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 ZNF578 147660 broad.mit.edu 37 19 53014631 53014631 + Missense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr19:53014631C>A ENST00000421239.2 + 6 1241 c.997C>A c.(997-999)Cat>Aat p.H333N CTD-3099C6.5_ENST00000599143.1_RNA NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 108 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) CCTTACATGCCATCATAGGTG 0.428000 18 113 6.94344e-10 9.01528e-10 0.038395 1 0 SRGAP2-AS1 100873165 broad.mit.edu 37 1 121116787 121116787 + RNA SNP A A G TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:121116787A>G ENST00000437515.1 - 0 329 TTCAAGTACTACATCCATGAC 0.473000 7 53 0 0 0.038147 0 0 DMGDH 29958 broad.mit.edu 37 5 78359439 78359439 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr5:78359439G>T ENST00000255189.3 - 2 301 c.273C>A c.(271-273)caC>caA p.H91Q DMGDH_ENST00000380311.4_Missense_Mutation_p.R47S|DMGDH_ENST00000540686.1_Missense_Mutation_p.T17K|DMGDH_ENST00000520388.1_Intron NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 91 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) TTCTTACTGCGTGCCAGGTAG 0.498000 19 105 1.37657e-19 2.10073e-19 0.012319 1 0 RYR2 6262 broad.mit.edu 37 1 237551398 237551398 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:237551398G>T ENST00000366574.2 + 10 1005 c.688G>T c.(688-690)Ggt>Tgt p.G230C RYR2_ENST00000360064.6_Missense_Mutation_p.G228C|RYR2_ENST00000542537.1_Missense_Mutation_p.G214C NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 230 MIR 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) GTATCTCATTGGTGGTGATGT 0.488000 20 25 3.62473e-10 4.76393e-10 0.012319 1 0 NCKAP5L 57701 broad.mit.edu 37 12 50186578 50186578 + Missense_Mutation SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr12:50186578G>A ENST00000335999.6 - 11 3733 c.3532C>T c.(3532-3534)Cgg>Tgg p.R1178W NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 1174 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 GGCACCTCCCGCTCCAGTGTG 0.706000 5 18 0 0 0.008291 0 0 MIR184 406960 broad.mit.edu 37 15 79502162 79502162 + RNA SNP A A T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr15:79502162A>T ENST00000384962.1 + 0 33 NR_029705.1 TTTCCAGCCCAGCTTTGTGAC 0.537000 14 61 0 0 0.038395 0 0 TRPC4 7223 broad.mit.edu 37 13 38357421 38357421 + Missense_Mutation SNP C C T rs75129764 byFrequency TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr13:38357421C>T ENST00000379705.3 - 2 907 c.50G>A c.(49-51)cGc>cAc p.R17H TRPC4_ENST00000379681.3_Missense_Mutation_p.R17H|TRPC4_ENST00000447043.1_Missense_Mutation_p.R17H|TRPC4_ENST00000358477.2_Missense_Mutation_p.R17H|TRPC4_ENST00000379679.1_Missense_Mutation_p.R17H|TRPC4_ENST00000426868.2_Missense_Mutation_p.R17H|TRPC4_ENST00000379673.2_Missense_Mutation_p.R17H|TRPC4_ENST00000355779.2_Missense_Mutation_p.R17H|TRPC4_ENST00000338947.5_Missense_Mutation_p.R17H Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 17 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TAGAGGGATGCGGTCTCTATA 0.398000 6 366 0 0 0.029380 0 0 SEMA5B 54437 broad.mit.edu 37 3 122680072 122680072 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr3:122680072G>T ENST00000195173.4 - 2 342 c.39C>A c.(37-39)caC>caA p.H13Q SEMA5B_ENST00000357599.3_Missense_Mutation_p.H13Q|SEMA5B_ENST00000465147.1_Intron|SEMA5B_ENST00000451055.2_Missense_Mutation_p.H67Q Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 13 cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) CAGGGACGAGGTGGTGGGCAA 0.602000 13 121 2.31682e-05 2.6739e-05 0.024245 1 0 SYT12 91683 broad.mit.edu 37 11 66807603 66807603 + Nonsense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr11:66807603G>T ENST00000393946.2 + 7 1712 c.550G>T c.(550-552)Gag>Tag p.E184* SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000527043.1_Nonsense_Mutation_p.E184*|SYT12_ENST00000525457.1_Nonsense_Mutation_p.E184* Q8IV01 SYT12_HUMAN synaptotagmin XII 184 C2 1. cell junction|integral to membrane|synaptic vesicle membrane NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 20 GGAGCGGGAGGAGGCCAGCTT 0.647000 3 11 6.4e-05 7.28358e-05 0.004672 1 0 OGDHL 55753 broad.mit.edu 37 10 50953850 50953850 + Silent SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr10:50953850C>A ENST00000374103.4 - 11 1555 c.1470G>T c.(1468-1470)gtG>gtT p.V490V OGDHL_ENST00000432695.1_Silent_p.V281V|OGDHL_ENST00000419399.1_Silent_p.V433V NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 490 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 CCACCAGGTCCACGACAACAT 0.557000 8 26 0.00448238 0.00482718 0.004482 1 0 ATR 545 broad.mit.edu 37 3 142204090 142204090 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr3:142204090C>T ENST00000350721.4 - 36 6234 c.6113G>A c.(6112-6114)gGg>gAg p.G2038E ATR_ENST00000383101.3_Missense_Mutation_p.G1974E NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2038 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GTAAAAATGCCCATCCTCCCA 0.423000 Other conserved DNA damage response genes 46 128 0 0 0.036044 0 0 NTRK1 4914 broad.mit.edu 37 1 156845459 156845459 + Splice_Site SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:156845459G>T ENST00000368196.3 + 11 1603 c.e11+1 NTRK1_ENST00000358660.3_Splice_Site|NTRK1_ENST00000392302.2_Splice_Site|NTRK1_ENST00000524377.1_Splice_Site NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 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.?(4) 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) AGTGATGCCTGTGAGGGGCTA 0.577000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 18 36 7.45023e-12 1.00797e-11 0.010504 1 0 PTPN13 5783 broad.mit.edu 37 4 87691257 87691257 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr4:87691257G>T ENST00000436978.1 + 30 5203 c.4723G>T c.(4723-4725)Gtc>Ttc p.V1575F PTPN13_ENST00000511467.1_Missense_Mutation_p.V1575F|PTPN13_ENST00000316707.6_Missense_Mutation_p.V1379F|PTPN13_ENST00000427191.2_Missense_Mutation_p.V1551F|PTPN13_ENST00000411767.2_Missense_Mutation_p.V1570F 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) 1570 PDZ 3. cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity 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) CCCCCAGGAAGTCATATCTGC 0.443000 8 36 0.000157383 0.000176576 0.038147 1 0 ATF4P4 100127952 broad.mit.edu 37 11 113660973 113660973 + RNA SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr11:113660973G>T ENST00000393544.2 + 0 1021 CAGCAGCAGCGTTGCTGTAAC 0.577000 7 9 0.00307968 0.00332771 0.038147 1 0 PCDHGA3 56112 broad.mit.edu 37 5 140724231 140724231 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr5:140724231G>T ENST00000253812.6 + 1 631 c.631G>T c.(631-633)Gtc>Ttc p.V211F PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCACCAGCTTGTCCTGGTTGC 0.532000 15 59 3.27435e-08 4.0242e-08 0.020292 1 0 ZNF567 163081 broad.mit.edu 37 19 37210123 37210123 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr19:37210123G>T ENST00000585696.1 + 3 1634 c.404G>T c.(403-405)gGg>gTg p.G135V ZNF567_ENST00000536254.2_Missense_Mutation_p.G166V|ZNF567_ENST00000392163.2_Missense_Mutation_p.G135V|ZNF567_ENST00000588311.1_Missense_Mutation_p.G135V|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Missense_Mutation_p.G135V Q8N184 ZN567_HUMAN zinc finger protein 567 166 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AATGGATATGGGAAATCACTC 0.348000 17 70 3.41278e-10 4.50375e-10 0.033300 1 0 NRK 203447 broad.mit.edu 37 X 105197057 105197057 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chrX:105197057G>T ENST00000428173.2 + 28 4851 c.4548G>T c.(4546-4548)tgG>tgT p.W1516C NRK_ENST00000540278.1_Missense_Mutation_p.W96C|NRK_ENST00000243300.9_Missense_Mutation_p.W1515C Q7Z2Y5 NRK_HUMAN Nik related kinase 1515 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 CCACAGGATGGGGCCAAAAGG 0.423000 HNSCC(51;0.14) 8 27 7.48243e-07 8.95666e-07 0.006214 1 0 FAM120B 84498 broad.mit.edu 37 6 170627007 170627007 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr6:170627007G>T ENST00000476287.1 + 2 637 c.529G>T c.(529-531)Ggg>Tgg p.G177W FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.G189W|FAM120B_ENST00000537664.1_Missense_Mutation_p.G200W NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 177 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding 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) TGGGATTCTGGGGGAAGACAC 0.478000 37 60 8.69298e-16 1.27815e-15 0.027894 1 0 KAAG1 353219 broad.mit.edu 37 6 24358006 24358006 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr6:24358006G>T ENST00000274766.1 + 1 876 c.139G>T c.(139-141)Gct>Tct p.A47S DCDC2_ENST00000378454.3_5'UTR NM_181337.3 NP_851854.1 Q9UBP8 KAAG1_HUMAN kidney associated antigen 1 47 immune response central_nervous_system(1)|lung(1)|prostate(1) 3 GCCTCAGCTCGCTGCTTCGCG 0.672000 11 9 4.7546e-09 5.9804e-09 0.028581 1 0 TKTL1 8277 broad.mit.edu 37 X 153541038 153541038 + Missense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chrX:153541038C>A ENST00000369915.3 + 6 967 c.778C>A c.(778-780)Cca>Aca p.P260T TKTL1_ENST00000369912.2_Missense_Mutation_p.P204T|TKTL1_ENST00000217905.7_Intron NM_001145933.1|NM_012253.3 NP_001139405.1|NP_036385.3 P51854 TKTL1_HUMAN transketolase-like 1 260 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2) 34 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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) GAATCTTGACCCACAGCCCCC 0.478000 32 62 9.65021e-13 1.32228e-12 0.045705 1 0 CAB39 51719 broad.mit.edu 37 2 231658035 231658035 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr2:231658035G>T ENST00000258418.5 + 4 816 c.387G>T c.(385-387)atG>atT p.M129I CAB39_ENST00000410084.3_Missense_Mutation_p.M129I|CAB39_ENST00000409788.3_Missense_Mutation_p.M129I NM_016289.3 NP_057373.1 Q9Y376 CAB39_HUMAN calcium binding protein 39 129 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol kinase binding central_nervous_system(1)|large_intestine(1)|skin(1) 3 all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187) all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226) TTTTGTTCATGTTATTGAAAG 0.348000 19 133 5.26018e-13 7.26943e-13 0.012319 1 0 TAB2 23118 broad.mit.edu 37 6 149700090 149700090 + Silent SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr6:149700090C>A ENST00000367456.1 + 4 1616 c.1039C>A c.(1039-1041)Cga>Aga p.R347R TAB2_ENST00000536230.1_Silent_p.R315R|TAB2_ENST00000538427.1_Silent_p.R347R|TAB2_ENST00000286332.5_Silent_p.R347R|TAB2_ENST00000392282.1_Silent_p.R347R Q9NYJ8 TAB2_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 2 347 activation of MAPK activity|heart development|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 I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|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|plasma membrane K63-linked polyubiquitin binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 22 TTCTGGACCTCGAACCTCCAG 0.433000 5 208 0.00116845 0.00127973 0.021553 1 0 OLFML2B 25903 broad.mit.edu 37 1 161970075 161970075 + Silent SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:161970075G>A ENST00000294794.3 - 5 1200 c.777C>T c.(775-777)atC>atT p.I259I OLFML2B_ENST00000367940.2_Silent_p.I260I NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 259 p.I259I(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GCAGAAGTTCGATGGAGTTGA 0.617000 63 102 0 0 0.014410 0 0 FOXA1 3169 broad.mit.edu 37 14 38061776 38061776 + Silent SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr14:38061776C>A ENST00000250448.2 - 2 274 c.213G>T c.(211-213)ccG>ccT p.P71P FOXA1_ENST00000540786.1_Silent_p.P38P|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 71 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) CCCCTAGGCCCGGGTTGGCAT 0.652000 37 47 1.59361e-14 2.27054e-14 0.027894 1 0 ZNF618 114991 broad.mit.edu 37 9 116750742 116750742 + Silent SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr9:116750742G>A ENST00000288466.7 + 3 318 c.219G>A c.(217-219)gaG>gaA p.E73E ZNF618_ENST00000374126.5_Silent_p.E73E NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 73 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 ACATCCAGGAGGTGATCTGGC 0.642000 22 50 0 0 0.014323 0 0 DOCK2 1794 broad.mit.edu 37 5 169143299 169143299 + Missense_Mutation SNP A A G TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr5:169143299A>G ENST00000256935.8 + 20 2104 c.2024A>G c.(2023-2025)gAt>gGt p.D675G DOCK2_ENST00000520908.1_Missense_Mutation_p.D167G|DOCK2_ENST00000540750.1_5'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 675 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTCGTCTTTGATGCCTTGGTA 0.428000 24 343 0 0 0.018920 0 0 FBN3 84467 broad.mit.edu 37 19 8206690 8206690 + Missense_Mutation SNP T T C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr19:8206690T>C ENST00000600128.1 - 8 1190 c.776A>G c.(775-777)cAg>cGg p.Q259R FBN3_ENST00000270509.2_Missense_Mutation_p.Q259R|FBN3_ENST00000601739.1_Missense_Mutation_p.Q259R Q75N90 FBN3_HUMAN fibrillin 3 259 EGF-like 2; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GCTGCCTCcctggcacaggcc 0.622000 15 29 0 0 0.008871 0 0 SVEP1 79987 broad.mit.edu 37 9 113275213 113275213 + Nonsense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr9:113275213G>T ENST00000401783.2 - 5 1632 c.1296C>A c.(1294-1296)taC>taA p.Y432* SVEP1_ENST00000302728.8_Nonsense_Mutation_p.Y432*|SVEP1_ENST00000374461.1_Nonsense_Mutation_p.Y409*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.Y409*|SVEP1_ENST00000467821.1_5'UTR NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 432 Sushi 1. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding 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 TACCTCTGCAGTAGCTCTCTG 0.428000 63 116 2.32817e-41 3.82485e-41 0.014410 1 0 IGFBP4 3487 broad.mit.edu 37 17 38609369 38609369 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr17:38609369C>T ENST00000269593.4 + 2 757 c.482C>T c.(481-483)gCg>gTg p.A161V IGFBP4_ENST00000542955.1_Missense_Mutation_p.A61V NM_001552.2 NP_001543.2 P22692 IBP4_HUMAN insulin-like growth factor binding protein 4 161 DNA metabolic process|signal transduction|skeletal system development NS(1)|endometrium(1)|kidney(1)|large_intestine(2) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) GTCAATGGGGCGCCCCGGGAG 0.612000 6 41 0 0 0.038147 0 0 SYNE2 23224 broad.mit.edu 37 14 64428310 64428310 + Silent SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr14:64428310C>T ENST00000358025.3 + 9 1085 c.855C>T c.(853-855)tcC>tcT p.S285S SYNE2_ENST00000554584.1_Silent_p.S285S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.S285S NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 285 Actin-binding.|CH 2. 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 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) TGCAGTATTCCAAAGATGCCC 0.393000 19 39 0 0 0.008871 0 0 SMG5 23381 broad.mit.edu 37 1 156237397 156237397 + Silent SNP C C G TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:156237397C>G ENST00000361813.5 - 10 1125 c.981G>C c.(979-981)ctG>ctC p.L327L SMG5_ENST00000368267.4_Intron NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 327 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) GTGAGGAGGGCAGGTAGAAGA 0.552000 14 76 0 0 0.024245 0 0 INPP5D 3635 broad.mit.edu 37 2 233925269 233925269 + Missense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr2:233925269C>A ENST00000359570.5 + 1 81 c.81C>A c.(79-81)agC>agA p.S27R INPP5D_ENST00000538935.1_Missense_Mutation_p.S27R Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 27 SH2. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) AGGACGGGAGCTTCCTCGTGC 0.652000 16 43 8.60227e-14 1.19394e-13 0.028581 1 0 TPO 7173 broad.mit.edu 37 2 1480976 1480976 + Missense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr2:1480976C>A ENST00000345913.4 + 8 1029 c.938C>A c.(937-939)cCg>cAg p.P313Q TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.P313Q|TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.P313Q|TPO_ENST00000337415.3_Missense_Mutation_p.P313Q|TPO_ENST00000329066.4_Missense_Mutation_p.P313Q NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 313 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 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) ACGGCCAACCCGCGGCAGCAG 0.697000 7 12 0.00198382 0.00215081 0.029380 1 0 PADI4 23569 broad.mit.edu 37 1 17634806 17634806 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:17634806G>T ENST00000375448.4 + 1 115 c.89G>T c.(88-90)tGc>tTc p.C30F PADI4_ENST00000375453.1_Missense_Mutation_p.C30F NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 30 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 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) CTTGACATCTGCAGGTAAGAG 0.597000 14 45 1.3612e-06 1.62336e-06 0.024245 1 0 STK25 10494 broad.mit.edu 37 2 242437747 242437747 + Missense_Mutation SNP T T A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr2:242437747T>A ENST00000316586.4 - 9 1284 c.935A>T c.(934-936)gAc>gTc p.D312V STK25_ENST00000478403.1_5'UTR|STK25_ENST00000543554.1_Missense_Mutation_p.D218V|STK25_ENST00000535007.1_Missense_Mutation_p.D218V|STK25_ENST00000405585.1_Missense_Mutation_p.D235V|STK25_ENST00000403346.3_Missense_Mutation_p.D312V|STK25_ENST00000401869.1_Missense_Mutation_p.D312V|STK25_ENST00000405883.3_Missense_Mutation_p.D235V NM_001271977.1|NM_001271978.1 NP_001258906.1|NP_001258907.1 O00506 STK25_HUMAN serine/threonine kinase 25 312 response to oxidative stress|signal transduction Golgi apparatus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 10 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) CTGCTCCCCGTCCTCCGCCTC 0.657000 9 22 0 0 0.008291 0 0 FNDC1 84624 broad.mit.edu 37 6 159653930 159653930 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr6:159653930G>T ENST00000297267.9 + 11 2586 c.2386G>T c.(2386-2388)Gac>Tac p.D796Y FNDC1_ENST00000340366.6_Missense_Mutation_p.D733Y NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 796 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CGATAGGGAAGACGGCGGAAG 0.632000 7 11 1.12685e-05 1.31466e-05 0.004482 1 0 PIP4K2A 5305 broad.mit.edu 37 10 22898559 22898559 + Missense_Mutation SNP G G C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr10:22898559G>C ENST00000376573.4 - 2 460 c.232C>G c.(232-234)Ctt>Gtt p.L78V PIP4K2A_ENST00000422321.1_5'UTR|PIP4K2A_ENST00000545335.1_Missense_Mutation_p.L19V NM_005028.4 NP_005019.2 P48426 PI42A_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, alpha 78 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 29 TTGTTAAAAAGGTGATTGTCC 0.348000 51 110 0 0 0.014410 0 0 CRB1 23418 broad.mit.edu 37 1 197404574 197404574 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:197404574G>T ENST00000367397.1 + 5 2582 c.1724G>T c.(1723-1725)aGa>aTa p.R575I CRB1_ENST00000544212.1_Missense_Mutation_p.R675I|CRB1_ENST00000535699.1_Missense_Mutation_p.R1170I|CRB1_ENST00000367400.3_Missense_Mutation_p.R1194I|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.R1082I P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1194 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding 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 TGCTCTGACAGAGTTGCAGCC 0.493000 27 53 1.16021e-09 1.48839e-09 0.034045 1 0 CCDC147 159686 broad.mit.edu 37 10 106121900 106121900 + Silent SNP G G C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr10:106121900G>C ENST00000369704.3 + 3 545 c.411G>C c.(409-411)ggG>ggC p.G137G CCDC147_ENST00000312902.5_5'UTR NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 137 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) TGGAGCAGGGGTCTGGACTGT 0.483000 10 70 0 0 0.008291 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33960310 33960310 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:33960310C>T ENST00000361328.3 + 8 2519 c.2366C>T c.(2365-2367)aCg>aTg p.T789M NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 789 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AGAATTCACACGGGGGAAAAG 0.438000 11 390 0 0 0.008291 0 0 PIEZO2 63895 broad.mit.edu 37 18 10672704 10672704 + Silent SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr18:10672704C>T ENST00000302079.6 - 50 7799 c.7800G>A c.(7798-7800)ggG>ggA p.G2600G PIEZO2_ENST00000538948.1_Silent_p.G620G|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000503781.3_Silent_p.G2663G|PIEZO2_ENST00000285141.4_Silent_p.G455G|PIEZO2_ENST00000580640.1_Silent_p.G2688G Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2663 integral to membrane ion channel activity CAGCCAGGAACCCCAGACTTG 0.463000 11 192 0 0 0.020292 0 0 ZNF608 57507 broad.mit.edu 37 5 123984261 123984261 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr5:123984261C>T ENST00000306315.5 - 4 2251 c.1816G>A c.(1816-1818)Gca>Aca p.A606T ZNF608_ENST00000504926.1_Missense_Mutation_p.A179T NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 606 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) CATTCAAGTGCCACATTACTC 0.537000 5 157 0 0 0.014758 0 0 KHNYN 23351 broad.mit.edu 37 14 24901122 24901122 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr14:24901122G>T ENST00000251343.5 + 3 794 c.655G>T c.(655-657)Gct>Tct p.A219S KHNYN_ENST00000556842.1_Missense_Mutation_p.A219S|KHNYN_ENST00000553935.1_Missense_Mutation_p.A219S O15037 KHNYN_HUMAN KH and NYN domain containing 219 kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3) 24 CTTGCTGGGTGCTCAGTGCCA 0.642000 OREG0022627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 92 8.69298e-16 1.27815e-15 0.027894 1 0 WNT2B 7482 broad.mit.edu 37 1 113059924 113059924 + Missense_Mutation SNP G G A rs143127439 TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:113059924G>A ENST00000369684.4 + 4 1348 c.863G>A c.(862-864)cGc>cAc p.R288H WNT2B_ENST00000256640.5_Missense_Mutation_p.R196H|WNT2B_ENST00000369686.4_Missense_Mutation_p.R269H NM_024494.2 NP_078613.1 Q93097 WNT2B_HUMAN wingless-type MMTV integration site family, member 2B 288 chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1) 18 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ACCGCAGCCCGCCAAGGCTAT 0.572000 9 48 0 0 0.004482 0 0 LRP1B 53353 broad.mit.edu 37 2 141625201 141625201 + Missense_Mutation SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr2:141625201G>A ENST00000389484.3 - 27 5508 c.4537C>T c.(4537-4539)Cca>Tca p.P1513S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1513 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding 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) AGGTCAAATGGCTGTGCACTG 0.448000 TSP Lung(27;0.18) 11 389 0 0 0.010729 0 0 ZNF80 7634 broad.mit.edu 37 3 113955745 113955745 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr3:113955745G>T ENST00000482457.2 - 1 680 c.177C>A c.(175-177)aaC>aaA p.N59K NM_007136.3 NP_009067.2 P51504 ZNF80_HUMAN zinc finger protein 80 59 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2) 32 Lung NSC(201;0.0233)|all_neural(597;0.0837) GGCTGTTTTTGTTAAACACGC 0.478000 20 89 3.5997e-14 5.08379e-14 0.014323 1 0 GRM4 2914 broad.mit.edu 37 6 34008347 34008347 + Nonsense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr6:34008347G>T ENST00000374181.3 - 6 1516 c.1347C>A c.(1345-1347)taC>taA p.Y449* GRM4_ENST00000455714.2_Nonsense_Mutation_p.Y309*|GRM4_ENST00000538487.1_Nonsense_Mutation_p.Y449*|GRM4_ENST00000545715.1_Nonsense_Mutation_p.Y141*|GRM4_ENST00000535756.1_Nonsense_Mutation_p.Y316*|GRM4_ENST00000374177.3_Nonsense_Mutation_p.Y333*|GRM4_ENST00000544773.1_Nonsense_Mutation_p.Y280* NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 449 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) CGTTTCGGATGTACTTAAGCA 0.662000 12 23 3.41278e-10 4.50375e-10 0.033300 1 0 HFE2 148738 broad.mit.edu 37 1 145416843 145416843 + Silent SNP C C G TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:145416843C>G ENST00000336751.5 + 4 1426 c.1188C>G c.(1186-1188)ctC>ctG p.L396L HFE2_ENST00000497365.1_Silent_p.L170L|HFE2_ENST00000475797.1_Silent_p.L170L|HFE2_ENST00000357836.5_Silent_p.L283L NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 396 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AGCTGCATCTCTTCCCCTCAG 0.522000 5 118 0 0 0.021553 0 0 FAM65C 140876 broad.mit.edu 37 20 49218697 49218697 + Missense_Mutation SNP A A G TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr20:49218697A>G ENST00000327979.2 - 13 1970 c.1559T>C c.(1558-1560)gTc>gCc p.V520A FAM65C_ENST00000535356.1_Missense_Mutation_p.V524A|FAM65C_ENST00000045083.2_Missense_Mutation_p.V520A Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 520 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CAACTCCAGGACCTCCTGCAG 0.697000 8 22 0 0 0.008291 0 0 AZI2 64343 broad.mit.edu 37 3 28368430 28368430 + Missense_Mutation SNP T T G TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr3:28368430T>G ENST00000479665.1 - 7 1190 c.659A>C c.(658-660)cAg>cCg p.Q220P AZI2_ENST00000295748.3_5'UTR NM_022461.3 NP_071906.1 Q9H6S1 AZI2_HUMAN 5-azacytidine induced 2 220 Interaction with TBK1. mitochondrion|plasma membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 GTATGCATGCTGCATATTATC 0.313000 16 88 0 0 0.028581 0 0 HERC2P3 283755 broad.mit.edu 37 15 20644051 20644051 + RNA SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr15:20644051C>A ENST00000428453.1 - 0 3408 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 TTCTCGGAATCAGGGAAGTAG 0.597000 7 20 2.17888e-05 2.52374e-05 0.006214 1 0 ESPNP 284729 broad.mit.edu 37 1 17030482 17030482 + RNA SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:17030482C>T ENST00000492551.1 - 0 853 NR_026567.1 GCTGGAGGAGCAGGAGTCGTA 0.622000 6 109 0 0 0.021553 0 0 EEF2K 29904 broad.mit.edu 37 16 22269910 22269910 + Silent SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr16:22269910C>T ENST00000263026.5 + 10 1599 c.1125C>T c.(1123-1125)ccC>ccT p.P375P NM_013302.3 NP_037434.1 O00418 EF2K_HUMAN eukaryotic elongation factor-2 kinase 375 insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) TGCTCCGTCCCCTTTCAGAGA 0.572000 15 70 0 0 0.020292 0 0 ZNF354C 30832 broad.mit.edu 37 5 178503473 178503473 + Missense_Mutation SNP G G C rs138654012 TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr5:178503473G>C ENST00000315475.6 + 3 361 c.55G>C c.(55-57)Gtg>Ctg p.V19L NM_014594.1 NP_055409.1 Q86Y25 Z354C_HUMAN zinc finger protein 354C 19 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3) 30 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) GGATGTGGCCGTGTTCTTCAG 0.557000 37 100 0 0 0.023175 0 0 CARD11 84433 broad.mit.edu 37 7 2954996 2954996 + Missense_Mutation SNP C C G TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr7:2954996C>G ENST00000396946.4 - 21 3117 c.2714G>C c.(2713-2715)aGg>aCg p.R905T NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 905 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GTTCTCGGACCTGCTGACGAA 0.612000 Mis DLBCL 8 22 0 0 0.006214 0 0 SLC2A12 154091 broad.mit.edu 37 6 134350264 134350264 + Silent SNP A A G TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr6:134350264A>G ENST00000275230.5 - 2 854 c.699T>C c.(697-699)gcT>gcC p.A233A NM_145176.2 NP_660159.1 Q8TD20 GTR12_HUMAN solute carrier family 2 (facilitated glucose transporter), member 12 233 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) GAACCTTGCTAGCAGCTCCCT 0.443000 3 188 0 0 0.004672 0 0 CECR2 27443 broad.mit.edu 37 22 18018822 18018822 + Missense_Mutation SNP G G C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr22:18018822G>C ENST00000342247.5 + 12 1436 c.1359G>C c.(1357-1359)agG>agC p.R453S CECR2_ENST00000262608.8_Intron|CECR2_ENST00000400585.2_Intron|CECR2_ENST00000400573.4_Intron Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 0 Bromo. chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) AGCAGGGAAGGAGTTTGTGCT 0.378000 12 68 0 0 0.016723 0 0 ATP2B4 493 broad.mit.edu 37 1 203678661 203678661 + Missense_Mutation SNP T T C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:203678661T>C ENST00000357681.5 + 11 2913 c.1790T>C c.(1789-1791)aTc>aCc p.I597T ATP2B4_ENST00000367218.3_Missense_Mutation_p.I597T|ATP2B4_ENST00000391954.2_Missense_Mutation_p.I597T|ATP2B4_ENST00000367219.3_Missense_Mutation_p.I585T|ATP2B4_ENST00000341360.2_Missense_Mutation_p.I597T NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 597 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) TCTGAGATCATCTTGCGCAAG 0.547000 7 57 0 0 0.038147 0 0 DIRAS2 54769 broad.mit.edu 37 9 93375674 93375674 + Missense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr9:93375674C>A ENST00000375765.3 - 2 824 c.436G>T c.(436-438)Gcc>Tcc p.A146S NM_017594.3 NP_060064.2 Q96HU8 DIRA2_HUMAN DIRAS family, GTP-binding RAS-like 2 146 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity kidney(1)|large_intestine(6)|lung(3)|skin(2) 12 TCCATGAAGGCACACTTCCAT 0.597000 34 82 1.06647e-15 1.56093e-15 0.017118 1 0 CDKL4 344387 broad.mit.edu 37 2 39406328 39406328 + Missense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr2:39406328C>A ENST00000378803.1 - 8 926 c.927G>T c.(925-927)caG>caT p.Q309H CDKL4_ENST00000395035.3_Splice_Site_p.Q309_splice NM_001009565.1 NP_001009565.1 Q5MAI5 CDKL4_HUMAN cyclin-dependent kinase-like 4 309 cytoplasm ATP binding|cyclin-dependent protein kinase activity breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1) 12 all_hematologic(82;0.248) GCGGAAGTACCTGTTGGCGTC 0.398000 19 314 6.33239e-15 9.06235e-15 0.010504 1 0 GTF3C1 2975 broad.mit.edu 37 16 27476787 27476787 + Nonsense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr16:27476787C>A ENST00000356183.4 - 33 5164 c.5149G>T c.(5149-5151)Gaa>Taa p.E1717* GTF3C1_ENST00000561623.1_Nonsense_Mutation_p.E1717* NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1717 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 CAGGTGTTTTCCTGGGGGTTT 0.537000 14 55 2.98522e-18 4.51286e-18 0.024245 1 0 MXRA5 25878 broad.mit.edu 37 X 3242840 3242840 + Missense_Mutation SNP G G C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chrX:3242840G>C ENST00000217939.6 - 5 1040 c.886C>G c.(886-888)Caa>Gaa p.Q296E NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 296 extracellular region 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) TCCTGTTCTTGCTCCTCCTCA 0.498000 30 156 0 0 0.037714 0 0 GPR15 2838 broad.mit.edu 37 3 98251773 98251773 + Missense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr3:98251773C>A ENST00000284311.3 + 1 1031 c.896C>A c.(895-897)cCt>cAt p.P299H NM_005290.1 NP_005281.1 P49685 GPR15_HUMAN G protein-coupled receptor 15 299 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) TGTGTCAACCCTTTCATTTAC 0.493000 85 116 3.24273e-39 5.27353e-39 0.014410 1 0 PTK2B 2185 broad.mit.edu 37 8 27296831 27296831 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr8:27296831G>T ENST00000397501.1 + 25 2558 c.1750G>T c.(1750-1752)Gtg>Ttg p.V584L PTK2B_ENST00000338238.4_Missense_Mutation_p.V584L|PTK2B_ENST00000397497.4_Missense_Mutation_p.V330L|PTK2B_ENST00000420218.2_Missense_Mutation_p.V584L|PTK2B_ENST00000517339.1_Missense_Mutation_p.V584L|PTK2B_ENST00000544172.1_Missense_Mutation_p.V584L|PTK2B_ENST00000346049.5_Missense_Mutation_p.V584L NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 584 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 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) CAAAGCCTCTGTGACTCGTCT 0.488000 59 99 7.57603e-17 1.12939e-16 0.014410 1 0 NLRP3 114548 broad.mit.edu 37 1 247588134 247588134 + Missense_Mutation SNP C C G rs104895398 byFrequency TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:247588134C>G ENST00000366497.2 + 4 2169 c.1389C>G c.(1387-1389)tgC>tgG p.C463W NLRP3_ENST00000391828.3_Missense_Mutation_p.C463W|NLRP3_ENST00000391827.2_Missense_Mutation_p.C463W|NLRP3_ENST00000366496.2_Missense_Mutation_p.C463W|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.C463W|NLRP3_ENST00000336119.3_Missense_Mutation_p.C463W NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 463 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) ACGGCCTCTGCGCCCACCTCT 0.592000 9 56 0 0 0.010729 0 0 MT1JP 4498 broad.mit.edu 37 16 56670402 56670402 + RNA SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr16:56670402C>A ENST00000564564.1 + 0 728 TGCAAATGCACCTCCTGCAAG 0.577000 5 32 0.0215528 0.0226058 0.021553 1 0 ALOX12 239 broad.mit.edu 37 17 6913618 6913618 + Missense_Mutation SNP T T A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr17:6913618T>A ENST00000251535.6 + 14 1921 c.1868T>A c.(1867-1869)gTg>gAg p.V623E AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000573939.1_Intron NM_000697.2 NP_000688.2 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase 623 Lipoxygenase. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 CCCAAAGCTGTGCTAAACCAA 0.473000 51 102 0 0 0.014410 0 0 KIF4B 285643 broad.mit.edu 37 5 154396718 154396718 + Missense_Mutation SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr5:154396718G>A ENST00000435029.4 + 1 3459 c.3299G>A c.(3298-3300)gGg>gAg p.G1100E NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 1100 Globular (By similarity).|Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AAGCAGTGTGGGTGCAGGAAG 0.527000 12 73 0 0 0.010729 0 0 PSKH2 85481 broad.mit.edu 37 8 87076698 87076698 + Missense_Mutation SNP G G C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr8:87076698G>C ENST00000276616.2 - 2 422 c.348C>G c.(346-348)agC>agG p.S116R PSKH2_ENST00000517981.1_5'UTR NM_033126.1 NP_149117.1 Q96QS6 KPSH2_HUMAN protein serine kinase H2 116 Protein kinase. S -> I (in a lung adenocarcinoma sample; somatic mutation). ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1) 47 STAD - Stomach adenocarcinoma(118;0.129) TGTAACGATGGCTAACCCGCC 0.502000 21 120 0 0 0.014323 0 0 EPHB1 2047 broad.mit.edu 37 3 134851646 134851646 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr3:134851646G>T ENST00000398015.3 + 5 1422 c.1052G>T c.(1051-1053)cGg>cTg p.R351L EPHB1_ENST00000488154.1_3'UTR|EPHB1_ENST00000493838.1_5'UTR NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 351 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding 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 ACAGGTGGGCGGGATGATGTG 0.587000 14 38 4.36969e-10 5.71968e-10 0.016723 1 0 UBA3 9039 broad.mit.edu 37 3 69127009 69127009 + Silent SNP T T A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr3:69127009T>A ENST00000361055.4 - 3 177 c.123A>T c.(121-123)gtA>gtT p.V41V UBA3_ENST00000540295.1_5'UTR|UBA3_ENST00000349511.4_Silent_p.V27V|UBA3_ENST00000415609.2_Silent_p.V27V NM_003968.3 NP_003959.3 Q8TBC4 UBA3_HUMAN ubiquitin-like modifier activating enzyme 3 41 protein neddylation|proteolysis nucleus acid-amino acid ligase activity|ATP binding|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) GGAACTTCTTTACATGGTTCC 0.453000 37 194 0 0 0.021022 0 0 HFE2 148738 broad.mit.edu 37 1 145416898 145416898 + Missense_Mutation SNP C C G TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:145416898C>G ENST00000336751.5 + 4 1481 c.1243C>G c.(1243-1245)Ctt>Gtt p.L415V HFE2_ENST00000497365.1_Missense_Mutation_p.L189V|HFE2_ENST00000475797.1_Missense_Mutation_p.L189V|HFE2_ENST00000357836.5_Missense_Mutation_p.L302V NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 415 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AGCTCCACTCCTTTCTGGGCT 0.498000 4 191 0 0 0.009096 0 0 GAB4 128954 broad.mit.edu 37 22 17445725 17445725 + Silent SNP T T C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr22:17445725T>C ENST00000400588.1 - 8 1514 c.1407A>G c.(1405-1407)caA>caG p.Q469Q NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 469 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) AGATGGGGTGTTGGGAGGAGC 0.582000 15 52 0 0 0.033300 0 0 CDKL4 344387 broad.mit.edu 37 2 39406327 39406327 + Missense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr2:39406327C>A ENST00000378803.1 - 8 927 c.928G>T c.(928-930)Gta>Tta p.V310L CDKL4_ENST00000395035.3_Splice_Site NM_001009565.1 NP_001009565.1 Q5MAI5 CDKL4_HUMAN cyclin-dependent kinase-like 4 310 cytoplasm ATP binding|cyclin-dependent protein kinase activity breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1) 12 all_hematologic(82;0.248) AGCGGAAGTACCTGTTGGCGT 0.393000 19 313 6.33239e-15 9.06235e-15 0.010504 1 0 MATN4 8785 broad.mit.edu 37 20 43933171 43933171 + Nonsense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr20:43933171C>A ENST00000537548.1 - 4 584 c.340G>T c.(340-342)Gga>Tga p.G114* MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372756.1_Nonsense_Mutation_p.G114*|MATN4_ENST00000353917.5_Nonsense_Mutation_p.G114*|MATN4_ENST00000342716.4_Nonsense_Mutation_p.G114*|MATN4_ENST00000360607.5_Nonsense_Mutation_p.G114*|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372754.1_Nonsense_Mutation_p.G114* O95460 MATN4_HUMAN matrilin 4 114 VWFA 1. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) ATTGCCAGTCCCGTCATGGTG 0.667000 14 32 6.31663e-08 7.70437e-08 0.024245 1 0 JKAMP 51528 broad.mit.edu 37 14 59965536 59965536 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr14:59965536G>T ENST00000554271.1 + 5 1118 c.592G>T c.(592-594)Ggg>Tgg p.G198W RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000261247.9_Missense_Mutation_p.G184W|JKAMP_ENST00000425728.2_Missense_Mutation_p.G178W|JKAMP_ENST00000356057.5_Missense_Mutation_p.G192W Q9P055 JKAMP_HUMAN JNK1/MAPK8-associated membrane protein 199 ER-associated protein catabolic process|response to unfolded protein endoplasmic reticulum membrane|integral to membrane ubiquitin protein ligase binding breast(1)|endometrium(1)|kidney(1)|lung(3) 6 ATGTGGGTTAGGGAAATCTGA 0.378000 25 39 9.57634e-11 1.27949e-10 0.018920 1 0 CDH6 1004 broad.mit.edu 37 5 31267788 31267788 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr5:31267788G>T ENST00000265071.2 + 2 473 c.208G>T c.(208-210)Gat>Tat p.D70Y CDH6_ENST00000514738.1_Missense_Mutation_p.D15Y NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 70 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CACAGGATCCGATTATCAGTA 0.443000 25 130 9.90768e-06 1.1601e-05 0.024334 1 0 P4HA3 283208 broad.mit.edu 37 11 74000151 74000151 + Missense_Mutation SNP T T A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr11:74000151T>A ENST00000331597.4 - 5 787 c.742A>T c.(742-744)Agc>Tgc p.S248C P4HA3_ENST00000427714.2_Missense_Mutation_p.S248C NM_182904.3 NP_878907.1 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha polypeptide III 248 endoplasmic reticulum lumen 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-proline 4-dioxygenase activity NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1) 15 Breast(11;2.31e-05) cgagagaggctgagggcacac 0.403000 6 14 0 0 0.038147 0 0 SBDS 51119 broad.mit.edu 37 7 66456124 66456124 + Splice_Site SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr7:66456124G>A ENST00000246868.2 - 4 807 c.624_splice c.e4+1 p.I208_splice NM_016038.2 NP_057122.2 Q9Y3A5 SBDS_HUMAN Shwachman-Bodian-Diamond syndrome 208 bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing cytoplasm|nucleolus|nucleoplasm|spindle pole microtubule binding|ribosome binding|rRNA binding cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 7 TGACTCTTACGATTTCTAACT 0.338000 Gene Conversion """AML, MDS""" Shwachman-Diamond syndrome 4 27 0 0 0.014758 0 0 KCNB2 9312 broad.mit.edu 37 8 73848509 73848509 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr8:73848509C>T ENST00000523207.1 + 3 1507 c.919C>T c.(919-921)Cgc>Tgc p.R307C NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 307 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding 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) CCGAATCATGCGCATCCTCAG 0.512000 4 143 0 0 0.009096 0 0 CSMD3 114788 broad.mit.edu 37 8 113516138 113516138 + Missense_Mutation SNP A A G TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr8:113516138A>G ENST00000297405.5 - 30 5208 c.4964T>C c.(4963-4965)aTt>aCt p.I1655T CSMD3_ENST00000455883.2_Missense_Mutation_p.I1551T|CSMD3_ENST00000352409.3_Missense_Mutation_p.I1655T|CSMD3_ENST00000343508.3_Missense_Mutation_p.I1615T NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1655 CUB 9. 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 AAAACTTCCAATCAGTGGGCT 0.368000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 94 191 0 0 0.014410 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162297 33162297 + RNA SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr5:33162297C>A ENST00000510327.1 - 0 346 GGGCATCTCTCGGGACAACTG 0.507000 22 67 2.12542e-12 2.89993e-12 0.030593 1 0 ZNF564 163050 broad.mit.edu 37 19 12637812 12637812 + Silent SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr19:12637812G>A ENST00000339282.7 - 4 1306 c.1110C>T c.(1108-1110)tgC>tgT p.C370C CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron NM_144976.3 NP_659413.1 zinc finger protein 564 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 AGGCTTTCCCGCATTCCTTAC 0.418000 4 164 0 0 0.009096 0 0 C1orf54 79630 broad.mit.edu 37 1 150245265 150245265 + Splice_Site SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:150245265G>T ENST00000369102.1 + 3 815 c.46_splice c.e3+1 p.L15_splice C1orf54_ENST00000369098.3_Splice_Site_p.L15_splice|C1orf54_ENST00000369099.3_Splice_Site_p.L15_splice Q8WWF1 CA054_HUMAN chromosome 1 open reading frame 54 15 extracellular region breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1) 7 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CACTTATCCTGGGTAAGTCCA 0.443000 32 176 3.76114e-14 5.28858e-14 0.019004 1 0 ACACA 31 broad.mit.edu 37 17 35687289 35687289 + Silent SNP A A G TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr17:35687289A>G ENST00000353139.5 - 3 643 c.162T>C c.(160-162)tcT>tcC p.S54S ACACA_ENST00000588142.1_Silent_p.S17S|ACACA_ENST00000394406.2_Silent_p.S17S|ACACA_ENST00000416895.1_Silent_p.S17S NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 17 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TTATGAATCGAGAGTGCTGGT 0.468000 47 251 0 0 0.014410 0 0 ZNF229 7772 broad.mit.edu 37 19 44932705 44932705 + Missense_Mutation SNP G G C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr19:44932705G>C ENST00000291187.4 - 6 2555 c.2233C>G c.(2233-2235)Cag>Gag p.Q745E ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.Q751E|CTC-512J12.4_ENST00000588655.1_RNA NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 751 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) TGTGAGCTCTGACTATAGCCC 0.512000 20 89 0 0 0.012319 0 0 RSPH1 89765 broad.mit.edu 37 21 43896062 43896062 + Silent SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr21:43896062G>T ENST00000291536.3 - 8 990 c.823C>A c.(823-825)Cgg>Agg p.R275R RSPH1_ENST00000398352.3_Silent_p.R237R NM_080860.2 NP_543136.1 Q8WYR4 RSPH1_HUMAN radial spoke head 1 homolog (Chlamydomonas) 275 meiosis cytosol|nucleus large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1) 12 CTCTCTTCCCGGAGGACGTCT 0.637000 17 58 3.99206e-14 5.58888e-14 0.043863 1 0 PHTF1 10745 broad.mit.edu 37 1 114267487 114267487 + Missense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:114267487C>A ENST00000369604.1 - 7 1000 c.517G>T c.(517-519)Ggg>Tgg p.G173W PHTF1_ENST00000357783.2_Missense_Mutation_p.G173W|PHTF1_ENST00000369598.1_Intron|PHTF1_ENST00000447664.2_Missense_Mutation_p.G173W|PHTF1_ENST00000393357.2_Missense_Mutation_p.G173W|PHTF1_ENST00000369596.2_Missense_Mutation_p.G120W|PHTF1_ENST00000369600.1_Missense_Mutation_p.G120W Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 173 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCTCGGCTCCCATCACCATTT 0.343000 3 41 0.00909568 0.00963424 0.009096 1 0 LRIT2 340745 broad.mit.edu 37 10 85982019 85982019 + Missense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr10:85982019C>A ENST00000372113.4 - 3 1315 c.1310G>T c.(1309-1311)gGc>gTc p.G437V LRIT2_ENST00000538192.1_Missense_Mutation_p.G447V NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 437 Fibronectin type-III. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 TGGAGGCTGGCCCTCTAGGCT 0.557000 25 94 2.40579e-17 3.60309e-17 0.025465 1 0 ADAMTS7 11173 broad.mit.edu 37 15 79051803 79051803 + Missense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr15:79051803C>A ENST00000388820.4 - 24 5231 c.5021G>T c.(5020-5022)gGc>gTc p.G1674V NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1674 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 GGAGGGGGCGCCGTGGCTGGG 0.716000 2 1 0.0016 0.00174054 0.004672 1 0 GNAZ 2781 broad.mit.edu 37 22 23438214 23438214 + Missense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr22:23438214C>A ENST00000248996.4 + 2 998 c.332C>A c.(331-333)aCg>aAg p.T111K RTDR1_ENST00000216036.4_Intron NM_002073.2 NP_002064.1 P19086 GNAZ_HUMAN guanine nucleotide binding protein (G protein), alpha z polypeptide 111 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) TTTGCGCTGACGGGCCCCGCT 0.687000 14 33 2.23348e-06 2.63437e-06 0.028581 1 0 LRIG3 121227 broad.mit.edu 37 12 59277358 59277358 + Silent SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr12:59277358G>A ENST00000320743.3 - 11 1546 c.1260C>T c.(1258-1260)aaC>aaT p.N420N LRIG3_ENST00000379141.4_Silent_p.N360N NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 420 integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) ACATGATTGCGTTGTCACTCA 0.418000 T ROS1 NSCLC 45 119 0 0 0.014410 0 0 WDR78 79819 broad.mit.edu 37 1 67370902 67370902 + Silent SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:67370902G>A ENST00000371026.3 - 2 382 c.327C>T c.(325-327)ccC>ccT p.P109P WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000488333.1_Silent_p.P37P|WDR78_ENST00000371022.3_Silent_p.P109P|WDR78_ENST00000371023.3_Silent_p.P109P NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 109 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 TCTTTATATTGGGATTTGGTT 0.338000 69 442 0 0 0.014410 0 0 SHPRH 257218 broad.mit.edu 37 6 146234621 146234621 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr6:146234621C>T ENST00000367503.3 - 24 4729 c.4331G>A c.(4330-4332)gGa>gAa p.G1444E SHPRH_ENST00000438092.2_Missense_Mutation_p.G1444E|SHPRH_ENST00000275233.7_Missense_Mutation_p.G1440E|SHPRH_ENST00000367505.2_Missense_Mutation_p.G1440E NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 1440 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TACCTGTTTTCCTAGCTGTCG 0.328000 8 148 0 0 0.010729 0 0 EPX 8288 broad.mit.edu 37 17 56274428 56274428 + Silent SNP C C T rs150544366 byFrequency TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr17:56274428C>T ENST00000225371.5 + 7 1040 c.930C>T c.(928-930)gaC>gaT p.D310D NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 310 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 CCTTTGTGGACGCCAGCATGG 0.597000 66 141 0 0 0.014410 0 0 RAB11FIP2 22841 broad.mit.edu 37 10 119805526 119805526 + Missense_Mutation SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr10:119805526G>A ENST00000355624.3 - 1 588 c.149C>T c.(148-150)tCt>tTt p.S50F RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.S50F NM_014904.2 NP_055719.1 Q7L804 RFIP2_HUMAN RAB11 family interacting protein 2 (class I) 50 C2.|Necessary for its cellular translocation to the plasma membrane. protein transport plasma membrane|recycling endosome membrane protein homodimerization activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8) 19 Colorectal(252;0.235) all cancers(201;0.0238) CTCAGCTACAGAGGTGGAGTA 0.458000 21 174 0 0 0.008871 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589765 140589765 + Missense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr5:140589765C>A ENST00000239450.2 + 1 1475 c.1286C>A c.(1285-1287)cCc>cAc p.P429H PCDHB12_ENST00000541609.1_Missense_Mutation_p.P92H NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 429 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTGGGGACCCCCAGGCTAAAA 0.547000 33 73 3.90053e-15 5.65752e-15 0.012213 1 0 TTYH2 94015 broad.mit.edu 37 17 72256330 72256330 + Silent SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr17:72256330G>A ENST00000441391.2 + 8 1836 c.624G>A c.(622-624)ggG>ggA p.G208G CTD-2514K5.4_ENST00000583018.1_RNA|TTYH2_ENST00000269346.4_Silent_p.G529G|TTYH2_ENST00000529107.1_Silent_p.G508G NM_052869.1 NP_443101.1 Q9BSA4 TTYH2_HUMAN tweety family member 2 529 chloride channel complex|plasma membrane chloride channel activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1) 36 GGCACTACGGGAATCAGTTTC 0.493000 48 173 0 0 0.014410 0 0 GPR114 221188 broad.mit.edu 37 16 57597789 57597789 + Missense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr16:57597789C>A ENST00000340339.4 + 5 850 c.327C>A c.(325-327)caC>caA p.H109Q GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.H109Q NM_153837.1 NP_722579.1 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 109 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1) 23 GGGGTCAGCACGCCATGCAGT 0.622000 10 36 0.000673444 0.000747755 0.008291 1 0 FAM129A 116496 broad.mit.edu 37 1 184764494 184764494 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:184764494C>T ENST00000367511.3 - 14 2597 c.2404G>A c.(2404-2406)Ggg>Agg p.G802R FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 802 Glu-rich. negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 TCGGTGAGCCCTCCACTGGCT 0.677000 11 203 0 0 0.010504 0 0 ABCA4 24 broad.mit.edu 37 1 94471034 94471034 + Missense_Mutation SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:94471034G>A ENST00000370225.3 - 44 6196 c.6110C>T c.(6109-6111)gCc>gTc p.A2037V ABCA4_ENST00000535881.1_Missense_Mutation_p.A156V|ABCA4_ENST00000536513.1_Missense_Mutation_p.A307V|ABCA4_ENST00000465352.1_5'UTR NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 2037 ABC transporter 2. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TCGAAGCCGGGCATAAAGGTA 0.418000 5 139 0 0 0.021553 0 0 FGA 2243 broad.mit.edu 37 4 155507348 155507348 + Silent SNP G G C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr4:155507348G>C ENST00000302053.3 - 5 1311 c.1233C>G c.(1231-1233)ggC>ggG p.G411G FGA_ENST00000403106.3_Silent_p.G411G NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 411 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CTTCAAATGTGCCCCAGTCTG 0.493000 54 276 0 0 0.014410 0 0 KCNH2 3757 broad.mit.edu 37 7 150648009 150648009 + Splice_Site SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr7:150648009C>A ENST00000392968.2 - 6 2977 c.1857_splice c.e6+1 p.A619_splice KCNH2_ENST00000330883.4_Splice_Site_p.A375_splice|KCNH2_ENST00000262186.5_Splice_Site_p.A715_splice|KCNH2_ENST00000430723.3_Splice_Site_p.A715_splice Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 715 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GTGGCCTCACCGCGTTCATGT 0.627000 6 29 1.58986e-06 1.88906e-06 0.008291 1 0 IGF2 3481 broad.mit.edu 37 11 2156601 2156601 + Nonsense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr11:2156601G>T ENST00000416167.2 - 2 1319 c.153C>A c.(151-153)taC>taA p.Y51* IGF2_ENST00000381392.1_Nonsense_Mutation_p.Y51*|IGF2_ENST00000381395.1_Nonsense_Mutation_p.Y51*|IGF2_ENST00000381389.1_Nonsense_Mutation_p.Y51*|IGF2_ENST00000418738.2_Nonsense_Mutation_p.Y51*|IGF2_ENST00000337883.6_Nonsense_Mutation_p.Y51*|IGF2_ENST00000434045.2_Nonsense_Mutation_p.Y107*|IGF2_ENST00000300632.5_Nonsense_Mutation_p.Y51*|IGF2_ENST00000381406.4_Nonsense_Mutation_p.Y51* P01344 IGF2_HUMAN insulin-like growth factor 2 (somatomedin A) 51 B. glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1) 6 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) ACTTACTGAAGTAGAAGCCGC 0.637000 2 1 0.00909568 0.00963424 0.009096 1 0 SIGMAR1 10280 broad.mit.edu 37 9 34635808 34635808 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr9:34635808C>T ENST00000378892.1 - 3 653 c.226G>A c.(226-228)Ggg>Agg p.G76R SIGMAR1_ENST00000277010.4_Missense_Mutation_p.G165R|SIGMAR1_ENST00000477726.1_Missense_Mutation_p.G134R|SIGMAR1_ENST00000461426.1_5'UTR Q99720 SGMR1_HUMAN sigma non-opioid intracellular receptor 1 165 ergosterol biosynthetic process|lipid transport cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane C-8 sterol isomerase activity|drug binding large_intestine(1)|lung(1) 2 Dextromethorphan(DB00514) GTGTTTGGCCCCCACTCCACA 0.637000 19 31 0 0 0.037714 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62648417 62648417 + Missense_Mutation SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr10:62648417G>A ENST00000337910.5 - 6 1346 c.1009C>T c.(1009-1011)Ccg>Tcg p.P337S RHOBTB1_ENST00000357917.4_Missense_Mutation_p.P337S NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 337 BTB 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) ATCCTAGGCGGGCCCTCCTCC 0.577000 48 185 0 0 0.014410 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54596841 54596841 + Missense_Mutation SNP A A C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr3:54596841A>C ENST00000474759.1 + 6 607 c.559A>C c.(559-561)Aat>Cat p.N187H CACNA2D3_ENST00000288197.5_Missense_Mutation_p.N187H|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.N187H|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.N93H NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 187 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TGCAATTGTCAATGGGGTTTA 0.413000 8 61 0 0 0.038147 0 0 DNAH3 55567 broad.mit.edu 37 16 20996463 20996463 + Missense_Mutation SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr16:20996463G>A ENST00000261383.3 - 48 7600 c.7601C>T c.(7600-7602)gCc>gTc p.A2534V DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2534 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity 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) TTGGGTCCTGGCTGCAGTCTG 0.478000 29 38 0 0 0.027356 0 0 TEKT1 83659 broad.mit.edu 37 17 6703405 6703405 + Missense_Mutation SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr17:6703405G>A ENST00000338694.2 - 8 1327 c.1198C>T c.(1198-1200)Cgg>Tgg p.R400W TEKT1_ENST00000535086.1_Missense_Mutation_p.R254W NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 400 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) TCCCCATCCCGAAGTGGGATG 0.512000 9 394 0 0 0.004482 0 0 ZNF318 24149 broad.mit.edu 37 6 43307716 43307716 + Silent SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr6:43307716C>T ENST00000361428.2 - 10 4097 c.4020G>A c.(4018-4020)gtG>gtA p.V1340V ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1340 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TGGAAGTTGTCACAACAGGCA 0.488000 7 248 0 0 0.029380 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178771087 178771087 + Missense_Mutation SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr5:178771087G>A ENST00000251582.7 - 2 316 c.215C>T c.(214-216)tCc>tTc p.S72F ADAMTS2_ENST00000274609.5_Missense_Mutation_p.S72F NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 72 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CACCACGTGGGACACCAAGCG 0.731000 5 8 0 0 0.038147 0 0 IARS2 55699 broad.mit.edu 37 1 220298648 220298648 + Silent SNP T T C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:220298648T>C ENST00000366922.1 + 13 1825 c.1494T>C c.(1492-1494)ccT>ccC p.P498P IARS2_ENST00000302637.5_Silent_p.P570P Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial 570 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) CTCTTCCCCCTGAACAACTTC 0.388000 4 158 0 0 0.014758 0 0 WHSC1 7468 broad.mit.edu 37 4 1955058 1955058 + Missense_Mutation SNP C C G TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr4:1955058C>G ENST00000382895.3 + 14 2576 c.2145C>G c.(2143-2145)caC>caG p.H715Q WHSC1_ENST00000508803.1_Missense_Mutation_p.H715Q|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.H63Q|WHSC1_ENST00000382891.5_Missense_Mutation_p.H715Q|WHSC1_ENST00000382892.2_Missense_Mutation_p.H715Q NM_133330.2 NP_579877.1 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 715 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) TAGGGATTCACTCATGTTTCG 0.403000 T IGH@ MM 27 150 0 0 0.024334 0 0 GPR32 2854 broad.mit.edu 37 19 51274220 51274220 + Silent SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr19:51274220G>T ENST00000270590.4 + 1 500 c.363G>T c.(361-363)gtG>gtT p.V121V NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 121 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) TCACCTTTGTGTTCCTCAGCT 0.532000 16 114 4.7546e-09 5.9804e-09 0.028581 1 0 APOA4 337 broad.mit.edu 37 11 116691952 116691952 + Silent SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr11:116691952C>A ENST00000357780.3 - 3 936 c.822G>T c.(820-822)gtG>gtT p.V274V NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;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) GGTTGCCACGCACGTCCTCGG 0.667000 19 25 1.96292e-10 2.61182e-10 0.010504 1 0 DCSTAMP 81501 broad.mit.edu 37 8 105361674 105361674 + Silent SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr8:105361674C>T ENST00000297581.2 + 2 943 c.894C>T c.(892-894)ctC>ctT p.L298L DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 298 osteoclast differentiation cell surface|integral to membrane|plasma membrane TGTTTTTCCTCCCCATACTTA 0.478000 16 816 0 0 0.038395 0 0 PACRGL 133015 broad.mit.edu 37 4 20706146 20706146 + Missense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr4:20706146C>A ENST00000360916.5 + 2 433 c.42C>A c.(40-42)aaC>aaA p.N14K PACRGL_ENST00000295290.8_Missense_Mutation_p.N14K|PACRGL_ENST00000502374.1_Missense_Mutation_p.N14K|PACRGL_ENST00000538990.1_Missense_Mutation_p.N14K|PACRGL_ENST00000513459.1_Missense_Mutation_p.N14K|PACRGL_ENST00000502938.1_Missense_Mutation_p.N14K|PACRGL_ENST00000444671.2_Missense_Mutation_p.N14K|PACRGL_ENST00000503585.1_Missense_Mutation_p.N14K|PACRGL_ENST00000507634.1_Missense_Mutation_p.N14K NM_145048.3 NP_659485.1 Q8N7B6 PACRL_HUMAN PARK2 co-regulated-like 14 binding endometrium(2)|lung(7)|prostate(1) 10 AGTTGAAAAACAGAGCAACAG 0.388000 4 146 0.014758 0.0155297 0.014758 1 0 PREB 10113 broad.mit.edu 37 2 27356508 27356508 + Missense_Mutation SNP T T C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr2:27356508T>C ENST00000260643.2 - 2 470 c.217A>G c.(217-219)Atg>Gtg p.M73V PREB_ENST00000406567.3_Missense_Mutation_p.M73V|PREB_ENST00000416802.1_Intron NM_013388.4 NP_037520.1 Q9HCU5 PREB_HUMAN prolactin regulatory element binding 73 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|nucleus DNA binding|guanyl-nucleotide exchange factor activity|protein binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCAAGTTCATGGTGGCCCGT 0.592000 OREG0014515 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 23 0 0 0.033300 0 0 KMT2C 58508 broad.mit.edu 37 7 151962184 151962184 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr7:151962184C>T ENST00000355193.2 - 8 1341 c.1123G>A c.(1123-1125)Gtt>Att p.V375I KMT2C_ENST00000262189.6_Missense_Mutation_p.V375I lysine (K)-specific methyltransferase 2C AATGGAGTAACCGCTATATCC 0.448000 28 1760 0 0 0.008291 0 0 ITIH5 80760 broad.mit.edu 37 10 7611659 7611659 + Silent SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr10:7611659G>T ENST00000256861.6 - 12 2199 c.2121C>A c.(2119-2121)ctC>ctA p.L707L ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Silent_p.L493L|ITIH5_ENST00000446830.2_Silent_p.L489L NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 707 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 AGACCAGCCTGAGGATGTCCC 0.562000 6 35 2.7689e-08 3.4692e-08 0.029380 1 0 MFAP3L 9848 broad.mit.edu 37 4 170913311 170913311 + Missense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr4:170913311C>A ENST00000361618.3 - 3 755 c.448G>T c.(448-450)Ggt>Tgt p.G150C RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.G47C NM_021647.6 NP_067679.6 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like 150 integral to membrane|plasma membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) TAGTAGACACCCATGTCTCCA 0.517000 63 134 1.84395e-34 2.96876e-34 0.014410 1 0 DBT 1629 broad.mit.edu 37 1 100672088 100672088 + Silent SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:100672088C>T ENST00000370132.3 - 9 1135 c.1122G>A c.(1120-1122)ctG>ctA p.L374L NM_001918.3 NP_001909.3 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase E2 374 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1) 19 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) GGAGGCGGTTCAGTTCAGTGG 0.428000 18 303 0 0 0.010504 0 0 DYRK1B 9149 broad.mit.edu 37 19 40316843 40316843 + Missense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr19:40316843C>A ENST00000593685.1 - 10 1963 c.1495G>T c.(1495-1497)Gac>Tac p.D499Y DYRK1B_ENST00000348817.3_Missense_Mutation_p.D471Y|DYRK1B_ENST00000323039.5_Missense_Mutation_p.D499Y|DYRK1B_ENST00000430012.2_Missense_Mutation_p.D459Y|DYRK1B_ENST00000597639.1_Missense_Mutation_p.D471Y Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 499 Interaction with RANBP9. positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) ATCTCACAGTCTGTGATAGGG 0.622000 16 122 4.96729e-08 6.08163e-08 0.008871 1 0 USP15 9958 broad.mit.edu 37 12 62795017 62795017 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr12:62795017G>T ENST00000280377.5 + 21 2783 c.2725G>T c.(2725-2727)Gac>Tac p.D909Y USP15_ENST00000393654.3_Missense_Mutation_p.D884Y|USP15_ENST00000353364.3_Missense_Mutation_p.D880Y NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 909 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) CTATTTTGATGACAGTAGTGT 0.328000 19 54 2.21704e-12 3.01217e-12 0.016522 1 0 DSG4 147409 broad.mit.edu 37 18 28980983 28980983 + Splice_Site SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr18:28980983G>A ENST00000359747.4 + 10 1446 c.1417_splice c.e10+1 p.D473_splice DSG4_ENST00000308128.4_Splice_Site_p.D473_splice|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 473 Cadherin 4. homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GGCTATAGATGGTAAGAAAAT 0.264000 22 42 0 0 0.018920 0 0 MRGPRF 116535 broad.mit.edu 37 11 68777385 68777385 + Translation_Start_Site SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr11:68777385G>A ENST00000309099.6 - 0 367 MRGPRF_ENST00000320913.6_De_novo_Start_OutOfFrame|MRGPRF_ENST00000441623.1_De_novo_Start_OutOfFrame NM_145015.4 NP_659452.3 Q96AM1 MRGRF_HUMAN MAS-related GPR, member F integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|lung(4) 7 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GGCCTGGCGCGTCTGGGCCCC 0.662000 12 44 0 0 0.010729 0 0 NUTM1 256646 broad.mit.edu 37 15 34640188 34640188 + Missense_Mutation SNP C C A rs138920290 by1000genomes TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr15:34640188C>A ENST00000537011.1 + 3 501 c.119C>A c.(118-120)cCg>cAg p.P40Q NUTM1_ENST00000333756.4_Missense_Mutation_p.P12Q|NUTM1_ENST00000438749.3_Missense_Mutation_p.P30Q NUT midline carcinoma, family member 1 TTGCCGGGACCGGATATGAGC 0.502000 34 68 5.43694e-19 8.25799e-19 0.023175 1 0 TGM4 7047 broad.mit.edu 37 3 44929222 44929222 + Missense_Mutation SNP G G C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr3:44929222G>C ENST00000296125.4 + 3 303 c.235G>C c.(235-237)Gac>Cac p.D79H NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 79 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) GGTGGTGCTCGACCCGAGGAC 0.607000 29 72 0 0 0.012213 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56736248 56736248 + Silent SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr19:56736248C>A ENST00000587340.1 - 4 863 c.168G>T c.(166-168)tcG>tcT p.S56S ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000391713.1_Silent_p.S56S|ZSCAN5A_ENST00000592355.1_Silent_p.S56S|ZSCAN5A_ENST00000254165.3_Intron Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 56 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 GGATGGGGTCCGACTCCTTCG 0.552000 5 41 0.00621372 0.00666939 0.006214 1 0 PCDHB5 26167 broad.mit.edu 37 5 140516399 140516399 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr5:140516399G>T ENST00000231134.5 + 1 1600 c.1383G>T c.(1381-1383)gaG>gaT p.E461D NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 461 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCGTCCGAGAGAACAACAGCC 0.617000 62 141 3.37205e-40 5.51168e-40 0.014410 1 0 RNF183 138065 broad.mit.edu 37 9 116060426 116060426 + Silent SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr9:116060426G>A ENST00000478815.1 - 1 1619 c.39C>T c.(37-39)tgC>tgT p.C13C RNF183_ENST00000297894.5_Silent_p.C13C|RNF183_ENST00000416588.2_Silent_p.C13C|RNF183_ENST00000441031.3_Silent_p.C13C Q96D59 RN183_HUMAN ring finger protein 183 13 integral to membrane zinc ion binding lung(1)|prostate(1)|skin(1) 3 AGCAGACGGGGCACTCAGCCT 0.612000 4 113 0 0 0.009096 0 0 KALRN 8997 broad.mit.edu 37 3 124397099 124397099 + Missense_Mutation SNP A A T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr3:124397099A>T ENST00000360013.3 + 50 7383 c.7256A>T c.(7255-7257)aAa>aTa p.K2419I KALRN_ENST00000428018.2_Missense_Mutation_p.K690I|KALRN_ENST00000291478.4_Missense_Mutation_p.K722I|KALRN_ENST00000462213.1_Missense_Mutation_p.K36I NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2418 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 AACACGGGTAAAAATGAAGCC 0.478000 50 93 0 0 0.014410 0 0 NEB 4703 broad.mit.edu 37 2 152539283 152539283 + Splice_Site SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr2:152539283C>A ENST00000397345.3 - 29 3038 c.2835_splice c.e29-1 p.V946_splice NEB_ENST00000409198.1_Splice_Site_p.V946_splice|NEB_ENST00000172853.10_Splice_Site_p.V946_splice|NEB_ENST00000603639.1_Splice_Site_p.V946_splice|NEB_ENST00000427231.2_Splice_Site_p.V946_splice|NEB_ENST00000604864.1_Splice_Site_p.V946_splice NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 946 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 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) TTGTATTCAACCTAAAACACC 0.388000 12 53 0.00136819 0.00149342 0.013537 1 0 NDUFS3 4722 broad.mit.edu 37 11 47603973 47603973 + Missense_Mutation SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr11:47603973G>A ENST00000263774.4 + 6 662 c.580G>A c.(580-582)Gag>Aag p.E194K NDUFS3_ENST00000533507.1_3'UTR NM_004551.2 NP_004542.1 O75489 NDUS3_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) 194 induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2) 9 NADH(DB00157) TTATGGCTTCGAGGGACATCC 0.502000 7 354 0 0 0.008291 0 0 TDO2 6999 broad.mit.edu 37 4 156828908 156828908 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr4:156828908G>T ENST00000536354.2 + 4 331 c.267G>T c.(265-267)gaG>gaT p.E89D NM_005651.3 NP_005642.1 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 89 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) TCCTCTGGGAGTTGGATTCTG 0.338000 24 214 3.96558e-24 6.29023e-24 0.024334 1 0 VKORC1 79001 broad.mit.edu 37 16 31106861 31106861 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr16:31106861C>T ENST00000498155.1 - 1 440 c.119G>A c.(118-120)gGa>gAa p.G40E Q9BQB6 VKOR1_HUMAN vitamin K epoxide reductase complex, subunit 1 0 peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane vitamin-K-epoxide reductase (warfarin-sensitive) activity lung(3)|urinary_tract(1) 4 Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682) CTCCCATCCTCCCGGGTCCTG 0.572000 15 30 0 0 0.043863 0 0 FAT1 2195 broad.mit.edu 37 4 187531125 187531125 + Nonsense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr4:187531125C>A ENST00000441802.2 - 15 10107 c.9898G>T c.(9898-9900)Gag>Tag p.E3300* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3300 Cadherin 30. 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 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 AGGTAATACTCATGAGAGCTC 0.438000 HNSCC(5;0.00058) 16 108 2.94398e-08 3.66009e-08 0.043863 1 0 PKD1L2 114780 broad.mit.edu 37 16 81222569 81222569 + Missense_Mutation SNP G G T rs28534622 TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr16:81222569G>T ENST00000599697.1 - 10 1705 c.1706C>A c.(1705-1707)cCt>cAt p.P569H PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 569 REJ. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 ATATGGACCAGGTTGGATGTA 0.498000 20 96 1.33834e-09 1.70334e-09 0.043863 1 0 AES 166 broad.mit.edu 37 19 3061240 3061240 + Missense_Mutation SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr19:3061240G>A ENST00000221561.8 - 2 423 c.244C>T c.(244-246)Ccc>Tcc p.P82S AES_ENST00000586839.1_5'UTR|AES_ENST00000327141.4_Missense_Mutation_p.P15S|AES_ENST00000592330.1_5'UTR NM_198969.1 NP_945320.1 Q08117 AES_HUMAN amino-terminal enhancer of split 15 Gln-rich (Q domain). negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity lung(8) 8 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) AGTTGCTGGGGTAGGTGCGAG 0.662000 6 52 0 0 0.038147 0 0 METRNL 284207 broad.mit.edu 37 17 81042956 81042956 + Missense_Mutation SNP A A T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr17:81042956A>T ENST00000571814.1 + 1 1008 c.67A>T c.(67-69)Acc>Tcc p.T23S METRNL_ENST00000570778.1_Missense_Mutation_p.T23S|METRNL_ENST00000320095.7_Missense_Mutation_p.T105S Q641Q3 METRL_HUMAN meteorin, glial cell differentiation regulator-like 105 extracellular region endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) CCGGCACCTGACCGTGTGCAT 0.597000 3 27 0 0 0.021553 0 0 DPP4 1803 broad.mit.edu 37 2 162902089 162902089 + Missense_Mutation SNP T T C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr2:162902089T>C ENST00000360534.3 - 5 879 c.319A>G c.(319-321)Ata>Gta p.I107V NM_001935.3 NP_001926.2 P27487 DPP4_HUMAN dipeptidyl-peptidase 4 107 cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity p.I107V(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) TCAGGAGATATTGAATAATCA 0.318000 85 269 0 0 0.014410 0 0 STK31 56164 broad.mit.edu 37 7 23826248 23826248 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr7:23826248G>T ENST00000354639.3 + 19 2791 c.2327G>T c.(2326-2328)tGt>tTt p.C776F STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.C776F|STK31_ENST00000433467.2_Missense_Mutation_p.C799F|STK31_ENST00000355870.3_Missense_Mutation_p.C799F NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 799 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CTGTTTTTATGTAAGGTAAAG 0.383000 30 125 8.88839e-20 1.36289e-19 0.045705 1 0 FAM83B 222584 broad.mit.edu 37 6 54805296 54805296 + Silent SNP G G T rs149380682 TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr6:54805296G>T ENST00000306858.7 + 5 1643 c.1527G>T c.(1525-1527)ccG>ccT p.P509P NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 509 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AAGCTACACCGGACTCAAATG 0.418000 50 204 5.13769e-22 8.06993e-22 0.014410 1 0 AHNAK2 113146 broad.mit.edu 37 14 105406157 105406157 + Nonsense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr14:105406157C>A ENST00000333244.5 - 7 15750 c.15631G>T c.(15631-15633)Gga>Tga p.G5211* AHNAK2_ENST00000557457.1_Nonsense_Mutation_p.G209* NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5211 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCCAGCTTTCCAGCCCCGCCT 0.562000 4 40 8.12818e-05 9.21576e-05 0.029380 1 0 IGLC7 28834 broad.mit.edu 37 22 23265034 23265034 + RNA SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr22:23265034G>T ENST00000390331.1 + 0 269 GCCGGGTCACGCATGAAGGGA 0.617000 7 31 1.06961e-07 1.28995e-07 0.038147 1 0 TEX15 56154 broad.mit.edu 37 8 30700236 30700236 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr8:30700236G>T ENST00000256246.2 - 1 6372 c.6298C>A c.(6298-6300)Cct>Act p.P2100T NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2100 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) ACCAGCTCAGGAAGAAGTGAC 0.368000 21 46 3.5997e-14 5.08379e-14 0.014323 1 0 CELSR3 1951 broad.mit.edu 37 3 48689361 48689361 + Missense_Mutation SNP G G C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr3:48689361G>C ENST00000544264.1 - 12 6152 c.5872C>G c.(5872-5874)Cac>Gac p.H1958D CELSR3_ENST00000164024.4_Missense_Mutation_p.H1958D Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1958 EGF-like 5; calcium-binding. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding 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) CAGTCTGCGTGAGGTGGGCAG 0.667000 13 22 0 0 0.013537 0 0 OR52R1 119695 broad.mit.edu 37 11 4824914 4824914 + Missense_Mutation SNP A A T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr11:4824914A>T ENST00000380382.1 - 1 933 c.934T>A c.(934-936)Tca>Aca p.S312T OR52R1_ENST00000356069.2_Missense_Mutation_p.S233T|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTTCACCTGAGGGCAACTGA 0.478000 33 56 0 0 0.012213 0 0 ADGRG1 9289 broad.mit.edu 37 16 57697431 57697431 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr16:57697431G>T ENST00000562631.1 + 14 2533 c.2001G>T c.(1999-2001)aaG>aaT p.K667N GPR56_ENST00000379696.3_Missense_Mutation_p.K673N|GPR56_ENST00000538815.1_Missense_Mutation_p.K667N|GPR56_ENST00000567835.1_Missense_Mutation_p.K673N|GPR56_ENST00000544297.1_Missense_Mutation_p.K492N|GPR56_ENST00000562558.1_Missense_Mutation_p.K667N|GPR56_ENST00000388812.4_Missense_Mutation_p.K673N|GPR56_ENST00000456916.1_Missense_Mutation_p.K673N|GPR56_ENST00000568909.1_Missense_Mutation_p.K673N|GPR56_ENST00000568908.1_Missense_Mutation_p.K667N|GPR56_ENST00000379694.4_Missense_Mutation_p.K503N|GPR56_ENST00000540164.2_Missense_Mutation_p.K667N|GPR56_ENST00000388813.5_Missense_Mutation_p.K667N Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 673 brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 15 CCCCTCTGAAGAGCAACTCAG 0.652000 8 65 0.000157383 0.000176576 0.038147 1 0 KIAA1429 25962 broad.mit.edu 37 8 95543256 95543256 + Missense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr8:95543256C>A ENST00000297591.5 - 6 617 c.542G>T c.(541-543)gGa>gTa p.G181V KIAA1429_ENST00000421249.2_Missense_Mutation_p.G181V|KIAA1429_ENST00000437199.1_Missense_Mutation_p.G181V NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 181 Pro-rich. mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) AGTTCTTGGTCCCCTTGGCTG 0.468000 45 93 3.39706e-21 5.30996e-21 0.014410 1 0 FAM19A2 338811 broad.mit.edu 37 12 62104158 62104158 + Silent SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr12:62104158G>A ENST00000551449.1 - 3 325 c.147C>T c.(145-147)ggC>ggT p.G49G FAM19A2_ENST00000550003.1_3'UTR|FAM19A2_ENST00000416284.3_3'UTR|FAM19A2_ENST00000551619.1_3'UTR Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 0 cytoplasm endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 15 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) AATGTCATCAGCCTTGAGGAT 0.368000 43 302 0 0 0.045515 0 0 ZNF333 84449 broad.mit.edu 37 19 14829929 14829929 + Missense_Mutation SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr19:14829929G>A ENST00000292530.6 + 12 1881 c.1790G>A c.(1789-1791)cGa>cAa p.R597Q ZNF333_ENST00000536363.1_Missense_Mutation_p.R488Q|ZNF333_ENST00000540689.2_Intron NM_032433.2 NP_115809.1 Q96JL9 ZN333_HUMAN zinc finger protein 333 597 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1) 21 GAATGCGGGCGAGCCTTTGGT 0.527000 5 352 0 0 0.014758 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212996 26212996 + Silent SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chrX:26212996C>A ENST00000379034.1 + 2 1182 c.1033C>A c.(1033-1035)Cgg>Agg p.R345R NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 345 MAGE. p.R345W(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 CGTGGTTTACCGGCAGGTGTG 0.498000 44 136 5.22555e-25 8.32984e-25 0.014410 1 0 DEPDC1 55635 broad.mit.edu 37 1 68947177 68947177 + Missense_Mutation SNP C C G TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:68947177C>G ENST00000456315.2 - 9 1995 c.1881G>C c.(1879-1881)atG>atC p.M627I RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Missense_Mutation_p.M343I NM_001114120.1 NP_001107592.1 Q5TB30 DEP1A_HUMAN DEP domain containing 1 627 Interaction with ZNF224. intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) CATTTTGACTCATTCGGGAAA 0.383000 11 87 0 0 0.010729 0 0 SFI1 9814 broad.mit.edu 37 22 31979927 31979927 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr22:31979927C>T ENST00000432498.1 + 12 1615 c.1222C>T c.(1222-1224)Ccc>Tcc p.P408S SFI1_ENST00000540643.1_Missense_Mutation_p.P384S|SFI1_ENST00000443326.1_Missense_Mutation_p.P357S|SFI1_ENST00000443011.1_Missense_Mutation_p.P286S|SFI1_ENST00000414585.1_Missense_Mutation_p.P286S|SFI1_ENST00000400288.2_Missense_Mutation_p.P439S|SFI1_ENST00000400289.1_Missense_Mutation_p.P357S NM_014775.3 NP_055590.2 A8K8P3 SFI1_HUMAN Sfi1 homolog, spindle assembly associated (yeast) 439 G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 AGAGCTGCTCCCCTTACTGCA 0.512000 61 232 0 0 0.014410 0 0 BAGE2 85319 broad.mit.edu 37 21 11049511 11049511 + RNA SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr21:11049511C>T ENST00000470054.1 - 0 597 B melanoma antigen family, member 2 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) AATGGAGTAACCGCTGTATCC 0.453000 18 444 0 0 0.008871 0 0 APOB 338 broad.mit.edu 37 2 21263872 21263872 + Silent SNP A A C rs150182638 TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr2:21263872A>C ENST00000233242.1 - 4 448 c.321T>G c.(319-321)ccT>ccG p.P107P APOB_ENST00000399256.4_Silent_p.P107P NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 107 Heparin-binding.|Vitellogenin. 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 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) CTTTGCCCTCAGGGTTGAAGC 0.517000 5 33 0 0 0.014758 0 0 IGF2BP3 10643 broad.mit.edu 37 7 23385654 23385654 + Missense_Mutation SNP T T A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr7:23385654T>A ENST00000258729.3 - 8 1202 c.846A>T c.(844-846)ttA>ttT p.L282F NM_006547.2 NP_006538.2 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding protein 3 282 KH 2. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1) 34 TATTATGAGCTAAAATCTTCA 0.338000 49 174 0 0 0.014410 0 0 CFH 3075 broad.mit.edu 37 1 196709747 196709747 + Splice_Site SNP A A T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:196709747A>T ENST00000367429.4 + 18 3022 c.e18-1 NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TTTTTTTTTTAGGCCTTCCTT 0.303000 7 209 0 0 0.013537 0 0 BZW2 28969 broad.mit.edu 37 7 16737692 16737692 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr7:16737692C>T ENST00000433922.2 + 10 1167 c.989C>T c.(988-990)gCc>gTc p.A330V BZW2_ENST00000405202.1_Missense_Mutation_p.A254V|BZW2_ENST00000407633.1_Missense_Mutation_p.A136V|BZW2_ENST00000452975.2_3'UTR|BZW2_ENST00000258761.3_Missense_Mutation_p.A330V|AC073333.8_ENST00000418907.1_RNA NM_001159767.1 NP_001153239.1 Q9Y6E2 BZW2_HUMAN basic leucine zipper and W2 domains 2 330 W2. cell differentiation|nervous system development|RNA metabolic process protein binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(10;0.0367)|all_lung(11;0.0837) UCEC - Uterine corpus endometrioid carcinoma (126;0.199) CCCCTGCTGGCCGTGTTCAGC 0.498000 5 172 0 0 0.014758 0 0 C5orf42 65250 broad.mit.edu 37 5 37183248 37183248 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr5:37183248C>T ENST00000274258.7 - 26 5265 c.1678G>A c.(1678-1680)Ggt>Agt p.G560S C5orf42_ENST00000425232.2_Missense_Mutation_p.G1679S|C5orf42_ENST00000508244.1_Missense_Mutation_p.G1679S E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1679 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) TGTTTTAAACCAAATAATCCA 0.333000 21 77 0 0 0.008871 0 0 IL1RN 3557 broad.mit.edu 37 2 113890416 113890416 + Missense_Mutation SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr2:113890416G>A ENST00000361779.3 + 6 745 c.400G>A c.(400-402)Gtc>Atc p.V134I IL1RN_ENST00000354115.2_Missense_Mutation_p.V150I|IL1RN_ENST00000259206.5_Missense_Mutation_p.V171I|IL1RN_ENST00000409930.3_Missense_Mutation_p.V168I|IL1RN_ENST00000409052.1_Missense_Mutation_p.V134I NM_173843.2 NP_776215.1 P18510 IL1RA_HUMAN interleukin 1 receptor antagonist 168 immune response|inflammatory response|response to glucocorticoid stimulus centrosome|extracellular space|nucleus|plasma membrane cytokine activity|interleukin-1 receptor antagonist activity breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 10 Anakinra(DB00026) AGGCGTCATGGTCACCAAATT 0.592000 Lichen Sclerosis et Atrophicus, Familial Clustering of 54 140 0 0 0.014410 0 0 GFI1B 8328 broad.mit.edu 37 9 135863743 135863743 + Missense_Mutation SNP A A T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr9:135863743A>T ENST00000339463.3 + 8 1217 c.398A>T c.(397-399)cAc>cTc p.H133L GFI1B_ENST00000372122.1_Missense_Mutation_p.H133L|GFI1B_ENST00000450530.1_Missense_Mutation_p.H133L|GFI1B_ENST00000534944.1_Missense_Mutation_p.H133L|GFI1B_ENST00000372124.1_Missense_Mutation_p.H133L|GFI1B_ENST00000372123.1_Missense_Mutation_p.H133L Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription repressor 133 Interaction with ARIH2. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) TTCCTGGAGCACTCCGTCAGC 0.617000 20 25 0 0 0.030593 0 0 KCNB1 3745 broad.mit.edu 37 20 47991418 47991418 + Missense_Mutation SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr20:47991418G>A ENST00000371741.4 - 2 845 c.679C>T c.(679-681)Ccc>Tcc p.P227S NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 227 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GCCAGCTGGGGGTTGTCTGTG 0.572000 20 55 0 0 0.012319 0 0 RIMS2 9699 broad.mit.edu 37 8 104897887 104897887 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr8:104897887C>T ENST00000507740.1 + 2 720 c.484C>T c.(484-486)Cgg>Tgg p.R162W RIMS2_ENST00000262231.10_Missense_Mutation_p.R162W|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000436393.2_Missense_Mutation_p.R132W|RIMS2_ENST00000406091.3_Missense_Mutation_p.R354W NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 385 RabBD. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AGAACAAATGCGGATCCATGC 0.478000 HNSCC(12;0.0054) 5 113 0 0 0.021553 0 0 TCOF1 6949 broad.mit.edu 37 5 149755685 149755685 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr5:149755685C>T ENST00000451292.1 + 13 2042 c.1934C>T c.(1933-1935)cCa>cTa p.P645L TCOF1_ENST00000439160.2_Missense_Mutation_p.P645L|TCOF1_ENST00000377797.3_Missense_Mutation_p.P645L|TCOF1_ENST00000445265.2_Missense_Mutation_p.P568L|TCOF1_ENST00000513346.1_Missense_Mutation_p.P645L|TCOF1_ENST00000323668.7_Missense_Mutation_p.P568L|TCOF1_ENST00000504761.2_Missense_Mutation_p.P645L|TCOF1_ENST00000394269.3_Missense_Mutation_p.P645L Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 645 skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGGCCTGCCCAAAGAAAACC 0.562000 6 317 0 0 0.029380 0 0 MYO7B 4648 broad.mit.edu 37 2 128331592 128331592 + Silent SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr2:128331592G>A ENST00000389524.4 + 7 743 c.690G>A c.(688-690)gcG>gcA p.A230A MYO7B_ENST00000428314.1_Silent_p.A230A|MYO7B_ENST00000409816.2_Silent_p.A230A Q6PIF6 MYO7B_HUMAN myosin VIIB 230 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity 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) TCGAGGGCGCGCGCATCGAGC 0.582000 16 153 0 0 0.043863 0 0 IGLJ7 28827 broad.mit.edu 37 22 23263607 23263607 + RNA SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr22:23263607G>A ENST00000390330.2 + 0 46 GACCGCCCTCGGTAAGTCTCC 0.582000 4 33 0 0 0.009096 0 0 CKMT1A 548596 broad.mit.edu 37 15 43990846 43990846 + Missense_Mutation SNP G G A rs142460452 TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr15:43990846G>A ENST00000413453.2 + 8 1543 c.1019G>A c.(1018-1020)cGc>cAc p.R340H CKMT1A_ENST00000434505.1_Missense_Mutation_p.R340H|STRC_ENST00000541030.1_Intron P12532 KCRU_HUMAN creatine kinase, mitochondrial 1A 340 Phosphagen kinase C-terminal. creatine metabolic process mitochondrial inner membrane ATP binding|creatine kinase activity lung(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) Creatine(DB00148) TAGGATAGCCGCTTCCCAAAG 0.517000 46 69 0 0 0.014410 0 0 BTK 695 broad.mit.edu 37 X 100617575 100617575 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chrX:100617575C>T ENST00000308731.7 - 6 657 c.494G>A c.(493-495)tGc>tAc p.C165Y BTK_ENST00000372880.1_Missense_Mutation_p.C165Y NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 165 calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CAAAATTTGGCAGCCCATAGC 0.453000 Agammaglobulinemia, X-linked 6 286 0 0 0.021553 0 0 PPEF2 5470 broad.mit.edu 37 4 76808028 76808028 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr4:76808028C>T ENST00000286719.7 - 7 912 c.556G>A c.(556-558)Gac>Aac p.D186N NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 186 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) AAGATTAAGTCATCCAATTGG 0.284000 8 77 0 0 0.006214 0 0 CDV3 55573 broad.mit.edu 37 3 133302942 133302942 + Silent SNP A A G TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr3:133302942A>G ENST00000420115.2 + 3 310 c.108A>G c.(106-108)tcA>tcG p.S36S CDV3_ENST00000264993.3_Silent_p.S138S|CDV3_ENST00000431519.2_Silent_p.S138S|CDV3_ENST00000515421.1_Silent_p.S36S|CDV3_ENST00000511392.1_Silent_p.S36S|CDV3_ENST00000508481.1_Silent_p.S36S NM_001134423.1 NP_001127895.1 Q9UKY7 CDV3_HUMAN CDV3 homolog (mouse) 138 Ala-rich. cell proliferation cytoplasm kidney(3)|lung(1)|prostate(1) 5 AAAAATCTTCAGGTCCCTGGA 0.403000 4 153 0 0 0.014758 0 0 KALRN 8997 broad.mit.edu 37 3 123987728 123987728 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr3:123987728G>T ENST00000360013.3 + 5 716 c.589G>T c.(589-591)Gcc>Tcc p.A197S KALRN_ENST00000460856.1_Missense_Mutation_p.A197S|KALRN_ENST00000240874.3_Missense_Mutation_p.A197S NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 197 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CTTCAACAGCGCCGTGCACCT 0.612000 12 24 3.27435e-08 4.0242e-08 0.020292 1 0 GLRA2 2742 broad.mit.edu 37 X 14748434 14748434 + Missense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chrX:14748434C>A ENST00000218075.4 + 9 1716 c.1186C>A c.(1186-1188)Cca>Aca p.P396T GLRA2_ENST00000355020.4_Missense_Mutation_p.P396T|GLRA2_ENST00000443437.2_Missense_Mutation_p.P307T NM_002063.3 NP_002054.1 P23416 GLRA2_HUMAN glycine receptor, alpha 2 396 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) ACCTGCCAACCCACTCCCACA 0.493000 53 172 2.36429e-26 3.78757e-26 0.014410 1 0 GALNTL6 442117 broad.mit.edu 37 4 173150846 173150846 + Missense_Mutation SNP T T A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr4:173150846T>A ENST00000506823.1 + 3 835 c.178T>A c.(178-180)Tgg>Agg p.W60R GALNTL6_ENST00000508122.1_Missense_Mutation_p.W43R NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 60 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 ATTCTATTCATGGACAGATGG 0.433000 7 83 0 0 0.038147 0 0 PXDNL 137902 broad.mit.edu 37 8 52387683 52387683 + Silent SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr8:52387683G>A ENST00000356297.4 - 7 643 c.543C>T c.(541-543)gcC>gcT p.A181A PXDNL_ENST00000543296.1_Silent_p.A181A NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 181 LRRCT. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity 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) CACAAACCAGGGCGTTGGAAT 0.473000 10 40 0 0 0.033300 0 0 KCNH5 27133 broad.mit.edu 37 14 63417001 63417001 + Missense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr14:63417001C>A ENST00000322893.7 - 7 1487 c.1219G>T c.(1219-1221)Ggg>Tgg p.G407W KCNH5_ENST00000420622.2_Missense_Mutation_p.G407W|KCNH5_ENST00000394968.1_Missense_Mutation_p.G349W|KCNH5_ENST00000394964.2_Missense_Mutation_p.G349W NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 407 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TCCCATATCCCAGCACTGGTA 0.468000 85 207 1.01459e-35 1.64171e-35 0.014410 1 0 FAM35A 54537 broad.mit.edu 37 10 88939887 88939887 + Silent SNP T T C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr10:88939887T>C ENST00000298786.4 + 8 2340 c.2226T>C c.(2224-2226)tcT>tcC p.S742S FAM35A_ENST00000298784.1_Silent_p.S673S Q86V20 FA35A_HUMAN family with sequence similarity 35, member A 673 endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2) 16 TTACAGCATCTCAGAAGATAG 0.368000 10 276 0 0 0.020292 0 0 CECR2 27443 broad.mit.edu 37 22 18022493 18022493 + Silent SNP G G C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr22:18022493G>C ENST00000262608.8 + 15 2598 c.2598G>C c.(2596-2598)gcG>gcC p.A866A CECR2_ENST00000400585.2_Silent_p.A724A|CECR2_ENST00000400573.4_Silent_p.A865A NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 907 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) AGATGATTGCGATGCAGCAGC 0.637000 9 73 0 0 0.008291 0 0 DCUN1D5 84259 broad.mit.edu 37 11 102937253 102937253 + Missense_Mutation SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr11:102937253G>A ENST00000260247.5 - 5 727 c.385C>T c.(385-387)Cgc>Tgc p.R129C DCUN1D5_ENST00000531543.1_Missense_Mutation_p.R44C NM_032299.3 NP_115675.1 Q9BTE7 DCNL5_HUMAN DCN1, defective in cullin neddylation 1, domain containing 5 129 DCUN1. NS(1)|central_nervous_system(1)|endometrium(2) 4 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186) AACTGTGAGCGCAAAAAGTCA 0.279000 4 89 0 0 0.009096 0 0 MPEG1 219972 broad.mit.edu 37 11 58979598 58979598 + Silent SNP G G C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr11:58979598G>C ENST00000361050.3 - 1 826 c.741C>G c.(739-741)acC>acG p.T247T NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 247 MACPF. integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) TGAAGTTCACGGTGTTTTGAA 0.532000 15 47 0 0 0.024245 0 0 ACKR3 57007 broad.mit.edu 37 2 237490163 237490163 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr2:237490163C>T ENST00000272928.3 + 2 1365 c.1055C>T c.(1054-1056)aCg>aTg p.T352M NM_020311.2 NP_064707.1 atypical chemokine receptor 3 p.T352M(1) GTCTCAGAGACGGAGTACTCT 0.522000 9 90 0 0 0.008291 0 0 PSG8 440533 broad.mit.edu 37 19 43258601 43258601 + Missense_Mutation SNP C C G rs141151331 TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr19:43258601C>G ENST00000404209.4 - 5 1223 c.1127G>C c.(1126-1128)gGa>gCa p.G376A PSG8_ENST00000401467.2_Missense_Mutation_p.G283A|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Missense_Mutation_p.G254A|PSG8_ENST00000306511.4_Missense_Mutation_p.G376A NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 376 Ig-like C2-type 3. extracellular region 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) GAGCTTTTGTCCTGATAGCTG 0.463000 5 538 0 0 0.010729 0 0 FAM107A 11170 broad.mit.edu 37 3 58555535 58555535 + Missense_Mutation SNP C C T rs11539089 TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr3:58555535C>T ENST00000394481.1 - 3 611 c.53G>A c.(52-54)cGg>cAg p.R18Q FAM107A_ENST00000360997.2_Missense_Mutation_p.R18Q|FAM107A_ENST00000447756.2_Missense_Mutation_p.R46Q|FAM107A_ENST00000474531.1_Missense_Mutation_p.R49Q|FAM107A_ENST00000464064.1_Missense_Mutation_p.R18Q NM_007177.2 NP_009108.1 O95990 F107A_HUMAN family with sequence similarity 107, member A 18 regulation of cell growth nucleus protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154) GTATTCTGGCCGGGCCATCAG 0.602000 8 67 0 0 0.013537 0 0 ZNF100 163227 broad.mit.edu 37 19 21910505 21910505 + Silent SNP T T C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr19:21910505T>C ENST00000358296.6 - 5 807 c.609A>G c.(607-609)aaA>aaG p.K203K ZNF100_ENST00000305570.6_Silent_p.K139K NM_173531.3 NP_775802.2 Q8IYN0 ZN100_HUMAN zinc finger protein 100 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 21 ATTTGAAAGGTTTCTTTCTAG 0.294000 6 132 0 0 0.021553 0 0 NKRF 55922 broad.mit.edu 37 X 118723933 118723933 + Missense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chrX:118723933C>A ENST00000371527.1 - 2 2107 c.1455G>T c.(1453-1455)gaG>gaT p.E485D NKRF_ENST00000304449.5_Missense_Mutation_p.E485D|NKRF_ENST00000542113.1_Missense_Mutation_p.E500D|NKRF_ENST00000487600.1_Intron NM_001173488.1 NP_001166959.1 O15226 NKRF_HUMAN NFKB repressing factor 485 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding p.E485D(1) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 30 TTACTTCACTCTCTAGAATCA 0.458000 5 182 0.00116845 0.00127973 0.021553 1 0 SCN5A 6331 broad.mit.edu 37 3 38595865 38595865 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr3:38595865C>T ENST00000413689.1 - 27 4911 c.4718G>A c.(4717-4719)gGc>gAc p.G1573D SCN5A_ENST00000414099.2_Missense_Mutation_p.G1555D|SCN5A_ENST00000449557.2_Missense_Mutation_p.G1519D|SCN5A_ENST00000450102.2_Missense_Mutation_p.G1519D|SCN5A_ENST00000455624.2_Splice_Site|SCN5A_ENST00000451551.2_Missense_Mutation_p.G1519D|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000423572.2_Missense_Mutation_p.G1572D|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1555D|SCN5A_ENST00000443581.1_Missense_Mutation_p.G1572D|SCN5A_ENST00000333535.4_Missense_Mutation_p.G1573D NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1573 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) AATACACTCGCCTGTGAAGAT 0.498000 65 136 0 0 0.014410 0 0 EIF4E2 9470 broad.mit.edu 37 2 233421190 233421190 + Nonsense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr2:233421190G>T ENST00000409514.1 + 2 127 c.85G>T c.(85-87)Gag>Tag p.E29* EIF4E2_ENST00000409167.3_Nonsense_Mutation_p.E29*|EIF4E2_ENST00000258416.3_Nonsense_Mutation_p.E29*|EIF4E2_ENST00000409495.1_Nonsense_Mutation_p.E29*|EIF4E2_ENST00000409322.1_Nonsense_Mutation_p.E29*|EIF4E2_ENST00000409394.1_Nonsense_Mutation_p.E29*|EIF4E2_ENST00000409098.1_Nonsense_Mutation_p.E29*|EIF4E2_ENST00000479834.1_3'UTR O60573 IF4E2_HUMAN eukaryotic translation initiation factor 4E family member 2 29 regulation of translation cytoplasm|mRNA cap binding complex RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GAAAGATGGTGAGAAGGAAAA 0.418000 11 30 9.70103e-10 1.25451e-09 0.008291 1 0 CLCN4 1183 broad.mit.edu 37 X 10181882 10181882 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chrX:10181882G>T ENST00000380833.4 + 11 2129 c.1738G>T c.(1738-1740)Ggg>Tgg p.G580W CLCN4_ENST00000421085.2_Missense_Mutation_p.G486W|CLCN4_ENST00000380829.1_Missense_Mutation_p.G549W NM_001256944.1|NM_001830.3 NP_001243873.1|NP_001821.2 P51793 CLCN4_HUMAN chloride channel, voltage-sensitive 4 580 early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CCACTTAAATGGGTACCCTTT 0.602000 14 95 3.27435e-08 4.0242e-08 0.020292 1 0 FBXL7 23194 broad.mit.edu 37 5 15937114 15937114 + Missense_Mutation SNP G G C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr5:15937114G>C ENST00000504595.1 + 4 1776 c.1295G>C c.(1294-1296)cGg>cCg p.R432P FBXL7_ENST00000510662.1_Missense_Mutation_p.R385P|FBXL7_ENST00000329673.7_Missense_Mutation_p.R420P NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 432 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 AACCTCAAGCGGCTCAGCCTC 0.582000 8 66 0 0 0.008291 0 0 IGF2BP3 10643 broad.mit.edu 37 7 23383342 23383342 + Missense_Mutation SNP T T G TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr7:23383342T>G ENST00000258729.3 - 9 1428 c.1072A>C c.(1072-1074)Atg>Ctg p.M358L NM_006547.2 NP_006538.2 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding protein 3 358 anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1) 34 CTAACATTCATAGAAGCAATA 0.318000 51 161 0 0 0.014410 0 0 TM6SF2 53345 broad.mit.edu 37 19 19381871 19381871 + Silent SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr19:19381871G>A ENST00000389363.4 - 2 231 c.159C>T c.(157-159)agC>agT p.S53S AC138430.4_ENST00000586064.2_RNA|TM6SF2_ENST00000586107.1_Intron NM_001001524.2 NP_001001524.2 Q9BZW4 TM6S2_HUMAN transmembrane 6 superfamily member 2 53 integral to membrane breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Epithelial(12;0.0151) CATGGGACAAGCTGTAGACCG 0.607000 29 56 0 0 0.019004 0 0 NEK10 152110 broad.mit.edu 37 3 27243949 27243949 + Silent SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr3:27243949G>A ENST00000429845.2 - 25 2552 c.2190C>T c.(2188-2190)taC>taT p.Y730Y NEK10_ENST00000383770.3_Silent_p.Y42Y|NEK10_ENST00000357467.2_Silent_p.Y127Y|NEK10_ENST00000383771.4_Silent_p.Y42Y|NEK10_ENST00000295720.6_Silent_p.Y42Y Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 730 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TGTTAGTGCTGTAGAAGGGGG 0.483000 5 158 0 0 0.021553 0 0 DCDC2B 149069 broad.mit.edu 37 1 32677383 32677383 + Missense_Mutation SNP T T G TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:32677383T>G ENST00000409358.1 + 3 340 c.340T>G c.(340-342)Ttg>Gtg p.L114V NM_001099434.1 NP_001092904.1 A2VCK2 DCD2B_HUMAN doublecortin domain containing 2B 114 intracellular signal transduction breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) GACTCGCCACTTGTGTGATGG 0.577000 4 12 0 0 0.009096 0 0 ITIH2 3698 broad.mit.edu 37 10 7755153 7755153 + Missense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr10:7755153C>A ENST00000358415.4 + 5 538 c.372C>A c.(370-372)gaC>gaA p.D124E ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.D113E NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 124 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.D124D(1) NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GGACTGTGGACGGCAAGACAT 0.473000 4 62 0.00909568 0.00963424 0.009096 1 0 SNX29 92017 broad.mit.edu 37 16 12662399 12662399 + Silent SNP G G C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr16:12662399G>C ENST00000566228.1 + 21 2424 c.2355G>C c.(2353-2355)cgG>cgC p.R785R SNX29_ENST00000306030.3_Silent_p.R400R|CTD-3037G24.3_ENST00000564505.1_RNA NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 400 cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 TGAACAGCCGGCCCAAAGCAG 0.622000 8 41 0 0 0.004482 0 0 ANKFY1 51479 broad.mit.edu 37 17 4120342 4120342 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr17:4120342C>T ENST00000341657.4 - 4 429 c.394G>A c.(394-396)Gat>Aat p.D132N ANKFY1_ENST00000574367.1_Missense_Mutation_p.D132N|ANKFY1_ENST00000570535.1_Missense_Mutation_p.D174N|ANKFY1_ENST00000433651.1_Missense_Mutation_p.D132N NM_016376.3 NP_057460.3 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 132 endosome membrane metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 AGGAACACATCATCCTCTCTG 0.448000 5 52 0 0 0.014758 0 0 VGLL3 389136 broad.mit.edu 37 3 87017782 87017782 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr3:87017782G>T ENST00000398399.2 - 3 1258 c.895C>A c.(895-897)Cat>Aat p.H299N VGLL3_ENST00000383698.3_Missense_Mutation_p.H299N NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) ACTGTTCCATGAAAGGCTCCA 0.473000 25 87 3.73988e-18 5.6273e-18 0.030593 1 0 APBA2 321 broad.mit.edu 37 15 29390776 29390776 + Silent SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr15:29390776G>A ENST00000558402.1 + 10 1934 c.1335G>A c.(1333-1335)acG>acA p.T445T APBA2_ENST00000558259.1_Silent_p.T445T|APBA2_ENST00000558330.1_Silent_p.T433T|APBA2_ENST00000411764.1_Silent_p.T433T|APBA2_ENST00000561069.1_Silent_p.T445T Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 445 PID. nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) ATGCAGACACGCAGGTAAGCG 0.483000 5 20 0 0 0.014758 0 0 DOCK8 81704 broad.mit.edu 37 9 432259 432259 + Silent SNP T T C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr9:432259T>C ENST00000432829.2 + 37 4832 c.4516T>C c.(4516-4518)Ttg>Ctg p.L1506L DOCK8_ENST00000382329.1_Silent_p.L1041L|DOCK8_ENST00000453981.1_Silent_p.L1574L|DOCK8_ENST00000469391.1_Silent_p.L1474L NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1574 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GAGAAGATCCTTGAGGACAAT 0.468000 13 46 0 0 0.016723 0 0 NBEAP1 606 broad.mit.edu 37 15 20874864 20874864 + RNA SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr15:20874864G>T ENST00000556948.1 - 0 384 ATTTTAAGGTGTGCATTATCT 0.343000 5 43 0.00116845 0.00127973 0.021553 1 0 ING5 84289 broad.mit.edu 37 2 242651391 242651391 + Splice_Site SNP A A T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr2:242651391A>T ENST00000313552.6 + 5 414 c.e5-1 ING5_ENST00000482774.1_Splice_Site|ING5_ENST00000406941.1_Splice_Site NM_032329.4 NP_115705.2 Q8WYH8 ING5_HUMAN inhibitor of growth family, member 5 DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding large_intestine(1)|lung(1)|skin(1) 3 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) ATTATTTTTCAGAAGGCCGGG 0.438000 13 13 0 0 0.024245 0 0 METTL21A 151194 broad.mit.edu 37 2 208489080 208489080 + Missense_Mutation SNP T T G TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr2:208489080T>G ENST00000411432.1 - 2 236 c.20A>C c.(19-21)gAg>gCg p.E7A METTL21A_ENST00000448007.2_Missense_Mutation_p.E7A|METTL21A_ENST00000425132.1_Missense_Mutation_p.E7A|METTL21A_ENST00000272839.3_Missense_Mutation_p.E7A|METTL21A_ENST00000432416.1_Missense_Mutation_p.E7A|METTL21A_ENST00000448823.2_Missense_Mutation_p.E7A|METTL21A_ENST00000442521.1_Missense_Mutation_p.E7A|METTL21A_ENST00000406927.2_Missense_Mutation_p.E7A|METTL21A_ENST00000426075.1_Missense_Mutation_p.E7A|METTL21A_ENST00000458426.1_Missense_Mutation_p.E7A NM_001127395.1 NP_001120867.1 Q8WXB1 MT21A_HUMAN methyltransferase like 21A 7 integral to membrane methyltransferase activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1) 10 CGTGGTCTCCTCATAGGGCAC 0.542000 26 85 0 0 0.024334 0 0 FERD3L 222894 broad.mit.edu 37 7 19185001 19185001 + Translation_Start_Site SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr7:19185001C>A ENST00000275461.3 - 0 43 AC003986.5_ENST00000452700.1_RNA NM_152898.2 NP_690862.1 Q96RJ6 FER3L_HUMAN Fer3-like bHLH transcription factor negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 35 CGGCTTGGCCCTGCCTCTCAT 0.632000 15 38 2.94398e-08 3.66009e-08 0.043863 1 0 DHX38 9785 broad.mit.edu 37 16 72137651 72137651 + Missense_Mutation SNP A A T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr16:72137651A>T ENST00000268482.3 + 13 2297 c.1788A>T c.(1786-1788)agA>agT p.R596S DHX38_ENST00000536867.1_Intron NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 596 Helicase ATP-binding. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) TGGCCAAGAGAGTCAGTGAAG 0.552000 5 26 0 0 0.004482 0 0 TLR7 51284 broad.mit.edu 37 X 12904932 12904932 + Silent SNP T T A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chrX:12904932T>A ENST00000380659.3 + 3 1444 c.1305T>A c.(1303-1305)ccT>ccA p.P435P NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 435 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) AAATATCACCTTCAGGAGATT 0.343000 33 293 0 0 0.013726 0 0 MAP7D2 256714 broad.mit.edu 37 X 20082923 20082923 + Splice_Site SNP C C G TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chrX:20082923C>G ENST00000379651.3 - 2 149 c.130_splice c.e2-1 p.G44_splice MAP7D2_ENST00000379643.5_Splice_Site_p.G44_splice|MAP7D2_ENST00000452324.3_5'UTR|MAP7D2_ENST00000443379.3_Splice_Site_p.G44_splice NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 44 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 TCCCTCCATGCCTACAAAGGA 0.428000 52 283 0 0 0.014410 0 0 DFNB31 25861 broad.mit.edu 37 9 117240830 117240830 + Silent SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr9:117240830C>T ENST00000374057.3 - 2 1488 c.840G>A c.(838-840)gtG>gtA p.V280V DFNB31_ENST00000362057.3_Intron|DFNB31_ENST00000265134.6_Intron Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 280 PDZ 2. inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CCACCCCACTCACCTTTTTCT 0.642000 4 48 0 0 0.009096 0 0 NOM1 64434 broad.mit.edu 37 7 156756633 156756633 + Missense_Mutation SNP A A G rs114916388 byFrequency TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr7:156756633A>G ENST00000275820.3 + 7 1961 c.1946A>G c.(1945-1947)cAg>cGg p.Q649R NM_138400.1 NP_612409.1 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 649 RNA metabolic process nucleolus protein binding endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) GCCCGGAAGCAGAGGATGAAC 0.453000 27 28 0 0 0.030593 0 0 EDARADD 128178 broad.mit.edu 37 1 236645850 236645850 + Nonsense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:236645850C>A ENST00000359362.5 + 6 733 c.519C>A c.(517-519)tgC>tgA p.C173* EDARADD_ENST00000334232.4_Nonsense_Mutation_p.C183* NM_080738.3 NP_542776.1 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain 183 Death. cell differentiation|signal transduction cytoplasm endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TGGAGCTCTGCAGGCTCTACC 0.622000 38 179 1.22674e-20 1.89909e-20 0.033182 1 0 DNAH10 196385 broad.mit.edu 37 12 124341758 124341758 + Silent SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr12:124341758C>A ENST00000409039.3 + 36 6265 c.6240C>A c.(6238-6240)gtC>gtA p.V2080V NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2080 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TAGAGCAGGTCCTGGAGGAGA 0.527000 12 28 4.3838e-07 5.2671e-07 0.016723 1 0 CTNND1 1500 broad.mit.edu 37 11 57575697 57575697 + Missense_Mutation SNP G G C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr11:57575697G>C ENST00000524630.1 + 12 2519 c.2006G>C c.(2005-2007)aGc>aCc p.S669T CTNND1_ENST00000529873.1_Missense_Mutation_p.S615T|CTNND1_ENST00000530748.1_Missense_Mutation_p.S621T|CTNND1_ENST00000361332.4_Missense_Mutation_p.S669T|CTNND1_ENST00000526772.1_Missense_Mutation_p.S346T|CTNND1_ENST00000358694.6_Missense_Mutation_p.S669T|CTNND1_ENST00000428599.2_Missense_Mutation_p.S669T|CTNND1_ENST00000532463.1_Missense_Mutation_p.S568T|CTNND1_ENST00000426142.2_Missense_Mutation_p.S568T|CTNND1_ENST00000526938.1_Missense_Mutation_p.S675T|CTNND1_ENST00000532844.1_Missense_Mutation_p.S621T|CTNND1_ENST00000527467.1_Missense_Mutation_p.S352T|CTNND1_ENST00000532245.1_Missense_Mutation_p.S568T|CTNND1_ENST00000415361.2_Missense_Mutation_p.S574T|CTNND1_ENST00000399050.4_Missense_Mutation_p.S675T|CTNND1_ENST00000534579.1_Missense_Mutation_p.S615T|CTNND1_ENST00000530094.1_Missense_Mutation_p.S568T|CTNND1_ENST00000361796.4_Missense_Mutation_p.S669T|CTNND1_ENST00000532649.1_Missense_Mutation_p.S615T|CTNND1_ENST00000528621.1_Missense_Mutation_p.S615T|CTNND1_ENST00000531014.1_Missense_Mutation_p.S346T|CTNND1_ENST00000529526.1_Missense_Mutation_p.S615T|CTNND1_ENST00000361391.6_Missense_Mutation_p.S669T|CTNND1_ENST00000532787.1_Missense_Mutation_p.S568T|CTNND1_ENST00000528232.1_Missense_Mutation_p.S574T|CTNND1_ENST00000360682.6_Missense_Mutation_p.S675T|CTNND1_ENST00000525902.1_Missense_Mutation_p.S352T|CTNND1_ENST00000529919.1_Missense_Mutation_p.S675T|CTNND1_ENST00000529986.1_Missense_Mutation_p.S568T|CTNND1_ENST00000399039.4_Missense_Mutation_p.S675T|CTNND1_ENST00000533667.1_Missense_Mutation_p.S346T|CTNND1_ENST00000526357.1_Missense_Mutation_p.S615T O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 675 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) CTTAAGGAGAGCAAGACTCCT 0.478000 38 75 0 0 0.023175 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 28 25 0 0 0.017118 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64722402 64722402 + Silent SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chrX:64722402C>T ENST00000338957.4 + 5 1891 c.1824C>T c.(1822-1824)acC>acT p.T608T ZC3H12B_ENST00000423889.3_Silent_p.T597T NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 597 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TAGCTGATACCCATCCTGAAG 0.493000 17 22 0 0 0.038395 0 0 SCN5A 6331 broad.mit.edu 37 3 38595866 38595866 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr3:38595866C>T ENST00000413689.1 - 27 4910 c.4717G>A c.(4717-4719)Ggc>Agc p.G1573S SCN5A_ENST00000414099.2_Missense_Mutation_p.G1555S|SCN5A_ENST00000449557.2_Missense_Mutation_p.G1519S|SCN5A_ENST00000450102.2_Missense_Mutation_p.G1519S|SCN5A_ENST00000455624.2_Splice_Site_p.G1572_splice|SCN5A_ENST00000451551.2_Missense_Mutation_p.G1519S|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000423572.2_Missense_Mutation_p.G1572S|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1555S|SCN5A_ENST00000443581.1_Missense_Mutation_p.G1572S|SCN5A_ENST00000333535.4_Missense_Mutation_p.G1573S NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1573 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) ATACACTCGCCTGTGAAGATG 0.498000 66 136 0 0 0.014410 0 0 LY9 4063 broad.mit.edu 37 1 160789137 160789137 + Nonsense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:160789137C>T ENST00000263285.5 + 7 1501 c.1471C>T c.(1471-1473)Caa>Taa p.Q491* LY9_ENST00000368040.1_Nonsense_Mutation_p.Q143*|LY9_ENST00000368041.2_Nonsense_Mutation_p.Q361*|LY9_ENST00000368035.1_Nonsense_Mutation_p.Q143*|LY9_ENST00000341032.4_Nonsense_Mutation_p.Q401* NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 491 cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CTGTTCCAGCCAAGCTGAGGC 0.483000 83 172 0 0 0.014410 0 0 ANK2 287 broad.mit.edu 37 4 114274542 114274542 + Nonsense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr4:114274542G>T ENST00000357077.4 + 38 4821 c.4768G>T c.(4768-4770)Gag>Tag p.E1590* ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Nonsense_Mutation_p.E1557*|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1557 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding 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) ATTAGTTGAAGAGGAATGGGT 0.408000 26 185 2.80507e-11 3.76347e-11 0.012213 1 0 DENND2C 163259 broad.mit.edu 37 1 115166223 115166223 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:115166223C>T ENST00000393274.1 - 5 1473 c.848G>A c.(847-849)cGg>cAg p.R283Q DENND2C_ENST00000393276.3_Missense_Mutation_p.R283Q|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Missense_Mutation_p.R283Q NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 283 p.R283Q(1) NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CTGTGAGTTCCGATTTCGAAA 0.318000 15 96 0 0 0.024245 0 0 ERCC2 2068 broad.mit.edu 37 19 45867504 45867504 + Missense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr19:45867504C>A ENST00000391945.4 - 9 881 c.804G>T c.(802-804)aaG>aaT p.K268N ERCC2_ENST00000485403.2_Missense_Mutation_p.K244N|ERCC2_ENST00000391940.4_Missense_Mutation_p.K244N|ERCC2_ENST00000221481.6_3'UTR|ERCC2_ENST00000391944.3_Missense_Mutation_p.K190N NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 268 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) TGAGCACCGTCTTCTGCAGGG 0.687000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 11 30 6.40141e-05 7.28358e-05 0.010729 1 0 PENK 5179 broad.mit.edu 37 8 57358315 57358315 + Silent SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr8:57358315G>A ENST00000518770.1 - 3 351 c.198C>T c.(196-198)taC>taT p.Y66Y PENK_ENST00000314922.3_Intron|PENK_ENST00000523051.1_Intron|PENK_ENST00000451791.2_Intron P01210 PENK_HUMAN proenkephalin 125 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) GGCAGTCCGCGTACTGTTGCG 0.682000 11 35 0 0 0.008291 0 0 ADCY2 108 broad.mit.edu 37 5 7626381 7626381 + Silent SNP T T C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr5:7626381T>C ENST00000338316.4 + 4 761 c.672T>C c.(670-672)tgT>tgC p.C224C NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 224 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 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 AGGACACCTGTAATTGCATCA 0.413000 58 151 0 0 0.014410 0 0 KCNB1 3745 broad.mit.edu 37 20 47991417 47991417 + Missense_Mutation SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr20:47991417G>A ENST00000371741.4 - 2 846 c.680C>T c.(679-681)cCc>cTc p.P227L NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 227 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGCCAGCTGGGGGTTGTCTGT 0.577000 19 57 0 0 0.010504 0 0 GPR89A 653519 broad.mit.edu 37 1 145765424 145765424 + Missense_Mutation SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:145765424G>A ENST00000313835.9 - 13 1249 c.1106C>T c.(1105-1107)gCc>gTc p.A369V GPR89A_ENST00000534502.1_Missense_Mutation_p.A344V|GPR89A_ENST00000462900.2_Missense_Mutation_p.A344V|GPR89A_ENST00000454423.3_Missense_Mutation_p.A249V B7ZAQ6 GPHRA_HUMAN G protein-coupled receptor 89A 369 intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane signal transducer activity|voltage-gated anion channel activity breast(1)|large_intestine(3)|lung(1)|skin(1) 6 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) GCTAGAGATGGCATAAAAGAA 0.338000 9 667 0 0 0.006214 0 0 MUC4 4585 broad.mit.edu 37 3 195516064 195516064 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr3:195516064C>T ENST00000463781.3 - 2 2846 c.2387G>A c.(2386-2388)cGa>cAa p.R796Q MUC4_ENST00000475231.1_Missense_Mutation_p.R796Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 801 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.R796Q(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGAGGTGGTTCGTGACCCTGA 0.602000 19 59 0 0 0.008871 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597524 136597524 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr6:136597524G>T ENST00000531224.1 - 5 1391 c.1139C>A c.(1138-1140)gCt>gAt p.A380D BCLAF1_ENST00000353331.4_Missense_Mutation_p.A378D|BCLAF1_ENST00000527759.1_Missense_Mutation_p.A378D|BCLAF1_ENST00000527536.1_Missense_Mutation_p.A380D|BCLAF1_ENST00000392348.2_Missense_Mutation_p.A378D|BCLAF1_ENST00000530767.1_Intron NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 380 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GTAATCTAGAGCTTCCTGATC 0.428000 17 581 1.33834e-09 1.70334e-09 0.043863 1 0 RP1L1 94137 broad.mit.edu 37 8 10469612 10469612 + Missense_Mutation SNP T T A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr8:10469612T>A ENST00000382483.3 - 4 2219 c.1996A>T c.(1996-1998)Agg>Tgg p.R666W NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 666 intracellular signal transduction 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) TGAGAATGCCTGGGATGGCCT 0.647000 28 47 0 0 0.041601 0 0 ITIH2 3698 broad.mit.edu 37 10 7755155 7755155 + Missense_Mutation SNP G G C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr10:7755155G>C ENST00000358415.4 + 5 540 c.374G>C c.(373-375)gGc>gCc p.G125A ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.G114A NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 125 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 ACTGTGGACGGCAAGACATTT 0.478000 4 62 0 0 0.009096 0 0 ACLY 47 broad.mit.edu 37 17 40034439 40034439 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr17:40034439C>T ENST00000352035.2 - 22 2534 c.2404G>A c.(2404-2406)Gaa>Aaa p.E802K ACLY_ENST00000393896.2_Missense_Mutation_p.E792K|ACLY_ENST00000537919.1_Missense_Mutation_p.E531K|ACLY_ENST00000590151.1_Missense_Mutation_p.E802K|ACLY_ENST00000353196.1_Missense_Mutation_p.E792K NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 802 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) ACGAGATCTTCGTATACAGAC 0.507000 3 40 0 0 0.009096 0 0 LTN1 26046 broad.mit.edu 37 21 30329087 30329087 + Missense_Mutation SNP T T A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr21:30329087T>A ENST00000361371.4 - 16 3226 c.3076A>T c.(3076-3078)Ata>Tta p.I1026L LTN1_ENST00000389194.2_Missense_Mutation_p.I1072L NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 1026 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 TACTTACTTATTTTCTCAAGC 0.284000 8 33 0 0 0.038147 0 0 ENAH 55740 broad.mit.edu 37 1 225707048 225707048 + Silent SNP C C T rs71170086 TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:225707048C>T ENST00000366844.2 - 5 1105 c.654G>A c.(652-654)cgG>cgA p.R218R ENAH_ENST00000366843.2_Silent_p.R218R|ENAH_ENST00000284563.6_Silent_p.R237R|ENAH_ENST00000391874.2_5'UTR NM_001008493.1 NP_001008493.1 Q8N8S7 ENAH_HUMAN enabled homolog (Drosophila) 218 axon guidance|intracellular transport|T cell receptor signaling pathway cytosol|filopodium|focal adhesion|lamellipodium|synapse actin binding|SH3 domain binding|WW domain binding NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.19) GGcgttcctgccgctccaggc 0.597000 5 89 0 0 0.014758 0 0 C20orf195 79025 broad.mit.edu 37 20 62187642 62187642 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr20:62187642C>T ENST00000370098.3 + 2 718 c.626C>T c.(625-627)cCt>cTt p.P209L C20orf195_ENST00000370097.1_Missense_Mutation_p.P209L NM_024059.2 NP_076964.1 Q9BVV2 CT195_HUMAN chromosome 20 open reading frame 195 209 large_intestine(3)|lung(4) 7 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) ACCAAGATGCCTGTCGTGTTT 0.617000 15 44 0 0 0.012319 0 0 RP1L1 94137 broad.mit.edu 37 8 10467776 10467776 + Missense_Mutation SNP T T C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr8:10467776T>C ENST00000382483.3 - 4 4055 c.3832A>G c.(3832-3834)Aga>Gga p.R1278G NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1278 intracellular signal transduction 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) TCACTGTCTCTTTCTGCTTCA 0.512000 17 99 0 0 0.043863 0 0 LIX1L 128077 broad.mit.edu 37 1 145487315 145487315 + Missense_Mutation SNP G G C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:145487315G>C ENST00000369308.3 + 2 378 c.304G>C c.(304-306)Gag>Cag p.E102Q RP11-315I20.1_ENST00000437207.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA NM_153713.1 NP_714924.1 Q8IVB5 LIX1L_HUMAN Lix1 homolog (mouse)-like 102 large_intestine(4)|lung(6)|ovary(2)|skin(1) 13 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GAATGTGGTGGAGGCACTTCA 0.468000 5 172 0 0 0.014758 0 0 EPHB1 2047 broad.mit.edu 37 3 134851647 134851647 + Silent SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr3:134851647G>T ENST00000398015.3 + 5 1423 c.1053G>T c.(1051-1053)cgG>cgT p.R351R EPHB1_ENST00000488154.1_3'UTR|EPHB1_ENST00000493838.1_5'UTR NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 351 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding 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 CAGGTGGGCGGGATGATGTGA 0.587000 15 38 1.05317e-09 1.35648e-09 0.020292 1 0 PURG 29942 broad.mit.edu 37 8 30889476 30889476 + Missense_Mutation SNP A A G TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr8:30889476A>G ENST00000475541.1 - 1 1755 c.823T>C c.(823-825)Tac>Cac p.Y275H PURG_ENST00000339382.2_Missense_Mutation_p.Y275H NM_013357.2 NP_037489.1 Q9UJV8 PURG_HUMAN purine-rich element binding protein G 275 nucleus DNA binding endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) ACATCAAAGTAGAACCTTTTA 0.438000 22 42 0 0 0.012319 0 0 CLPTM1 1209 broad.mit.edu 37 19 45489713 45489713 + Splice_Site SNP A A T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr19:45489713A>T ENST00000541297.2 + 7 1096 c.630_splice c.e7-1 p.R211_splice CLPTM1_ENST00000337392.5_Splice_Site_p.R225_splice|CLPTM1_ENST00000546079.1_Splice_Site_p.R123_splice|CLPTM1_ENST00000589158.1_3'UTR O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane protein 1 225 cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) GTTGCCTCAGAGGGCTGAGGA 0.577000 13 104 0 0 0.028581 0 0 LRP2 4036 broad.mit.edu 37 2 170063148 170063148 + Missense_Mutation SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr2:170063148G>A ENST00000263816.3 - 39 7367 c.7082C>T c.(7081-7083)cCt>cTt p.P2361L NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2361 EGF-like 9. 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 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) GTGCAATCCAGGCAGAGCAAA 0.488000 34 99 0 0 0.023175 0 0 ZNF133 7692 broad.mit.edu 37 20 18296289 18296289 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr20:18296289C>T ENST00000377671.3 + 7 1350 c.791C>T c.(790-792)tCg>tTg p.S264L ZNF133_ENST00000316358.4_Missense_Mutation_p.S265L|ZNF133_ENST00000538547.1_Missense_Mutation_p.S170L|ZNF133_ENST00000402618.2_Missense_Mutation_p.S202L|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000396026.3_Missense_Mutation_p.S268L|ZNF133_ENST00000401790.1_Missense_Mutation_p.S265L|ZNF133_ENST00000535822.1_Missense_Mutation_p.S170L NM_001083330.1|NM_003434.4 NP_001076799.1|NP_003425.2 P52736 ZN133_HUMAN zinc finger protein 133 265 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 AAGGCACACTCGGGGGAGAAG 0.552000 5 78 0 0 0.014758 0 0 MUC5B 727897 broad.mit.edu 37 11 1267038 1267038 + Silent SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr11:1267038C>A ENST00000447027.1 + 31 8995 c.8937C>A c.(8935-8937)gcC>gcA p.A2979A RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.A2976A Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2976 17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCACCCCGGCCACCAGCTCTA 0.607000 6 11 5.18039e-06 6.08791e-06 0.038147 1 0 COLGALT1 79709 broad.mit.edu 37 19 17671210 17671210 + Missense_Mutation SNP A A T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr19:17671210A>T ENST00000252599.4 + 3 545 c.425A>T c.(424-426)cAt>cTt p.H142L NM_024656.2 NP_078932.2 collagen beta(1-O)galactosyltransferase 1 CGCTACGAGCATGTCATGAAG 0.552000 14 35 0 0 0.033300 0 0 AQP7 364 broad.mit.edu 37 9 33386084 33386084 + Silent SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr9:33386084G>A ENST00000537089.1 - 5 558 c.240C>T c.(238-240)ttC>ttT p.F80F AQP7_ENST00000377425.4_Silent_p.F115F|AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Silent_p.F172F O14520 AQP7_HUMAN aquaporin 7 172 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCTCATTCAGGAAGCCCCGCC 0.587000 17 93 0 0 0.038395 0 0 LIMK2 3985 broad.mit.edu 37 22 31644745 31644745 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr22:31644745G>T ENST00000333611.4 + 1 358 c.43G>T c.(43-45)Gac>Tac p.D15Y LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000406516.1_Intron|LIMK2_ENST00000331728.4_Intron|LIMK2_ENST00000340552.4_Missense_Mutation_p.D15Y NM_016733.2 NP_057952.1 P53671 LIMK2_HUMAN LIM domain kinase 2 0 LIM zinc-binding 1. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 CACCTCCAGAGACCTGTTTCG 0.552000 17 105 2.4624e-09 3.12162e-09 0.008871 1 0 ZNF831 128611 broad.mit.edu 37 20 57768689 57768689 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr20:57768689G>T ENST00000371030.2 + 1 2615 c.2615G>T c.(2614-2616)aGt>aTt p.S872I NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 872 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) TCAAAGGAGAGTGCCAGGCAG 0.657000 12 49 3.45872e-05 3.97752e-05 0.028581 1 0 RADIL 55698 broad.mit.edu 37 7 4917468 4917468 + Silent SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr7:4917468G>A ENST00000399583.3 - 2 490 c.303C>T c.(301-303)gcC>gcT p.A101A RADIL_ENST00000536091.1_Silent_p.A101A NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 101 Ras-associating. cell adhesion|multicellular organismal development|signal transduction protein binding 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) TGGGGTCCAGGGCGTACCGCT 0.682000 8 30 0 0 0.010729 0 0 GPR34 2857 broad.mit.edu 37 X 41555023 41555023 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chrX:41555023G>T ENST00000378142.4 + 3 421 c.137G>T c.(136-138)tGt>tTt p.C46F CASK_ENST00000318588.9_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.C46F|CASK_ENST00000378154.1_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000421587.2_Intron NM_001097579.1|NM_005300.3 NP_001091048.1|NP_005291.1 Q9UPC5 GPR34_HUMAN G protein-coupled receptor 34 46 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 14 GTTACTACCTGTCCCATGGAT 0.443000 34 83 1.90571e-15 2.77664e-15 0.019004 1 0 HELB 92797 broad.mit.edu 37 12 66698690 66698690 + Nonsense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr12:66698690C>T ENST00000247815.4 + 2 426 c.367C>T c.(367-369)Caa>Taa p.Q123* NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 123 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) ACCACCAAATCAAAAACATAT 0.368000 9 134 0 0 0.006214 0 0 OTOP1 133060 broad.mit.edu 37 4 4228436 4228436 + Missense_Mutation SNP G G C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr4:4228436G>C ENST00000296358.4 - 1 180 c.156C>G c.(154-156)agC>agG p.S52R NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 52 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TCTGTGGGACGCTGGCGCGCA 0.746000 4 11 0 0 0.021553 0 0 RYR2 6262 broad.mit.edu 37 1 237969450 237969450 + Missense_Mutation SNP T T C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:237969450T>C ENST00000366574.2 + 99 14482 c.14165T>C c.(14164-14166)cTa>cCa p.L4722P RYR2_ENST00000360064.6_Missense_Mutation_p.L4728P|RYR2_ENST00000542537.1_Missense_Mutation_p.L4706P NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4722 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) TTCCTCTACCTAGCCTGGTAT 0.403000 21 37 0 0 0.012319 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509746 106509746 + Nonsense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr7:106509746C>A ENST00000359195.3 + 2 2050 c.1740C>A c.(1738-1740)taC>taA p.Y580* PIK3CG_ENST00000496166.1_Nonsense_Mutation_p.Y580*|PIK3CG_ENST00000440650.2_Nonsense_Mutation_p.Y580* NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 580 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 ATTTTAGATACGAAAGCCTTA 0.448000 51 83 4.00472e-15 5.7826e-15 0.014410 1 0 IKBKAP 8518 broad.mit.edu 37 9 111689661 111689661 + Missense_Mutation SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr9:111689661G>A ENST00000374647.5 - 4 683 c.376C>T c.(376-378)Ctt>Ttt p.L126F IKBKAP_ENST00000537196.1_Intron NM_003640.3 NP_003631.2 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 126 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 CCTGTGGCAAGAAGCACCAGC 0.443000 35 86 0 0 0.030466 0 0 MCM6 4175 broad.mit.edu 37 2 136603920 136603920 + Missense_Mutation SNP T T C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr2:136603920T>C ENST00000264156.2 - 15 2156 c.2096A>G c.(2095-2097)tAc>tGc p.Y699C MCM6_ENST00000492091.1_5'UTR NM_005915.5 NP_005906.2 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 699 cell cycle checkpoint|DNA strand elongation involved in DNA replication|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 MCM complex ATP binding|identical protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) GTCTTCATTGTAGCCATTGAT 0.458000 49 473 0 0 0.014410 0 0 EFCAB1 79645 broad.mit.edu 37 8 49637302 49637302 + Silent SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr8:49637302C>T ENST00000433756.1 - 5 638 c.479G>A c.(478-480)tGa>tAa p.*160* EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Silent_p.*160*|EFCAB1_ENST00000262103.3_Silent_p.*212* NM_001142857.1 NP_001136329.1 Q9HAE3 EFCB1_HUMAN EF-hand calcium binding domain 1 0 EF-hand 3. calcium ion binding endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2) 14 all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464) TTTAGTTATTCACATATCATT 0.289000 4 12 0 0 0.009096 0 0 PES1 23481 broad.mit.edu 37 22 30976163 30976163 + Missense_Mutation SNP C C G TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr22:30976163C>G ENST00000402281.1 - 13 1620 c.629G>C c.(628-630)aGt>aCt p.S210T PES1_ENST00000354694.6_Missense_Mutation_p.S349T|PES1_ENST00000405677.1_Missense_Mutation_p.S210T|PES1_ENST00000335214.6_Missense_Mutation_p.S344T|PES1_ENST00000402284.3_Missense_Mutation_p.S332T O00541 PESC_HUMAN pescadillo ribosomal biogenesis factor 1 349 Sufficient for nucleolar localization. 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 breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 29 CCCACCAAAACTCCTACAGGG 0.587000 3 34 0 0 0.004672 0 0 KIAA1211 57482 broad.mit.edu 37 4 57164495 57164495 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr4:57164495G>T ENST00000504228.1 + 2 205 c.100G>T c.(100-102)Ggc>Tgc p.G34C KIAA1211_ENST00000264229.6_Missense_Mutation_p.G34C|KIAA1211_ENST00000541073.1_Missense_Mutation_p.W19C Q6ZU35 K1211_HUMAN KIAA1211 34 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) CAACATCCTGGGCAAAGTCAA 0.493000 18 111 6.94344e-10 9.01528e-10 0.038395 1 0 LRP2 4036 broad.mit.edu 37 2 170063141 170063141 + Missense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr2:170063141C>A ENST00000263816.3 - 39 7374 c.7089G>T c.(7087-7089)ttG>ttT p.L2363F NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2363 EGF-like 9. 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 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) TTGGGGTGTGCAATCCAGGCA 0.483000 38 95 8.16277e-20 1.25761e-19 0.027894 1 0 RGS18 64407 broad.mit.edu 37 1 192127796 192127796 + Missense_Mutation SNP A A T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:192127796A>T ENST00000367460.3 + 1 210 c.29A>T c.(28-30)cAa>cTa p.Q10L RGS18_ENST00000481707.1_3'UTR NM_130782.2 NP_570138.1 Q9NS28 RGS18_HUMAN regulator of G-protein signaling 18 10 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TTCTTTTCTCAAATAAATATG 0.279000 9 61 0 0 0.004482 0 0 KLRG2 346689 broad.mit.edu 37 7 139164445 139164445 + Silent SNP C C G TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr7:139164445C>G ENST00000340940.4 - 3 1002 c.933G>C c.(931-933)gcG>gcC p.A311A KLRG2_ENST00000393039.2_Intron NM_198508.2 NP_940910.1 A4D1S0 KLRG2_HUMAN killer cell lectin-like receptor subfamily G, member 2 311 C-type lectin. integral to membrane sugar binding central_nervous_system(1)|large_intestine(2)|lung(3) 6 Melanoma(164;0.233) CCCAGGCCTGCGCTTCTGCAG 0.617000 9 57 0 0 0.004482 0 0 FRMPD1 22844 broad.mit.edu 37 9 37732384 37732384 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr9:37732384G>T ENST00000539465.1 + 10 1535 c.942G>T c.(940-942)caG>caT p.Q314H RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.Q136H|FRMPD1_ENST00000377765.3_Missense_Mutation_p.Q314H|FRMPD1_ENST00000541302.1_Missense_Mutation_p.Q183H Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 314 FERM. cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) TGCACATCCAGGAACGGATCT 0.498000 9 61 2.17888e-05 2.52374e-05 0.006214 1 0 ASXL3 80816 broad.mit.edu 37 18 31250636 31250636 + Splice_Site SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr18:31250636G>T ENST00000269197.5 + 6 477 c.e6-1 NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ATGTTTTGTAGGCTTTGAGGC 0.333000 7 4 2.0095e-06 2.37889e-06 0.029380 1 0 SCN4A 6329 broad.mit.edu 37 17 62041867 62041867 + Missense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr17:62041867C>A ENST00000435607.1 - 9 1489 c.1413G>T c.(1411-1413)atG>atT p.M471I SCN4A_ENST00000578147.1_Missense_Mutation_p.M471I NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 471 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity 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) ACTTCTCAAGCATCTGCTGAA 0.562000 14 25 8.60227e-14 1.19394e-13 0.028581 1 0 TPTE 7179 broad.mit.edu 37 21 10934986 10934986 + Silent SNP C C G TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr21:10934986C>G ENST00000298232.7 - 14 1120 c.753G>C c.(751-753)cgG>cgC p.R251R TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.R231R|TPTE_ENST00000361285.4_Silent_p.R269R NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 269 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 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) TATCTAGAAACCGCACAACTT 0.343000 5 201 0 0 0.014758 0 0 ACTN2 88 broad.mit.edu 37 1 236898981 236898981 + Nonsense_Mutation SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:236898981C>A ENST00000366578.4 + 8 910 c.744C>A c.(742-744)taC>taA p.Y248* ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Intron|ACTN2_ENST00000492634.1_3'UTR NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 248 Actin-binding.|CH 2. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding p.Y248Y(1) endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) TCATGACGTACGTCTCTTGCT 0.522000 42 73 1.51926e-22 2.39804e-22 0.014410 1 0 FNBP1L 54874 broad.mit.edu 37 1 93998519 93998519 + Missense_Mutation SNP G G C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:93998519G>C ENST00000260506.8 + 8 831 c.680G>C c.(679-681)aGt>aCt p.S227T FNBP1L_ENST00000370256.4_Missense_Mutation_p.S227T|FNBP1L_ENST00000370253.2_Missense_Mutation_p.S227T|FNBP1L_ENST00000271234.7_Missense_Mutation_p.S227T|FNBP1L_ENST00000604705.1_Missense_Mutation_p.S227T NM_001024948.2|NM_017737.4 NP_001020119.1|NP_060207.2 Q5T0N5 FBP1L_HUMAN formin binding protein 1-like 227 Induction of membrane tubulation (By similarity). endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane lipid binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1) 11 all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155) all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111) ATTAAACTCAGTGAGTGTTAC 0.328000 9 45 0 0 0.004482 0 0 CACNB2 783 broad.mit.edu 37 10 18825107 18825107 + Silent SNP A A G TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr10:18825107A>G ENST00000396576.2 + 11 1620 c.1119A>G c.(1117-1119)aaA>aaG p.K373K CACNB2_ENST00000352115.6_Silent_p.K404K|CACNB2_ENST00000324631.7_Silent_p.K428K|CACNB2_ENST00000377329.4_Silent_p.K374K|CACNB2_ENST00000377328.1_Silent_p.K178K|CACNB2_ENST00000282343.8_Silent_p.K400K|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377315.4_Silent_p.K380K|CACNB2_ENST00000377331.2_Silent_p.K376K|CACNB2_ENST00000377319.3_Silent_p.K335K NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 428 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity 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) CAGCTGATAAACTGGCTCAGT 0.338000 38 103 0 0 0.039052 0 0 DSG1 1828 broad.mit.edu 37 18 28916419 28916419 + Missense_Mutation SNP T T A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr18:28916419T>A ENST00000257192.4 + 9 1320 c.1108T>A c.(1108-1110)Tct>Act p.S370T NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 370 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 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) ACTGAAAGCATCTGCAATTTC 0.348000 39 98 0 0 0.027894 0 0 POLDIP3 84271 broad.mit.edu 37 22 42995708 42995708 + Missense_Mutation SNP T T C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr22:42995708T>C ENST00000252115.5 - 4 733 c.629A>G c.(628-630)cAc>cGc p.H210R POLDIP3_ENST00000451060.2_Missense_Mutation_p.H54R|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Missense_Mutation_p.H181R|POLDIP3_ENST00000339677.6_Intron NM_032311.3 NP_115687.2 Q9BY77 PDIP3_HUMAN polymerase (DNA-directed), delta interacting protein 3 210 positive regulation of translation cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1) 16 CCATACCATGTGGTGGAGAAA 0.428000 4 94 0 0 0.014758 0 0 TRBV7-3 28595 broad.mit.edu 37 7 142247404 142247404 + RNA SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr7:142247404G>A ENST00000390361.3 - 0 101 GCACCTGTGTGATCTGCGGAG 0.478000 12 103 0 0 0.013537 0 0 KIF1B 23095 broad.mit.edu 37 1 10355184 10355185 + Frame_Shift_Ins INS - - T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:10355184_10355185insT ENST00000377086.1 + 18 1833_1834 c.1631_1632insT c.(1630-1632)tgafs p.*544fs KIF1B_ENST00000377093.4_Frame_Shift_Ins_p.*498fs|KIF1B_ENST00000263934.6_Frame_Shift_Ins_p.*498fs|KIF1B_ENST00000377083.1_Frame_Shift_Ins_p.*498fs|KIF1B_ENST00000377081.1_Frame_Shift_Ins_p.*544fs O60333 KIF1B_HUMAN kinesin family member 1B 544 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 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) CCACTAATGTCTGAGTGCCTAC 0.386 19 240 --- --- --- --- RP11-640M9.2 0 broad.mit.edu 37 1 144597983 144597991 + RNA DEL CAGATAGAC CAGATAGAC - rs111294330 TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:144597983_144597991delCAGATAGAC ENST00000419820.1 + 0 439 TATACGTGTACAGATAGACCAGATAGACC 0.402 3 5 --- --- --- --- INSRR 3645 broad.mit.edu 37 1 156815041 156815041 + Frame_Shift_Del DEL C C - TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:156815041delC ENST00000368195.3 - 12 2660 c.2264delG c.(2263-2265)gcfs p.G755fs NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 755 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CGAGCTGTTGCCCCCCAGCCG 0.687 7 23 --- --- --- --- OR2L3 391192 broad.mit.edu 37 1 248224523 248224523 + Frame_Shift_Del DEL C C - TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr1:248224523delC ENST00000359959.3 + 1 540 c.540delC c.(538-540)gtfs p.V180fs OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 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;0.0278) TCTGTGATGTCCCAGCAATGG 0.463 7 388 --- --- --- --- LINC01317 104355287 broad.mit.edu 37 2 34041837 34041838 + RNA INS - - CCTCC rs140516377 by1000genomes TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr2:34041837_34041838insCCTCC ENST00000366209.2 + 0 68 tcttctcttctcctcccctccc 0.480 2 4 --- --- --- --- FOXP1 27086 broad.mit.edu 37 3 71027086 71027087 + Frame_Shift_Ins INS - - G rs79651000 by1000genomes TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr3:71027086_71027087insG ENST00000318789.4 - 15 1765_1766 c.1240_1241insC c.(1240-1242)gacfs p.D414fs FOXP1_ENST00000498215.1_Frame_Shift_Ins_p.D414fs|FOXP1_ENST00000493089.1_Frame_Shift_Ins_p.D414fs|FOXP1_ENST00000484350.1_Frame_Shift_Ins_p.D338fs|FOXP1_ENST00000475937.1_Frame_Shift_Ins_p.D414fs|FOXP1_ENST00000468577.1_Frame_Shift_Ins_p.D414fs|FOXP1_ENST00000491238.1_Frame_Shift_Ins_p.D416fs NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 414 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) GACGGGAGTCAGGGGGGCGGTT 0.569 T PAX5 ALL 7 348 --- --- --- --- RP11-489E7.1 0 broad.mit.edu 37 8 29766197 29766197 + RNA DEL A A - rs67281389 TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr8:29766197delA ENST00000521908.1 + 0 275 gaaaagaaagaaaagaaagaa 0.458 2 4 --- --- --- --- ADRB3 155 broad.mit.edu 37 8 37823031 37823032 + Frame_Shift_Ins INS - - C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr8:37823031_37823032insC ENST00000345060.3 - 1 1451_1452 c.956_957insG c.(955-957)gccfs p.A319fs ADRB3_ENST00000520341.1_5'UTR NM_000025.2 NP_000016.1 P13945 ADRB3_HUMAN adrenoceptor beta 3 319 carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade integral to plasma membrane|receptor complex beta3-adrenergic receptor activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4) 9 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571) CTAGAGAGGGGCCCCCCAGGGC 0.629 2 4 --- --- --- --- CCAR1 55749 broad.mit.edu 37 10 70506934 70506935 + Frame_Shift_Ins INS - - C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr10:70506934_70506935insC ENST00000265872.6 + 7 654_655 c.535_536insC c.(535-537)cccfs p.P179fs CCAR1_ENST00000543719.1_Frame_Shift_Ins_p.P164fs|CCAR1_ENST00000535016.1_Frame_Shift_Ins_p.P164fs NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 179 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 CAAAGGGAAAACCCCCCAAGTA 0.307 9 115 --- --- --- --- CPEB3 22849 broad.mit.edu 37 10 93999919 93999920 + Frame_Shift_Ins INS - - G TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr10:93999919_93999920insG ENST00000412050.4 - 2 276_277 c.188_189insC c.(187-189)cgcfs p.R63fs CPEB3_ENST00000265997.4_Frame_Shift_Ins_p.R63fs NM_001178137.1 NP_001171608.1 Q8NE35 CPEB3_HUMAN cytoplasmic polyadenylation element binding protein 3 63 Pro-rich. nucleotide binding|RNA binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0869) CGTTGGGGGCCGGGGGGGCAGC 0.693 3 4 --- --- --- --- ATN1 1822 broad.mit.edu 37 12 7044824 7044825 + Frame_Shift_Ins INS - - C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr12:7044824_7044825insC ENST00000356654.4 + 5 631_632 c.394_395insC c.(394-396)cccfs p.P132fs ATN1_ENST00000396684.2_Frame_Shift_Ins_p.P132fs NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 132 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 CCGAAGCACGTCCCCCAGTATC 0.594 7 475 --- --- --- --- ATF7IP2 80063 broad.mit.edu 37 16 10574747 10574748 + Frame_Shift_Ins INS - - C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr16:10574747_10574748insC ENST00000396560.2 + 11 1788_1789 c.1561_1562insC c.(1561-1563)cccfs p.P521fs ATF7IP2_ENST00000356427.2_Frame_Shift_Ins_p.P521fs|ATF7IP2_ENST00000543967.1_Frame_Shift_Ins_p.P65fs|ATF7IP2_ENST00000324570.5_Frame_Shift_Ins_p.YP498fs|ATF7IP2_ENST00000396559.1_Frame_Shift_Ins_p.YP498fs NM_024997.3 NP_079273.2 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting protein 2 521 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 AAGTCCAGTATCCCCCCTGGAG 0.406 7 458 --- --- --- --- RP11-410D17.2 0 broad.mit.edu 37 16 58810403 58810403 + RNA DEL C C - TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr16:58810403delC ENST00000500117.1 + 0 679 AAGCTGCGCGCCCATGAGTTT 0.562 13 29 --- --- --- --- AP001604.3 0 broad.mit.edu 37 21 28797499 28797501 + RNA DEL TCC TCC - TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chr21:28797499_28797501delTCC ENST00000420186.2 - 0 202 cttccttccttccccctccctcc 0.399 2 4 --- --- --- --- GPR34 2857 broad.mit.edu 37 X 41555104 41555131 + Frame_Shift_Del DEL TAATCGCCCTCTATGTATTTCTGGGTAT TAATCGCCCTCTATGTATTTCTGGGTAT - TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chrX:41555104_41555131delTAATCGCCCTCTATGTATTTCTGGGTAT ENST00000378142.4 + 3 502_529 c.218_245delTAATCGCCCTCTATGTATTTCTGGGTAT c.(217-246)atfs p.IIALYVFLGI73fs CASK_ENST00000442742.2_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000318588.9_Intron|GPR34_ENST00000378138.5_Frame_Shift_Del_p.IIALYVFLGI73fs|CASK_ENST00000378154.1_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron NM_001097579.1|NM_005300.3 NP_001091048.1|NP_005291.1 Q9UPC5 GPR34_HUMAN G protein-coupled receptor 34 73 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.A75T(1) breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 14 GTTGGGAACATAATCGCCCTCTATGTATTTCTGGGTATTCACCGTAAA 0.390 10 177 --- --- --- --- GPKOW 27238 broad.mit.edu 37 X 48979004 48979005 + Frame_Shift_Ins INS - - T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chrX:48979004_48979005insT ENST00000156109.5 - 2 376_377 c.298_299insA c.(298-300)ggtfs p.G100fs NM_015698.4 NP_056513.2 Q92917 GPKOW_HUMAN G patch domain and KOW motifs 100 nucleus nucleic acid binding breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2) 21 CTGGGACACCACCCCATCCGCC 0.589 15 59 --- --- --- --- GAGE2D 729408 broad.mit.edu 37 X 49208295 49208296 + In_Frame_Ins INS - - TAT TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chrX:49208295_49208296insTAT ENST00000404720.2 + 2 96_97 c.24_25insTAT c.(22-27)acatcg>acTATatcg p.8_9TS>TIS NM_001098407.1|NM_012196.1 NP_001091877.1|NP_036328.1 G antigen 2D GAAGATCGACCTATCGGCCTAG 0.465 8 15 --- --- --- --- SATL1 340562 broad.mit.edu 37 X 84363285 84363285 + Frame_Shift_Del DEL T T - TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx f834dfa4-8d9c-4e0b-861f-a3cc31245237 f8c1cf51-337d-4bc7-8ab4-131453e10d1c g.chrX:84363285delT ENST00000509231.1 - 1 769 c.690delA c.(688-690)cafs p.Q230fs SATL1_ENST00000332921.5_Frame_Shift_Del_p.Q43fs|SATL1_ENST00000395409.3_Frame_Shift_Del_p.Q43fs Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 43 Gln-rich. N-acetyltransferase activity NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1) 29 TAGTGTCTGGTTGCCTTATGC 0.507 54 119 --- --- --- ---