENST00000465706.1_Splice_Site|BCS1L_ENST00000439945.1_Splice_Site|BCS1L_ENST00000359273.3_Splice_Site|BCS1L_ENST00000392111.2_Splice_Site Q9Y276 BCS1_HUMAN BC1 (ubiquinol-cytochrome c reductase) synthesis-like mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly integral to membrane|mitochondrial respiratory chain complex III ATP binding|nucleoside-triphosphatase activity|protein binding p.?(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 8 Renal(207;0.0474) Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTTCCTCCAGACCCAGTAAA 0.517000 15 176 0 0 0.004007 0 0 ARL13B 200894 broad.mit.edu 37 3 93722539 93722539 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:93722539C>T ENST00000394222.3 + 3 442 c.167C>T c.(166-168)tCa>tTa p.S56L ARL13B_ENST00000535334.1_5'UTR|ARL13B_ENST00000471138.1_Missense_Mutation_p.S56L|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000303097.7_Intron NM_001174150.1 NP_001167621.1 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 13B 56 GTP binding p.S56L(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2) 10 GTTGGATTTTCAAAAATTAAC 0.338000 8 79 0 0 0.003080 0 0 FAM47C 442444 broad.mit.edu 37 X 37028486 37028486 + Missense_Mutation SNP C C A rs142735792 byFrequency TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:37028486C>A ENST00000358047.3 + 1 2055 c.2003C>A c.(2002-2004)cCg>cAg p.P668Q NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 668 p.P668Q(2) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 AGTCTCCCCCCGGAGCCCCCC 0.642000 14 20 1.02788e-11 1.64382e-11 0.004990 1 0 SMYD1 150572 broad.mit.edu 37 2 88390656 88390656 + Silent SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:88390656T>C ENST00000419482.2 + 4 739 c.654T>C c.(652-654)aaT>aaC p.N218N SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.N218N NM_198274.3 NP_938015.1 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 218 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding p.N218N(1) NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 TATTTAACAATGGCAAGTGAG 0.512000 15 128 0 0 0.004007 0 0 CCDC136 64753 broad.mit.edu 37 7 128446346 128446346 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:128446346A>T ENST00000297788.4 + 8 1512 c.1145A>T c.(1144-1146)cAg>cTg p.Q382L CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 382 integral to membrane protein binding p.Q382L(2)|p.Q498L(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 GATACTAGCCAGGATGAGCAG 0.463000 6 9 0 0 0.001168 0 0 TMEM57 55219 broad.mit.edu 37 1 25824928 25824928 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:25824928G>C ENST00000374343.4 + 11 2145 c.1966G>C c.(1966-1968)Gcc>Ccc p.A656P TMEM57_ENST00000399763.3_Missense_Mutation_p.A298P|TMEM57_ENST00000399766.3_Missense_Mutation_p.A429P NM_018202.4 NP_060672.2 Q8N5G2 MACOI_HUMAN transmembrane protein 57 656 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part p.A656P(1) breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) TGACCCCAATGCCTCTGTTTA 0.542000 28 80 0 0 0.008361 0 0 RTTN 25914 broad.mit.edu 37 18 67741202 67741202 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr18:67741202C>A ENST00000255674.6 - 34 4879 c.4593G>T c.(4591-4593)agG>agT p.R1531S RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Missense_Mutation_p.R1531S NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 1531 binding p.R1531S(2) NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) TAGATGGAGCCCTCCAAAACT 0.408000 23 37 1.64293e-13 2.73274e-13 0.003330 1 0 SDK1 221935 broad.mit.edu 37 7 4007027 4007027 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:4007027G>T ENST00000404826.2 + 10 1646 c.1507G>T c.(1507-1509)Gtg>Ttg p.V503L SDK1_ENST00000389531.3_Missense_Mutation_p.V503L NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 503 Ig-like C2-type 5. cell adhesion integral to membrane p.V503L(1) NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) AAGGTGTGAGGTGTCCGGGGC 0.542000 14 82 3.27435e-08 4.706e-08 0.002450 1 0 PAPPA2 60676 broad.mit.edu 37 1 176668331 176668331 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:176668331A>G ENST00000367662.3 + 8 4006 c.2842A>G c.(2842-2844)Aca>Gca p.T948A NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 948 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.T948A(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CCCCTGCCCCACAGAAGGCTG 0.612000 8 142 0 0 0.004482 0 0 TMEM237 65062 broad.mit.edu 37 2 202494490 202494490 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:202494490G>A ENST00000409444.2 - 8 932 c.615C>T c.(613-615)acC>acT p.T205T TMEM237_ENST00000409883.2_Silent_p.T213T|TMEM237_ENST00000466839.1_5'UTR NM_152388.3 NP_689601.2 Q96Q45 TM237_HUMAN transmembrane protein 237 237 integral to membrane protein binding p.T213T(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(3) 7 CATCTCTGGTGGTCCAGGAAG 0.423000 46 66 0 0 0.003610 0 0 ELOVL7 79993 broad.mit.edu 37 5 60053392 60053392 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:60053392C>A ENST00000505959.1 - 10 1067 c.541G>T c.(541-543)Ggg>Tgg p.G181W ELOVL7_ENST00000425382.1_Missense_Mutation_p.G194W|ELOVL7_ENST00000438340.1_Missense_Mutation_p.G194W|ELOVL7_ENST00000508821.1_Missense_Mutation_p.G194W A1L3X0 ELOV7_HUMAN ELOVL fatty acid elongase 7 194 fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding p.G194W(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 9 Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481) TAGGCTGGCCCCAATGCAGAA 0.363000 16 43 6.94344e-10 1.06526e-09 0.006122 1 0 C20orf26 26074 broad.mit.edu 37 20 20079314 20079314 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:20079314G>C ENST00000245957.5 + 8 791 c.715G>C c.(715-717)Gtt>Ctt p.V239L C20orf26_ENST00000377306.1_Missense_Mutation_p.V239L|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.V239L NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 239 p.V239L(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) AGGCACAGCTGTTGGGTTCAT 0.453000 42 101 0 0 0.003214 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147336213 147336213 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:147336213C>T ENST00000361727.3 + 13 2429 c.1913C>T c.(1912-1914)aCc>aTc p.T638I NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 638 Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.T638I(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AAAGTGTGGACCATAGTGTCT 0.473000 HNSCC(39;0.1) 17 180 0 0 0.001523 0 0 SPATA31A3 727830 broad.mit.edu 37 9 40705716 40705716 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:40705716C>A ENST00000356699.5 + 4 3402 c.3373C>A c.(3373-3375)Ctt>Att p.L1125I RP11-395E19.5_ENST00000432614.1_lincRNA NM_001083124.1 NP_001076593.1 SPATA31 subfamily A, member 3 p.L1125I(2) TGAAGAAAGGCTTGAAGGATT 0.468000 51 392 2.12129e-23 3.99697e-23 0.003610 1 0 MYH2 4620 broad.mit.edu 37 17 10441144 10441144 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:10441144G>T ENST00000245503.5 - 15 1809 c.1425C>A c.(1423-1425)agC>agA p.S475R CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.S475R|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.S475R NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 475 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S475R(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCTGCTCCAGGCTGTTGAACT 0.368000 26 71 0.000117367 0.000144425 0.005443 1 0 KIRREL 55243 broad.mit.edu 37 1 158064101 158064101 + Splice_Site SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:158064101A>G ENST00000368172.1 + 10 1173 c.e10-1 KIRREL_ENST00000368173.3_Splice_Site|KIRREL_ENST00000360089.4_Splice_Site|KIRREL_ENST00000392272.2_Splice_Site|KIRREL_ENST00000416935.2_Splice_Site|KIRREL_ENST00000359209.6_Splice_Site Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) integral to membrane p.?(3) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) GCTGCTCCACAGTCGTTTAAG 0.617000 4 23 0 0 0.000248 0 0 FKTN 2218 broad.mit.edu 37 9 108363572 108363572 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:108363572C>G ENST00000223528.2 + 4 436 c.312C>G c.(310-312)ttC>ttG p.F104L FKTN_ENST00000357998.5_Missense_Mutation_p.F104L|FKTN_ENST00000602661.1_Missense_Mutation_p.F104L|FKTN_ENST00000448551.2_Missense_Mutation_p.F104L|FKTN_ENST00000540160.1_Missense_Mutation_p.F104L NM_006731.2 NP_006722.2 O75072 FKTN_HUMAN fukutin 104 muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus transferase activity p.F104L(1) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 25 GCAAGTTTTTCTGTGTTCCAA 0.353000 6 72 0 0 0.001984 0 0 ZZEF1 23140 broad.mit.edu 37 17 4008083 4008083 + Nonsense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:4008083C>A ENST00000381638.2 - 8 1541 c.1417G>T c.(1417-1419)Gaa>Taa p.E473* ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 473 calcium ion binding|zinc ion binding p.E473*(1) central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 AGAGTCAGTTCTACCTCTGGG 0.438000 9 55 0.00448238 0.00518158 0.004482 1 0 KIF2B 84643 broad.mit.edu 37 17 51901776 51901776 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:51901776G>C ENST00000268919.4 + 1 1538 c.1382G>C c.(1381-1383)aGc>aCc p.S461T NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 461 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.S461T(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 ACCAAGGCCAGCCGGAAAAGG 0.488000 8 38 0 0 0.004482 0 0 TAS1R3 83756 broad.mit.edu 37 1 1268139 1268139 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:1268139T>A ENST00000339381.5 + 3 1260 c.1228T>A c.(1228-1230)Tgc>Agc p.C410S NM_152228.1 NP_689414.1 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 410 detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity p.C410S(1) kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) CACTCTTCAGTGCAACGCCTC 0.642000 3 30 0 0 0.000248 0 0 TRPM6 140803 broad.mit.edu 37 9 77411735 77411735 + Silent SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:77411735A>T ENST00000451710.3 - 18 2550 c.2313T>A c.(2311-2313)gtT>gtA p.V771V TRPM6_ENST00000360774.1_Silent_p.V771V|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Silent_p.V771V|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Silent_p.V766V|TRPM6_ENST00000361255.3_Silent_p.V766V Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 771 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity p.V771V(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GGGACTGGGGAACATGTGACA 0.368000 20 101 0 0 0.008871 0 0 UNC5D 137970 broad.mit.edu 37 8 35541233 35541233 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:35541233G>A ENST00000287272.2 + 5 759 c.739G>A c.(739-741)Gtt>Att p.V247I UNC5D_ENST00000420357.1_Missense_Mutation_p.V247I|UNC5D_ENST00000404895.2_Missense_Mutation_p.V247I|UNC5D_ENST00000416672.1_Missense_Mutation_p.V247I|UNC5D_ENST00000453357.2_Missense_Mutation_p.V242I Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 303 apoptosis|axon guidance integral to membrane receptor activity p.V242I(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GTCGGCCACTGTTGTGGTCTA 0.502000 6 24 0 0 0.001984 0 0 GDA 9615 broad.mit.edu 37 9 74840612 74840612 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:74840612G>T ENST00000358399.3 + 8 827 c.734G>T c.(733-735)cGt>cTt p.R245L GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Missense_Mutation_p.R167L|GDA_ENST00000376989.3_Missense_Mutation_p.R184L|GDA_ENST00000238018.4_Missense_Mutation_p.R245L|GDA_ENST00000545168.1_Missense_Mutation_p.R171L NM_001242505.2|NM_001242506.2|NM_004293.4 NP_001229434.1|NP_001229435.1|NP_004284.1 Q9Y2T3 GUAD_HUMAN guanine deaminase 245 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding p.R245L(2) central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) AGTGAAAATCGTGATGAAGTT 0.279000 19 135 2.89027e-11 4.56938e-11 0.002299 1 0 KIR3DL1 3811 broad.mit.edu 37 19 55331374 55331374 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:55331374G>T ENST00000391728.4 + 4 595 c.562G>T c.(562-564)Gcc>Tcc p.A188S KIR3DL1_ENST00000402254.2_Missense_Mutation_p.A188S|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.A188S|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.A188S|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.A188S|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.A93S NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 p.A188S(2) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) CATGATGCTTGCCCTTGCAGG 0.552000 119 273 7.7863e-71 1.57051e-70 0.003610 1 0 SFTPA1 653509 broad.mit.edu 37 10 81371568 81371568 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:81371568C>G ENST00000419470.2 + 3 108 c.32C>G c.(31-33)aCt>aGt p.T11S SFTPA1_ENST00000428376.2_5'UTR|SFTPA1_ENST00000372308.3_5'UTR|SFTPA1_ENST00000398636.3_5'UTR|SFTPA1_ENST00000372313.5_Intron Q8IWL2 SFTA1_HUMAN surfactant protein A1 0 cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding p.T11S(1) endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) GGAGCAGCGACTGGACCCAGA 0.612000 23 98 0 0 0.002299 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96652499 96652499 + Splice_Site SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:96652499C>T ENST00000456556.1 - 3 570 c.486_splice c.e3+1 p.E162_splice ankyrin repeat domain 36C p.E162E(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TGACCTATACCTCGCTGCATT 0.338000 14 20 0 0 0.001855 0 0 EPHA7 2045 broad.mit.edu 37 6 93956568 93956568 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:93956568G>C ENST00000369303.4 - 15 2852 c.2668C>G c.(2668-2670)Cta>Gta p.L890V NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 890 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity p.L890V(1) NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) ATTTTGTCTAGAATTCCAACT 0.438000 21 103 0 0 0.001882 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48600956 48600956 + Splice_Site SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:48600956A>T ENST00000323776.5 + 12 1738 c.e12-1 MYCBPAP_ENST00000436259.2_Splice_Site NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding p.?(2) breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) TGTCCCTCTCAGGTGTGATTC 0.507000 27 54 0 0 0.006320 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121608163 121608163 + Missense_Mutation SNP A A C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:121608163A>C ENST00000393386.2 + 3 694 c.283A>C c.(283-285)Att>Ctt p.I95L PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I95L NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 95 Alpha-carbonic anhydrase. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity p.I95L(2) NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 AAACACATTCATTCATAACAC 0.303000 14 111 0 0 0.004007 0 0 TBX5 6910 broad.mit.edu 37 12 114823367 114823367 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:114823367C>A ENST00000310346.4 - 7 1335 c.669G>T c.(667-669)acG>acT p.T223T TBX5_ENST00000526441.1_Silent_p.T223T|TBX5_ENST00000349716.5_Silent_p.T173T|TBX5_ENST00000405440.2_Silent_p.T223T NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 223 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding p.T223T(2) endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) TCTTTAATTGCGTGATCTGAA 0.418000 7 42 1.12685e-05 1.45231e-05 0.004482 1 0 PLXNB2 23654 broad.mit.edu 37 22 50719226 50719226 + Nonsense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:50719226G>A ENST00000449103.1 - 24 4080 c.3940C>T c.(3940-3942)Cag>Tag p.Q1314* PLXNB2_ENST00000359337.4_Nonsense_Mutation_p.Q1314* O15031 PLXB2_HUMAN plexin B2 1314 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity p.Q1357*(1) breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TAGAGGGCCTGCTCCACCACC 0.657000 5 31 0 0 0.001168 0 0 FAM161A 84140 broad.mit.edu 37 2 62066780 62066780 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:62066780C>A ENST00000404929.1 - 3 1370 c.1359G>T c.(1357-1359)gtG>gtT p.V453V FAM161A_ENST00000405894.3_Silent_p.V453V NM_001201543.1 NP_001188472.1 Q3B820 F161A_HUMAN family with sequence similarity 161, member A 453 response to stimulus|visual perception centrosome p.V453V(2)|p.V344V(1) breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 ATGGTTTACACACTGTTAAGA 0.383000 17 56 4.7546e-09 7.08496e-09 0.004007 1 0 CD248 57124 broad.mit.edu 37 11 66084211 66084211 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:66084211C>A ENST00000311330.3 - 1 304 c.288G>T c.(286-288)ctG>ctT p.L96L RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 96 C-type lectin. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding p.L96L(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) GTGGGCGCTGCAGCTGGCATT 0.736000 10 35 1.76689e-08 2.56385e-08 0.006214 1 0 PRKCQ 5588 broad.mit.edu 37 10 6498661 6498661 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:6498661C>A ENST00000263125.5 - 15 1721 c.1622G>T c.(1621-1623)gGg>gTg p.G541V PRKCQ_ENST00000397176.2_Missense_Mutation_p.G541V|PRKCQ_ENST00000539722.1_Missense_Mutation_p.G416V NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 541 Protein kinase. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity p.G541V(1) NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 GTCAGGTGTCCCACAGAAGGT 0.498000 14 57 1.05317e-09 1.60097e-09 0.002450 1 0 SIGLEC1 6614 broad.mit.edu 37 20 3673254 3673254 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:3673254G>T ENST00000344754.4 - 15 3943 c.3944C>A c.(3943-3945)aCg>aAg p.T1315K SIGLEC1_ENST00000202578.4_Missense_Mutation_p.T1315K NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 1315 Ig-like C2-type 13. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding p.T1315K(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 ATGAGCCCGCGTGGCCACCAG 0.657000 11 40 1.08611e-07 1.52147e-07 0.000978 1 0 AXDND1 126859 broad.mit.edu 37 1 179339140 179339140 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:179339140T>C ENST00000367618.3 + 4 688 c.301T>C c.(301-303)Tgg>Cgg p.W101R AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.W101R NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 101 p.W101R(1) NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 AGACCATGTCTGGCATCACCC 0.423000 6 43 0 0 0.001168 0 0 MUC16 94025 broad.mit.edu 37 19 9082767 9082767 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:9082767G>T ENST00000397910.4 - 1 9251 c.9048C>A c.(9046-9048)ctC>ctA p.L3016L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3017 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.L3016L(2) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGTGCTGAAGAGAGTTGTGA 0.493000 24 94 1.64293e-13 2.73274e-13 0.003330 1 0 DACH1 1602 broad.mit.edu 37 13 72133996 72133996 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:72133996A>T ENST00000305425.4 - 5 1819 c.1397T>A c.(1396-1398)gTg>gAg p.V466E DACH1_ENST00000359684.2_Missense_Mutation_p.V518E|DACH1_ENST00000313174.7_Intron|DACH1_ENST00000354591.4_Intron NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 516 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding p.V466E(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) GGAGCTGGACACGCTGCTGCT 0.552000 7 39 0 0 0.001984 0 0 ROM1 6094 broad.mit.edu 37 11 62380969 62380969 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:62380969G>A ENST00000278833.3 + 1 757 c.216G>A c.(214-216)gtG>gtA p.V72V ROM1_ENST00000534093.1_Intron NM_000327.3 NP_000318.1 Q03395 ROM1_HUMAN retinal outer segment membrane protein 1 72 cell adhesion|visual perception integral to plasma membrane p.V72V(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 8 CGGGCGCGGTGGCTCTGGGCA 0.677000 4 24 0 0 0.000602 0 0 NCOA3 8202 broad.mit.edu 37 20 46281260 46281260 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:46281260G>T ENST00000372004.3 + 21 4261 c.4045G>T c.(4045-4047)Gct>Tct p.A1349S NCOA3_ENST00000371997.3_Missense_Mutation_p.A1344S|NCOA3_ENST00000371998.3_Missense_Mutation_p.A1353S|NCOA3_ENST00000341724.6_Missense_Mutation_p.A1279S NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1353 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.A1353S(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 ACACCCGCAGGCTGCATCCAT 0.488000 20 31 3.99206e-14 6.73457e-14 0.007413 1 0 PPIP5K2 23262 broad.mit.edu 37 5 102469323 102469323 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:102469323G>A ENST00000321521.9 + 3 854 c.281G>A c.(280-282)tGt>tAt p.C94Y PPIP5K2_ENST00000358359.3_Missense_Mutation_p.C94Y|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.C94Y|PPIP5K2_ENST00000513500.1_3'UTR O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 94 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity p.C94Y(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TGGCCTTTATGTGATTGTCTT 0.328000 22 67 0 0 0.003330 0 0 SOHLH1 402381 broad.mit.edu 37 9 138589372 138589372 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:138589372C>A ENST00000298466.5 - 4 507 c.447G>T c.(445-447)acG>acT p.T149T SOHLH1_ENST00000425225.1_Silent_p.T149T NM_001012415.2 NP_001012415.2 Q5JUK2 SOLH1_HUMAN spermatogenesis and oogenesis specific basic helix-loop-helix 1 149 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding p.T149T(2) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1) 12 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) TGGACGCTCCCGTCCCAGGGT 0.602000 7 25 0.000157383 0.000191818 0.003080 1 0 OR2T6 254879 broad.mit.edu 37 1 248551682 248551682 + Missense_Mutation SNP C C T rs141134612 by1000genomes TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:248551682C>T ENST00000355728.2 + 1 773 c.773C>T c.(772-774)aCg>aTg p.T258M NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T258M(1) endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCCTTGTATACGTATACGCTT 0.473000 21 83 0 0 0.008871 0 0 SLC16A7 9194 broad.mit.edu 37 12 60168526 60168526 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:60168526C>T ENST00000261187.4 + 4 614 c.450C>T c.(448-450)gcC>gcT p.A150A SLC16A7_ENST00000552024.1_Silent_p.A150A|SLC16A7_ENST00000552432.1_Silent_p.A150A|SLC16A7_ENST00000547379.1_Silent_p.A150A|SLC16A7_ENST00000543448.1_Silent_p.A51A NM_001270622.1|NM_001270623.1|NM_004731.3 NP_001257551.1|NP_001257552.1|NP_004722.2 O60669 MOT2_HUMAN solute carrier family 16 (monocarboxylate transporter), member 7 150 integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity p.A150A(1) endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1) 30 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) ATGGATTGGCCATGGCAGGAA 0.418000 27 45 0 0 0.003954 0 0 ATAD3B 83858 broad.mit.edu 37 1 1420477 1420477 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:1420477C>T ENST00000308647.7 + 8 948 c.832C>T c.(832-834)Cgg>Tgg p.R278W NM_031921.4 NP_114127.3 Q5T9A4 ATD3B_HUMAN ATPase family, AAA domain containing 3B 278 ATP binding|nucleoside-triphosphatase activity p.R278W(1) endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CATCGAGGCTCGGCTGGGGAA 0.682000 4 13 0 0 0.000248 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125261889 125261889 + Nonsense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:125261889C>A ENST00000431078.1 + 8 1444 c.1080C>A c.(1078-1080)tgC>tgA p.C360* NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 360 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CTTTTTCCTGCTCCGAACCAC 0.458000 4 114 3.59834e-05 4.50131e-05 0.001168 1 0 ZC3H7B 23264 broad.mit.edu 37 22 41745200 41745200 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:41745200G>T ENST00000352645.4 + 16 2100 c.1843G>T c.(1843-1845)Gac>Tac p.D615Y ZC3H7B_ENST00000351589.4_Missense_Mutation_p.D615Y NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 631 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding p.D615Y(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CTTCCAGTTCGACGTGTGCCG 0.647000 14 98 3.32936e-07 4.56001e-07 0.006122 1 0 FOXR2 139628 broad.mit.edu 37 X 55651049 55651049 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:55651049C>A ENST00000339140.3 + 1 1217 c.905C>A c.(904-906)cCa>cAa p.P302Q NM_198451.3 NP_940853.1 Q6PJQ5 FOXR2_HUMAN forkhead box R2 302 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.P302Q(1) biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 ATGAGTCAGCCAGAGTTGTTG 0.483000 14 26 0.000219431 0.000266659 0.002450 1 0 PABPC3 5042 broad.mit.edu 37 13 25671349 25671349 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:25671349T>A ENST00000281589.3 + 1 1050 c.1013T>A c.(1012-1014)gTa>gAa p.V338E NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 338 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding p.V338E(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TTTGGTTTTGTATGTTTCTCC 0.438000 43 152 0 0 0.002852 0 0 LAMC3 10319 broad.mit.edu 37 9 133962940 133962940 + Silent SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:133962940G>C ENST00000361069.4 + 26 4441 c.4308G>C c.(4306-4308)acG>acC p.T1436T LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 1436 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity p.T1436T(2) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CGCAAGCCACGCTCCAACAGG 0.657000 16 44 0 0 0.003163 0 0 ZNF521 25925 broad.mit.edu 37 18 22807073 22807073 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr18:22807073G>T ENST00000361524.3 - 4 957 c.809C>A c.(808-810)cCc>cAc p.P270H ZNF521_ENST00000538137.2_Missense_Mutation_p.P270H|ZNF521_ENST00000584787.1_Missense_Mutation_p.P50H NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 270 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding p.P270H(1) NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GGAGCATTCGGGGTGGCACTC 0.552000 T PAX5 ALL 10 102 5.16669e-11 8.14501e-11 0.000978 1 0 HIST1H2BH 8345 broad.mit.edu 37 6 26252083 26252083 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:26252083G>C ENST00000356350.2 + 1 205 c.205G>C c.(205-207)Gat>Cat p.D69H NM_003524.2 NP_003515.1 Q93079 H2B1H_HUMAN histone cluster 1, H2bh 69 nucleosome assembly nucleosome|nucleus DNA binding p.D69H(1) NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 17 CTTTGTCAACGATATCTTCGA 0.567000 64 121 0 0 0.003610 0 0 CPA2 1358 broad.mit.edu 37 7 129906792 129906792 + Splice_Site SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:129906792G>T ENST00000222481.4 + 1 126 c.71_splice c.e1+1 p.G24_splice NM_001869.2 NP_001860.2 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) 24 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding p.G22V(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Melanoma(18;0.0435) ACATTTGTGGGGTAAGTTATG 0.403000 10 189 4.68919e-08 6.70461e-08 0.008291 1 0 COPZ2 51226 broad.mit.edu 37 17 46111234 46111234 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:46111234G>T ENST00000006101.4 - 4 256 c.257C>A c.(256-258)aCt>aAt p.T86N COPZ2_ENST00000584666.1_5'UTR NM_016429.2 NP_057513.1 Q9P299 COPZ2_HUMAN coatomer protein complex, subunit zeta 2 88 intracellular protein transport|vesicle-mediated transport cis-Golgi network|COPI vesicle coat p.T86N(1) lung(3)|upper_aerodigestive_tract(1) 4 CTTACTCTCAGTCCGGCTGGT 0.488000 3 17 6.4e-05 7.95385e-05 0.004672 1 0 KCNB2 9312 broad.mit.edu 37 8 73848595 73848595 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:73848595G>T ENST00000523207.1 + 3 1593 c.1005G>T c.(1003-1005)ttG>ttT p.L335F NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 335 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.L335F(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) ACAATGAATTGGGCTTGTTGA 0.473000 35 94 1.414e-09 2.1358e-09 0.003755 1 0 LRRTM1 347730 broad.mit.edu 37 2 80530201 80530201 + Silent SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:80530201C>G ENST00000295057.3 - 2 1400 c.744G>C c.(742-744)gtG>gtC p.V248V CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.V248V|CTNNA2_ENST00000541047.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 248 axon|endoplasmic reticulum membrane|growth cone|integral to membrane p.V248V(2) NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 GCGAGCTGACCACAATGGCCA 0.592000 HNSCC(69;0.2) 19 56 0 0 0.006122 0 0 C6orf223 221416 broad.mit.edu 37 6 43970830 43970830 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:43970830G>T ENST00000336600.5 + 4 716 c.696G>T c.(694-696)gcG>gcT p.A232A C6orf223_ENST00000439969.2_3'UTR|RP5-1120P11.1_ENST00000422059.1_RNA|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000448947.2_3'UTR NM_001171992.1|NM_153246.4 NP_001165463.1|NP_694978.2 Q8N319 CF223_HUMAN chromosome 6 open reading frame 223 232 p.A232A(1) central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1) 6 all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437) all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217) CATCCGCGGCGCTCCGCGGCG 0.662000 14 45 1.37285e-15 2.38632e-15 0.004007 1 0 ASB4 51666 broad.mit.edu 37 7 95125234 95125234 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:95125234G>T ENST00000325885.5 + 2 423 c.352G>T c.(352-354)Gcc>Tcc p.A118S ASB4_ENST00000428113.1_Missense_Mutation_p.A118S|ASB4_ENST00000257621.4_3'UTR NM_016116.2 NP_057200.1 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box containing 4 118 intracellular signal transduction p.A118S(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) TTGTGAAATGGCCAATGTGGA 0.468000 17 64 6.49762e-13 1.06476e-12 0.006122 1 0 FBP2 8789 broad.mit.edu 37 9 97325681 97325681 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:97325681G>T ENST00000375337.3 - 6 834 c.768C>A c.(766-768)acC>acA p.T256T PCAT7_ENST00000452148.2_RNA NM_003837.2 NP_003828.2 O00757 F16P2_HUMAN fructose-1,6-bisphosphatase 2 256 fructose metabolic process|gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding p.T256T(1) endometrium(1)|large_intestine(3)|lung(5) 9 Acute lymphoblastic leukemia(62;0.136) CATAGACCAGGGTGCGGTGCA 0.572000 7 64 2.0095e-06 2.67503e-06 0.001984 1 0 HSD17B7P2 158160 broad.mit.edu 37 10 38647334 38647334 + RNA SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:38647334G>T ENST00000494540.1 + 0 205 NR_003086.1 GGCAGAAGCTGTCTGTGCTGC 0.577000 8 54 0.00307968 0.00358504 0.003080 1 0 ABCC12 94160 broad.mit.edu 37 16 48117856 48117856 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:48117856G>T ENST00000311303.3 - 28 4302 c.3957C>A c.(3955-3957)ctC>ctA p.L1319L ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 1319 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.L1319L(1) NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) GATCGCAGTTGAGAACTGTGT 0.512000 31 105 7.72975e-29 1.50427e-28 0.002836 1 0 DGKI 9162 broad.mit.edu 37 7 137075975 137075975 + Silent SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:137075975A>G ENST00000453654.1 - 33 2735 c.2196T>C c.(2194-2196)acT>acC p.T732T DGKI_ENST00000288490.5_Silent_p.T1063T|DGKI_ENST00000446122.1_Silent_p.T1045T|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000424189.2_Silent_p.T1076T O75912 DGKI_HUMAN diacylglycerol kinase, iota 1063 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding p.T1063T(2) breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GTCAAACAGCAGTTTCCAGGT 0.532000 28 105 0 0 0.002836 0 0 PROS1 5627 broad.mit.edu 37 3 93605240 93605240 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:93605240C>T ENST00000394236.3 - 11 1579 c.1263G>A c.(1261-1263)ctG>ctA p.L421L PROS1_ENST00000407433.1_Silent_p.L290L NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 421 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity p.E422*(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) CTTTGGTTTCCAGCAATCCAT 0.373000 41 196 0 0 0.002522 0 0 HOXC13 3229 broad.mit.edu 37 12 54333267 54333267 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:54333267G>T ENST00000243056.3 + 1 733 c.577G>T c.(577-579)Gtg>Ttg p.V193L HOXC-AS5_ENST00000512916.2_RNA NM_017410.2 NP_059106.2 P31276 HXC13_HUMAN homeobox C13 193 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.V193L(1) breast(1)|large_intestine(1)|skin(1) 3 GGACGTGTCGGTGGTGCCCGG 0.672000 T NUP98 AML 10 15 3.86212e-05 4.81677e-05 0.008291 1 0 PKD2 5311 broad.mit.edu 37 4 88989119 88989119 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:88989119G>A ENST00000237596.2 + 13 2494 c.2428G>A c.(2428-2430)Gat>Aat p.D810N PKD2_ENST00000502363.1_Missense_Mutation_p.D228N|PKD2_ENST00000508588.1_Missense_Mutation_p.D228N|PKD2_ENST00000511337.1_3'UTR NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 810 Linker. basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity p.D810N(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) TCGAAGCCTGGATGACTCTGA 0.502000 7 54 0 0 0.001984 0 0 SPANXN2 494119 broad.mit.edu 37 X 142803913 142803913 + Translation_Start_Site SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:142803913T>A ENST00000370498.1 - 0 603 NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) ACTCTTGAGCTTTGTTTGATC 0.542000 5 6 0 0 0.000602 0 0 SEC23IP 11196 broad.mit.edu 37 10 121671606 121671606 + Silent SNP G G T rs146017364 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:121671606G>T ENST00000369075.3 + 6 1314 c.1242G>T c.(1240-1242)acG>acT p.T414T SEC23IP_ENST00000543134.1_Silent_p.T203T NM_007190.3 NP_009121.1 Q9Y6Y8 S23IP_HUMAN SEC23 interacting protein 414 Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding p.T414T(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 36 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) GGGGCACCACGCAAGATGGAC 0.438000 22 82 2.98393e-07 4.12777e-07 0.002780 1 0 CNTNAP4 85445 broad.mit.edu 37 16 76350378 76350378 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:76350378A>T ENST00000307431.8 + 3 536 c.151A>T c.(151-153)Agc>Tgc p.S51C CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S51C|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S55C|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S27C|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 52 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding p.S27C(2)|p.S51C(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CGAGCTCTCCAGCAGTCATGG 0.473000 6 34 0 0 0.001984 0 0 DIDO1 11083 broad.mit.edu 37 20 61537159 61537159 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:61537159C>T ENST00000370371.4 - 6 2023 c.1668G>A c.(1666-1668)ctG>ctA p.L556L DIDO1_ENST00000395343.1_Intron|DIDO1_ENST00000354665.4_Silent_p.L556L|DIDO1_ENST00000395340.1_Intron|DIDO1_ENST00000395335.2_Intron|DIDO1_ENST00000266071.5_Intron|DIDO1_ENST00000266070.4_Intron|DIDO1_ENST00000370366.1_Intron|DIDO1_ENST00000370368.1_Silent_p.L556L NM_022105.4 NP_071388.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 0 A -> T (in dbSNP:rs1883847). apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.L556L(1) NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CTGCAACTCCCAGTCCTGGAC 0.572000 7 78 0 0 0.001984 0 0 CRYGD 1421 broad.mit.edu 37 2 208988977 208988977 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:208988977G>T ENST00000264376.4 - 2 138 c.111C>A c.(109-111)cgC>cgA p.R37R NM_006891.3 NP_008822.2 P07320 CRGD_HUMAN crystallin, gamma D 37 Beta/gamma crystallin 'Greek key' 1. R -> S (in a patient with cataract; very low solubility; crystallizes spontaneously). cellular response to reactive oxygen species|visual perception soluble fraction protein binding|structural constituent of eye lens p.R37R(1) breast(1)|endometrium(1)|lung(3) 5 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) CGCTGTCCACGCGCGCCGAGT 0.652000 7 13 0.00198382 0.00231911 0.001984 1 0 CSMD3 114788 broad.mit.edu 37 8 113668414 113668414 + Silent SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:113668414A>T ENST00000297405.5 - 18 3217 c.2973T>A c.(2971-2973)cgT>cgA p.R991R CSMD3_ENST00000343508.3_Silent_p.R951R|CSMD3_ENST00000352409.3_Silent_p.R991R|CSMD3_ENST00000455883.2_Silent_p.R887R NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 991 CUB 5. integral to membrane|plasma membrane p.R991R(1)|p.R951R(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CATTATTGGAACGACTGTTGT 0.323000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 17 76 0 0 0.007413 0 0 TRBV2 28620 broad.mit.edu 37 7 142000998 142000998 + RNA SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:142000998G>T ENST00000455382.2 + 0 164 CCAGCCATCAGGTCACACAGA 0.438000 5 29 8.12818e-05 0.000100244 0.001984 1 0 TBX18 9096 broad.mit.edu 37 6 85446572 85446572 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:85446572C>A ENST00000369663.5 - 8 1992 c.1655G>T c.(1654-1656)gGa>gTa p.G552V TBX18_ENST00000606784.1_Intron NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 552 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.G552V(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CAAGAAACTTCCTTGGGAAGA 0.512000 16 121 1.99824e-07 2.77347e-07 0.004990 1 0 OR5K4 403278 broad.mit.edu 37 3 98073305 98073305 + Nonsense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:98073305C>A ENST00000354924.2 + 1 608 c.608C>A c.(607-609)tCa>tAa p.S203* RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005517.1 NP_001005517.1 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, member 4 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S203*(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 TATATCTTTTCAATACCAATT 0.328000 18 76 2.35188e-11 3.74317e-11 0.006122 1 0 IL4R 3566 broad.mit.edu 37 16 27374420 27374420 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:27374420G>A ENST00000395762.2 + 11 2006 c.1747G>A c.(1747-1749)Gag>Aag p.E583K IL4R_ENST00000380922.3_Missense_Mutation_p.E568K|IL4R_ENST00000170630.2_Missense_Mutation_p.E583K|IL4R_ENST00000543915.2_Missense_Mutation_p.E583K NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 583 Required for IL4-induced gene expression. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity p.E583K(1) breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 ACATGCGGTGGAGCAGGGTGG 0.647000 11 45 0 0 0.000978 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84609611 84609611 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:84609611C>G ENST00000344803.2 + 4 4273 c.4226C>G c.(4225-4227)aCt>aGt p.T1409S NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 p.T1409S(2) AGGAAAGACACTAGGGAGTTC 0.493000 3 22 0 0 0.000248 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130828276 130828276 + Splice_Site SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:130828276T>A ENST00000509018.1 - 14 1935 c.1731_splice c.e14+1 p.Q577_splice RAPGEF6_ENST00000507093.1_Splice_Site_p.Q577_splice|RAPGEF6_ENST00000510071.1_Splice_Site_p.Q577_splice|RAPGEF6_ENST00000296859.6_Splice_Site_p.Q577_splice|FNIP1_ENST00000514667.1_Splice_Site_p.Q627_splice|RAPGEF6_ENST00000307984.5_Splice_Site_p.Q577_splice|RAPGEF6_ENST00000512052.1_Splice_Site_p.Q292_splice|RAPGEF6_ENST00000308008.6_Splice_Site_p.Q577_splice NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 577 PDZ. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding p.Q577L(3)|p.Q627L(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) TTTCCTTACCTGATCACCACG 0.403000 29 59 0 0 0.001786 0 0 SNX30 401548 broad.mit.edu 37 9 115600941 115600941 + Silent SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:115600941G>C ENST00000374232.3 + 6 1142 c.978G>C c.(976-978)gtG>gtC p.V326V NM_001012994.1 NP_001013012.1 Q5VWJ9 SNX30_HUMAN sorting nexin family member 30 326 cell communication|protein transport cytoplasm phosphatidylinositol binding p.V326V(1) large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 TCCTACCTGTGCTCAGGGAAT 0.438000 17 100 0 0 0.004990 0 0 NOS1AP 9722 broad.mit.edu 37 1 162337164 162337164 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:162337164C>A ENST00000493151.1 + 2 2910 c.543C>A c.(541-543)cgC>cgA p.R181R NOS1AP_ENST00000361897.5_Silent_p.R476R|NOS1AP_ENST00000530878.1_Silent_p.R471R|NOS1AP_ENST00000454693.1_3'UTR|RP11-565P22.6_ENST00000431696.1_Intron NM_001126060.1 NP_001119532.2 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 476 PID. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding p.R476R(2)|p.R181R(1) NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) GCGAGGAGCGCGACTCGTGGT 0.657000 6 13 0.00116845 0.00137464 0.001168 1 0 GPR97 222487 broad.mit.edu 37 16 57712138 57712138 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:57712138C>A ENST00000333493.4 + 4 563 c.402C>A c.(400-402)ccC>ccA p.P134P GPR97_ENST00000327655.6_5'UTR|GPR97_ENST00000450388.3_Silent_p.P14P NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 134 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.P134P(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TGCGACTTCCCAAGAGCCTTT 0.582000 13 65 9.31168e-06 1.20667e-05 0.001855 1 0 FOLH1B 219595 broad.mit.edu 37 11 89420530 89420530 + RNA SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:89420530G>A ENST00000532352.1 + 0 1345 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity p.E178K(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 AAGCCCTGATGAAGGCTTTGA 0.343000 5 90 0 0 0.000602 0 0 USH2A 7399 broad.mit.edu 37 1 216420110 216420110 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:216420110C>A ENST00000366943.2 - 13 3012 c.2626G>T c.(2626-2628)Ggt>Tgt p.G876C USH2A_ENST00000307340.3_Missense_Mutation_p.G876C|USH2A_ENST00000366942.3_Missense_Mutation_p.G876C O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 876 Laminin EGF-like 7. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.G876C(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CAGCGAAGACCTGTTACCCCT 0.448000 HNSCC(13;0.011) 39 225 4.90274e-10 7.53569e-10 0.006230 1 0 STC2 8614 broad.mit.edu 37 5 172753012 172753012 + Splice_Site SNP C C T rs145449570 byFrequency TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:172753012C>T ENST00000265087.4 - 2 1462 c.151_splice c.e2-1 p.A51_splice NM_003714.2 NP_003705.1 O76061 STC2_HUMAN stanniocalcin 2 51 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity p.A51A(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3) 25 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GCTGGATCTCCGCTAAAAGGA 0.413000 41 107 0 0 0.002222 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39178249 39178249 + Missense_Mutation SNP T T G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:39178249T>G ENST00000297668.6 - 5 720 c.647A>C c.(646-648)cAg>cCg p.Q216P CNTNAP3_ENST00000377656.2_Missense_Mutation_p.Q216P|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.Q128P|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.Q216P|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.Q216P NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 216 Laminin G-like 1. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding p.Q216P(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TCCATTGCTCTGCATGGCTTT 0.323000 14 206 0 0 0.001855 0 0 KCNC4 3749 broad.mit.edu 37 1 110768730 110768730 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:110768730C>T ENST00000369787.3 + 3 1776 c.1749C>T c.(1747-1749)aaC>aaT p.N583N KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Silent_p.N583N|KCNC4_ENST00000413138.3_Silent_p.N583N NM_004978.4 NP_004969.2 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 583 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.N583N(2) central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) GAGACAGAAACAAGAAGGCAG 0.647000 12 39 0 0 0.001368 0 0 DIAPH2 1730 broad.mit.edu 37 X 96328001 96328001 + Missense_Mutation SNP A A C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:96328001A>C ENST00000324765.8 + 18 2459 c.2112A>C c.(2110-2112)aaA>aaC p.K704N DIAPH2_ENST00000355827.4_Missense_Mutation_p.K704N|DIAPH2_ENST00000373049.4_Missense_Mutation_p.K704N|DIAPH2_ENST00000373061.3_Missense_Mutation_p.K704N|DIAPH2_ENST00000373054.4_Missense_Mutation_p.K700N O60879 DIAP2_HUMAN diaphanous-related formin 2 704 FH2. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding p.K704N(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 AGAAAGTGAAAGAACTGAGAA 0.378000 3 21 0 0 0.000602 0 0 TFIP11 24144 broad.mit.edu 37 22 26902740 26902740 + Splice_Site SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:26902740C>T ENST00000407690.1 - 5 647 c.e5+1 TFIP11_ENST00000407431.1_Splice_Site|TFIP11_ENST00000407148.1_Splice_Site|TFIP11_ENST00000405938.1_Splice_Site NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity p.?(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 ATAGAGACTACCGTTTTTAGC 0.458000 15 78 0 0 0.004990 0 0 RADIL 55698 broad.mit.edu 37 7 4874576 4874576 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:4874576G>T ENST00000399583.3 - 4 1265 c.1078C>A c.(1078-1080)Cag>Aag p.Q360K RADIL_ENST00000538469.1_Missense_Mutation_p.Q120K|RADIL_ENST00000536091.1_Missense_Mutation_p.Q360K NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 360 FHA. cell adhesion|multicellular organismal development|signal transduction protein binding p.Q360K(1) NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) GGCTGGGCCTGCGCGGGGTCC 0.746000 5 12 5.9392e-07 8.08784e-07 0.001168 1 0 CCL15 6359 broad.mit.edu 37 17 34325363 34325363 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:34325363C>T ENST00000354059.4 - 3 753 c.201G>A c.(199-201)atG>atA p.M67I CCL14_ENST00000536149.1_5'UTR|CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.M67I NM_032965.4 NP_116741.1 Q16663 CCL15_HUMAN chemokine (C-C motif) ligand 15 67 cell-cell signaling|cellular calcium ion homeostasis|immune response extracellular space chemoattractant activity|chemokine activity|heparin binding|signal transducer activity p.M67I(1) large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1) 8 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AATAACTTTTCATGAGTGAAC 0.502000 17 36 0 0 0.001523 0 0 RYR2 6262 broad.mit.edu 37 1 237947327 237947327 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:237947327C>A ENST00000366574.2 + 90 12632 c.12315C>A c.(12313-12315)ctC>ctA p.L4105L RYR2_ENST00000360064.6_Silent_p.L4111L|RYR2_ENST00000542537.1_Silent_p.L4089L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4105 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.L4103L(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGACAAACCTCTCTGAGCACA 0.512000 9 42 0.00448238 0.00518158 0.004482 1 0 MAATS1 89876 broad.mit.edu 37 3 119466073 119466073 + Nonsense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:119466073G>T ENST00000273390.5 + 15 2091 c.2014G>T c.(2014-2016)Gag>Tag p.E672* RP11-169N13.4_ENST00000489428.2_RNA NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 p.E672*(1) GAAGATGGCTGAGAAAATCAA 0.393000 14 46 0.000219431 0.000266659 0.002450 1 0 MUC17 140453 broad.mit.edu 37 7 100680500 100680500 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:100680500A>T ENST00000306151.4 + 3 5867 c.5803A>T c.(5803-5805)Acc>Tcc p.T1935S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1935 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.T1935S(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACCTGTCAGCACCACAACAGT 0.488000 32 454 0 0 0.001786 0 0 KIR2DL4 3805 broad.mit.edu 37 19 55325168 55325168 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:55325168C>A ENST00000396284.2 + 7 895 c.895C>A c.(895-897)Cct>Act p.P299T KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000346587.4_Missense_Mutation_p.P149T|KIR2DL4_ENST00000396293.1_Missense_Mutation_p.P132T|KIR2DL4_ENST00000345540.5_Missense_Mutation_p.P244T|KIR2DL4_ENST00000357494.4_Missense_Mutation_p.P227T|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000359085.4_3'UTR killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 p.P244T(1) NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) GAACCAAGAGCCTGCGGGACA 0.493000 31 43 9.73076e-26 1.8631e-25 0.006999 1 0 CTSF 8722 broad.mit.edu 37 11 66335115 66335115 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:66335115G>C ENST00000310325.5 - 3 440 c.331C>G c.(331-333)Ctg>Gtg p.L111V CTSF_ENST00000533168.1_5'UTR NM_003793.3 NP_003784.2 Q9UBX1 CATF_HUMAN cathepsin F 111 proteolysis lysosome cysteine-type endopeptidase activity p.L111V(1) endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 19 AGCTCATCCAGGACTTGGAAG 0.612000 13 103 0 0 0.002450 0 0 SPARC 6678 broad.mit.edu 37 5 151054176 151054176 + Silent SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:151054176A>T ENST00000231061.4 - 3 430 c.117T>A c.(115-117)acT>acA p.T39T NM_003118.3 NP_003109.1 P09486 SPRC_HUMAN secreted protein, acidic, cysteine-rich (osteonectin) 39 Asp/Glu-rich (acidic; binds calcium). ossification|platelet activation|platelet degranulation|signal transduction basement membrane|extracellular space|platelet alpha granule lumen calcium ion binding|collagen binding p.T39T(1) central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(196;0.109)|all_hematologic(541;0.122) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) OV - Ovarian serous cystadenocarcinoma(192;0.00118) Becaplermin(DB00102) CACATACCTCAGTCACCTCTG 0.542000 44 89 0 0 0.002522 0 0 MCF2L 23263 broad.mit.edu 37 13 113729424 113729424 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:113729424G>T ENST00000397030.1 + 11 1365 c.1328G>T c.(1327-1329)tGt>tTt p.C443F MCF2L_ENST00000375608.3_Missense_Mutation_p.C440F|MCF2L_ENST00000434480.2_Missense_Mutation_p.C416F|MCF2L_ENST00000421756.1_Missense_Mutation_p.C414F|MCF2L_ENST00000375604.2_Missense_Mutation_p.C467F|MCF2L_ENST00000442652.2_Missense_Mutation_p.C440F|MCF2L_ENST00000535094.2_Missense_Mutation_p.C410F|MCF2L_ENST00000375597.4_Missense_Mutation_p.C408F|MCF2L_ENST00000375601.3_Missense_Mutation_p.C414F|MCF2L_ENST00000423482.2_Missense_Mutation_p.C408F O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 440 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity p.C414F(1)|p.C467F(1) kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) CGGCACCTCTGTGACCAGTTC 0.667000 13 68 7.03913e-09 1.0433e-08 0.001368 1 0 RP1L1 94137 broad.mit.edu 37 8 10467868 10467868 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:10467868G>A ENST00000382483.3 - 4 3963 c.3740C>T c.(3739-3741)cCa>cTa p.P1247L NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1247 intracellular signal transduction p.P1247L(1) breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CAGATCCCCTGGGCTCTCATA 0.552000 12 45 0 0 0.000978 0 0 SORCS3 22986 broad.mit.edu 37 10 106960943 106960943 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:106960943C>T ENST00000369701.3 + 16 2420 c.2193C>T c.(2191-2193)gcC>gcT p.A731A SORCS3_ENST00000369699.4_Silent_p.A17A NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 731 integral to membrane neuropeptide receptor activity p.A731A(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CTCAGTGTGCCCTGGGCCGAG 0.478000 20 64 0 0 0.007413 0 0 ABCA6 23460 broad.mit.edu 37 17 67103890 67103890 + Nonsense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:67103890G>C ENST00000284425.2 - 18 2510 c.2336C>G c.(2335-2337)tCa>tGa p.S779* NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 779 transport integral to membrane ATP binding|ATPase activity p.S779*(1) breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) ATTTAGAGTTGACATGGAAAT 0.353000 6 72 0 0 0.001168 0 0 FSCN3 29999 broad.mit.edu 37 7 127238614 127238614 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:127238614C>T ENST00000265825.5 + 4 1305 c.1086C>T c.(1084-1086)ccC>ccT p.P362P FSCN3_ENST00000420086.2_Silent_p.P228P NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 362 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging p.P362P(1) endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 GCATTGCACCCAACAGCCTGC 0.567000 35 126 0 0 0.004878 0 0 PDE1C 5137 broad.mit.edu 37 7 31877505 31877505 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:31877505G>A ENST00000396184.3 - 11 1265 c.1061C>T c.(1060-1062)aCt>aTt p.T354I PDE1C_ENST00000396182.2_Missense_Mutation_p.T354I|PDE1C_ENST00000396193.1_Missense_Mutation_p.T414I|PDE1C_ENST00000321453.7_Missense_Mutation_p.T354I|PDE1C_ENST00000396191.1_Missense_Mutation_p.T354I NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 354 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.T354I(2)|p.T414I(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CTGCAGAGCAGTCTTCATTGC 0.433000 68 287 0 0 0.003610 0 0 GPR156 165829 broad.mit.edu 37 3 119887165 119887165 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:119887165T>A ENST00000464295.1 - 10 1604 c.1159A>T c.(1159-1161)Atg>Ttg p.M387L GPR156_ENST00000461057.1_Missense_Mutation_p.M383L|GPR156_ENST00000315843.3_Missense_Mutation_p.M387L Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 387 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity p.M387L(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) TCAGCTGACATCAGCCTCACA 0.512000 25 49 0 0 0.003954 0 0 N4BP1 9683 broad.mit.edu 37 16 48576960 48576960 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:48576960C>A ENST00000262384.3 - 7 2782 c.2546G>T c.(2545-2547)aGa>aTa p.R849I N4BP1_ENST00000565423.1_5'UTR NM_153029.3 NP_694574.3 O75113 N4BP1_HUMAN NEDD4 binding protein 1 849 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body p.R896I(1)|p.R849I(1) breast(3)|kidney(2)|lung(11)|urinary_tract(1) 17 all_cancers(37;0.179)|all_lung(18;0.11) TGCAGAAGATCTCTGAGCTGG 0.582000 7 56 8.12818e-05 0.000100244 0.001984 1 0 ADAM12 8038 broad.mit.edu 37 10 127782644 127782644 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:127782644T>C ENST00000368679.4 - 11 1373 c.1064A>G c.(1063-1065)aAt>aGt p.N355S ADAM12_ENST00000368676.4_Missense_Mutation_p.N355S NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 355 Peptidase M12B. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding p.N355S(3) biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CATCCCGAAATTGTGGCCCAG 0.502000 16 54 0 0 0.004007 0 0 HTR5A 3361 broad.mit.edu 37 7 154862664 154862664 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:154862664G>C ENST00000287907.2 + 1 631 c.55G>C c.(55-57)Gag>Cag p.E19Q AC093726.4_ENST00000395731.2_Intron|AC093726.4_ENST00000493904.1_Intron|AC093726.4_ENST00000543018.1_Intron NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 19 integral to plasma membrane serotonin receptor activity p.E19Q(1) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CTCCCCTTTGGAGACCAACCA 0.597000 22 120 0 0 0.002780 0 0 ADI1 55256 broad.mit.edu 37 2 3504654 3504654 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:3504654G>A ENST00000382093.5 - 3 3170 c.333C>T c.(331-333)atC>atT p.I111I ADI1_ENST00000327435.6_Silent_p.I117I Q9BV57 MTND_HUMAN acireductone dioxygenase 1 117 L-methionine salvage from methylthioadenosine cytoplasm|nucleus|plasma membrane acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding p.I117I(1) breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1) 10 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228) TCTCCATGAAGATCCGGATCC 0.582000 7 39 0 0 0.006214 0 0 HTR1F 3355 broad.mit.edu 37 3 88039965 88039965 + Silent SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:88039965C>G ENST00000319595.4 + 1 120 c.66C>G c.(64-66)tcC>tcG p.S22S NM_000866.3 NP_000857.1 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 22 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity p.S22S(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) GAATGCCATCCAAAATTCTGG 0.398000 21 160 0 0 0.003330 0 0 SCN11A 11280 broad.mit.edu 37 3 38888709 38888709 + Missense_Mutation SNP A A C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:38888709A>C ENST00000302328.3 - 26 5050 c.4852T>G c.(4852-4854)Ttg>Gtg p.L1618V SCN11A_ENST00000456224.3_Missense_Mutation_p.L1580V|SCN11A_ENST00000450244.1_Missense_Mutation_p.L1618V NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1618 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.L1618V(1) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TCTTCACCCAAAGGGTCCTCA 0.373000 25 108 0 0 0.007291 0 0 COL4A3BP 10087 broad.mit.edu 37 5 74807074 74807074 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:74807074C>T ENST00000380494.5 - 2 636 c.343G>A c.(343-345)Gag>Aag p.E115K COL4A3BP_ENST00000405807.4_5'UTR|COL4A3BP_ENST00000261415.7_5'UTR NM_001130105.1 NP_001123577.1 Q9Y5P4 C43BP_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) binding protein 0 PH. ER to Golgi ceramide transport|immune response cytosol|endoplasmic reticulum membrane|Golgi apparatus ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity p.E115K(1) breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1) 16 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) CCCGCTCCCTCAGCTGCGCCG 0.687000 4 12 0 0 0.000248 0 0 CACNA1G 8913 broad.mit.edu 37 17 48684342 48684342 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:48684342G>T ENST00000352832.5 + 23 4807 c.4435G>T c.(4435-4437)Gac>Tac p.D1479Y CACNA1G_ENST00000358244.5_Missense_Mutation_p.D1479Y|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D1479Y|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D1479Y|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D1479Y|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D1479Y|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D1479Y|CACNA1G_ENST00000359106.5_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D1479Y|CACNA1G_ENST00000507510.2_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000514079.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D1502Y NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1502 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity p.D1502Y(2)|p.D1479Y(1) breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TGTGGGCGTGGACCAGCAGGT 0.582000 8 42 3.09899e-07 4.25502e-07 0.004482 1 0 ZNF587 84914 broad.mit.edu 37 19 58370797 58370797 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:58370797C>T ENST00000339656.5 + 3 1199 c.1017C>T c.(1015-1017)ctC>ctT p.L339L ZNF814_ENST00000595295.1_Intron|ZNF587_ENST00000419854.1_Silent_p.L296L|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000423137.1_Silent_p.L338L NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 339 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L339L(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) AGGGTAACCTCATTCAACATC 0.453000 63 144 0 0 0.003610 0 0 MDGA2 161357 broad.mit.edu 37 14 47530601 47530601 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:47530601T>A ENST00000426342.1 - 7 1228 c.482A>T c.(481-483)cAg>cTg p.Q161L MDGA2_ENST00000357362.3_Missense_Mutation_p.Q161L|MDGA2_ENST00000439988.2_Missense_Mutation_p.Q390L|MDGA2_ENST00000399232.2_Missense_Mutation_p.Q459L NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 390 Ig-like 2. spinal cord motor neuron differentiation anchored to membrane|plasma membrane p.Q161L(2)|p.Q459L(1) breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 AGGATCAGTCTGTGTAATGAC 0.413000 19 141 0 0 0.008871 0 0 TGOLN2 10618 broad.mit.edu 37 2 85554096 85554096 + Silent SNP A A C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:85554096A>C ENST00000377386.3 - 2 1221 c.759T>G c.(757-759)gtT>gtG p.V253V TGOLN2_ENST00000409015.1_Silent_p.V253V|TGOLN2_ENST00000409232.3_Silent_p.V253V|TGOLN2_ENST00000398263.2_Intron|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Silent_p.V253V O43493 TGON2_HUMAN trans-golgi network protein 2 253 integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding p.V253V(1) GCTGCTCTGGAACCACCTTGT 0.567000 15 139 0 0 0.003163 0 0 COL12A1 1303 broad.mit.edu 37 6 75827165 75827165 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:75827165G>T ENST00000322507.8 - 47 7761 c.7452C>A c.(7450-7452)gaC>gaA p.D2484E COL12A1_ENST00000483888.2_Missense_Mutation_p.D2484E|COL12A1_ENST00000416123.2_Missense_Mutation_p.D2484E|COL12A1_ENST00000345356.6_Missense_Mutation_p.D1320E NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2484 Nonhelical region (NC3).|VWFA 4. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength p.D2484E(1) breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 ATTCAAAGTCGTCCACAATGA 0.423000 7 86 0.00198382 0.00231911 0.001984 1 0 OR2M7 391196 broad.mit.edu 37 1 248487667 248487667 + Silent SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:248487667G>C ENST00000317965.2 - 1 232 c.204C>G c.(202-204)ctC>ctG p.L68L NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L68L(1) breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGAGGTCCATGAGGGACAGTT 0.512000 62 452 0 0 0.003610 0 0 SVIL 6840 broad.mit.edu 37 10 29784046 29784046 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:29784046G>A ENST00000375398.2 - 21 4178 c.3729C>T c.(3727-3729)acC>acT p.T1243T SVIL_ENST00000538146.1_Silent_p.T35T|SVIL_ENST00000355867.4_Silent_p.T1243T|SVIL_ENST00000375400.3_Silent_p.T817T|SVIL_ENST00000535393.1_Silent_p.T157T O95425 SVIL_HUMAN supervillin 1243 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding p.T1243T(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) AAACGGGTGTGGTGCCTCTTG 0.552000 8 31 0 0 0.001368 0 0 PADI4 23569 broad.mit.edu 37 1 17674519 17674519 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:17674519G>A ENST00000375448.4 + 10 1157 c.1131G>A c.(1129-1131)aaG>aaA p.K377K AC004824.2_ENST00000602074.1_Intron|PADI4_ENST00000487048.1_3'UTR NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 377 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity p.K377K(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) GAGGCCTGAAGGAGTTTCCCA 0.567000 5 30 0 0 0.001168 0 0 ADAM2 2515 broad.mit.edu 37 8 39646227 39646227 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:39646227G>T ENST00000265708.4 - 8 706 c.603C>A c.(601-603)gtC>gtA p.V201V ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Silent_p.V201V|ADAM2_ENST00000347580.4_Silent_p.V182V NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 201 Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.V201V(2) haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CTTTTTGAGCGACAACAGTTG 0.289000 4 28 3.59834e-05 4.50131e-05 0.001168 1 0 THEMIS 387357 broad.mit.edu 37 6 128040881 128040881 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:128040881C>A ENST00000368250.1 - 6 2107 c.1609G>T c.(1609-1611)Gtg>Ttg p.V537L THEMIS_ENST00000543064.1_Missense_Mutation_p.V655L|THEMIS_ENST00000537166.1_Missense_Mutation_p.V581L|THEMIS_ENST00000368248.2_Missense_Mutation_p.V616L Q8N1K5 THMS1_HUMAN thymocyte selection associated 616 negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus p.V616L(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TCTTCATCCACCAAATCATTC 0.443000 9 80 3.09899e-07 4.25502e-07 0.004482 1 0 OR4L1 122742 broad.mit.edu 37 14 20528892 20528892 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:20528892C>T ENST00000315683.1 + 1 689 c.689C>T c.(688-690)tCa>tTa p.S230L NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S230L(1) central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AAAAAATCATCACATGGGCTC 0.438000 71 118 0 0 0.003610 0 0 OR51S1 119692 broad.mit.edu 37 11 4869754 4869754 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:4869754C>T ENST00000322101.2 - 1 760 c.685G>A c.(685-687)Ggc>Agc p.G229S MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G229S(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AACACCTTGCCAATCAGGCCA 0.542000 12 35 0 0 0.001368 0 0 BFSP2 8419 broad.mit.edu 37 3 133169234 133169234 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:133169234G>C ENST00000302334.2 + 4 906 c.817G>C c.(817-819)Gag>Cag p.E273Q RP11-91K8.1_ENST00000515542.1_RNA|BFSP2_ENST00000511434.1_3'UTR NM_003571.2 NP_003562.1 Q13515 BFSP2_HUMAN beaded filament structural protein 2, phakinin 273 Rod. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 CGACATCCTTGAGACGATCAG 0.527000 3 106 0 0 0.004672 0 0 SCN11A 11280 broad.mit.edu 37 3 38888711 38888711 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:38888711G>A ENST00000302328.3 - 26 5048 c.4850C>T c.(4849-4851)cCt>cTt p.P1617L SCN11A_ENST00000456224.3_Missense_Mutation_p.P1579L|SCN11A_ENST00000450244.1_Missense_Mutation_p.P1617L NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1617 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.P1617L(1) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TTCACCCAAAGGGTCCTCACT 0.368000 26 104 0 0 0.007291 0 0 PCDH15 65217 broad.mit.edu 37 10 56138610 56138610 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:56138610A>T ENST00000373965.2 - 4 644 c.250T>A c.(250-252)Tgg>Agg p.W84R PCDH15_ENST00000414778.1_Missense_Mutation_p.W89R|PCDH15_ENST00000320301.6_Missense_Mutation_p.W84R|PCDH15_ENST00000373957.3_Missense_Mutation_p.W62R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.W84R|PCDH15_ENST00000373955.1_Missense_Mutation_p.W84R|PCDH15_ENST00000437009.1_Missense_Mutation_p.W84R|PCDH15_ENST00000395440.1_Missense_Mutation_p.W84R|PCDH15_ENST00000395442.1_Missense_Mutation_p.W84R|PCDH15_ENST00000395445.1_Missense_Mutation_p.W84R|PCDH15_ENST00000395446.1_Missense_Mutation_p.W84R|PCDH15_ENST00000395432.2_Missense_Mutation_p.W84R|PCDH15_ENST00000361849.3_Missense_Mutation_p.W84R|PCDH15_ENST00000395438.1_Missense_Mutation_p.W84R|PCDH15_ENST00000395433.1_Missense_Mutation_p.W62R NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 84 Cadherin 1. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.W84R(3)|p.W89R(2) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ATCAACACCCAGTAATCCACA 0.428000 HNSCC(58;0.16) 41 141 0 0 0.002522 0 0 PARK2 5071 broad.mit.edu 37 6 161969909 161969909 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:161969909C>G ENST00000366898.1 - 9 1162 c.1060G>C c.(1060-1062)Ggg>Cgg p.G354R PARK2_ENST00000366892.1_Missense_Mutation_p.G354R|PARK2_ENST00000366894.1_Missense_Mutation_p.G163R|PARK2_ENST00000366896.1_Missense_Mutation_p.G205R|PARK2_ENST00000366897.1_Missense_Mutation_p.G326R|PARK2_ENST00000338468.3_Missense_Mutation_p.G163R NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 354 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding p.G354R(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) CCATTGCCCCCTTCGCAGGTG 0.612000 30 108 0 0 0.007291 0 0 OR10G8 219869 broad.mit.edu 37 11 123900553 123900553 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:123900553C>T ENST00000431524.1 + 1 257 c.224C>T c.(223-225)aCg>aTg p.T75M NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T75M(1) breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TCCACTGTCACGGTGCCCAAA 0.522000 33 150 0 0 0.003271 0 0 GPC6 10082 broad.mit.edu 37 13 94958244 94958244 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:94958244G>A ENST00000377047.4 + 6 1634 c.1019G>A c.(1018-1020)gGa>gAa p.G340E NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 340 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.G340E(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) GTCTTTCAGGGATGTGGTCAG 0.448000 24 251 0 0 0.003954 0 0 SLITRK5 26050 broad.mit.edu 37 13 88329046 88329046 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:88329046G>T ENST00000325089.6 + 2 1622 c.1403G>T c.(1402-1404)aGg>aTg p.R468M SLITRK5_ENST00000400028.3_Missense_Mutation_p.R227M NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 468 integral to membrane p.R468M(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) AATGGCAACAGGATCGAGAGG 0.552000 10 47 3.86212e-05 4.81677e-05 0.008291 1 0 TMPRSS15 5651 broad.mit.edu 37 21 19698799 19698799 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr21:19698799C>T ENST00000284885.3 - 16 1904 c.1871G>A c.(1870-1872)aGa>aAa p.R624K NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 624 CUB 2. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity p.R624K(1) NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 AAACCCTCCTCTTGCCAACAC 0.453000 17 126 0 0 0.008871 0 0 OR8H2 390151 broad.mit.edu 37 11 55873273 55873273 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:55873273A>G ENST00000313503.1 + 1 755 c.755A>G c.(754-756)tAt>tGt p.Y252C NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y252C(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) ACCATCTTTTATAGCACTCTG 0.373000 HNSCC(53;0.14) 32 80 0 0 0.002445 0 0 BIN2 51411 broad.mit.edu 37 12 51717914 51717914 + Translation_Start_Site SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:51717914C>A ENST00000267012.4 - 0 34 BIN2_ENST00000544402.1_Intron|BIN2_ENST00000452142.2_De_novo_Start_OutOfFrame NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 GGCCGCCGCCCTGGCCCCGCG 0.726000 11 17 3.07112e-06 4.04287e-06 0.000978 1 0 MUC17 140453 broad.mit.edu 37 7 100683216 100683216 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:100683216C>T ENST00000306151.4 + 3 8583 c.8519C>T c.(8518-8520)cCt>cTt p.P2840L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2840 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.P2840L(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACCAGCACACCTGTGACCACT 0.473000 130 480 0 0 0.003610 0 0 C5orf58 133874 broad.mit.edu 37 5 169672990 169672990 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:169672990A>G ENST00000521850.1 + 3 1871 c.182A>G c.(181-183)gAc>gGc p.D61G C5orf58_ENST00000517575.1_Intron|C5orf58_ENST00000593851.1_Missense_Mutation_p.D61G C9J3I9 CE058_HUMAN chromosome 5 open reading frame 58 61 p.D61G(1) large_intestine(1)|lung(4)|urinary_tract(1) 6 TTGCTTTGTGACCTTATCCTA 0.348000 14 169 0 0 0.004990 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26428229 26428229 + RNA SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:26428229G>C ENST00000466808.2 + 0 1198 p.?(1) ATTCTGTCAGGGCAAAAGGAG 0.378000 22 49 0 0 0.002299 0 0 DEFB110 245913 broad.mit.edu 37 6 49986799 49986799 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:49986799C>A ENST00000371148.2 - 2 140 c.95G>T c.(94-96)aGg>aTg p.R32M DEFB110_ENST00000393660.2_Intron NM_001037497.1 NP_001032586.1 Q30KQ9 DB110_HUMAN defensin, beta 110 locus 32 defense response to bacterium extracellular region p.R32M(1) endometrium(1)|lung(1)|ovary(1) 3 Lung NSC(77;0.042) GCACTCTCTCCTCAAGTCCAA 0.373000 20 124 2.70639e-06 3.58263e-06 0.002299 1 0 OR5L1 219437 broad.mit.edu 37 11 55579417 55579417 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:55579417C>A ENST00000333973.2 + 1 564 c.475C>A c.(475-477)Cat>Aat p.H159N NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H159N(1)|p.H159Y(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TTCTCTGATTCATTTGTGCTT 0.443000 52 171 2.27781e-18 4.10996e-18 0.003610 1 0 DNAAF3 352909 broad.mit.edu 37 19 55670618 55670618 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:55670618C>A ENST00000527223.2 - 12 1640 c.1639G>T c.(1639-1641)Gcc>Tcc p.A547S CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000587789.2_5'UTR|CTD-2587H24.4_ENST00000587871.1_Missense_Mutation_p.G141V|DNAAF3_ENST00000524407.2_Missense_Mutation_p.A480S|DNAAF3_ENST00000455045.1_Missense_Mutation_p.A426S|DNAAF3_ENST00000391720.4_Missense_Mutation_p.A527S NM_001256714.1 NP_001243643.1 Q8N9W5 CS051_HUMAN dynein, axonemal, assembly factor 3 480 p.A527S(1) AGAGGCTGGGCCAGGATGTCA 0.632000 7 21 5.4927e-09 8.16284e-09 0.004482 1 0 KIAA1257 57501 broad.mit.edu 37 3 128695883 128695883 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:128695883A>T ENST00000265068.5 - 6 1002 c.835T>A c.(835-837)Tct>Act p.S279T KIAA1257_ENST00000515659.1_Missense_Mutation_p.S167T|KIAA1257_ENST00000511438.1_Missense_Mutation_p.S279T|KIAA1257_ENST00000510149.1_5'UTR NM_020741.2 NP_065792.1 Q9ULG3 K1257_HUMAN KIAA1257 279 p.S279T(1) breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 TTCTTGGAAGAAGTTTCGGGC 0.443000 5 73 0 0 0.001168 0 0 NMUR2 56923 broad.mit.edu 37 5 151784225 151784225 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:151784225G>A ENST00000255262.3 - 1 615 c.450C>T c.(448-450)caC>caT p.H150H NMUR2_ENST00000518933.1_Intron NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 150 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity p.H150H(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) CGCGGAACGGGTGTAGGATGG 0.642000 12 57 0 0 0.001368 0 0 OR14A16 284532 broad.mit.edu 37 1 247978337 247978337 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:247978337T>A ENST00000357627.1 - 1 694 c.695A>T c.(694-696)cAg>cTg p.Q232L NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q232L(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 GGCTTTTGACTGGCCTTCTGT 0.408000 5 37 0 0 0.001984 0 0 DTNA 1837 broad.mit.edu 37 18 32459649 32459649 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr18:32459649A>T ENST00000283365.9 + 19 2227 c.1876A>T c.(1876-1878)Agt>Tgt p.S626C DTNA_ENST00000269190.7_Missense_Mutation_p.S684C|DTNA_ENST00000399121.5_Missense_Mutation_p.S630C|DTNA_ENST00000399113.3_Missense_Mutation_p.S683C|DTNA_ENST00000595022.1_Missense_Mutation_p.S623C|DTNA_ENST00000598334.1_Missense_Mutation_p.S623C|DTNA_ENST00000590831.2_Missense_Mutation_p.S109C|DTNA_ENST00000601125.1_Missense_Mutation_p.S305C|DTNA_ENST00000598142.1_Missense_Mutation_p.S626C|DTNA_ENST00000591182.1_Missense_Mutation_p.S331C|DTNA_ENST00000444659.1_Missense_Mutation_p.S683C|DTNA_ENST00000269192.7_Missense_Mutation_p.S392C|DTNA_ENST00000399097.3_Missense_Mutation_p.S331C|DTNA_ENST00000556414.3_Missense_Mutation_p.S335C NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 683 neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding p.S331C(1)|p.S683C(1)|p.S684C(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 GTACATTCACAGTGGAGCTAC 0.453000 11 53 0 0 0.000978 0 0 ECT2 1894 broad.mit.edu 37 3 172474945 172474945 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:172474945A>G ENST00000417960.1 + 5 857 c.380A>G c.(379-381)cAa>cGa p.Q127R ECT2_ENST00000232458.5_Missense_Mutation_p.Q128R|ECT2_ENST00000427830.1_Missense_Mutation_p.Q128R|ECT2_ENST00000392692.3_Missense_Mutation_p.Q159R|ECT2_ENST00000441497.2_Missense_Mutation_p.Q128R|ECT2_ENST00000540509.1_Missense_Mutation_p.Q159R NM_001258316.1 NP_001245245.1 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 128 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity p.Q128R(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) AATTGTTCACAAAAAGGAGAG 0.279000 5 78 0 0 0.000602 0 0 TMEM40 55287 broad.mit.edu 37 3 12777078 12777078 + Missense_Mutation SNP G G A rs147042676 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:12777078G>A ENST00000314124.7 - 11 1014 c.658C>T c.(658-660)Ctc>Ttc p.L220F TMEM40_ENST00000435575.1_Missense_Mutation_p.L144F|TMEM40_ENST00000435218.2_Missense_Mutation_p.L190F|TMEM40_ENST00000264728.8_Missense_Mutation_p.L220F|TMEM40_ENST00000476331.1_5'UTR|TMEM40_ENST00000431022.2_Missense_Mutation_p.L236F NM_018306.2 NP_060776.2 Q8WWA1 TMM40_HUMAN transmembrane protein 40 220 integral to membrane p.L220F(1) breast(1)|large_intestine(3)|lung(5)|urinary_tract(1) 10 TTCTGGAAGAGGGGGATGAAG 0.463000 10 82 0 0 0.000978 0 0 OR2T4 127074 broad.mit.edu 37 1 248525656 248525656 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:248525656C>G ENST00000366475.1 + 1 774 c.774C>G c.(772-774)caC>caG p.H258Q NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H258Q(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCACCATCCACGGGATGAACT 0.512000 29 203 0 0 0.008361 0 0 CENPP 401541 broad.mit.edu 37 9 95375392 95375392 + Silent SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:95375392A>G ENST00000375587.3 + 8 1343 c.828A>G c.(826-828)gaA>gaG p.E276E CENPP_ENST00000375576.1_Silent_p.E90E|CENPP_ENST00000375579.3_Silent_p.E103E NM_001012267.1 NP_001012267.1 Q6IPU0 CENPP_HUMAN centromere protein P 276 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase chromosome, centromeric region|cytosol|nucleoplasm p.E276E(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1) 16 CTGCTCTGGAAAGCCTGATAA 0.473000 10 122 0 0 0.000978 0 0 ZFP37 7539 broad.mit.edu 37 9 115806314 115806314 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:115806314C>A ENST00000374227.3 - 4 611 c.584G>T c.(583-585)aGa>aTa p.R195I ZFP37_ENST00000555206.1_Missense_Mutation_p.R196I|ZFP37_ENST00000553380.1_Missense_Mutation_p.R210I Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 195 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R195I(1) NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 TACACAGTTTCTTGAGTGATC 0.323000 27 144 6.36457e-07 8.65999e-07 0.003954 1 0 GRIN2A 2903 broad.mit.edu 37 16 9934562 9934562 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:9934562C>A ENST00000396573.2 - 8 1902 c.1593G>T c.(1591-1593)acG>acT p.T531T GRIN2A_ENST00000330684.3_Silent_p.T531T|GRIN2A_ENST00000396575.2_Silent_p.T531T|GRIN2A_ENST00000562109.1_Silent_p.T531T|GRIN2A_ENST00000404927.2_Silent_p.T531T|GRIN2A_ENST00000535259.1_Silent_p.T374T NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 531 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.T531T(2) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CACTGATTCCCGTTTCCACAA 0.468000 8 54 0.000274275 0.000330884 0.004482 1 0 OR8U1 219417 broad.mit.edu 37 11 56143193 56143193 + Silent SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:56143193T>C ENST00000302270.1 + 1 94 c.94T>C c.(94-96)Tta>Cta p.L32L NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 p.L32L(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) TGTGCTATTCTTATCCATCTA 0.443000 19 218 0 0 0.006122 0 0 EEFSEC 60678 broad.mit.edu 37 3 127983561 127983561 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:127983561G>T ENST00000254730.6 + 4 777 c.723G>T c.(721-723)atG>atT p.M241I EEFSEC_ENST00000483457.1_Intron NM_021937.3 NP_068756.2 P57772 SELB_HUMAN eukaryotic elongation factor, selenocysteine-tRNA-specific 241 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity p.M241I(1) NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 GCACTGTGATGACAGGGACCA 0.562000 38 111 2.52637e-11 4.01703e-11 0.005524 1 0 FOLH1 2346 broad.mit.edu 37 11 49186290 49186290 + Silent SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:49186290C>G ENST00000340334.7 - 14 1730 c.1362G>C c.(1360-1362)ctG>ctC p.L454L FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000343844.4_Silent_p.L161L|FOLH1_ENST00000533034.1_Silent_p.L454L|FOLH1_ENST00000256999.2_Silent_p.L469L|FOLH1_ENST00000356696.3_Silent_p.L469L NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 469 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity p.L469L(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) AGCTGTACATCAGCGGTGTAC 0.279000 14 14 0 0 0.004990 0 0 TRIP13 9319 broad.mit.edu 37 5 916038 916038 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:916038G>T ENST00000166345.3 + 12 1509 c.1153G>T c.(1153-1155)Ggc>Tgc p.G385C TRIP13_ENST00000510412.1_3'UTR NM_004237.3 NP_004228.1 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 385 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity p.G385C(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 18 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) GGGCCTCAGCGGCCGGGTCCT 0.542000 14 306 2.61681e-11 4.14495e-11 0.002450 1 0 LARP1 23367 broad.mit.edu 37 5 154181811 154181811 + Missense_Mutation SNP G G T rs145327227 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:154181811G>T ENST00000336314.4 + 11 1754 c.1730G>T c.(1729-1731)cGc>cTc p.R577L NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 654 protein binding|RNA binding p.R654L(1)|p.R577L(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CATTACATGCGCCGGCACCCA 0.537000 21 58 1.64293e-13 2.73274e-13 0.003330 1 0 COX10-AS1 100874058 broad.mit.edu 37 17 13927984 13927984 + RNA SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:13927984C>A ENST00000602743.1 - 0 224 ACAGGACAGCCTGGGGCAGGC 0.597000 6 13 2.7689e-08 4.0038e-08 0.001984 1 0 ZBP1 81030 broad.mit.edu 37 20 56191346 56191346 + Silent SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:56191346A>T ENST00000340462.4 - 2 493 c.213T>A c.(211-213)acT>acA p.T71T ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000343535.4_Silent_p.T71T|ZBP1_ENST00000541799.1_Silent_p.T71T|ZBP1_ENST00000371173.3_Silent_p.T71T|ZBP1_ENST00000538947.1_5'UTR Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 71 cytoplasm|nucleus double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding p.T71T(2) large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 27 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) CTTCAGGATCAGTCCCGCCCA 0.612000 9 60 0 0 0.004482 0 0 CD5L 922 broad.mit.edu 37 1 157805936 157805936 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:157805936G>T ENST00000368174.4 - 3 161 c.65C>A c.(64-66)tCt>tAt p.S22Y CD5L_ENST00000484609.1_5'UTR NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 22 apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity p.S22Y(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCGCACTCCAGATGGAGACGC 0.597000 6 59 0.00116845 0.00137464 0.001168 1 0 DDHD1 80821 broad.mit.edu 37 14 53570567 53570567 + Missense_Mutation SNP A A C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:53570567A>C ENST00000357758.3 - 2 1029 c.846T>G c.(844-846)gaT>gaG p.D282E DDHD1_ENST00000323669.5_Missense_Mutation_p.D282E|DDHD1_ENST00000395606.1_Missense_Mutation_p.D282E NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 282 lipid catabolic process cytoplasm hydrolase activity|metal ion binding p.D282E(2) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) CTGGTATTTTATCAGCCTCTG 0.358000 5 31 0 0 0.000602 0 0 FLNC 2318 broad.mit.edu 37 7 128496863 128496863 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:128496863C>T ENST00000325888.8 + 45 7710 c.7449C>T c.(7447-7449)aaC>aaT p.N2483N RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.N2450N NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2483 Interaction with INPPL1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding p.N2483N(2) biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TCAAGTTCAACGGTGCCCACA 0.597000 9 85 0 0 0.006214 0 0 MTHFD2P1 100287639 broad.mit.edu 37 3 95374413 95374413 + RNA SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:95374413G>T ENST00000494840.1 - 0 1448 NR_077228.1 TCCTTGTCTGGAGAAAAAGCA 0.428000 17 55 1.67942e-08 2.45408e-08 0.006122 1 0 LSS 4047 broad.mit.edu 37 21 47611049 47611049 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr21:47611049T>A ENST00000397728.3 - 22 2246 c.2168A>T c.(2167-2169)tAc>tTc p.Y723F LSS_ENST00000457828.2_Missense_Mutation_p.Y643F|LSS_ENST00000522411.1_Missense_Mutation_p.Y712F|LSS_ENST00000356396.4_Missense_Mutation_p.Y723F NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 723 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity p.Y723F(1) cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) TCTCTCAGGGTACAGCTGGGA 0.612000 7 57 0 0 0.001984 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560607 44560607 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr18:44560607G>C ENST00000332567.4 - 1 1381 c.1029C>G c.(1027-1029)gaC>gaG p.D343E KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 343 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding p.D343E(1) breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GAGTCTCTCGGTCGTTGGAAA 0.577000 19 75 0 0 0.007413 0 0 ALK 238 broad.mit.edu 37 2 29519836 29519836 + Silent SNP T T G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:29519836T>G ENST00000389048.3 - 9 2641 c.1735A>C c.(1735-1737)Agg>Cgg p.R579R ALK_ENST00000498037.1_5'UTR|ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 579 MAM 2. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.R579R(1) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CAGACCATCCTGCCTTGCTCC 0.567000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 11 35 0 0 0.000978 0 0 MAPRE2 10982 broad.mit.edu 37 18 32682021 32682021 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr18:32682021G>T ENST00000436190.2 + 5 746 c.472G>T c.(472-474)Gta>Tta p.V158L MAPRE2_ENST00000588910.1_Missense_Mutation_p.V170L|MAPRE2_ENST00000413393.1_Missense_Mutation_p.V127L|MAPRE2_ENST00000589699.1_Missense_Mutation_p.V127L|MAPRE2_ENST00000538170.2_Missense_Mutation_p.V117L|MAPRE2_ENST00000300249.5_Missense_Mutation_p.V170L NM_001143827.2 NP_001137299.1 Q15555 MARE2_HUMAN microtubule-associated protein, RP/EB family, member 2 170 CH. cell division|cell proliferation|mitosis|signal transduction cytoplasm|microtubule microtubule binding p.V170L(1) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 GTATGATCCTGTAGAGGCACG 0.463000 14 74 1.3612e-06 1.83409e-06 0.003163 1 0 ZNF280A 129025 broad.mit.edu 37 22 22868570 22868570 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:22868570G>A ENST00000302097.3 - 2 1637 c.1385C>T c.(1384-1386)aCg>aTg p.T462M NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 462 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T462M(1) endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) CTCCTTCAACGTCAAAAACTG 0.423000 11 139 0 0 0.008291 0 0 SLC26A3 1811 broad.mit.edu 37 7 107432339 107432339 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:107432339C>A ENST00000340010.5 - 4 502 c.318G>T c.(316-318)ttG>ttT p.L106F SLC26A3_ENST00000422236.2_Missense_Mutation_p.L71F NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 106 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity p.L106F(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 AGGATGCATACAACCCATAGA 0.458000 25 87 7.38237e-10 1.12947e-09 0.006320 1 0 SEMA6D 80031 broad.mit.edu 37 15 48062872 48062872 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr15:48062872C>A ENST00000316364.5 + 19 2551 c.2112C>A c.(2110-2112)gcC>gcA p.A704A SEMA6D_ENST00000354744.4_Silent_p.A648A|SEMA6D_ENST00000389432.2_Silent_p.A661A|SEMA6D_ENST00000537942.1_Silent_p.A642A|SEMA6D_ENST00000389433.2_Silent_p.A685A|SEMA6D_ENST00000358066.4_Silent_p.A642A|SEMA6D_ENST00000536845.2_Silent_p.A704A|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389428.3_Silent_p.A629A|SEMA6D_ENST00000558014.1_Silent_p.A642A|SEMA6D_ENST00000355997.3_3'UTR NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 704 axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity p.A704A(1)|p.A642A(1) biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) CAGAGTCCGCCCAGTCATGCA 0.438000 27 69 7.26314e-15 1.25071e-14 0.007291 1 0 KCNU1 157855 broad.mit.edu 37 8 36766906 36766906 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:36766906G>A ENST00000399881.3 + 21 2221 c.2184G>A c.(2182-2184)ccG>ccA p.P728P NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 728 Segment S9. voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity p.P728P(5) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) ACTCAGCCCCGATGGGGCTTC 0.468000 39 276 0 0 0.003214 0 0 TNC 3371 broad.mit.edu 37 9 117838396 117838396 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:117838396C>T ENST00000350763.4 - 9 3276 c.2865G>A c.(2863-2865)ctG>ctA p.L955L TNC_ENST00000345230.3_Silent_p.L955L|TNC_ENST00000341037.4_Silent_p.L955L|TNC_ENST00000346706.3_Silent_p.L955L|TNC_ENST00000535648.1_Silent_p.L955L|TNC_ENST00000340094.3_Silent_p.L955L|TNC_ENST00000537320.1_Silent_p.L955L|TNC_ENST00000542877.1_Silent_p.L955L|TNC_ENST00000423613.2_Silent_p.L955L NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 955 Fibronectin type-III 4. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding p.L955L(1) NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 TTCCCGGCCTCAGACCTAAGG 0.493000 21 96 0 0 0.001882 0 0 ACVR1B 91 broad.mit.edu 37 12 52369262 52369262 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:52369262A>G ENST00000257963.4 + 2 382 c.305A>G c.(304-306)aAc>aGc p.N102S ACVR1B_ENST00000542485.1_Missense_Mutation_p.N50S|ACVR1B_ENST00000541224.1_Missense_Mutation_p.N102S|ACVR1B_ENST00000426655.2_Missense_Mutation_p.N102S|ACVR1B_ENST00000415850.2_Missense_Mutation_p.N102S NM_004302.4|NM_020328.3 NP_004293.1|NP_064733.3 P36896 ACV1B_HUMAN activin A receptor, type IB 102 G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding p.N102S(2) breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) GACTACTGCAACAGGATCGAC 0.562000 15 22 0 0 0.004007 0 0 ZKSCAN4 387032 broad.mit.edu 37 6 28217492 28217492 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:28217492G>C ENST00000377294.2 - 2 787 c.544C>G c.(544-546)Ctg>Gtg p.L182V ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.L27V NM_019110.3 NP_061983.2 Q969J2 ZKSC4_HUMAN zinc finger with KRAB and SCAN domains 4 182 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L182V(1) endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 TGGGATCCCAGAGATTCATGC 0.433000 14 135 0 0 0.001855 0 0 NFIC 4782 broad.mit.edu 37 19 3381731 3381731 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:3381731G>C ENST00000589123.1 + 2 145 c.25G>C c.(25-27)Gag>Cag p.E9Q NFIC_ENST00000586919.1_Missense_Mutation_p.E9Q|NFIC_ENST00000395111.3_Missense_Mutation_p.E9Q|NFIC_ENST00000346156.5_Missense_Mutation_p.E9Q|NFIC_ENST00000590282.1_Missense_Mutation_p.E18Q|NFIC_ENST00000341919.3_Missense_Mutation_p.E18Q|NFIC_ENST00000443272.2_Missense_Mutation_p.E18Q NM_001245005.1|NM_205843.2 NP_001231934.1|NP_995315.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 18 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.E9Q(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) CCCGTTCATCGAGGCCCTGCT 0.657000 12 24 0 0 0.001368 0 0 POM121L12 285877 broad.mit.edu 37 7 53104242 53104242 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:53104242C>A ENST00000408890.4 + 1 894 c.878C>A c.(877-879)cCc>cAc p.P293H NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 293 p.P293H(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 TCTGCTGGCCCCTTTGGCTCC 0.607000 18 56 5.03518e-11 7.95281e-11 0.007413 1 0 PCDH18 54510 broad.mit.edu 37 4 138451090 138451090 + Missense_Mutation SNP A A G rs143055456 byFrequency TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:138451090A>G ENST00000344876.4 - 1 2539 c.2153T>C c.(2152-2154)gTg>gCg p.V718A PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.V498A|PCDH18_ENST00000412923.2_Missense_Mutation_p.V718A|PCDH18_ENST00000510305.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 718 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.V718A(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TGCAAATAGCACCATAATAAC 0.443000 11 83 0 0 0.008291 0 0 FNDC3A 22862 broad.mit.edu 37 13 49777385 49777385 + Nonsense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:49777385C>T ENST00000492622.2 + 25 3552 c.3247C>T c.(3247-3249)Caa>Taa p.Q1083* FNDC3A_ENST00000398316.3_Nonsense_Mutation_p.Q1027*|FNDC3A_ENST00000541916.1_Nonsense_Mutation_p.Q1083* NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 1083 Fibronectin type-III 9. Golgi membrane|integral to membrane p.Q1083*(1) endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) TTACAGTCTTCAAGTTATGTT 0.323000 7 81 0 0 0.004482 0 0 OR9Q2 219957 broad.mit.edu 37 11 57958771 57958771 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:57958771G>T ENST00000311591.3 + 1 866 c.809G>T c.(808-810)gGa>gTa p.G270V NM_001005283.2 NP_001005283.1 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, member 2 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G270V(1) breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Breast(21;0.0589) TCCTCCGAGGGAGACCGAGTG 0.547000 27 94 2.50493e-22 4.66687e-22 0.004656 1 0 LINC00173 100287569 broad.mit.edu 37 12 116972455 116972455 + RNA SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:116972455G>A ENST00000480237.1 + 0 726 NR_027345.1 p.T8T(1) CGTACAGCACGATGATTACAG 0.453000 7 69 0 0 0.003080 0 0 FGF18 8817 broad.mit.edu 37 5 170883614 170883614 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:170883614G>A ENST00000274625.5 + 5 973 c.429G>A c.(427-429)tcG>tcA p.S143S NM_003862.2 NP_003853.1 O76093 FGF18_HUMAN fibroblast growth factor 18 143 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation extracellular space|nucleolus growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding p.S143S(1) endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 9 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CCCTGATGTCGGCTAAGTACT 0.602000 14 97 0 0 0.003163 0 0 SYNE3 161176 broad.mit.edu 37 14 95910916 95910916 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:95910916T>A ENST00000334258.5 - 9 1696 c.1682A>T c.(1681-1683)cAg>cTg p.Q561L SYNE3_ENST00000553340.1_Missense_Mutation_p.Q561L|SYNE3_ENST00000554873.1_Missense_Mutation_p.Q318L|SYNE3_ENST00000557275.1_Missense_Mutation_p.Q561L NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 p.Q561L(3) breast(1)|endometrium(2)|lung(25) 28 GAGCTTCCTCTGCAGGGGCTC 0.577000 6 34 0 0 0.001168 0 0 NR0B1 190 broad.mit.edu 37 X 30327199 30327199 + Silent SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:30327199C>G ENST00000378970.4 - 1 516 c.282G>C c.(280-282)ccG>ccC p.P94P NR0B1_ENST00000453287.1_Silent_p.P94P NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 94 4 X 67 AA tandem repeats. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding p.P94P(1) central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) CGGGCGCCTTCGGTGCCGCGT 0.687000 3 31 0 0 0.004672 0 0 KCNAB1 7881 broad.mit.edu 37 3 156170725 156170725 + Splice_Site SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:156170725G>T ENST00000302490.8 + 3 1174 c.303_splice c.e3+1 p.E101_splice KCNAB1_ENST00000490337.1_Splice_Site_p.E119_splice|KCNAB1_ENST00000471742.1_Splice_Site_p.E108_splice|KCNAB1_ENST00000389636.5_Splice_Site_p.E119_splice|KCNAB1_ENST00000389634.5_Splice_Site_p.E101_splice NM_172159.3 NP_751891.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 119 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity p.E119D(1)|p.E101D(1)|p.E108D(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TTTCAGATGAGGTAAGTTACC 0.368000 43 168 2.01807e-28 3.91812e-28 0.003610 1 0 LRRC8A 56262 broad.mit.edu 37 9 131670448 131670448 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:131670448C>G ENST00000259324.5 + 3 1528 c.1005C>G c.(1003-1005)atC>atG p.I335M LRRC8A_ENST00000372599.3_Missense_Mutation_p.I335M|LRRC8A_ENST00000372600.4_Missense_Mutation_p.I335M NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 335 pre-B cell differentiation integral to membrane p.I335M(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 ACGGCCTCATCTGCATGTATA 0.572000 6 104 0 0 0.001168 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110448582 110448582 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:110448582C>T ENST00000378402.5 + 30 3625 c.3521C>T c.(3520-3522)aCt>aTt p.T1174I NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1174 IPT/TIG 5. immune response cytosol|extracellular space|integral to membrane receptor activity p.T1176I(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ACTCTACTGACTTTATCTGGA 0.318000 HNSCC(38;0.096) 23 74 0 0 0.003954 0 0 PDXDC1 23042 broad.mit.edu 37 16 15111246 15111246 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:15111246G>T ENST00000396410.4 + 11 1027 c.930G>T c.(928-930)gcG>gcT p.A310A PDXDC1_ENST00000569715.1_Silent_p.A283A|PDXDC1_ENST00000455313.2_Silent_p.A287A|PDXDC1_ENST00000450288.2_Silent_p.A282A|PDXDC1_ENST00000447912.2_Silent_p.A219A|PDXDC1_ENST00000563679.1_Silent_p.A328A|PDXDC1_ENST00000535621.2_Silent_p.A310A|PDXDC1_ENST00000325823.7_Silent_p.A295A NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 310 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding p.A310A(1) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) CTGTTCCTGCGGTGACACTGT 0.498000 12 162 0.000422831 0.000507887 0.004007 1 0 OR5K1 26339 broad.mit.edu 37 3 98188929 98188929 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:98188929G>C ENST00000332650.5 + 1 606 c.509G>C c.(508-510)gGa>gCa p.G170A NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G170A(1) breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GTTTTCTGTGGATCGAATCAC 0.398000 22 265 0 0 0.002299 0 0 SLIT3 6586 broad.mit.edu 37 5 168151447 168151447 + Silent SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:168151447C>G ENST00000519560.1 - 21 2732 c.2313G>C c.(2311-2313)ctG>ctC p.L771L SLIT3_ENST00000332966.8_Silent_p.L771L|SLIT3_ENST00000404867.3_Silent_p.L771L NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 771 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding p.L771L(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGAGGGCGGACAGCTCTCTGG 0.517000 4 55 0 0 0.001984 0 0 P4HTM 54681 broad.mit.edu 37 3 49044234 49044234 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:49044234C>A ENST00000343546.4 + 9 1954 c.1586C>A c.(1585-1587)gCg>gAg p.A529E P4HTM_ENST00000383729.4_Missense_Mutation_p.A468E NM_177938.2 NP_808807.2 Q9NXG6 P4HTM_HUMAN prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 468 endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.A529E(1)|p.A468E(1) NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 Vitamin C(DB00126) GCGCGGCAAGCGCTGTTCCAA 0.662000 5 43 2.7689e-08 4.0038e-08 0.001984 1 0 SYNPO2 171024 broad.mit.edu 37 4 119951646 119951646 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:119951646G>A ENST00000307142.4 + 4 1912 c.1716G>A c.(1714-1716)ggG>ggA p.G572G SYNPO2_ENST00000434046.2_Silent_p.G572G|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Silent_p.G572G NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 572 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GCTTCAGTGGGACATCTGAGA 0.532000 4 88 0 0 0.000602 0 0 ANO4 121601 broad.mit.edu 37 12 101505439 101505439 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:101505439T>A ENST00000392979.3 + 23 2657 c.2296T>A c.(2296-2298)Tat>Aat p.Y766N ANO4_ENST00000392977.3_Missense_Mutation_p.Y801N|ANO4_ENST00000299222.9_Missense_Mutation_p.Y321N|ANO4_ENST00000550015.1_Missense_Mutation_p.Y321N NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 801 chloride channel complex chloride channel activity p.Y766N(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TCGCTTGGTGTATGCTTATAA 0.383000 HNSCC(74;0.22) 9 55 0 0 0.000978 0 0 FAM83G 644815 broad.mit.edu 37 17 18881367 18881367 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:18881367C>A ENST00000388995.6 - 5 1835 c.1612G>T c.(1612-1614)Ggg>Tgg p.G538W SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.G538W|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.G538W|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 538 p.G538W(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 TGGTCTGTCCCATTCTGGGGA 0.647000 29 53 6.38683e-12 1.02634e-11 0.008361 1 0 ACN9 57001 broad.mit.edu 37 7 96747046 96747046 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:96747046G>A ENST00000432641.2 + 1 1145 c.11G>A c.(10-12)cGg>cAg p.R4Q ACN9_ENST00000360382.4_Missense_Mutation_p.R4Q NM_020186.2 NP_064571.1 Q9NRP4 ACN9_HUMAN ACN9 homolog (S. cerevisiae) 4 regulation of gluconeogenesis mitochondrial intermembrane space p.R4Q(1) large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3) 10 all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159) ATGCCGGGGCGGCACGTTTCT 0.647000 30 76 0 0 0.004289 0 0 NT5C1A 84618 broad.mit.edu 37 1 40128985 40128985 + Splice_Site SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:40128985C>A ENST00000235628.1 - 4 554 c.556_splice c.e4+1 p.E185_splice NM_032526.1 NP_115915.1 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 185 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding p.E185D(1) breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2) 15 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TAGACTTACCCTCATCAATGG 0.552000 20 90 5.35356e-11 8.42361e-11 0.002780 1 0 TPM1 7168 broad.mit.edu 37 15 63363340 63363340 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr15:63363340A>T ENST00000357980.4 + 10 1029 c.950A>T c.(949-951)gAt>gTt p.D317V TPM1_ENST00000267996.7_Missense_Mutation_p.D275V|RP11-244F12.2_ENST00000558905.1_RNA|TPM1_ENST00000404484.4_Missense_Mutation_p.D239V|TPM1_ENST00000358278.3_Missense_Mutation_p.D275V|TPM1_ENST00000559556.1_Missense_Mutation_p.D275V|TPM1_ENST00000559397.1_Missense_Mutation_p.D275V P09493 TPM1_HUMAN tropomyosin 1 (alpha) 275 cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber actin binding|structural constituent of cytoskeleton|structural constituent of muscle p.D275V(2) endometrium(1)|large_intestine(1)|lung(2) 4 CAGATGCTGGATCAGACTTTA 0.393000 22 59 0 0 0.002780 0 0 KIAA0907 22889 broad.mit.edu 37 1 155891679 155891679 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:155891679G>C ENST00000368320.3 - 9 1010 c.985C>G c.(985-987)Cag>Gag p.Q329E KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q329E|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368319.3_Missense_Mutation_p.Q329E Q7Z7F0 K0907_HUMAN KIAA0907 329 p.Q329E(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) GTATTAATCTGATTCACAAAT 0.368000 3 39 0 0 0.000248 0 0 FAM81A 145773 broad.mit.edu 37 15 59752207 59752207 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr15:59752207G>T ENST00000288228.5 + 3 283 c.96G>T c.(94-96)caG>caT p.Q32H NM_152450.2 NP_689663.2 Q8TBF8 FA81A_HUMAN family with sequence similarity 81, member A 32 p.Q29H(1) endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 TCGTGGAGCAGCTGGAAGACA 0.542000 10 14 1.11149e-13 1.85995e-13 0.008291 1 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342173 60342173 + RNA SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:60342173G>T ENST00000581291.1 - 0 1980 breast(2)|kidney(1)|lung(2) 5 CGATGGTCGTGGGGCTGGGGG 0.498000 6 13 8.12818e-05 0.000100244 0.001984 1 0 LCE2D 353141 broad.mit.edu 37 1 152636662 152636662 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:152636662G>A ENST00000368784.1 + 2 136 c.81G>A c.(79-81)aaG>aaA p.K27K NM_178430.2 NP_848517.1 Q5TA82 LCE2D_HUMAN late cornified envelope 2D 27 Cys-rich. keratinization p.K27K(1) large_intestine(1)|lung(7)|prostate(2) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GTCCACCTAAGTGTCCCCCCA 0.582000 60 96 0 0 0.003610 0 0 POU6F2 11281 broad.mit.edu 37 7 39500316 39500316 + Splice_Site SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:39500316T>A ENST00000518318.2 + 9 1613 c.e9+2 POU6F2_ENST00000403058.1_Splice_Site|POU6F2_ENST00000559001.1_Splice_Site P78424 PO6F2_HUMAN POU class 6 homeobox 2 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.?(1) NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 CATCTGCAGGTAACGCGCGCC 0.627000 6 9 0 0 0.003080 0 0 TRIM67 440730 broad.mit.edu 37 1 231344888 231344888 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:231344888G>T ENST00000444294.3 + 8 2867 c.2009G>T c.(2008-2010)aGg>aTg p.R670M TRIM67_ENST00000449018.3_Missense_Mutation_p.R610M|TRIM67_ENST00000366652.2_Missense_Mutation_p.R672M|TRIM67_ENST00000366653.5_Missense_Mutation_p.R672M NM_001004342.3 NP_001004342.3 Q6ZTA4 TRI67_HUMAN tripartite motif containing 67 672 B30.2/SPRY. cytoplasm|cytoskeleton zinc ion binding p.R672M(2) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) GGGGTGGCCAGGGCCAGCGTG 0.627000 19 101 3.51602e-12 5.68868e-12 0.008871 1 0 NKAIN2 154215 broad.mit.edu 37 6 125139561 125139561 + Silent SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:125139561T>C ENST00000368417.1 + 6 624 c.564T>C c.(562-564)taT>taC p.Y188Y NKAIN2_ENST00000546092.1_Silent_p.Y121Y|NKAIN2_ENST00000545433.1_Silent_p.Y173Y NM_001040214.1 NP_001035304.1 Q5VXU1 NKAI2_HUMAN Na+/K+ transporting ATPase interacting 2 188 integral to membrane|plasma membrane p.Y188Y(1) cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) TTGACTCTTATGGCTATCAAG 0.373000 5 70 0 0 0.001168 0 0 C1orf173 127254 broad.mit.edu 37 1 75037751 75037751 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:75037751C>A ENST00000326665.5 - 14 3861 c.3643G>T c.(3643-3645)Gcc>Tcc p.A1215S C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1215 Glu-rich. p.A1215S(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GCTGCTAAGGCCCCCTCTCCA 0.597000 28 96 4.87955e-14 8.20675e-14 0.005443 1 0 VWA9 81556 broad.mit.edu 37 15 65888105 65888105 + Silent SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr15:65888105G>C ENST00000395644.4 - 7 1142 c.807C>G c.(805-807)tcC>tcG p.S269S VWA9_ENST00000442903.3_Silent_p.S233S|VWA9_ENST00000431261.2_Silent_p.S190S|VWA9_ENST00000569491.1_Silent_p.S220S|VWA9_ENST00000313182.2_Silent_p.S269S|VWA9_ENST00000567744.1_Silent_p.S305S|VWA9_ENST00000420799.2_Silent_p.S212S von Willebrand factor A domain containing 9 p.S269S(1) CCAGATGTCTGGACAGAACTG 0.353000 12 35 0 0 0.002450 0 0 F9 2158 broad.mit.edu 37 X 138623303 138623303 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:138623303G>A ENST00000218099.2 + 4 353 c.346G>A c.(346-348)Gaa>Aaa p.E116K F9_ENST00000479617.1_3'UTR|F9_ENST00000394090.2_Intron NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 116 EGF-like 1; calcium-binding (Potential). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity p.E116K(1) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) TAATTCCTATGAATGTTGGTG 0.368000 4 49 0 0 0.000248 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76482812 76482812 + Silent SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:76482812A>G ENST00000307431.8 + 7 1273 c.888A>G c.(886-888)gcA>gcG p.A296A CNTNAP4_ENST00000377504.4_Silent_p.A296A|CNTNAP4_ENST00000476707.1_Silent_p.A300A|CNTNAP4_ENST00000478060.1_Silent_p.A272A|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 297 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding p.A272A(2)|p.A296A(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 ATTTCCATGCACGGGGAGAAT 0.418000 5 31 0 0 0.001168 0 0 RBL1 5933 broad.mit.edu 37 20 35661274 35661274 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:35661274C>T ENST00000373664.3 - 16 2242 c.2176G>A c.(2176-2178)Gca>Aca p.A726T RBL1_ENST00000344359.3_Missense_Mutation_p.A726T NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 726 Pocket; binds T and E1A.|Spacer. cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding p.A726T(1) NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) GCATCATTTGCGACACCTGAA 0.328000 33 110 0 0 0.003271 0 0 APOC3 345 broad.mit.edu 37 11 116701533 116701533 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:116701533G>T ENST00000375345.1 + 3 216 c.154G>T c.(154-156)Ggt>Tgt p.G52C APOC3_ENST00000470144.1_3'UTR|APOC3_ENST00000227667.3_Missense_Mutation_p.G34C P02656 APOC3_HUMAN apolipoprotein C-III 34 ES -> SQ (in Ref. 8; AA sequence). Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding p.G34C(1) endometrium(1)|lung(6) 7 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) CTTCATGCAGGGTTACATGAA 0.642000 9 43 1.76689e-08 2.56385e-08 0.006214 1 0 HNRNPH1 3187 broad.mit.edu 37 5 179050070 179050070 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:179050070C>T ENST00000356731.5 - 1 1600 c.65G>A c.(64-66)tGc>tAc p.C22Y HNRNPH1_ENST00000442819.2_Missense_Mutation_p.C22Y|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.C22Y|HNRNPH1_ENST00000524180.1_5'UTR|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.C22Y|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.C22Y P31943 HNRH1_HUMAN heterogeneous nuclear ribonucleoprotein H1 (H) 22 RRM 1. regulation of RNA splicing actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|poly(U) RNA binding|protein binding p.C22Y(3) breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1) 14 ATCGGCCGAGCAAGACCAGGG 0.627000 18 41 0 0 0.006122 0 0 APOBEC3B 9582 broad.mit.edu 37 22 39385550 39385550 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:39385550G>T ENST00000402182.3 + 5 713 c.658G>T c.(658-660)Gtg>Ttg p.V220L APOBEC3B_ENST00000333467.3_Missense_Mutation_p.V220L|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.V220L Q9UH17 ABC3B_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B 220 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding p.V220L(1) cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 13 Melanoma(58;0.04) GTGCTATGAGGTGGAGCGCCT 0.547000 10 68 0.000442599 0.000529715 0.006214 1 0 HNF4A 3172 broad.mit.edu 37 20 43052943 43052943 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:43052943G>C ENST00000443598.2 + 8 1267 c.1178G>C c.(1177-1179)gGa>gCa p.G393A HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000415691.1_Intron|HNF4A_ENST00000316099.3_Intron NM_001030004.2|NM_178850.2 NP_001025175.1|NP_849181.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 380 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding p.G393A(1) endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) gactccccaggagacaggcct 0.607000 5 15 0 0 0.001168 0 0 CSMD3 114788 broad.mit.edu 37 8 113348947 113348947 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:113348947C>T ENST00000297405.5 - 44 7197 c.6953G>A c.(6952-6954)gGg>gAg p.G2318E CSMD3_ENST00000343508.3_Missense_Mutation_p.G2278E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2248E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2214E NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2318 CUB 13. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GATGCCATTCCCAGGGGGTAC 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 176 0 0 0.000602 0 0 PTPN14 5784 broad.mit.edu 37 1 214537914 214537914 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:214537914C>T ENST00000366956.5 - 18 3570 c.3376G>A c.(3376-3378)Gga>Aga p.G1126R PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 1126 Substrate (By similarity).|Substrate binding (By similarity).|Tyrosine-protein phosphatase. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CCGGTCCTTCCCACCCCAGCA 0.567000 4 89 0 0 0.000602 0 0 CLDN10 9071 broad.mit.edu 37 13 96230256 96230256 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:96230256T>A ENST00000376873.3 + 5 899 c.669T>A c.(667-669)aaT>aaA p.N223K CLDN10_ENST00000299339.2_Missense_Mutation_p.N225K NM_001160100.1|NM_182848.3 NP_001153572.1|NP_878268.1 P78369 CLD10_HUMAN claudin 10 225 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity p.N225K(1)|p.N223K(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) TTGATAAAAATGCTTATGTCT 0.403000 6 27 0 0 0.001168 0 0 FRG1B 284802 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 6 52 0 0 0.006214 0 0 SLC15A4 121260 broad.mit.edu 37 12 129294610 129294610 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:129294610C>G ENST00000266771.5 - 3 928 c.889G>C c.(889-891)Gat>Cat p.D297H SLC15A4_ENST00000539703.1_Intron|SLC15A4_ENST00000544112.1_5'UTR NM_145648.3 NP_663623.1 Q8N697 S15A4_HUMAN solute carrier family 15 (oligopeptide transporter), member 4 297 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity p.D297H(1) endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1) 22 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05) TTACATGAATCAAACAGACTT 0.393000 7 77 0 0 0.004482 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508538 37508538 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:37508538C>A ENST00000374660.1 + 40 4186 c.4087C>A c.(4087-4089)Cac>Aac p.H1363N ANKRD30A_ENST00000602533.1_Missense_Mutation_p.H1244N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H1244N Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1300 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.H1244N(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GGAAGCTGAACACATGTATCA 0.368000 8 25 3.09899e-07 4.25502e-07 0.004482 1 0 SPAG1 6674 broad.mit.edu 37 8 101232595 101232595 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr8:101232595G>A ENST00000388798.2 + 13 1815 c.1624G>A c.(1624-1626)Gtg>Atg p.V542M SPAG1_ENST00000251809.3_Missense_Mutation_p.V542M|SPAG1_ENST00000523302.1_Intron NM_003114.4 NP_003105.2 Q07617 SPAG1_HUMAN sperm associated antigen 1 542 single fertilization cytoplasm GTP binding|hydrolase activity p.V542M(1) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) GAAAGCTTATGTGGATTATAA 0.428000 6 101 0 0 0.001168 0 0 CYP4B1 1580 broad.mit.edu 37 1 47279690 47279690 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:47279690G>T ENST00000271153.4 + 6 763 c.727G>T c.(727-729)Ggc>Tgc p.G243C CYP4B1_ENST00000371919.4_Missense_Mutation_p.G229C|CYP4B1_ENST00000371923.4_Missense_Mutation_p.G244C|CYP4B1_ENST00000452782.2_Missense_Mutation_p.G81C P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 243 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding p.G243S(1)|p.G243C(1) NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) CACCCCACATGGCCGCCGCTT 0.592000 31 106 9.04072e-19 1.63838e-18 0.003271 1 0 DNAH9 1770 broad.mit.edu 37 17 11726227 11726227 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:11726227C>A ENST00000262442.3 + 48 9190 c.9122C>A c.(9121-9123)cCc>cAc p.P3041H DNAH9_ENST00000454412.2_Missense_Mutation_p.P3041H NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3041 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.P3041H(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TATACAACTCCCAAGTCCTTT 0.478000 30 55 5.45727e-16 9.55598e-16 0.008361 1 0 SCN10A 6336 broad.mit.edu 37 3 38768446 38768446 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:38768446G>T ENST00000449082.2 - 16 2737 c.2738C>A c.(2737-2739)gCc>gAc p.A913D NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 913 sensory perception voltage-gated sodium channel complex p.A913D(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CCGTGCCAGGGCCACCTGCAG 0.582000 31 99 1.22384e-17 2.19629e-17 0.002836 1 0 SCN11A 11280 broad.mit.edu 37 3 38888221 38888221 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:38888221G>C ENST00000302328.3 - 26 5538 c.5340C>G c.(5338-5340)agC>agG p.S1780R SCN11A_ENST00000456224.3_Missense_Mutation_p.S1742R|SCN11A_ENST00000450244.1_Missense_Mutation_p.S1780R NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1780 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.S1780R(1) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CCACCCCAAAGCTAGACAAGT 0.547000 13 70 0 0 0.001368 0 0 TRIM51HP 440041 broad.mit.edu 37 11 55063006 55063006 + RNA SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:55063006C>A ENST00000526016.1 - 0 631 NR_038174.2 TAAAAGCTCCCTGGAATGTTC 0.428000 12 47 7.03913e-09 1.0433e-08 0.001368 1 0 TXNRD2 10587 broad.mit.edu 37 22 19864759 19864759 + Splice_Site SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:19864759T>A ENST00000400519.1 - 17 1442 c.e17-2 TXNRD2_ENST00000535882.1_Splice_Site|TXNRD2_ENST00000400525.1_Splice_Site|TXNRD2_ENST00000400518.1_Splice_Site|TXNRD2_ENST00000542719.1_Splice_Site|TXNRD2_ENST00000400521.1_Splice_Site Q9NNW7 TRXR2_HUMAN thioredoxin reductase 2 cell redox homeostasis|response to oxygen radical mitochondrion flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity p.?(1) breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2) 30 Colorectal(54;0.0993) GCCCCACACCTGCACATGGGG 0.657000 6 23 0 0 0.001984 0 0 RNF216 54476 broad.mit.edu 37 7 5680851 5680851 + Missense_Mutation SNP T T A rs141635295 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:5680851T>A ENST00000425013.2 - 15 2369 c.2145A>T c.(2143-2145)caA>caT p.Q715H RNF216_ENST00000389902.3_Missense_Mutation_p.Q772H|RNF216_ENST00000469375.1_5'UTR NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 715 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding p.Q772H(1) FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) AGCGGGGATGTTGGCAGAAAT 0.507000 38 67 0 0 0.006230 0 0 CNNM1 26507 broad.mit.edu 37 10 101090517 101090517 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:101090517G>T ENST00000356713.4 + 1 1662 c.1373G>T c.(1372-1374)cGc>cTc p.R458L CNNM1_ENST00000446890.1_Missense_Mutation_p.R387L|CNNM1_ENST00000370534.4_Missense_Mutation_p.R93L|CNNM1_ENST00000370528.3_Missense_Mutation_p.R387L NM_020348.2 NP_065081.2 Q9NRU3 CNNM1_HUMAN cyclin M1 458 CBS 1. ion transport integral to membrane|plasma membrane p.R93L(1)|p.R458L(1) NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1) 25 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) GAGATCCTGCGCAGCGGCTAC 0.597000 9 28 4.68919e-08 6.70461e-08 0.008291 1 0 WDR16 146845 broad.mit.edu 37 17 9546502 9546502 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:9546502C>A ENST00000352665.5 + 14 1919 c.1850C>A c.(1849-1851)cCa>cAa p.P617Q RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000299764.5_Missense_Mutation_p.P627Q|WDR16_ENST00000396219.3_Missense_Mutation_p.P549Q NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 617 cytoplasm|intracellular membrane-bounded organelle protein binding p.P617Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 TGGAAGTACCCATATACCTCC 0.463000 22 79 3.01185e-09 4.51234e-09 0.003954 1 0 NRG3 10718 broad.mit.edu 37 10 84498377 84498377 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:84498377C>A ENST00000372142.2 + 4 609 c.335C>A c.(334-336)cCg>cAg p.P112Q NRG3_ENST00000404547.1_Missense_Mutation_p.P333Q|NRG3_ENST00000372141.2_Missense_Mutation_p.P333Q|NRG3_ENST00000556918.1_Missense_Mutation_p.P163Q|NRG3_ENST00000404576.2_Missense_Mutation_p.P137Q NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 333 Ser/Thr-rich. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity p.P333Q(1)|p.P112Q(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) CAATTTCTGCCGAAAACTGAT 0.398000 16 51 1.99824e-07 2.77347e-07 0.004990 1 0 CDH9 1007 broad.mit.edu 37 5 26881389 26881389 + Silent SNP C C T rs147182231 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:26881389C>T ENST00000231021.4 - 12 2398 c.2226G>A c.(2224-2226)ggG>ggA p.G742G NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 742 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G742G(2) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TGGAATCATTCCCTTCATAGG 0.418000 6 130 0 0 0.001984 0 0 KCNA6 3742 broad.mit.edu 37 12 4919849 4919849 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr12:4919849C>T ENST00000433855.1 + 1 1508 c.642C>T c.(640-642)gtC>gtT p.V214V KCNA6_ENST00000280684.3_Silent_p.V214V NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 214 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 TGAGTCGAGTCTCCCCAGTTT 0.532000 HNSCC(72;0.22) 4 79 0 0 0.000248 0 0 CASQ1 844 broad.mit.edu 37 1 160165750 160165750 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:160165750C>A ENST00000368079.3 + 6 972 c.697C>A c.(697-699)Cct>Act p.P233T CASQ1_ENST00000368078.3_Missense_Mutation_p.P239T NM_001231.4 NP_001222.3 P31415 CASQ1_HUMAN calsequestrin 1 (fast-twitch, skeletal muscle) 239 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding p.P233T(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CATGGAAGAGCCTGTGACCAT 0.567000 34 69 6.00712e-18 1.08037e-17 0.002445 1 0 TUBA3C 7278 broad.mit.edu 37 13 19752452 19752452 + Nonsense_Mutation SNP G G T rs114178008 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:19752452G>T ENST00000400113.3 - 3 413 c.309C>A c.(307-309)taC>taA p.Y103* NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 103 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity p.Y103*(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GGCCTCTGGCGTAATTATTGG 0.527000 15 131 3.27435e-08 4.706e-08 0.002450 1 0 SEMA4D 10507 broad.mit.edu 37 9 91994133 91994133 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:91994133G>C ENST00000450295.1 - 16 2851 c.2075C>G c.(2074-2076)tCc>tGc p.S692C SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000356444.2_Missense_Mutation_p.S692C|SEMA4D_ENST00000422704.2_Missense_Mutation_p.S692C|SEMA4D_ENST00000438547.2_Missense_Mutation_p.S692C Q92854 SEM4D_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D 692 anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding p.S692C(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 GATGGCCCCGGAGGAGGTGGC 0.602000 4 73 0 0 0.000248 0 0 SLC39A12 221074 broad.mit.edu 37 10 18242230 18242230 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:18242230G>T ENST00000377369.2 + 2 298 c.25G>T c.(25-27)Gta>Tta p.V9L SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377374.4_Missense_Mutation_p.V9L|SLC39A12_ENST00000377371.3_Missense_Mutation_p.V9L NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 9 zinc ion transport integral to membrane metal ion transmembrane transporter activity p.V9L(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 AAAGCTCTCAGTATCCTGGGT 0.507000 38 81 8.73648e-17 1.54776e-16 0.004289 1 0 AP1G1 164 broad.mit.edu 37 16 71779116 71779116 + Missense_Mutation SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:71779116C>T ENST00000299980.4 - 19 2371 c.1930G>A c.(1930-1932)Gcg>Acg p.A644T AP1G1_ENST00000393512.3_Missense_Mutation_p.A647T|AP1G1_ENST00000423132.2_Missense_Mutation_p.A647T|AP1G1_ENST00000569748.1_Missense_Mutation_p.A644T|AP1G1_ENST00000564155.1_Missense_Mutation_p.A69T|AP1G1_ENST00000433195.2_Missense_Mutation_p.A667T NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit 644 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity p.A644T(1) breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) CTTGTAGGCGCAGTTGGAATA 0.408000 18 84 0 0 0.006122 0 0 DCBLD1 285761 broad.mit.edu 37 6 117841007 117841007 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:117841007C>T ENST00000338728.5 + 3 474 c.354C>T c.(352-354)ccC>ccT p.P118P DCBLD1_ENST00000368503.4_Silent_p.P118P|DCBLD1_ENST00000296955.8_Silent_p.P118P|GOPC_ENST00000467125.1_Intron Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 118 CUB. cell adhesion integral to membrane p.P118P(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) TGACTGTTCCCAAAGAACTCT 0.438000 8 73 0 0 0.004482 0 0 HTR1A 3350 broad.mit.edu 37 5 63256918 63256918 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:63256918A>T ENST00000323865.3 - 1 862 c.629T>A c.(628-630)cTc>cAc p.L210H RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 210 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity p.L210H(1) cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) AACCAGCATGAGCAGCAGCGG 0.577000 68 126 0 0 0.003610 0 0 PDGFD 80310 broad.mit.edu 37 11 103780531 103780531 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:103780531G>T ENST00000302251.5 - 7 1437 c.986C>A c.(985-987)cCt>cAt p.P329H PDGFD_ENST00000393158.2_Missense_Mutation_p.P335H NM_025208.4|NM_033135.3 NP_079484.1|NP_149126.1 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D 335 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity p.P335H(2) biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) GATGTGGCCAGGCTCAAACTG 0.453000 41 137 1.76056e-25 3.35922e-25 0.002852 1 0 NPLOC4 55666 broad.mit.edu 37 17 79573732 79573732 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:79573732G>C ENST00000374747.5 - 7 768 c.639C>G c.(637-639)atC>atG p.I213M NPLOC4_ENST00000331134.6_Missense_Mutation_p.I213M|NPLOC4_ENST00000574344.1_5'UTR|NPLOC4_ENST00000539314.1_Missense_Mutation_p.I52M Q8TAT6 NPL4_HUMAN nuclear protein localization 4 homolog (S. cerevisiae) 213 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding p.I213M(1) central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TGTTCAGCGTGATGGCGCTCG 0.522000 10 57 0 0 0.008291 0 0 HRNR 388697 broad.mit.edu 37 1 152187624 152187624 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:152187624G>T ENST00000368801.2 - 3 6556 c.6481C>A c.(6481-6483)Cag>Aag p.Q2161K FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2161 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACCCATGCTGACCATAGCGG 0.617000 41 2761 1.08611e-07 1.52147e-07 0.000978 1 0 PLA2G2A 5320 broad.mit.edu 37 1 20304510 20304510 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:20304510C>A ENST00000375111.3 - 5 561 c.290G>T c.(289-291)tGt>tTt p.C97F PLA2G2A_ENST00000400520.3_Missense_Mutation_p.C97F|PLA2G2A_ENST00000496748.1_5'UTR NM_000300.3|NM_001161727.1 NP_000291.1|NP_001155199.1 P14555 PA2GA_HUMAN phospholipase A2, group IIA (platelets, synovial fluid) 97 defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation endoplasmic reticulum|extracellular space|membrane calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding p.C97F(1) central_nervous_system(1)|lung(6)|prostate(1)|stomach(1) 9 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) ACTCTTACCACAGGTGATTCT 0.502000 16 78 0.000422831 0.000507887 0.004007 1 0 SSPO 23145 broad.mit.edu 37 7 149509187 149509187 + RNA SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:149509187C>G ENST00000378016.2 + 0 9733 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGAGCCATGTCTCCTGCAGGG 0.687000 4 56 0 0 0.000602 0 0 OR6B2 389090 broad.mit.edu 37 2 240969557 240969557 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:240969557C>A ENST00000402971.2 - 1 349 c.290G>T c.(289-291)tGc>tTc p.C97F NM_001005853.1 NP_001005853.1 Q6IFH4 OR6B2_HUMAN olfactory receptor, family 6, subfamily B, member 2 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C97F(1) endometrium(1)|large_intestine(4)|lung(9)|prostate(1) 15 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) CTGCGTCATGCACCCGACGAA 0.587000 14 31 1.67942e-08 2.45408e-08 0.006122 1 0 CRB1 23418 broad.mit.edu 37 1 197446847 197446847 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:197446847C>T ENST00000367400.3 + 12 4194 c.4059C>T c.(4057-4059)gtC>gtT p.V1353V CRB1_ENST00000538660.1_Silent_p.V817V|CRB1_ENST00000544212.1_Silent_p.V834V|CRB1_ENST00000367399.2_Silent_p.V1241V|CRB1_ENST00000535699.1_Silent_p.V1329V NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1353 cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.V1353V(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CAGTGACTGTCGCCTTGTTAC 0.483000 6 76 0 0 0.001168 0 0 C8B 732 broad.mit.edu 37 1 57415296 57415296 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:57415296G>A ENST00000543257.1 - 7 1206 c.640C>T c.(640-642)Ctt>Ttt p.L214F C8B_ENST00000535057.1_Missense_Mutation_p.L204F|C8B_ENST00000371237.4_Missense_Mutation_p.L266F NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 266 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex p.L266F(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 CTGATGCCAAGTTCAAATATT 0.353000 4 62 0 0 0.000248 0 0 HNRNPDL 9987 broad.mit.edu 37 4 83347646 83347646 + Nonsense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:83347646C>A ENST00000295470.5 - 6 1337 c.1162G>T c.(1162-1164)Gga>Tga p.G388* HNRNPDL_ENST00000602300.1_Nonsense_Mutation_p.G269*|HNRNPDL_ENST00000349655.4_Intron|HNRNPDL_ENST00000502762.1_Nonsense_Mutation_p.G388*|HNRNPDL_ENST00000514511.1_5'UTR NM_001207000.1|NM_031372.3 NP_001193929.1|NP_112740.1 heterogeneous nuclear ribonucleoprotein D-like p.G388*(1) TGTCCATATCCATAGTTCCCA 0.338000 9 95 1.58986e-06 2.1318e-06 0.008291 1 0 DAXX 1616 broad.mit.edu 37 6 33287597 33287597 + Silent SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:33287597T>C ENST00000374542.5 - 6 1704 c.1500A>G c.(1498-1500)ctA>ctG p.L500L DAXX_ENST00000266000.6_Silent_p.L500L|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Silent_p.L425L NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 500 Asp/Glu-rich (acidic).|Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding p.L500L(1) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 TGGAGATCTGTAGTGAGGACA 0.478000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 27 53 0 0 0.005443 0 0 CYP3A43 64816 broad.mit.edu 37 7 99463537 99463537 + Nonstop_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:99463537G>T ENST00000312017.5 + 12 1262 c.1262G>T c.(1261-1263)tGa>tTa p.*421L CYP3A43_ENST00000354829.2_Silent_p.L475L|CYP3A43_ENST00000417625.1_Silent_p.L365L|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000415413.1_Silent_p.L264L|CYP3A43_ENST00000222382.5_Silent_p.L476L|CYP3A43_ENST00000342499.4_Nonstop_Mutation_p.*281L|CYP3A43_ENST00000444905.1_Nonstop_Mutation_p.*168L NM_057096.2 NP_476437.1 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 43 0 Missing (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding p.L476L(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) AGATCCCACTGAAATTAGACA 0.343000 4 35 0.00024832 0.000300665 0.000248 1 0 HAUS6 54801 broad.mit.edu 37 9 19078172 19078172 + Splice_Site SNP A A C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:19078172A>C ENST00000380502.3 - 10 1659 c.e10+1 HAUS6_ENST00000380496.1_Splice_Site NM_017645.3 NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle p.?(1) autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AACATTACTTACTGGAGTCCA 0.433000 27 57 0 0 0.007291 0 0 OR4D10 390197 broad.mit.edu 37 11 59245584 59245584 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:59245584C>G ENST00000530162.1 + 1 739 c.682C>G c.(682-684)Cag>Gag p.Q228E NM_001004705.1 NP_001004705.1 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, member 10 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q228E(1)|p.Q226E(1) NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ACCCAAGTCTCAGGCAGGAGA 0.507000 13 111 0 0 0.001855 0 0 SNHG14 104472715 broad.mit.edu 37 15 25427691 25427691 + RNA SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr15:25427691C>T ENST00000424208.1 + 0 272 NR_003305.1 TGGCTGGAGACCTGGAGGCCC 0.602000 11 83 0 0 0.008291 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140745190 140745190 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:140745190C>A ENST00000518069.1 + 1 1293 c.1293C>A c.(1291-1293)ccC>ccA p.P431P PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 p.P431P(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAACCCCGCCCCTCTCTACAG 0.448000 31 78 4.16155e-14 7.01337e-14 0.008740 1 0 TMEM200A 114801 broad.mit.edu 37 6 130761821 130761821 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr6:130761821C>A ENST00000392429.1 + 2 2632 c.254C>A c.(253-255)cCc>cAc p.P85H TMEM200A_ENST00000545622.1_Missense_Mutation_p.P85H|TMEM200A_ENST00000296978.3_Missense_Mutation_p.P85H NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 85 integral to membrane p.P85H(2) NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) GGATATTGGCCCCAAAAAGAA 0.423000 5 95 3.59834e-05 4.50131e-05 0.001168 1 0 FAT4 79633 broad.mit.edu 37 4 126336493 126336493 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:126336493G>T ENST00000394329.3 + 5 6388 c.6375G>T c.(6373-6375)gtG>gtT p.V2125V FAT4_ENST00000335110.5_Silent_p.V423V NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2125 Cadherin 20. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.V2125V(2) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TAACAGTGGTGGCTACAGACA 0.418000 19 84 6.49762e-13 1.06476e-12 0.006122 1 0 ZNF746 155061 broad.mit.edu 37 7 149172163 149172163 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:149172163T>A ENST00000340622.3 - 7 1527 c.1247A>T c.(1246-1248)cAg>cTg p.Q416L ZNF746_ENST00000458143.2_Missense_Mutation_p.Q417L Q6NUN9 ZN746_HUMAN zinc finger protein 746 416 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding p.Q416L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CCTTGGGGCCTGGCTGGGGTC 0.662000 4 17 0 0 0.000248 0 0 HTT 3064 broad.mit.edu 37 4 3201610 3201610 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:3201610G>A ENST00000355072.5 + 41 5665 c.5520G>A c.(5518-5520)ctG>ctA p.L1840L NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 1840 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding p.L1840L(1) breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GTCAGATACTGCTGCTTGTCA 0.617000 12 30 0 0 0.001368 0 0 FBN2 2201 broad.mit.edu 37 5 127622515 127622515 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:127622515G>T ENST00000508053.1 - 61 7881 c.6907C>A c.(6907-6909)Cac>Aac p.H2303N FBN2_ENST00000262464.4_Missense_Mutation_p.H2303N P35556 FBN2_HUMAN fibrillin 2 2303 EGF-like 39; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.H2303N(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TCACAGTCGTGTAACCCTTCA 0.438000 12 49 2.61681e-11 4.14495e-11 0.002450 1 0 NRG3 10718 broad.mit.edu 37 10 84118550 84118550 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr10:84118550G>T ENST00000372142.2 + 3 490 c.216G>T c.(214-216)aaG>aaT p.K72N NRG3_ENST00000404547.1_Missense_Mutation_p.K293N|NRG3_ENST00000372141.2_Missense_Mutation_p.K293N|NRG3_ENST00000556918.1_Missense_Mutation_p.K123N|NRG3_ENST00000404576.2_Missense_Mutation_p.K97N NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 293 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity p.K72N(1)|p.K293N(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) GCCGAGACAAGGACCTTGCAT 0.517000 19 71 2.4624e-09 3.69917e-09 0.008871 1 0 HSD17B3 3293 broad.mit.edu 37 9 99006653 99006653 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:99006653C>T ENST00000375263.3 - 9 677 c.630G>A c.(628-630)aaG>aaA p.K210K HSD17B3_ENST00000464104.1_5'UTR|HSD17B3_ENST00000375262.2_Silent_p.K210K NM_000197.1 NP_000188.1 P37058 DHB3_HUMAN hydroxysteroid (17-beta) dehydrogenase 3 210 androgen biosynthetic process|male genitalia development endoplasmic reticulum membrane|microsome binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity p.K210K(1) breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214) NADH(DB00157) CTTGCAGGGCCTTGGAAAATG 0.552000 12 110 0 0 0.001368 0 0 PODN 127435 broad.mit.edu 37 1 53541610 53541610 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:53541610A>G ENST00000371500.3 + 7 976 c.635A>G c.(634-636)tAt>tGt p.Y212C PODN_ENST00000312553.5_Missense_Mutation_p.Y231C|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Intron NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 183 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding p.Y231C(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 ACCAAGATCTATGGGCTCACC 0.617000 5 15 0 0 0.001984 0 0 FLNB 2317 broad.mit.edu 37 3 58124020 58124020 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:58124020G>A ENST00000357272.4 + 29 5038 c.4873G>A c.(4873-4875)Gcc>Acc p.A1625T FLNB_ENST00000348383.5_Missense_Mutation_p.A1625T|FLNB_ENST00000295956.4_Missense_Mutation_p.A1625T|FLNB_ENST00000493452.1_Missense_Mutation_p.A1456T|FLNB_ENST00000490882.1_Missense_Mutation_p.A1656T|FLNB_ENST00000429972.2_Missense_Mutation_p.A1625T|FLNB_ENST00000419752.2_Missense_Mutation_p.A1456T|FLNB_ENST00000358537.3_Missense_Mutation_p.A1625T O75369 FLNB_HUMAN filamin B, beta 1625 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding p.A1625T(1)|p.A1656T(1) NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) TCCTGGAATCGCCTCCACTGT 0.522000 20 93 0 0 0.001882 0 0 UGT2A1 10941 broad.mit.edu 37 4 70465104 70465104 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr4:70465104T>C ENST00000503640.1 - 2 779 c.724A>G c.(724-726)Act>Gct p.T242A UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000286604.4_Missense_Mutation_p.T286A|UGT2A1_ENST00000512704.1_Missense_Mutation_p.T242A|UGT2A2_ENST00000457664.2_Missense_Mutation_p.T251A|UGT2A1_ENST00000514019.1_Missense_Mutation_p.T452A NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 242 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity p.T251A(1)|p.T242A(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 CATAACGTAGTGGGTCTTCCT 0.368000 13 60 0 0 0.001368 0 0 CCDC80 151887 broad.mit.edu 37 3 112358703 112358703 + Missense_Mutation SNP A A G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:112358703A>G ENST00000206423.3 - 2 1003 c.50T>C c.(49-51)cTa>cCa p.L17P CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Missense_Mutation_p.L17P NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 17 p.L17P(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 TCCACACACTAGCCACATGGC 0.552000 8 57 0 0 0.006214 0 0 LRRC59 55379 broad.mit.edu 37 17 48470177 48470177 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:48470177G>A ENST00000225972.7 - 3 482 c.247C>T c.(247-249)Cgt>Tgt p.R83C NM_018509.3 NP_060979.2 Q96AG4 LRC59_HUMAN leucine rich repeat containing 59 83 endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid protein binding p.R83C(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 13 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) TTGACCAGACGGCCAAAGTCT 0.512000 6 137 0 0 0.001984 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137206 40137206 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:40137206G>T ENST00000278198.2 - 2 2600 c.637C>A c.(637-639)Cct>Act p.P213T LRRC4C_ENST00000528697.1_Missense_Mutation_p.P213T|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P213T|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P213T Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 213 regulation of axonogenesis integral to membrane protein binding p.P213T(1) NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GTGAGGTTAGGGATTTCCCGA 0.458000 23 47 1.55469e-16 2.74261e-16 0.003330 1 0 DYNAP 284254 broad.mit.edu 37 18 52258503 52258503 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr18:52258503G>T ENST00000321600.1 + 1 114 c.68G>T c.(67-69)gGc>gTc p.G23V DYNAP_ENST00000585973.1_Missense_Mutation_p.G26V NM_173629.1 NP_775900.1 dynactin associated protein p.G23V(1) TGTGATACTGGCAGCTCAAGA 0.393000 25 60 1.36565e-18 2.47216e-18 0.002780 1 0 TRIM42 287015 broad.mit.edu 37 3 140397213 140397213 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:140397213C>A ENST00000286349.3 + 1 333 c.142C>A c.(142-144)Cgg>Agg p.R48R NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 48 Cys-rich. intracellular zinc ion binding p.R48R(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CAAAGATGAGCGGAACTGCCA 0.542000 17 169 2.23348e-06 2.96607e-06 0.004007 1 0 OR6Y1 391112 broad.mit.edu 37 1 158516969 158516969 + Frame_Shift_Del DEL G G - TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:158516969delG ENST00000302617.3 - 1 926 c.927delC c.(925-927)acfs p.T309fs NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) TGCAATGTATGGTCTTTCTGA 0.443 40 76 --- --- --- --- EDEM3 80267 broad.mit.edu 37 1 184692959 184692960 + Frame_Shift_Ins INS - - A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:184692959_184692960insA ENST00000318130.8 - 8 1044_1045 c.778_779insT c.(778-780)ggafs p.G260fs EDEM3_ENST00000367512.3_Frame_Shift_Ins_p.G217fs NM_025191.3 NP_079467.3 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 3 260 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TCTTTTTTCCCAGAGAAAATCA 0.317 35 119 --- --- --- --- COA6 388753 broad.mit.edu 37 1 234510050 234510050 + Frame_Shift_Del DEL G G - TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:234510050delG ENST00000366612.1 + 1 604 c.59delG c.(58-60)tgfs p.W20fs COA6_ENST00000366615.4_Frame_Shift_Del_p.W96fs|COA6_ENST00000366613.1_Frame_Shift_Del_p.W66fs cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae) GATGAGTACTGGAAGTGTTTA 0.458 47 122 --- --- --- --- RYR2 6262 broad.mit.edu 37 1 237758850 237758850 + Frame_Shift_Del DEL G G - TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr1:237758850delG ENST00000366574.2 + 34 4806 c.4489delG c.(4489-4491)ggfs p.G1497fs RYR2_ENST00000360064.6_Frame_Shift_Del_p.G1495fs|RYR2_ENST00000542537.1_Frame_Shift_Del_p.G1481fs NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1497 4 X approximate repeats.|B30.2/SPRY 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CATGAGCCCCGGGCAAGGACG 0.473 22 67 --- --- --- --- REG3A 5068 broad.mit.edu 37 2 79386508 79386508 + Frame_Shift_Del DEL G G - TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:79386508delG ENST00000393878.1 - 1 278 c.24delC c.(22-24)ccfs p.P8fs REG3A_ENST00000409839.3_Frame_Shift_Del_p.P8fs|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Frame_Shift_Del_p.P8fs NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 8 acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 AAGATACACTGGGCAGGGCCA 0.532 11 77 --- --- --- --- FIGN 55137 broad.mit.edu 37 2 164467481 164467481 + Frame_Shift_Del DEL G G - TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:164467481delG ENST00000333129.3 - 3 1175 c.861delC c.(859-861)ccfs p.P287fs FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 287 Pro-rich. nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 GAACAGTGGTGGGGGGTAGGG 0.592 7 94 --- --- --- --- FARP2 9855 broad.mit.edu 37 2 242407622 242407622 + Frame_Shift_Del DEL G G - TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr2:242407622delG ENST00000264042.3 + 18 2131 c.1961delG c.(1960-1962)ttfs p.C654fs NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 654 DH. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) ACCAAACGCTGTAAGAAGTTG 0.527 78 128 --- --- --- --- TP63 8626 broad.mit.edu 37 3 189587113 189587113 + Splice_Site DEL C C - rs148052765 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr3:189587113delC ENST00000264731.3 + 9 1219 c.1129_splice c.e9-1 p.P377_splice TP63_ENST00000354600.5_Splice_Site_p.P283_splice|TP63_ENST00000392463.2_Splice_Site_p.P283_splice|TP63_ENST00000418709.2_Splice_Site_p.P377_splice|TP63_ENST00000392461.3_Splice_Site_p.P283_splice|TP63_ENST00000320472.5_Splice_Site_p.P377_splice|TP63_ENST00000456148.1_Splice_Site_p.A279_splice|TP63_ENST00000392460.3_Splice_Site_p.P377_splice|TP63_ENST00000437221.1_Splice_Site_p.P283_splice|TP63_ENST00000440651.2_Splice_Site_p.A373_splice|TP63_ENST00000382063.4_Splice_Site_p.P292_splice|TP63_ENST00000449992.1_Splice_Site_p.P198_splice NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 377 Interaction with HIPK2. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CCTCCACCAGCGTTTCGTCAG 0.363 HNSCC(45;0.13) 13 70 --- --- --- --- MROH2B 133558 broad.mit.edu 37 5 41018522 41018523 + Frame_Shift_Ins INS - - T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr5:41018522_41018523insT ENST00000399564.4 - 27 3133_3134 c.2683_2684insA c.(2683-2685)gtgfs p.V895fs MROH2B_ENST00000506092.2_Frame_Shift_Ins_p.V450fs NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B AACAAGCCACATTTGGAGAAGC 0.366 10 40 --- --- --- --- PCLO 27445 broad.mit.edu 37 7 82580348 82580348 + Frame_Shift_Del DEL T T - TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:82580348delT ENST00000423517.2 - 6 9893 c.9556delA c.(9556-9558)cafs p.T3186fs PCLO_ENST00000333891.8_Frame_Shift_Del_p.T3186fs NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3117 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCGGATGCTGTGGTTAAAGTG 0.438 16 70 --- --- --- --- HEPACAM2 253012 broad.mit.edu 37 7 92837962 92837962 + Frame_Shift_Del DEL A A - TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:92837962delA ENST00000394468.2 - 4 1020 c.943delT c.(943-945)gcfs p.C316fs HEPACAM2_ENST00000341723.4_Frame_Shift_Del_p.C304fs|HEPACAM2_ENST00000440868.1_Frame_Shift_Del_p.C304fs|HEPACAM2_ENST00000453812.2_Frame_Shift_Del_p.C339fs NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 316 Ig-like C2-type 2. integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 TAAGCACAGCACACATAGTCC 0.428 23 131 --- --- --- --- PRSS3P2 154754 broad.mit.edu 37 7 142481471 142481472 + RNA INS - - GCTTAA TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr7:142481471_142481472insGCTTAA ENST00000603901.1 + 0 454 NR_001296.3 CTCACCTCCAGGACACATTTCT 0.480 2 4 --- --- --- --- ZNF462 58499 broad.mit.edu 37 9 109686588 109686589 + In_Frame_Ins INS - - AGCTCA TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr9:109686588_109686589insAGCTCA ENST00000277225.5 + 3 684_685 c.395_396insAGCTCA c.(394-396)ggc>gAGCTCAgc p.132_132G>ELS ZNF462_ENST00000457913.1_In_Frame_Ins_p.132_132G>ELS Q96JM2 ZN462_HUMAN zinc finger protein 462 132 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 AAGGTCCATGGAGCTCAAGCTG 0.441 8 70 --- --- --- --- CHST1 8534 broad.mit.edu 37 11 45671427 45671427 + Frame_Shift_Del DEL G G - rs148878468 byFrequency TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:45671427delG ENST00000308064.2 - 4 1717 c.1047delC c.(1045-1047)acfs p.T349fs NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 349 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) AGTTTCGCACGGTGCCGTATT 0.672 24 94 --- --- --- --- RP11-807H22.7 0 broad.mit.edu 37 11 71883574 71883574 + RNA DEL C C - TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:71883574delC ENST00000378140.3 - 0 419 RP11-807H22.6_ENST00000539482.1_RNA CAGGAGTGCGCGGGCCAGGAC 0.602 26 88 --- --- --- --- REXO2 25996 broad.mit.edu 37 11 114315245 114315245 + Frame_Shift_Del DEL G G - TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr11:114315245delG ENST00000538791.1 + 1 369 c.22delG c.(22-24)ggfs p.G8fs REXO2_ENST00000539754.1_Intron|REXO2_ENST00000539275.1_Intron|REXO2_ENST00000265881.5_Intron Q9Y3B8 ORN_HUMAN RNA exonuclease 2 0 nucleotide metabolic process mitochondrion|nucleus 3'-5' exonuclease activity|nucleic acid binding cervix(1)|endometrium(1)|kidney(1)|lung(1) 4 all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104) BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494) GTGGGGGGCTGGGGATTCTCT 0.413 16 56 --- --- --- --- PCDH17 27253 broad.mit.edu 37 13 58208014 58208014 + Frame_Shift_Del DEL G G - TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:58208014delG ENST00000377918.3 + 1 1360 c.1334delG c.(1333-1335)cgfs p.R445fs NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 445 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding p.R445Q(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) ATCGTGGCGCGGGACGGGGGC 0.582 8 29 --- --- --- --- DACH1 1602 broad.mit.edu 37 13 72255995 72255995 + Frame_Shift_Del DEL G G - TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr13:72255995delG ENST00000305425.4 - 2 1324 c.902delC c.(901-903)cafs p.P301fs DACH1_ENST00000359684.2_Frame_Shift_Del_p.P301fs|DACH1_ENST00000313174.7_Frame_Shift_Del_p.P301fs|DACH1_ENST00000354591.4_Frame_Shift_Del_p.P301fs NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 299 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) AGAGTTCTCTGGGGAGGTGAC 0.418 13 78 --- --- --- --- DNAL1 83544 broad.mit.edu 37 14 74125629 74125629 + Frame_Shift_Del DEL A A - TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:74125629delA ENST00000553645.1 + 3 163 c.122delA c.(121-123)gtfs p.D41fs DNAL1_ENST00000540526.1_Frame_Shift_Del_p.D2fs|DNAL1_ENST00000311089.3_Intron|DNAL1_ENST00000554871.1_Frame_Shift_Del_p.D2fs|DNAL1_ENST00000554339.1_Intron NM_031427.3 NP_113615.2 Q4LDG9 DNAL1_HUMAN dynein, axonemal, light chain 1 41 kidney(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095) GAGAAGATGGATGCATCCTTG 0.403 154 340 --- --- --- --- TMEM121 80757 broad.mit.edu 37 14 105996050 105996052 + In_Frame_Del DEL GCC GCC - rs5811180 TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr14:105996050_105996052delGCC ENST00000392519.2 + 2 1043_1045 c.879_881delGCC c.(877-882)gtg>gt p.VP293del TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del NM_025268.2 NP_079544.1 Q9BTD3 TM121_HUMAN transmembrane protein 121 293 Pro-rich. integral to membrane endometrium(2)|lung(1) 3 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188) Epithelial(152;0.0959)|all cancers(159;0.235) GCAACTCGGTgccgccgccgccg 0.768 2 4 --- --- --- --- GTF3C1 2975 broad.mit.edu 37 16 27517400 27517401 + Frame_Shift_Ins INS - - T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:27517400_27517401insT ENST00000356183.4 - 10 1604_1605 c.1589_1590insA c.(1588-1590)acafs p.T530fs GTF3C1_ENST00000561623.1_Frame_Shift_Ins_p.T530fs NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 530 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 AGGGCGGCTGCTTTTTCAATGG 0.554 14 74 --- --- --- --- ITGAX 3687 broad.mit.edu 37 16 31388578 31388578 + Frame_Shift_Del DEL G G - TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:31388578delG ENST00000268296.4 + 23 2902 c.2781delG c.(2779-2781)gtfs p.V928fs ITGAX_ENST00000562522.1_Frame_Shift_Del_p.V928fs NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 928 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 TCTACACTGTGGTTAGCAGGT 0.502 20 74 --- --- --- --- RFWD3 55159 broad.mit.edu 37 16 74678502 74678502 + Frame_Shift_Del DEL C C - TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr16:74678502delC ENST00000361070.4 - 5 1021 c.924delG c.(922-924)ggfs p.G308fs RFWD3_ENST00000571750.1_Frame_Shift_Del_p.G308fs NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 308 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 CAAAGAGATGCCCACAGCGTA 0.478 7 108 --- --- --- --- OR3A1 4994 broad.mit.edu 37 17 3195709 3195709 + Frame_Shift_Del DEL G G - TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:3195709delG ENST00000323404.1 - 1 167 c.168delC c.(166-168)ccfs p.P56fs RP11-64J4.2_ENST00000573491.1_RNA NM_002550.2 NP_002541.2 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, member 1 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 20 TGTGGAGTTTGGGCTCCACCA 0.562 14 46 --- --- --- --- FAM222B 55731 broad.mit.edu 37 17 27085451 27085451 + Frame_Shift_Del DEL C C - TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:27085451delC ENST00000341217.5 - 3 1741 c.1526delG c.(1525-1527)acfs p.S509fs FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000581407.1_Frame_Shift_Del_p.S509fs|FAM222B_ENST00000452648.3_Frame_Shift_Del_p.S509fs NM_018182.2 NP_060652.2 Q8WU58 CQ063_HUMAN family with sequence similarity 222, member B 509 TTGCATCAAGCTGTTCTGGCT 0.652 8 68 --- --- --- --- ARSG 22901 broad.mit.edu 37 17 66352843 66352851 + In_Frame_Del DEL TCCCTCTTT TCCCTCTTT - rs115207014 byFrequency TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr17:66352843_66352851delTCCCTCTTT ENST00000448504.2 + 6 1398_1406 c.602_610delTCCCTCTTT c.(601-612)cat>c p.LPLY201del ARSG_ENST00000452479.2_In_Frame_Del_p.LPLY37del|ARSG_ENST00000582154.1_3'UTR NM_014960.4 NP_055775.2 Q96EG1 ARSG_HUMAN arylsulfatase G 201 sulfur compound metabolic process endoplasmic reticulum|extracellular space|lysosome arylsulfatase activity|metal ion binding NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 26 BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) GACGTGGCCCTCCCTCTTTATGAAAACCT 0.493 17 38 --- --- --- --- PSG4 5672 broad.mit.edu 37 19 43699272 43699272 + Frame_Shift_Del DEL C C - TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr19:43699272delC ENST00000405312.3 - 4 1100 c.863delG c.(862-864)cafs p.R288fs PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Frame_Shift_Del_p.R195fs NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 288 Ig-like C2-type 2. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) TTCAATGGGTCGCTTTACCCT 0.463 215 322 --- --- --- --- CST8 10047 broad.mit.edu 37 20 23472391 23472391 + Frame_Shift_Del DEL A A - rs2983288 byFrequency TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr20:23472391delA ENST00000246012.1 + 2 444 c.87delA c.(85-87)acfs p.T29fs NM_005492.2 NP_005483.1 O60676 CST8_HUMAN cystatin 8 (cystatin-related epididymal specific) 29 extracellular region cysteine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2) 16 Colorectal(13;0.0431)|Lung NSC(19;0.235) AGAATGAGACAGGGGTGCTGA 0.537 7 164 --- --- --- --- APOL2 23780 broad.mit.edu 37 22 36623735 36623736 + In_Frame_Ins INS - - GGG TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:36623735_36623736insGGG ENST00000249066.6 - 6 1204_1205 c.728_729insCCC c.(727-729)cca>cCCCca p.243_243P>PP APOL2_ENST00000358502.5_In_Frame_Ins_p.243_243P>PP|APOL2_ENST00000451256.2_In_Frame_Ins_p.355_355P>PP NM_145637.1 NP_663612.1 Q9BQE5 APOL2_HUMAN apolipoprotein L, 2 243 acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development endoplasmic reticulum membrane|extracellular region high-density lipoprotein particle binding|lipid binding|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2) 9 CAATGATATGCGGGGGTGGGGC 0.564 20 128 --- --- --- --- DDX17 10521 broad.mit.edu 37 22 38882078 38882078 + Frame_Shift_Del DEL C C - TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chr22:38882078delC ENST00000396821.3 - 13 2157 c.2058delG c.(2056-2058)cgfs p.R686fs DDX17_ENST00000444597.1_Frame_Shift_Del_p.R136fs|DDX17_ENST00000381633.3_Frame_Shift_Del_p.R607fs NM_001098504.1|NM_006386.4 NP_001091974.1|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 605 RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) GCTGCCCAGACCGGCCTATCC 0.532 8 130 --- --- --- --- DDX3X 1654 broad.mit.edu 37 X 41201812 41201812 + Frame_Shift_Del DEL G G - TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:41201812delG ENST00000399959.2 + 5 1204 c.349delG c.(349-351)gcfs p.G117fs DDX3X_ENST00000542215.1_Frame_Shift_Del_p.G161fs|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Frame_Shift_Del_p.G101fs NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 117 interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 AAGTGGCTTTGGCAAATTTGA 0.453 HNSCC(61;0.18) 10 22 --- --- --- --- CDX4 1046 broad.mit.edu 37 X 72674320 72674320 + Frame_Shift_Del DEL T T - TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f85d0d42-436b-4251-a7fd-7d0f5fddd397 e76567fb-2172-446f-87d3-afc4d7ef2b76 g.chrX:72674320delT ENST00000373514.2 + 3 754 c.754delT c.(754-756)ccfs p.S252fs NM_005193.1 NP_005184.1 O14627 CDX4_HUMAN caudal type homeobox 4 252 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) TGACTCTGACTCCATCAGCCC 0.448 15 11 --- --- --- ---