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 BAI2 576 broad.mit.edu 37 1 32203837 32203837 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:32203837G>A ENST00000373658.3 - 18 3077 c.2736C>T c.(2734-2736)tcC>tcT p.S912S BAI2_ENST00000257070.4_Silent_p.S912S|BAI2_ENST00000398547.1_Silent_p.S845S|BAI2_ENST00000398542.1_Silent_p.S845S|BAI2_ENST00000398538.1_Silent_p.S900S|BAI2_ENST00000373655.2_Silent_p.S912S|BAI2_ENST00000440175.2_Silent_p.S554S|BAI2_ENST00000398556.3_Silent_p.S860S|BAI2_ENST00000527361.1_Silent_p.S912S NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 912 GPS. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) CAGCAAAGGTGGACAGGTGCT 0.612000 8 31 0 0 1 0 0 PYCR2 29920 broad.mit.edu 37 1 226109641 226109641 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:226109641T>A ENST00000343818.6 - 4 605 c.457A>T c.(457-459)Atg>Ttg p.M153L RP4-559A3.7_ENST00000432920.2_Intron|PYCR2_ENST00000478402.1_5'UTR NM_013328.2 NP_037460.2 Q96C36 P5CR2_HUMAN pyrroline-5-carboxylate reductase family, member 2 153 proline biosynthetic process cytoplasm binding|pyrroline-5-carboxylate reductase activity kidney(1)|lung(3) 4 Breast(184;0.197) L-Proline(DB00172)|NADH(DB00157) ACGCTGCTCATGAGCTGCTCC 0.627000 15 31 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139180268 139180268 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:139180268G>T ENST00000395297.1 - 12 1298 c.1128C>A c.(1126-1128)tcC>tcA p.S376S NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 376 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GGATATCCAGGGACAGCTGGC 0.597000 HNSCC(54;0.14) 15 85 3.41278e-10 5.73177e-10 1 1 0 PERP 64065 broad.mit.edu 37 6 138428378 138428378 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:138428378C>A ENST00000421351.3 - 1 270 c.100G>T c.(100-102)Ggc>Tgc p.G34C NM_022121.4 NP_071404.2 Q96FX8 PERP_HUMAN PERP, TP53 apoptosis effector 34 apoptosis|cell adhesion desmosome|Golgi apparatus|integral to membrane|nucleus breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1) 5 Breast(32;0.0799)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997) TGCAACCAGCCGCGGCCGGCC 0.687000 13 59 9.05144e-12 1.60374e-11 1 1 0 B3GAT2 135152 broad.mit.edu 37 6 71603914 71603914 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:71603914T>C ENST00000230053.6 - 2 1261 c.653A>G c.(652-654)gAa>gGa p.E218G NM_080742.2 NP_542780.1 Q9NPZ5 B3GA2_HUMAN beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) 218 carbohydrate biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 CAGCGGACGTTCGTAGCGCCG 0.552000 7 55 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195400778 195400778 + RNA SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:195400778C>A ENST00000445430.1 + 0 1374 ATGGTGTCAACCGCCTCGGGG 0.607000 7 29 0.00198382 0.00224067 1 1 0 ACSM1 116285 broad.mit.edu 37 16 20693591 20693591 + Silent SNP G G T rs143258524 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:20693591G>T ENST00000307493.4 - 3 665 c.598C>A c.(598-600)Cga>Aga p.R200R ACSM1_ENST00000520010.1_Silent_p.R200R|ACSM1_ENST00000219151.4_5'UTR NM_052956.2 NP_443188.2 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 200 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 ACCAGCGATCGGAAGTCCAGC 0.507000 9 51 1.12685e-05 1.46718e-05 1 1 0 CHRM3 1131 broad.mit.edu 37 1 240071680 240071680 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:240071680G>T ENST00000255380.4 + 5 1708 c.929G>T c.(928-930)cGc>cTc p.R310L NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 310 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) AAGTATGGCCGCTGCCACTTC 0.522000 13 36 1.36491e-13 2.55254e-13 1 1 0 SENP7 57337 broad.mit.edu 37 3 101059014 101059014 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:101059014C>A ENST00000394095.2 - 16 2335 c.2282G>T c.(2281-2283)gGa>gTa p.G761V SENP7_ENST00000348610.3_Missense_Mutation_p.G728V|SENP7_ENST00000394094.2_Missense_Mutation_p.G696V|SENP7_ENST00000314261.7_Missense_Mutation_p.G695V|SENP7_ENST00000394091.1_Missense_Mutation_p.G597V|SENP7_ENST00000358203.3_Missense_Mutation_p.G597V NM_020654.3 NP_065705.3 Q9BQF6 SENP7_HUMAN SUMO1/sentrin specific peptidase 7 761 Protease. proteolysis nucleus cysteine-type peptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 ATTAGTTACTCCTAATCCCCC 0.303000 5 34 8.12818e-05 9.91291e-05 1 1 0 ADAM12 8038 broad.mit.edu 37 10 127755359 127755359 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:127755359C>A ENST00000368679.4 - 13 1658 c.1349G>T c.(1348-1350)tGc>tTc p.C450F ADAM12_ENST00000467145.1_5'UTR|ADAM12_ENST00000368676.4_Missense_Mutation_p.C450F NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 450 Disintegrin. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) GGCATTGCAGCAGCGATTCAT 0.522000 7 39 8.12818e-05 9.91291e-05 1 1 0 APOB 338 broad.mit.edu 37 2 21230450 21230450 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:21230450T>C ENST00000233242.1 - 26 9417 c.9290A>G c.(9289-9291)aAg>aGg p.K3097R NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3097 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) TTGGTTGTACTTATACTGATT 0.398000 34 112 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207748993 207748993 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:207748993C>A ENST00000367049.4 + 28 4505 c.4505C>A c.(4504-4506)gCc>gAc p.A1502D RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.A1052D|CR1_ENST00000367051.1_Missense_Mutation_p.A1052D|CR1_ENST00000367052.1_Missense_Mutation_p.A1052D|CR1_ENST00000400960.2_Missense_Mutation_p.A1052D NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1052 Sushi 23. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GGCAATACTGCCCATTGGAGC 0.443000 73 273 1.8615e-32 3.85021e-32 1 1 0 VCAN 1462 broad.mit.edu 37 5 82835668 82835668 + Silent SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:82835668A>G ENST00000265077.3 + 8 7411 c.6846A>G c.(6844-6846)acA>acG p.T2282T VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Silent_p.T1295T|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2282 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TCAATAACACATTATATCCCC 0.388000 11 77 0 0 1 0 0 MEIS2 4212 broad.mit.edu 37 15 37188828 37188828 + Splice_Site SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:37188828C>A ENST00000338564.5 - 11 1483 c.e11+1 MEIS2_ENST00000444725.1_Splice_Site|MEIS2_ENST00000561208.1_Splice_Site|MEIS2_ENST00000382766.2_Splice_Site|MEIS2_ENST00000559085.1_Splice_Site|MEIS2_ENST00000340545.5_Splice_Site|MEIS2_ENST00000424352.2_Splice_Site|MEIS2_ENST00000397620.2_Splice_Site|MEIS2_ENST00000397624.3_Splice_Site|MEIS2_ENST00000559408.1_Splice_Site|MEIS2_ENST00000559561.1_Splice_Site|MEIS2_ENST00000219869.9_Splice_Site|MEIS2_ENST00000557796.2_Splice_Site NM_001220482.1 NP_001207411.1 O14770 MEIS2_HUMAN Meis homeobox 2 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) TTGGAACTTGCCTGCTCGATT 0.403000 12 96 1.49906e-05 1.92643e-05 1 1 0 RPGRIP1 57096 broad.mit.edu 37 14 21793437 21793437 + Silent SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:21793437G>C ENST00000206660.6 + 15 2262 c.2262G>C c.(2260-2262)ctG>ctC p.L754L RPGRIP1_ENST00000557771.1_Silent_p.L716L|RPGRIP1_ENST00000307974.4_Silent_p.L113L|RPGRIP1_ENST00000400017.2_Silent_p.L754L|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000553500.1_3'UTR Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 754 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) GGATGAGGCTGCGTTTCCCCA 0.542000 4 35 0 0 1 0 0 BCAN 63827 broad.mit.edu 37 1 156621281 156621281 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:156621281C>G ENST00000329117.4 + 7 1433 c.1097C>G c.(1096-1098)tCc>tGc p.S366C BCAN_ENST00000361588.5_Missense_Mutation_p.S366C|RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 366 cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCTGAGgcctccaacccagcc 0.587000 6 58 0 0 1 0 0 HNRNPA3 220988 broad.mit.edu 37 2 178080811 178080811 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:178080811G>T ENST00000411529.2 + 4 433 c.382G>T c.(382-384)Ggc>Tgc p.G128C HNRNPA3_ENST00000392524.2_Missense_Mutation_p.G150C|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.G150C NM_194247.2 NP_919223.1 P51991 ROA3_HUMAN heterogeneous nuclear ribonucleoprotein A3 150 RRM 2. catalytic step 2 spliceosome|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1) 16 TGAAAAGTATGGCAAGATTGA 0.333000 10 45 1.58986e-06 2.19736e-06 1 1 0 POTEF 728378 broad.mit.edu 37 2 130877917 130877917 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:130877917T>A ENST00000357462.5 - 1 265 c.172A>T c.(172-174)Agg>Tgg p.R58W POTEF_ENST00000409914.2_Missense_Mutation_p.R58W|POTEF_ENST00000360967.5_Missense_Mutation_p.R58W|POTEF_ENST00000361163.4_Missense_Mutation_p.R58W A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 58 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 ATCTTGCTCCTGAGTGTCTTC 0.617000 44 323 0 0 1 0 0 TCTN2 79867 broad.mit.edu 37 12 124191287 124191287 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:124191287A>T ENST00000303372.5 + 16 1912 c.1784A>T c.(1783-1785)aAc>aTc p.N595I TCTN2_ENST00000426174.2_Missense_Mutation_p.N594I NM_001143850.2|NM_024809.4 NP_001137322.1|NP_079085.2 Q96GX1 TECT2_HUMAN tectonic family member 2 595 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) TCCTCAGTGAACTGGCAGTAC 0.488000 21 82 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78262066 78262066 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:78262066C>T ENST00000582970.1 + 4 857 c.714C>T c.(712-714)gcC>gcT p.A238A RNF213_ENST00000508628.2_Silent_p.A287A|RNF213_ENST00000456466.1_Silent_p.A238A|RNF213_ENST00000319921.4_Silent_p.A238A NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 238 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) AAGATGCTGCCCAGGAGCTCC 0.632000 11 89 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189526160 189526160 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:189526160A>T ENST00000264731.3 + 4 513 c.424A>T c.(424-426)Agc>Tgc p.S142C TP63_ENST00000437221.1_Missense_Mutation_p.S48C|TP63_ENST00000456148.1_Missense_Mutation_p.S48C|TP63_ENST00000392460.3_Missense_Mutation_p.S142C|TP63_ENST00000320472.5_Missense_Mutation_p.S142C|TP63_ENST00000440651.2_Missense_Mutation_p.S142C|TP63_ENST00000449992.1_Intron|TP63_ENST00000354600.5_Missense_Mutation_p.S48C|TP63_ENST00000418709.2_Missense_Mutation_p.S142C|TP63_ENST00000382063.4_Intron|TP63_ENST00000392463.2_Missense_Mutation_p.S48C|TP63_ENST00000392461.3_Missense_Mutation_p.S48C NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 142 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CGCGCAGAACAGCGTCACGGC 0.627000 HNSCC(45;0.13) 11 81 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33957209 33957209 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:33957209G>T ENST00000361328.3 + 6 1504 c.1351G>T c.(1351-1353)Gca>Tca p.A451S ZSCAN20_ENST00000373413.2_Missense_Mutation_p.A397S NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 451 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) TGAAGAAATGGCAGAAGACTG 0.582000 14 96 2.48551e-13 4.61327e-13 1 1 0 INTS6-AS1 100507398 broad.mit.edu 37 13 52035424 52035424 + RNA SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr13:52035424A>G ENST00000594959.1 + 0 411 INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000595435.1_RNA GAGAGACAAAAGACTGCCAAA 0.408000 3 35 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149502645 149502645 + RNA SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:149502645G>T ENST00000378016.2 + 0 8458 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CACCCAGGAGGAGCCCTGCAG 0.667000 7 46 0.00307968 0.00344432 1 1 0 KIAA1211 57482 broad.mit.edu 37 4 57182773 57182773 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:57182773G>T ENST00000504228.1 + 6 3210 c.3105G>T c.(3103-3105)gcG>gcT p.A1035A KIAA1211_ENST00000541073.1_Silent_p.A1028A|KIAA1211_ENST00000264229.6_Silent_p.A1035A Q6ZU35 K1211_HUMAN KIAA1211 1035 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) AGGAAGAGGCGACAGAGAGGA 0.632000 4 19 0.00909568 0.00987474 1 1 0 DNM1 1759 broad.mit.edu 37 9 131004603 131004603 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:131004603G>T ENST00000341179.7 + 15 1742 c.1650G>T c.(1648-1650)ctG>ctT p.L550L DNM1_ENST00000475805.1_Silent_p.L550L|DNM1_ENST00000372923.3_Silent_p.L550L|DNM1_ENST00000486160.1_Silent_p.L550L|DNM1_ENST00000393594.3_Silent_p.L550L|DNM1_ENST00000493925.1_3'UTR NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 550 PH. receptor-mediated endocytosis microtubule GTP binding|GTPase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 CTGAGAATCTGTCCTGGTACA 0.552000 5 32 1.23904e-05 1.602e-05 1 1 0 SLC4A10 57282 broad.mit.edu 37 2 162760562 162760562 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:162760562C>A ENST00000375514.5 + 13 1721 c.1434C>A c.(1432-1434)ttC>ttA p.F478L SLC4A10_ENST00000446997.1_Missense_Mutation_p.F497L|SLC4A10_ENST00000421911.1_Missense_Mutation_p.F497L|SLC4A10_ENST00000415876.2_Missense_Mutation_p.F467L|SLC4A10_ENST00000272716.5_Missense_Mutation_p.F467L|SLC4A10_ENST00000535165.1_3'UTR NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 497 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 CTCCATACTTCTGGAGTGACT 0.413000 5 15 0.000602214 0.000697722 1 1 0 SLTM 79811 broad.mit.edu 37 15 59172239 59172239 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:59172239C>A ENST00000380516.2 - 21 3151 c.3064G>T c.(3064-3066)Gga>Tga p.G1022* SLTM_ENST00000536328.1_Nonsense_Mutation_p.G591* NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 1022 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GGCTTAAATCCGGAGCCACTT 0.383000 8 70 0.000442599 0.000519695 1 1 0 OR2T4 127074 broad.mit.edu 37 1 248525838 248525838 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:248525838C>T ENST00000366475.1 + 1 956 c.956C>T c.(955-957)cCt>cTt p.P319L NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 319 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTGGTGAACCCTTTAATCTAT 0.458000 43 199 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15928159 15928159 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:15928159C>A ENST00000504595.1 + 3 769 c.288C>A c.(286-288)ctC>ctA p.L96L FBXL7_ENST00000510662.1_Silent_p.L49L|FBXL7_ENST00000329673.7_Silent_p.L84L NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 96 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 CGACCCGCCTCACACACCCGC 0.652000 5 35 0.014758 0.0158251 1 1 0 ACTL8 81569 broad.mit.edu 37 1 18152504 18152504 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:18152504C>G ENST00000375406.1 + 3 807 c.591C>G c.(589-591)tgC>tgG p.C197W NM_030812.2 NP_110439.2 Q9H568 ACTL8_HUMAN actin-like 8 197 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) ATAGACGCTGCCTGTTTCAGC 0.592000 OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 29 0 0 1 0 0 TRAV17 28666 broad.mit.edu 37 14 22466256 22466256 + RNA SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:22466256C>A ENST00000390445.2 + 0 333 CAGGTAGAGGCCTTGTCCACC 0.398000 11 68 0.000978159 0.00112538 1 1 0 LGALSL 29094 broad.mit.edu 37 2 64685537 64685537 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:64685537A>G ENST00000238875.5 + 5 948 c.494A>G c.(493-495)gAc>gGc p.D165G LGALSL_ENST00000409537.2_3'UTR NM_014181.2 NP_054900.2 Q3ZCW2 LEGL_HUMAN lectin, galactoside-binding-like 165 Galectin. intracellular sugar binding ATAAATGGAGACCTCCAGATC 0.428000 18 169 0 0 1 0 0 OR4C16 219428 broad.mit.edu 37 11 55339996 55339996 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:55339996G>T ENST00000314634.3 + 1 393 c.393G>T c.(391-393)atG>atT p.M131I NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) TGCACTACATGACCATCATAA 0.498000 29 171 3.65163e-15 6.9966e-15 1 1 0 EDEM2 55741 broad.mit.edu 37 20 33703723 33703723 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:33703723C>A ENST00000374492.3 - 11 1355 c.1250G>T c.(1249-1251)cGa>cTa p.R417L EDEM2_ENST00000541621.1_Missense_Mutation_p.R196L|EDEM2_ENST00000542871.1_Missense_Mutation_p.R141L|EDEM2_ENST00000374491.2_Missense_Mutation_p.R380L NM_018217.2 NP_060687.2 Q9BV94 EDEM2_HUMAN ER degradation enhancer, mannosidase alpha-like 2 417 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 22 BRCA - Breast invasive adenocarcinoma(18;0.00936) CTTGTGGTCTCGCAGATCTTT 0.488000 12 58 0.0167234 0.0179067 1 1 0 UBA6 55236 broad.mit.edu 37 4 68484845 68484845 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:68484845T>C ENST00000322244.4 - 33 3088 c.3029A>G c.(3028-3030)cAt>cGt p.H1010R NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 1010 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 TACAAGTTTATGCATTCTAAG 0.348000 12 80 0 0 1 0 0 OR2B11 127623 broad.mit.edu 37 1 247615100 247615100 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:247615100G>C ENST00000318749.6 - 1 208 c.185C>G c.(184-186)cCc>cGc p.P62R NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P62H(1)|p.P62Q(1) endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GATGTACATGGGGCTGTGGAG 0.577000 15 162 0 0 1 0 0 ANKRD26 22852 broad.mit.edu 37 10 27389173 27389173 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:27389173C>A ENST00000376087.4 - 1 248 c.83G>T c.(82-84)gGc>gTc p.G28V ANKRD26_ENST00000436985.2_Missense_Mutation_p.G28V NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 28 Poly-Gly. centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 CCCCGGCTCGCCCCCGCCTCC 0.667000 11 71 5.50884e-06 7.26833e-06 1 1 0 GUCY1A2 2977 broad.mit.edu 37 11 106810812 106810812 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:106810812C>A ENST00000526355.1 - 4 1048 c.580G>T c.(580-582)Ggc>Tgc p.G194C GUCY1A2_ENST00000347596.2_Missense_Mutation_p.G194C|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.G194C NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 194 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) TGCAAAGTGCCACCTACAGCT 0.393000 18 106 3.51602e-12 6.30502e-12 1 1 0 CWC25 54883 broad.mit.edu 37 17 36963205 36963205 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:36963205C>G ENST00000225428.4 - 7 1012 c.715G>C c.(715-717)Ggt>Cgt p.G239R CWC25_ENST00000536127.1_Missense_Mutation_p.G176R NM_017748.3 NP_060218.1 Q9NXE8 CWC25_HUMAN CWC25 spliceosome-associated protein homolog (S. cerevisiae) 239 central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 14 CCCTGAAGACCCTGGTTACGG 0.512000 5 55 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127729049 127729049 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:127729049C>A ENST00000508053.1 - 16 2218 c.1244G>T c.(1243-1245)aGa>aTa p.R415I FBN2_ENST00000508989.1_Missense_Mutation_p.R382I|FBN2_ENST00000262464.4_Missense_Mutation_p.R415I P35556 FBN2_HUMAN fibrillin 2 415 TB 2. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.R415K(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CATGCAAAGTCTGCGATATTC 0.478000 12 57 3.07112e-06 4.13291e-06 1 1 0 RELN 5649 broad.mit.edu 37 7 103206706 103206706 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:103206706G>A ENST00000424685.2 - 33 5060 c.4901C>T c.(4900-4902)tCt>tTt p.S1634F RELN_ENST00000428762.1_Missense_Mutation_p.S1634F|RELN_ENST00000343529.5_Missense_Mutation_p.S1634F P78509 RELN_HUMAN reelin 1634 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AGTATCCATAGAGAGACAGTC 0.353000 24 70 0 0 1 0 0 GPR128 84873 broad.mit.edu 37 3 100373991 100373991 + Silent SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:100373991G>C ENST00000273352.3 + 12 1960 c.1692G>C c.(1690-1692)cgG>cgC p.R564R GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Silent_p.R269R NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 564 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 CTCTTCCTCGGCATTTCATTC 0.388000 19 118 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 113965955 113965955 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:113965955C>T ENST00000276198.1 + 4 1016 c.288C>T c.(286-288)gcC>gcT p.A96A HTR2C_ENST00000371950.3_Silent_p.A96A|HTR2C_ENST00000371951.1_Silent_p.A96A NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 96 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) TGTCCCTAGCCATTGCTGATA 0.398000 22 93 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871975 51871975 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:51871975G>T ENST00000371497.5 + 2 2865 c.1978G>T c.(1978-1980)Gag>Tag p.E660* TSHZ2_ENST00000329613.6_Nonsense_Mutation_p.E657*|TSHZ2_ENST00000603338.2_Nonsense_Mutation_p.E657* NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 660 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E660Q(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) GCTGATGAAAGAGGGCAGCGA 0.597000 10 63 2.17888e-05 2.77601e-05 1 1 0 OR2W5 441932 broad.mit.edu 37 1 247655204 247655204 + RNA SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:247655204G>T ENST00000522351.1 + 0 835 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TCATCTACGTGTACCTGAAGC 0.522000 41 130 3.61848e-18 7.18367e-18 1 1 0 RPS6KC1 26750 broad.mit.edu 37 1 213303156 213303156 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:213303156G>T ENST00000366960.3 + 6 909 c.759G>T c.(757-759)aaG>aaT p.K253N RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Intron|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.K72N|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.K241N NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 253 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) CTTTAAAAAAGGAAGAAGAAG 0.383000 16 83 6.31663e-08 9.6374e-08 1 1 0 MMP11 4320 broad.mit.edu 37 22 24123440 24123440 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr22:24123440G>T ENST00000215743.3 + 6 971 c.919G>T c.(919-921)Gag>Tag p.E307* NM_005940.3 NP_005931.2 P24347 MMP11_HUMAN matrix metallopeptidase 11 (stromelysin 3) 307 Hemopexin-like 1. collagen catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 27 Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318) CATCCGAGGCGAGCTCTTTTT 0.652000 14 72 3.27435e-08 5.04244e-08 1 1 0 OR5T1 390155 broad.mit.edu 37 11 56043668 56043668 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:56043668A>T ENST00000313033.2 + 1 640 c.554A>T c.(553-555)gAa>gTa p.E185V NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) GGATCCAATGAAATTAGGCAT 0.408000 37 239 0 0 1 0 0 CATSPER1 117144 broad.mit.edu 37 11 65793385 65793385 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:65793385C>A ENST00000312106.5 - 1 603 c.466G>T c.(466-468)Ggt>Tgt p.G156C NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 156 His-rich. cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 AAATTCTCACCGAGATATTGG 0.567000 5 59 0.000602214 0.000697722 1 1 0 SLITRK1 114798 broad.mit.edu 37 13 84455166 84455166 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr13:84455166G>T ENST00000377084.2 - 1 1362 c.477C>A c.(475-477)ctC>ctA p.L159L NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 159 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CATTTAAAATGAGCACCTCCA 0.507000 14 78 1.5842e-08 2.49402e-08 1 1 0 MAPK8IP3 23162 broad.mit.edu 37 16 1798333 1798333 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:1798333C>T ENST00000250894.4 + 7 1237 c.1080C>T c.(1078-1080)gaC>gaT p.D360D MAPK8IP3_ENST00000568271.1_3'UTR|MAPK8IP3_ENST00000356010.5_Silent_p.D360D NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 360 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 CCCGCCTGGACCGCACAGGAA 0.582000 9 31 0 0 1 0 0 MAPK12 6300 broad.mit.edu 37 22 50696672 50696672 + Splice_Site SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr22:50696672A>T ENST00000215659.8 - 3 629 c.314_splice c.e3+1 p.F105_splice MAPK12_ENST00000395778.3_Splice_Site_p.L105_splice|MAPK12_ENST00000395780.1_Splice_Site_p.F25_splice|MAPK12_ENST00000497036.1_5'UTR NM_002969.3 NP_002960.2 P53778 MK12_HUMAN mitogen-activated protein kinase 12 105 Protein kinase. cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction mitochondrion|nucleoplasm ATP binding|magnesium ion binding|MAP kinase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CGGCACTCACAAGTCCGTGAA 0.607000 4 54 0 0 1 0 0 FOXJ2 55810 broad.mit.edu 37 12 8197366 8197366 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:8197366C>A ENST00000162391.3 + 6 1774 c.629C>A c.(628-630)tCt>tAt p.S210Y FOXJ2_ENST00000428177.2_Missense_Mutation_p.S210Y NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 210 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) GGCACAGGATCTGTGGATGGT 0.527000 25 103 6.36457e-07 9.10189e-07 1 1 0 PPP5C 5536 broad.mit.edu 37 19 46857126 46857126 + Silent SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:46857126G>C ENST00000012443.4 + 2 346 c.243G>C c.(241-243)gcG>gcC p.A81A PPP5C_ENST00000391919.1_5'UTR NM_006247.3 NP_006238.1 P53041 PPP5_HUMAN protein phosphatase 5, catalytic subunit 81 mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent Golgi apparatus|nucleus metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1) 18 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504) ATGGCTACGCGCTGGGAGACG 0.602000 5 12 0 0 1 0 0 CHRM5 1133 broad.mit.edu 37 15 34355426 34355426 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:34355426C>A ENST00000383263.5 + 3 1178 c.508C>A c.(508-510)Cag>Aag p.Q170K CHRM5_ENST00000557872.1_Missense_Mutation_p.Q170K NM_012125.3 NP_036257.1 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 170 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) CCTCTGCTGGCAGTACTTGGT 0.552000 32 150 1.7881e-09 2.92043e-09 1 1 0 TBR1 10716 broad.mit.edu 37 2 162273325 162273325 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:162273325C>A ENST00000389554.3 + 1 721 c.404C>A c.(403-405)cCc>cAc p.P135H NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 135 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 CCGGCGCACCCCGCCTTCTCC 0.667000 32 132 5.09552e-08 7.79841e-08 1 1 0 OR2L3 391192 broad.mit.edu 37 1 248224509 248224509 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:248224509T>A ENST00000359959.3 + 1 526 c.526T>A c.(526-528)Ttc>Atc p.F176I OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 176 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) CATCAATCATTTCTTCTGTGA 0.473000 44 155 0 0 1 0 0 F12 2161 broad.mit.edu 37 5 176831522 176831522 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:176831522G>T ENST00000253496.3 - 8 826 c.778C>A c.(778-780)Ctg>Atg p.L260M NM_000505.3 NP_000496.2 P00748 FA12_HUMAN coagulation factor XII (Hageman factor) 260 Kringle. Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation extracellular space|plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 12 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGCCGCCCAGTCCCCAGTTC 0.756000 Hereditary Angioedema OREG0017088 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 6 1 1 1 1 0 KIF4B 285643 broad.mit.edu 37 5 154394946 154394946 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:154394946C>T ENST00000435029.4 + 1 1687 c.1527C>T c.(1525-1527)gaC>gaT p.D509D NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 509 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) GGTCTTCTGACGCTTTTACCA 0.483000 20 91 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 240976921 240976921 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:240976921G>T ENST00000366565.1 - 13 1334 c.953C>A c.(952-954)gCa>gAa p.A318E RGS7_ENST00000348120.2_Missense_Mutation_p.A265E|RGS7_ENST00000407727.1_Missense_Mutation_p.A318E|RGS7_ENST00000366562.4_Missense_Mutation_p.A318E|RGS7_ENST00000331110.7_Missense_Mutation_p.A292E|RGS7_ENST00000446183.2_Missense_Mutation_p.A234E|RGS7_ENST00000366563.1_Missense_Mutation_p.A318E|RGS7_ENST00000366564.1_Missense_Mutation_p.A318E|RGS7_ENST00000401882.1_Missense_Mutation_p.A265E NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 318 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) CACCTACCTTGCCTCAAGTTC 0.428000 12 43 9.31168e-06 1.22314e-05 1 1 0 RYR2 6262 broad.mit.edu 37 1 237730017 237730017 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:237730017G>T ENST00000366574.2 + 28 3682 c.3365G>T c.(3364-3366)tGt>tTt p.C1122F RYR2_ENST00000360064.6_Missense_Mutation_p.C1120F|RYR2_ENST00000542537.1_Missense_Mutation_p.C1106F NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1122 4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding 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) CGTCCTGGTTGTCAACCGGAT 0.537000 28 275 1.08052e-11 1.90536e-11 1 1 0 PRSS37 136242 broad.mit.edu 37 7 141536288 141536288 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:141536288G>A ENST00000350549.3 - 5 986 c.615C>T c.(613-615)atC>atT p.I205I PRSS37_ENST00000438520.1_Silent_p.I205I NM_001008270.2|NM_001171951.1 NP_001008271.2|NP_001165422.1 A4D1T9 PRS37_HUMAN protease, serine, 37 205 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3) 15 GCCCCACCTCGATTCCCTGGA 0.502000 12 80 0 0 1 0 0 PCDH7 5099 broad.mit.edu 37 4 30726139 30726139 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:30726139G>C ENST00000361762.2 + 1 4103 c.3095G>C c.(3094-3096)gGa>gCa p.G1032A PCDH7_ENST00000543491.1_Missense_Mutation_p.G1032A NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 1032 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 ACATTTGTGGGAGCAGGAGAC 0.448000 13 61 0 0 1 0 0 OR5M11 219487 broad.mit.edu 37 11 56310102 56310102 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:56310102G>T ENST00000528616.2 - 1 655 c.632C>A c.(631-633)aCc>aAc p.T211N NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 CAAGACGATGGTGAGGGAGCT 0.502000 7 70 0.0293803 0.0309453 1 1 0 AGGF1 55109 broad.mit.edu 37 5 76359005 76359005 + Silent SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:76359005A>G ENST00000312916.7 + 14 2455 c.2073A>G c.(2071-2073)gaA>gaG p.E691E NM_018046.4 NP_060516.2 Q8N302 AGGF1_HUMAN angiogenic factor with G patch and FHA domains 1 691 angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 20 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) GGTTTACTGAAAACTTCCCAG 0.433000 27 132 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14291249 14291249 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:14291249G>T ENST00000344204.4 + 5 989 c.965G>T c.(964-966)cGg>cTg p.R322L TRIO_ENST00000509967.2_Missense_Mutation_p.R273L|TRIO_ENST00000537187.1_Missense_Mutation_p.R322L NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 322 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) CACTCGACACGGCAGCATCTG 0.557000 12 65 1.5842e-08 2.49402e-08 1 1 0 MAGEB10 139422 broad.mit.edu 37 X 27839625 27839625 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:27839625C>A ENST00000356790.2 + 3 447 c.202C>A c.(202-204)Caa>Aaa p.Q68K NM_182506.3 NP_872312.2 Q96LZ2 MAGBA_HUMAN melanoma antigen family B, 10 68 Q -> R (in Ref. 1; BAB71522). NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 TCGGGAAGCCCAATCCACCAG 0.502000 5 28 0.217242 0.220363 1 1 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77510182 77510182 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:77510182C>A ENST00000477717.1 + 3 790 c.555C>A c.(553-555)gtC>gtA p.V185V NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 185 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 AGGGCCAGGTCTACAACAACC 0.602000 15 134 7.93312e-07 1.11515e-06 1 1 0 BNC1 646 broad.mit.edu 37 15 83932667 83932667 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:83932667T>A ENST00000345382.2 - 4 1421 c.1336A>T c.(1336-1338)Acg>Tcg p.T446S BNC1_ENST00000569704.1_Missense_Mutation_p.T439S|RP11-382A20.4_ENST00000565495.1_RNA NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 446 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 TCTGGGGACGTCACTGTGAAA 0.532000 6 89 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151165546 151165546 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:151165546C>A ENST00000282466.3 - 4 2222 c.2223G>T c.(2221-2223)agG>agT p.R741S NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 741 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GGAAATGCCTCCTATTCTCCC 0.463000 9 65 0.000442599 0.000519695 1 1 0 DCAF12L2 340578 broad.mit.edu 37 X 125299009 125299009 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:125299009G>T ENST00000538699.1 - 2 979 c.899C>A c.(898-900)tCc>tAc p.S300Y DCAF12L2_ENST00000360028.2_Missense_Mutation_p.S300Y NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 300 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 CAGCCTGATGGACAGGAGCCT 0.602000 18 117 3.32936e-07 4.81232e-07 1 1 0 VPS16 64601 broad.mit.edu 37 20 2841419 2841419 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:2841419G>T ENST00000380445.3 + 6 612 c.540G>T c.(538-540)tgG>tgT p.W180C VPS16_ENST00000380469.3_Missense_Mutation_p.W180C NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 180 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 CCTCCTGCTGGACTGTGCTGT 0.577000 10 32 7.48243e-07 1.05882e-06 1 1 0 CAPSL 133690 broad.mit.edu 37 5 35921198 35921198 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:35921198G>T ENST00000397367.2 - 2 151 c.25C>A c.(25-27)Cga>Aga p.R9R CAPSL_ENST00000514524.1_Silent_p.R9R|CAPSL_ENST00000397366.1_Silent_p.R9R NM_144647.3 NP_653248.3 Q8WWF8 CAPSL_HUMAN calcyphosine-like 9 cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) GCCATCTCTCGGTCATGGCGC 0.612000 6 40 5.9392e-07 8.50177e-07 1 1 0 NUCB2 4925 broad.mit.edu 37 11 17316912 17316912 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:17316912G>A ENST00000529010.1 + 3 261 c.42G>A c.(40-42)ttG>ttA p.L14L NUCB2_ENST00000458064.2_Silent_p.L14L|NUCB2_ENST00000323688.6_Silent_p.L14L NM_005013.2 NP_005004.1 P80303 NUCB2_HUMAN nucleobindin 2 14 cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane calcium ion binding|DNA binding kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 GCTTTCTCTTGATTACATGTT 0.363000 30 172 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21606084 21606084 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:21606084C>A ENST00000281523.2 - 3 776 c.258G>T c.(256-258)caG>caT p.Q86H ZNF385D-AS1_ENST00000412369.1_RNA|ZNF385D_ENST00000494118.1_5'UTR NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 86 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 TAAATCTCAACTGGCAAATGT 0.343000 8 60 3.09899e-07 4.50568e-07 1 1 0 DET1 55070 broad.mit.edu 37 15 89079563 89079563 + Translation_Start_Site SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:89079563C>A ENST00000564406.1 - 2 163 c.3G>T c.(1-3)atG>atT p.M1I DET1_ENST00000558413.1_Intron|DET1_ENST00000559656.1_Intron|DET1_ENST00000444300.1_Start_Codon_SNP_p.M1I|DET1_ENST00000268148.8_Intron NM_017996.3 NP_060466.2 Q7L5Y6 DET1_HUMAN de-etiolated homolog 1 (Arabidopsis) 0 nucleus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) tctgtcccaccataccagaga 0.378000 3 15 0.00909568 0.00987474 1 1 0 OR10K1 391109 broad.mit.edu 37 1 158435410 158435410 + Missense_Mutation SNP T T G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:158435410T>G ENST00000289451.2 + 1 139 c.59T>G c.(58-60)cTg>cGg p.L20R NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) TTCTCATCCCTGGCCAGGCTG 0.507000 9 117 0 0 1 0 0 DPYSL2 1808 broad.mit.edu 37 8 26484796 26484796 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:26484796C>A ENST00000311151.5 + 6 1018 c.606C>A c.(604-606)ggC>ggA p.G202G DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000523027.1_Silent_p.G166G|DPYSL2_ENST00000521913.1_Silent_p.G166G NM_001386.5 NP_001377.1 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 202 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding p.G202G(2) breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1) 20 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) CAGAAAATGGCGACATCATTG 0.498000 9 33 7.48243e-07 1.05882e-06 1 1 0 ZNF117 51351 broad.mit.edu 37 7 64439642 64439642 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:64439642G>A ENST00000282869.5 - 4 1591 c.307C>T c.(307-309)Cat>Tat p.H103Y NM_015852.3 NP_056936.2 Q03924 ZN117_HUMAN zinc finger protein 117 103 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1) 22 Lung NSC(55;0.0295)|all_lung(88;0.0691) TTTTCAGTATGTCTCATCTTG 0.269000 7 23 0 0 1 0 0 ZNF750 79755 broad.mit.edu 37 17 80789901 80789901 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:80789901C>A ENST00000269394.3 - 2 1263 c.430G>T c.(430-432)Gaa>Taa p.E144* TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 144 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGGGCGGCTTCCGGAGCTGGG 0.647000 13 38 1.49906e-05 1.92643e-05 1 1 0 FNDC3B 64778 broad.mit.edu 37 3 172080423 172080423 + Splice_Site SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:172080423G>C ENST00000336824.4 + 23 2895 c.2795_splice c.e23-1 p.R932_splice FNDC3B_ENST00000415807.2_Splice_Site_p.R932_splice|FNDC3B_ENST00000416957.1_Splice_Site_p.R932_splice NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 932 Fibronectin type-III 7. endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) CTTTCTCTAGGATCAGAATTC 0.368000 24 86 0 0 1 0 0 GANAB 23193 broad.mit.edu 37 11 62398635 62398635 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:62398635C>T ENST00000346178.4 - 11 1098 c.1083G>A c.(1081-1083)atG>atA p.M361I GANAB_ENST00000356638.3_Missense_Mutation_p.M339I|GANAB_ENST00000534779.1_Missense_Mutation_p.M247I|GANAB_ENST00000540933.1_Missense_Mutation_p.M242I NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 339 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 GCAGGTAGTCCATCATCTTCC 0.532000 36 298 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6145947 6145947 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:6145947C>A ENST00000264870.3 - 15 2369 c.2104G>T c.(2104-2106)Ggg>Tgg p.G702W NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 702 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TTCCGATGCCCAGAGACCCAG 0.547000 30 90 3.69857e-22 7.52397e-22 1 1 0 IARS 3376 broad.mit.edu 37 9 95012222 95012222 + Splice_Site SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:95012222T>C ENST00000375643.3 - 25 2800 c.2532_splice c.e25-1 p.Y845_splice IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Splice_Site_p.Y845_splice|IARS_ENST00000447699.2_Splice_Site_p.Y735_splice NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 845 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) TTTCAAAGGATACTAGGAGGA 0.363000 32 146 0 0 1 0 0 ZNF202 7753 broad.mit.edu 37 11 123601240 123601240 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:123601240C>T ENST00000336139.4 - 3 719 c.357G>A c.(355-357)acG>acA p.T119T ZNF202_ENST00000530393.1_Silent_p.T119T|ZNF202_ENST00000529691.1_Silent_p.T119T O95125 ZN202_HUMAN zinc finger protein 202 119 SCAN box. lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) CCTCCACCAGCGTCACTGCCT 0.577000 18 103 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152558069 152558069 + Silent SNP C C A rs61729925 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:152558069C>A ENST00000367255.5 - 109 20683 c.20082G>T c.(20080-20082)ctG>ctT p.L6694L SYNE1_ENST00000265368.4_Silent_p.L6694L|SYNE1_ENST00000423061.1_Silent_p.L6623L|SYNE1_ENST00000448038.1_Silent_p.L6623L|SYNE1_ENST00000356820.4_Silent_p.L1218L|SYNE1_ENST00000341594.5_Silent_p.L6306L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6694 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GGTCCTCATCCAGATGGGACC 0.517000 HNSCC(10;0.0054) 4 36 0.00024832 0.000296266 1 1 0 SLC14A1 6563 broad.mit.edu 37 18 43316485 43316485 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:43316485C>A ENST00000321925.4 + 6 767 c.535C>A c.(535-537)Cct>Act p.P179T RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000535474.1_Missense_Mutation_p.P47T|SLC14A1_ENST00000415427.3_Missense_Mutation_p.P235T|SLC14A1_ENST00000591943.1_Intron|SLC14A1_ENST00000402943.2_Missense_Mutation_p.P74T|SLC14A1_ENST00000586142.1_Missense_Mutation_p.P179T|SLC14A1_ENST00000436407.3_Missense_Mutation_p.P235T|SLC14A1_ENST00000589700.1_Missense_Mutation_p.P179T|SLC14A1_ENST00000502059.2_Missense_Mutation_p.P71T|RP11-116O18.3_ENST00000589510.1_RNA NM_001128588.3|NM_001146036.2|NM_015865.6 NP_001122060.3|NP_001139508.2|NP_056949.4 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 179 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 CTTCACCCTCCCTTTCAACAT 0.428000 15 112 4.7546e-09 7.61455e-09 1 1 0 SCARA3 51435 broad.mit.edu 37 8 27516099 27516099 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:27516099G>T ENST00000301904.3 + 5 432 c.412G>T c.(412-414)Gga>Tga p.G138* SCARA3_ENST00000337221.4_Nonsense_Mutation_p.G138* NM_016240.2 NP_057324.2 Q6AZY7 SCAR3_HUMAN scavenger receptor class A, member 3 138 response to oxidative stress|UV protection collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane scavenger receptor activity breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 9 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148) GGAGCTGGAGGGAATTCAGAA 0.572000 23 104 2.98393e-07 4.35548e-07 1 1 0 LINC00922 283867 broad.mit.edu 37 16 65345347 65345347 + RNA SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:65345347C>G ENST00000569736.1 - 0 788 RP11-256I9.3_ENST00000562656.1_lincRNA NR_027755.1 TGCCTGGAAGCCCATGCCTTC 0.438000 11 117 0 0 1 0 0 CHSY3 337876 broad.mit.edu 37 5 129520436 129520436 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:129520436G>T ENST00000305031.4 + 3 1959 c.1601G>T c.(1600-1602)gGg>gTg p.G534V NM_175856.4 NP_787052.3 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 534 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) CCCATGCACGGGGTGGAGTAC 0.463000 15 65 7.93312e-07 1.11515e-06 1 1 0 FCRL5 83416 broad.mit.edu 37 1 157504641 157504641 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:157504641C>A ENST00000361835.3 - 8 1601 c.1444G>T c.(1444-1446)Gcc>Tcc p.A482S FCRL5_ENST00000368189.3_Missense_Mutation_p.A482S|FCRL5_ENST00000356953.4_Missense_Mutation_p.A482S|FCRL5_ENST00000368190.3_Missense_Mutation_p.A482S|FCRL5_ENST00000368191.3_Missense_Mutation_p.A397S NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 482 Ig-like C2-type 5. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) AAAGTCAGGGCCTCAGCAGAG 0.478000 11 72 0.38729 0.390184 1 1 0 MTERFD1 51001 broad.mit.edu 37 8 97270750 97270750 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:97270750C>A ENST00000523821.1 - 2 288 c.169G>T c.(169-171)Gga>Tga p.G57* MTERFD1_ENST00000287025.3_Nonsense_Mutation_p.G57* Q96E29 MTER1_HUMAN MTERF domain containing 1 57 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion transcription regulatory region DNA binding endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 24 Breast(36;5.16e-05) GTCTTAAATCCCCACTGGAGA 0.438000 17 133 0.000422831 0.000499251 1 1 0 SPTBN2 6712 broad.mit.edu 37 11 66475182 66475182 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:66475182G>A ENST00000533211.1 - 13 1789 c.1458C>T c.(1456-1458)gcC>gcT p.A486A SPTBN2_ENST00000529997.1_Silent_p.A486A|SPTBN2_ENST00000309996.2_Silent_p.A486A O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 486 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CTGCAGCCACGGCGTCCACTG 0.662000 4 53 0 0 1 0 0 DERL1 79139 broad.mit.edu 37 8 124033690 124033690 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:124033690C>A ENST00000259512.4 - 6 803 c.503G>T c.(502-504)gGc>gTc p.G168V DERL1_ENST00000405944.3_Missense_Mutation_p.G168V|DERL1_ENST00000519018.1_Missense_Mutation_p.G68V|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000419562.2_Missense_Mutation_p.G68V|DERL1_ENST00000523036.1_Missense_Mutation_p.G68V NM_001134671.1|NM_024295.4 NP_001128143.1|NP_077271.1 Q9BUN8 DERL1_HUMAN derlin 1 168 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol integral to endoplasmic reticulum membrane MHC class I protein binding|receptor activity p.G168V(2) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 8 Lung NSC(37;1.06e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) CACTTACGAGCCTCCGATGAT 0.353000 17 97 1.99824e-07 2.95452e-07 1 1 0 NFASC 23114 broad.mit.edu 37 1 204943331 204943331 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:204943331C>A ENST00000367172.4 + 13 1632 c.1304C>A c.(1303-1305)cCc>cAc p.P435H NFASC_ENST00000539706.1_Missense_Mutation_p.P446H|NFASC_ENST00000339876.6_Missense_Mutation_p.P435H|NFASC_ENST00000360049.4_Missense_Mutation_p.P446H|NFASC_ENST00000338515.6_Missense_Mutation_p.P435H|NFASC_ENST00000367171.4_Missense_Mutation_p.P435H|NFASC_ENST00000367170.4_Missense_Mutation_p.P435H|NFASC_ENST00000367169.4_Missense_Mutation_p.P435H|NFASC_ENST00000401399.1_Missense_Mutation_p.P435H|NFASC_ENST00000338586.6_Missense_Mutation_p.P435H|NFASC_ENST00000513543.1_Missense_Mutation_p.P446H|NFASC_ENST00000404907.1_Missense_Mutation_p.P446H|NFASC_ENST00000403080.1_Missense_Mutation_p.P435H|NFASC_ENST00000404076.1_Missense_Mutation_p.P429H O94856 NFASC_HUMAN neurofascin 435 Ig-like C2-type 5. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) ATGCTGTCGCCCCGGAACCAG 0.557000 8 19 1.26484e-09 2.07267e-09 1 1 0 PCDHB4 56131 broad.mit.edu 37 5 140503192 140503192 + Missense_Mutation SNP C C A rs147115754 byFrequency TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:140503192C>A ENST00000194152.1 + 1 1612 c.1612C>A c.(1612-1614)Ccg>Acg p.P538T NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 538 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGCGGTTCTCCGGCTTTGAG 0.667000 16 95 1.52009e-12 2.77281e-12 1 1 0 NID1 4811 broad.mit.edu 37 1 236195793 236195793 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:236195793T>C ENST00000264187.6 - 6 1527 c.1445A>G c.(1444-1446)tAt>tGt p.Y482C NID1_ENST00000366595.3_Missense_Mutation_p.Y482C NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 482 Nidogen G2 beta-barrel. cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) AAGCAGAGAATATCCAACGGT 0.512000 14 89 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228433199 228433199 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:228433199G>T ENST00000570156.2 + 13 3917 c.3843G>T c.(3841-3843)gaG>gaT p.E1281D OBSCN_ENST00000422127.1_Missense_Mutation_p.E1189D|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1189D NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 260 Ig-like 13. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TGAGCTGTGAGGTGGCCCAGC 0.602000 11 75 5.50884e-06 7.26833e-06 1 1 0 OR4C46 119749 broad.mit.edu 37 11 51515725 51515725 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:51515725G>T ENST00000328188.1 + 1 444 c.444G>T c.(442-444)atG>atT p.M148I NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 TGGTGTGGATGGGAGGCTTTC 0.458000 23 149 3.10358e-05 3.93722e-05 1 1 0 CDH20 28316 broad.mit.edu 37 18 59221631 59221631 + Silent SNP C C A rs139351388 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:59221631C>A ENST00000262717.4 + 12 2507 c.2109C>A c.(2107-2109)ccC>ccA p.P703P CDH20_ENST00000538374.1_Silent_p.P703P|CDH20_ENST00000536675.2_Silent_p.P703P Q9HBT6 CAD20_HUMAN cadherin 20, type 2 703 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) ACATGCTGCCCGAGATCGAGA 0.687000 22 60 1.96292e-10 3.32308e-10 1 1 0 ASTL 431705 broad.mit.edu 37 2 96789722 96789722 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:96789722A>T ENST00000342380.2 - 9 1162 c.1163T>A c.(1162-1164)cTg>cAg p.L388Q NM_001002036.3 NP_001002036.3 Q6HA08 ASTL_HUMAN astacin-like metallo-endopeptidase (M12 family) 388 proteolysis metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 CACTCCGGCCAGCCAGGACTG 0.637000 11 81 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248309257 248309257 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:248309257C>A ENST00000366476.1 + 1 808 c.808C>A c.(808-810)Cag>Aag p.Q270K NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 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;0.0388) CTCCCCTATGCAGGACAAGCT 0.512000 27 258 1.33986e-20 2.69243e-20 1 1 0 PRSS37 136242 broad.mit.edu 37 7 141536276 141536276 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:141536276G>T ENST00000350549.3 - 5 998 c.627C>A c.(625-627)caC>caA p.H209Q PRSS37_ENST00000438520.1_Missense_Mutation_p.H209Q NM_001008270.2|NM_001171951.1 NP_001008271.2|NP_001165422.1 A4D1T9 PRS37_HUMAN protease, serine, 37 209 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3) 15 CTCCCATGAAGTGCCCCACCT 0.507000 13 85 7.93312e-07 1.11515e-06 1 1 0 LAIR1 3903 broad.mit.edu 37 19 54868182 54868182 + Silent SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:54868182G>C ENST00000391743.3 - 5 727 c.447C>G c.(445-447)ctC>ctG p.L149L LAIR1_ENST00000348231.4_Silent_p.L150L|LAIR1_ENST00000391742.2_Silent_p.L167L|LAIR1_ENST00000313038.6_Silent_p.L160L|LAIR1_ENST00000474878.1_Silent_p.L149L|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000434277.2_Silent_p.L166L Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like receptor 1 167 integral to membrane|plasma membrane protein binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3) 26 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) AGACCCCGATGAGAATATACA 0.507000 13 53 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11581097 11581097 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:11581097C>A ENST00000423059.3 - 6 2022 c.1771G>T c.(1771-1773)Gag>Tag p.E591* NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 591 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GGACCACACTCCTTTCCGTTA 0.478000 HNSCC(18;0.044) 5 47 0.0215528 0.0228632 1 1 0 LVRN 206338 broad.mit.edu 37 5 115319087 115319087 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:115319087C>T ENST00000357872.4 + 2 923 c.799C>T c.(799-801)Cat>Tat p.H267Y AQPEP_ENST00000395528.2_5'UTR NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 267 proteolysis integral to membrane metallopeptidase activity|zinc ion binding AATGATTCATCATCCAAGTTA 0.393000 9 67 0 0 1 0 0 SPAG9 9043 broad.mit.edu 37 17 49198014 49198014 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:49198014C>A ENST00000262013.7 - 1 212 c.4G>T c.(4-6)Gag>Tag p.E2* SPAG9_ENST00000505279.1_Nonsense_Mutation_p.E2*|SPAG9_ENST00000357122.4_Nonsense_Mutation_p.E2* NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 2 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) TCCTCCAGCTCCATGGTGGCA 0.746000 5 10 0.014758 0.0158251 1 1 0 EDNRB 1910 broad.mit.edu 37 13 78492531 78492531 + Missense_Mutation SNP C C A rs142569954 byFrequency TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr13:78492531C>A ENST00000377211.4 - 2 600 c.448G>T c.(448-450)Gcc>Tcc p.A150S EDNRB_ENST00000446573.1_Missense_Mutation_p.A60S|EDNRB_ENST00000475537.1_5'UTR|EDNRB_ENST00000334286.5_Missense_Mutation_p.A60S NM_001201397.1 NP_001188326.1 P24530 EDNRB_HUMAN endothelin receptor type B 60 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3) 42 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) GCCAGACTGGCGTTGGAACCC 0.627000 14 49 1.5842e-08 2.49402e-08 1 1 0 UVSSA 57654 broad.mit.edu 37 4 1373847 1373847 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:1373847G>A ENST00000389851.4 + 11 2028 c.1581G>A c.(1579-1581)caG>caA p.Q527Q UVSSA_ENST00000511563.1_Silent_p.Q78Q|UVSSA_ENST00000507531.1_Silent_p.Q527Q|UVSSA_ENST00000511216.1_Silent_p.Q527Q|UVSSA_ENST00000512728.1_Silent_p.Q78Q NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 527 CTGACTCCCAGCACCGCTTCT 0.617000 3 15 0 0 1 0 0 CNTFR 1271 broad.mit.edu 37 9 34556332 34556332 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:34556332G>A ENST00000378980.3 - 7 982 c.689C>T c.(688-690)tCg>tTg p.S230L CNTFR_ENST00000351266.4_Missense_Mutation_p.S230L NM_001207011.1|NM_147164.2 NP_001193940.1|NP_671693.1 P26992 CNTFR_HUMAN ciliary neurotrophic factor receptor 230 Fibronectin type-III 2. nervous system development anchored to membrane|extrinsic to membrane|plasma membrane ciliary neurotrophic factor receptor activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1) 15 all_epithelial(49;0.0899) STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.00494) AGGCCAGGTCGAGGGGGTCTG 0.607000 4 17 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 30946867 30946867 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:30946867T>C ENST00000597505.1 - 21 2985 c.2986A>G c.(2986-2988)Aga>Gga p.R996G DCDC1_ENST00000339794.5_Missense_Mutation_p.R75G|DCDC1_ENST00000406071.2_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 231 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) AGTTCATCTCTTTGCAGGTCT 0.343000 17 89 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89480348 89480348 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:89480348G>T ENST00000336596.2 + 13 2410 c.2185G>T c.(2185-2187)Ggg>Tgg p.G729W EPHA3_ENST00000494014.1_Missense_Mutation_p.G729W NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 729 Protein kinase. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GATGCTTCGAGGGATAGCATC 0.443000 TSP Lung(6;0.00050) 6 43 0.0293803 0.0309453 1 1 0 ASXL1 171023 broad.mit.edu 37 20 31021429 31021429 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:31021429G>T ENST00000375687.4 + 12 1852 c.1428G>T c.(1426-1428)ctG>ctT p.L476L ASXL1_ENST00000306058.5_Silent_p.L471L NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 476 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 CACCCGACCTGGAGGGTCCCG 0.592000 """F, N, Mis""" """MDS, CMML""" 30 139 5.77227e-19 1.14903e-18 1 1 0 KIAA1755 85449 broad.mit.edu 37 20 36874463 36874463 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:36874463G>T ENST00000279024.4 - 2 340 c.69C>A c.(67-69)gcC>gcA p.A23A NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 23 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) TGGGTGCTGTGGCCTCGAAAG 0.617000 8 36 0.0381472 0.0400654 1 1 0 NRXN1 9378 broad.mit.edu 37 2 50692613 50692613 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:50692613T>A ENST00000404971.1 - 18 4790 c.3451A>T c.(3451-3453)Atg>Ttg p.M1151L NRXN1_ENST00000405472.3_Missense_Mutation_p.M1103L|NRXN1_ENST00000401710.1_Missense_Mutation_p.M129L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Missense_Mutation_p.M1111L|NRXN1_ENST00000402717.3_Missense_Mutation_p.M1103L|NRXN1_ENST00000401669.2_Missense_Mutation_p.M1111L|NRXN1_ENST00000406859.3_Missense_Mutation_p.M1111L NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1111 Laminin G-like 6. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) AAGGAAGTCATACTACAGTCA 0.468000 3 24 0 0 1 0 0 LAMP5 24141 broad.mit.edu 37 20 9496214 9496214 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:9496214C>A ENST00000246070.2 + 2 671 c.179C>A c.(178-180)gCa>gAa p.A60E LAMP5_ENST00000427562.2_Missense_Mutation_p.A60E NM_012261.3 NP_036393.1 Q9UJQ1 CT103_HUMAN lysosomal-associated membrane protein family, member 5 60 integral to membrane TGTCTCATGGCAGAGTTTGCA 0.473000 16 84 1.52009e-12 2.77281e-12 1 1 0 TRIM42 287015 broad.mit.edu 37 3 140397390 140397390 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:140397390C>A ENST00000286349.3 + 1 510 c.319C>A c.(319-321)Cgc>Agc p.R107S NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 107 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CCACAAGGGCCGCCTCAGGAG 0.547000 3 34 0.115264 0.119286 1 1 0 PEX5L 51555 broad.mit.edu 37 3 179526078 179526078 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:179526078G>T ENST00000467460.1 - 13 1830 c.1500C>A c.(1498-1500)gcC>gcA p.A500A PEX5L_ENST00000485199.1_Silent_p.A465A|PEX5L_ENST00000476138.1_Silent_p.A457A|PEX5L_ENST00000472994.1_Silent_p.A441A|PEX5L_ENST00000468741.1_Silent_p.A308A|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Silent_p.A476A|PEX5L_ENST00000464614.1_Silent_p.A392A|PEX5L_ENST00000392649.3_Silent_p.A392A|PEX5L_ENST00000263962.8_Silent_p.A498A NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 500 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) GAACAGTTAAGGCAGCGTTAA 0.448000 5 57 0.000602214 0.000697722 1 1 0 CNTNAP5 129684 broad.mit.edu 37 2 124979290 124979290 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:124979290G>C ENST00000431078.1 + 2 455 c.91G>C c.(91-93)Gat>Cat p.D31H NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 31 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) AGACAACTGTGATGATCCACT 0.443000 5 17 0 0 1 0 0 SPEM1 374768 broad.mit.edu 37 17 7324689 7324689 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:7324689C>T ENST00000323675.3 + 3 720 c.695C>T c.(694-696)gCg>gTg p.A232V RP11-104H15.7_ENST00000575310.1_RNA NM_199339.2 NP_955371.2 Q8N4L4 SPEM1_HUMAN spermatid maturation 1 232 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 12 Prostate(122;0.173) GAGGCAGAGGCGGCTCAGTAC 0.647000 10 32 0 0 1 0 0 PAXIP1 22976 broad.mit.edu 37 7 154785453 154785453 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:154785453C>G ENST00000404141.1 - 3 397 c.243G>C c.(241-243)caG>caC p.Q81H PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.Q81H Q6ZW49 PAXI1_HUMAN PAX interacting (with transcription-activation domain) protein 1 81 BRCT 1. DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent histone methyltransferase complex|nuclear matrix NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 33 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) GAGTTCCACACTGAACGGACA 0.368000 3 16 0 0 1 0 0 MCM3 4172 broad.mit.edu 37 6 52133973 52133973 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:52133973C>A ENST00000596288.1 - 13 2041 c.2014G>T c.(2014-2016)Gcc>Tcc p.A672S MCM3_ENST00000229854.7_Missense_Mutation_p.A627S|MCM3_ENST00000419835.2_Missense_Mutation_p.A581S NM_002388.4 NP_002379.3 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 627 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 alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) TTCGCATGGGCTGTGGCCAGT 0.512000 14 81 0.000219431 0.000264137 1 1 0 ATP10B 23120 broad.mit.edu 37 5 160097606 160097606 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:160097606C>G ENST00000327245.5 - 7 1385 c.539G>C c.(538-540)tGc>tCc p.C180S NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 180 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AATCTCATTGCATTTCATTTG 0.493000 28 133 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86591173 86591173 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:86591173A>T ENST00000370571.2 - 3 1212 c.846T>A c.(844-846)gaT>gaA p.D282E COL24A1_ENST00000436319.1_Missense_Mutation_p.D282E NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 282 cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) CAGTAAATGTATCCTCTGACA 0.373000 14 107 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38407103 38407103 + Silent SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:38407103T>C ENST00000322350.5 + 8 1348 c.1002T>C c.(1000-1002)aaT>aaC p.N334N EGFLAM_ENST00000336740.6_Silent_p.N100N|EGFLAM_ENST00000354891.3_Silent_p.N334N|EGFLAM_ENST00000397202.2_Intron NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 334 cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) AGGGGAAGAATGGTGTGGCCA 0.542000 13 96 0 0 1 0 0 TRBV7-8 28590 broad.mit.edu 37 7 142099481 142099481 + RNA SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:142099481G>T ENST00000390359.3 - 0 359 AGAGATACACGGCGGAGTCCT 0.562000 8 76 1.58986e-06 2.19736e-06 1 1 0 MAEL 84944 broad.mit.edu 37 1 166990921 166990921 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:166990921G>T ENST00000367872.4 + 12 1378 c.1134G>T c.(1132-1134)agG>agT p.R378S MAEL_ENST00000367870.2_Missense_Mutation_p.R347S|MAEL_ENST00000491055.1_3'UTR NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 378 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 ACCCATCTAGGGCAAAAATTT 0.378000 21 63 9.95505e-16 1.91235e-15 1 1 0 THBS2 7058 broad.mit.edu 37 6 169632152 169632152 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:169632152C>A ENST00000366787.3 - 14 2323 c.2074G>T c.(2074-2076)Ggg>Tgg p.G692W XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 692 EGF-like 3. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GAGTCCTCCCCGCAGATGAGC 0.662000 6 57 0.00116845 0.00133498 1 1 0 GABRP 2568 broad.mit.edu 37 5 170216196 170216196 + Silent SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:170216196T>C ENST00000518525.1 + 4 581 c.117T>C c.(115-117)ccT>ccC p.P39P GABRP_ENST00000519385.1_Silent_p.P39P|GABRP_ENST00000265294.4_Silent_p.P39P|GABRP_ENST00000519598.1_Silent_p.P39P O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 39 cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TTTCCCTGCCTGGCTTTGAGA 0.473000 11 62 0 0 1 0 0 FAM208A 23272 broad.mit.edu 37 3 56674034 56674034 + Nonsense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:56674034C>T ENST00000431842.2 - 9 2480 c.1556G>A c.(1555-1557)tGg>tAg p.W519* FAM208A_ENST00000355628.5_Nonsense_Mutation_p.W915*|FAM208A_ENST00000493960.2_Nonsense_Mutation_p.W915* NM_015224.3 NP_056039.2 Q9UK61 CC063_HUMAN family with sequence similarity 208, member A 915 NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1) 32 AATCAGTTTCCAATGTATTTC 0.358000 6 28 0 0 1 0 0 TCP10L2 401285 broad.mit.edu 37 6 167592539 167592539 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:167592539G>T ENST00000366832.2 + 6 829 c.698G>T c.(697-699)gGc>gTc p.G233V NM_001145121.1 NP_001138593.1 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 233 endometrium(1)|kidney(2)|lung(3) 6 AACTCCGGTGGCAGAAAATCA 0.597000 3 20 0.115264 0.119286 1 1 0 C6orf118 168090 broad.mit.edu 37 6 165715087 165715087 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:165715087C>A ENST00000543069.1 - 2 993 c.412G>T c.(412-414)Gcc>Tcc p.A138S C6orf118_ENST00000230301.8_Missense_Mutation_p.A242S Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 242 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) TGGCCCGCGGCCGCCTTGCTC 0.602000 6 64 1.26484e-09 2.07267e-09 1 1 0 FMO3 2328 broad.mit.edu 37 1 171076827 171076827 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:171076827C>A ENST00000367755.4 + 4 444 c.333C>A c.(331-333)tcC>tcA p.S111S FMO3_ENST00000392085.2_Silent_p.S111S|FMO3_ENST00000542847.1_Silent_p.S91S|FMO3_ENST00000538429.1_Silent_p.S48S NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 111 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CATTTGTATCCAGTGTAAATA 0.373000 12 81 5.16669e-11 8.97213e-11 1 1 0 SLC4A1 6521 broad.mit.edu 37 17 42330543 42330543 + Nonsense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:42330543G>A ENST00000262418.6 - 17 2409 c.2254C>T c.(2254-2256)Cag>Tag p.Q752* NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 752 Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) TCCTGGATCTGGGCTGCAGCC 0.627000 10 63 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56357081 56357081 + Nonsense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:56357081G>A ENST00000370754.5 - 85 20607 c.20608C>T c.(20608-20610)Caa>Taa p.Q6870* DST_ENST00000446842.2_Nonsense_Mutation_p.Q6366*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q6692*|DST_ENST00000244364.6_Nonsense_Mutation_p.Q4278*|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Nonsense_Mutation_p.Q6581*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q4495*|DST_ENST00000421834.2_Nonsense_Mutation_p.Q4604* Q03001 DYST_HUMAN dystonin 6690 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ACCAACCGTTGAACCACTTTT 0.373000 14 61 0 0 1 0 0 MARCH11 441061 broad.mit.edu 37 5 16177988 16177988 + Silent SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:16177988A>T ENST00000332432.8 - 2 739 c.540T>A c.(538-540)ggT>ggA p.G180G MARCH11_ENST00000505509.1_5'UTR NM_001102562.1 NP_001096032.1 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 180 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 TCAACAACTCACCCTAAAAAG 0.428000 8 59 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176934355 176934355 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:176934355T>C ENST00000367654.2 - 9 1579 c.1566A>G c.(1564-1566)atA>atG p.I522M ASTN1_ENST00000424564.2_Missense_Mutation_p.I514M|ASTN1_ENST00000361833.2_Missense_Mutation_p.I514M|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.I514M O14525 ASTN1_HUMAN astrotactin 1 522 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CTCGCTGAAATATTGTGTAAG 0.418000 14 100 0 0 1 0 0 PLCD4 84812 broad.mit.edu 37 2 219500599 219500599 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:219500599C>A ENST00000450993.2 + 14 2316 c.1977C>A c.(1975-1977)atC>atA p.I659I PLCD4_ENST00000432688.1_Silent_p.I691I|PLCD4_ENST00000417849.1_Silent_p.I659I NM_032726.3 NP_116115.1 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 659 C2. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3) 23 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) AAGTGCAGATCTTTGGCGTTC 0.537000 6 34 2.7689e-08 4.30879e-08 1 1 0 ATRNL1 26033 broad.mit.edu 37 10 117075205 117075205 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:117075205C>A ENST00000355044.3 + 18 3122 c.2996C>A c.(2995-2997)cCc>cAc p.P999H ATRNL1_ENST00000303745.7_5'UTR|ATRNL1_ENST00000423111.2_Missense_Mutation_p.P96H NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 999 PSI 5. integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) AATCTTTGCCCCAAAGAAAAG 0.408000 17 85 3.52763e-06 4.73437e-06 1 1 0 TRIM54 57159 broad.mit.edu 37 2 27529120 27529120 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:27529120G>T ENST00000296098.4 + 8 1302 c.1032G>T c.(1030-1032)ccG>ccT p.P344P TRIM54_ENST00000380075.2_Silent_p.P302P NM_032546.3 NP_115935.3 Q9BYV2 TRI54_HUMAN tripartite motif containing 54 302 cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGGGCGGCCGGAGCCAGGCT 0.652000 5 78 0.000602214 0.000697722 1 1 0 IFT172 26160 broad.mit.edu 37 2 27703016 27703016 + Splice_Site SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:27703016C>A ENST00000260570.3 - 9 889 c.785_splice c.e9-1 p.R262_splice IFT172_ENST00000416524.2_Splice_Site_p.R241_splice|IFT172_ENST00000359466.6_Splice_Site_p.R262_splice NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 262 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) ACACCCGAAGCCTGAAATAAA 0.443000 7 46 0.00448238 0.00498677 1 1 0 PCYOX1L 78991 broad.mit.edu 37 5 148748018 148748018 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:148748018G>T ENST00000514349.1 + 5 1595 c.1016G>T c.(1015-1017)gGc>gTc p.G339V PCYOX1L_ENST00000274569.4_Missense_Mutation_p.G429V Q8NBM8 PCYXL_HUMAN prenylcysteine oxidase 1 like 429 prenylcysteine catabolic process extracellular region oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCCTCTATGGCTCCCGCCCC 0.622000 15 100 1.49906e-05 1.92643e-05 1 1 0 C7orf62 219557 broad.mit.edu 37 7 88423890 88423890 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:88423890C>G ENST00000297203.2 - 2 552 c.367G>C c.(367-369)Gta>Cta p.V123L ZNF804B_ENST00000333190.4_Intron NM_152706.3 NP_689919.1 Q8TBZ9 CG062_HUMAN chromosome 7 open reading frame 62 123 NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 30 ATAAAAAATACTGTTTCATCT 0.348000 22 47 0 0 1 0 0 FMN1 342184 broad.mit.edu 37 15 33357257 33357257 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:33357257C>A ENST00000334528.9 - 2 1392 c.1393G>T c.(1393-1395)Gag>Tag p.E465* FMN1_ENST00000558197.1_Nonsense_Mutation_p.E465*|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559150.1_5'UTR|FMN1_ENST00000559047.1_Nonsense_Mutation_p.E688* NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 688 Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) TCATCCTGCTCAGTCAGGCTG 0.468000 18 111 0.000566183 0.00066323 1 1 0 THSD7B 80731 broad.mit.edu 37 2 137928360 137928360 + Silent SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:137928360A>G ENST00000409968.1 + 7 1753 c.1575A>G c.(1573-1575)gcA>gcG p.A525A THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000413152.2_Silent_p.A494A|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.A525A thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CAGGGCCTGCAGGGCATTGCC 0.468000 12 54 0 0 1 0 0 UGT2B7 7364 broad.mit.edu 37 4 69972945 69972945 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:69972945G>T ENST00000305231.7 + 4 1101 c.1055G>T c.(1054-1056)cGg>cTg p.R352L UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000508661.1_Missense_Mutation_p.R352L NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 352 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CTCAATACTCGGCTCTACAAG 0.353000 40 115 1.51926e-22 3.09911e-22 1 1 0 PTPRZ1 5803 broad.mit.edu 37 7 121694040 121694040 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:121694040T>C ENST00000393386.2 + 26 6740 c.6329T>C c.(6328-6330)aTa>aCa p.I2110T PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I1243T NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 2110 Tyrosine-protein phosphatase 2. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 TGGAGGATGATATGGGACCAT 0.428000 29 159 0 0 1 0 0 NBEAP1 606 broad.mit.edu 37 15 20876546 20876546 + RNA SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:20876546C>A ENST00000556948.1 - 0 54 AGGTATTTTGCAAAAGATAAA 0.338000 4 40 0.00909568 0.00987474 1 1 0 GLI2 2736 broad.mit.edu 37 2 121747365 121747365 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:121747365C>A ENST00000452319.1 + 14 3935 c.3875C>A c.(3874-3876)cCc>cAc p.P1292H GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.P1292H P10070 GLI2_HUMAN GLI family zinc finger 2 1292 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) GCACCTGACCCCACCACGATG 0.632000 8 34 5.18039e-06 6.86552e-06 1 1 0 EDIL3 10085 broad.mit.edu 37 5 83525697 83525697 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:83525697C>T ENST00000296591.5 - 3 620 c.202G>A c.(202-204)Gat>Aat p.D68N EDIL3_ENST00000380138.3_Intron NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 68 cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) TCTTCTTCATCTGATGCTATG 0.383000 7 49 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51096452 51096452 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:51096452C>G ENST00000395542.2 - 12 2771 c.2587G>C c.(2587-2589)Ggc>Cgc p.G863R COBL_ENST00000265136.7_Missense_Mutation_p.G781R O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 781 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) GAGGGTCGGCCCAGGTGTTTT 0.577000 9 60 0 0 1 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112900127 112900127 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:112900127G>T ENST00000374530.3 + 8 2483 c.2303G>T c.(2302-2304)gGa>gTa p.G768V AKAP2_ENST00000555236.1_Missense_Mutation_p.G768V|AKAP2_ENST00000510514.5_Missense_Mutation_p.G768V|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.G768V|AKAP2_ENST00000434623.2_Missense_Mutation_p.G626V|AKAP2_ENST00000374525.1_Missense_Mutation_p.G626V|AKAP2_ENST00000259318.7_Missense_Mutation_p.G537V NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 537 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 GAGGGCCGAGGAGAAGGCGTC 0.532000 13 74 2.61681e-11 4.57095e-11 1 1 0 KEAP1 9817 broad.mit.edu 37 19 10610475 10610475 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:10610475C>G ENST00000171111.5 - 2 782 c.235G>C c.(235-237)Gtc>Ctc p.V79L KEAP1_ENST00000393623.2_Missense_Mutation_p.V79L NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 79 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) TGCAGTGTGACGTCACACAGC 0.597000 13 63 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66478175 66478175 + Silent SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:66478175C>G ENST00000533211.1 - 10 1282 c.951G>C c.(949-951)ctG>ctC p.L317L SPTBN2_ENST00000529997.1_Silent_p.L317L|SPTBN2_ENST00000309996.2_Silent_p.L317L O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 317 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 TCCACTGCAGCAGCTCCGAGG 0.607000 8 39 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106513170 106513170 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:106513170G>T ENST00000359195.3 + 4 2384 c.2074G>T c.(2074-2076)Ggt>Tgt p.G692C PIK3CG_ENST00000496166.1_Missense_Mutation_p.G692C|PIK3CG_ENST00000440650.2_Missense_Mutation_p.G692C NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 692 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 CAAAAGAATTGGTCACTTTTT 0.413000 57 64 4.33383e-22 8.80421e-22 1 1 0 RAVER2 55225 broad.mit.edu 37 1 65234364 65234364 + Missense_Mutation SNP A A C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:65234364A>C ENST00000294428.3 + 2 353 c.275A>C c.(274-276)tAt>tCt p.Y92S RAVER2_ENST00000371072.4_Missense_Mutation_p.Y92S Q9HCJ3 RAVR2_HUMAN ribonucleoprotein, PTB-binding 2 92 RRM 1. cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 TTAAAAGACTATGACTTAAAA 0.308000 13 69 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157527757 157527757 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:157527757G>T ENST00000346085.5 + 20 5483 c.5482G>T c.(5482-5484)Gag>Tag p.E1828* ARID1B_ENST00000275248.4_Nonsense_Mutation_p.E1810*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.E1868*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.E1815* NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1815 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity p.G1804_H1815delGGGDTTEHIQTH(1) NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) TGACACCACCGAGCACATTCA 0.552000 18 116 3.52763e-06 4.73437e-06 1 1 0 OR6F1 343169 broad.mit.edu 37 1 247875464 247875464 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:247875464C>A ENST00000302084.2 - 1 641 c.594G>T c.(592-594)gtG>gtT p.V198V RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TCACAAAGGCCACAAGCTCTA 0.537000 36 88 4.23469e-30 8.74658e-30 1 1 0 ATHL1 80162 broad.mit.edu 37 11 293193 293193 + Missense_Mutation SNP G G C rs140787613 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:293193G>C ENST00000409548.2 + 8 1416 c.1301G>C c.(1300-1302)gGg>gCg p.G434A ATHL1_ENST00000409655.1_Missense_Mutation_p.G257A|ATHL1_ENST00000409479.1_Missense_Mutation_p.G461A NM_025092.4 NP_079368.3 Q32M88 ATHL1_HUMAN ATH1, acid trehalase-like 1 (yeast) 434 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3) 17 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) TACCATTCAGGGGTCAACAAC 0.607000 20 109 0 0 1 0 0 PRSS55 203074 broad.mit.edu 37 8 10383104 10383104 + Silent SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:10383104G>C ENST00000328655.3 + 1 49 c.9G>C c.(7-9)ctG>ctC p.L3L PRSS55_ENST00000522210.1_Silent_p.L3L|PRSS51_ENST00000523024.1_RNA NM_198464.3 NP_940866.2 Q6UWB4 PRS55_HUMAN protease, serine, 55 3 proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 CCATGCTCCTGTTCTCAGTGT 0.652000 6 47 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44070649 44070649 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:44070649A>G ENST00000359947.4 + 17 3453 c.3113A>G c.(3112-3114)tAt>tGt p.Y1038C PTPRF_ENST00000372413.3_Missense_Mutation_p.Y1029C|PTPRF_ENST00000422171.2_Missense_Mutation_p.Y386C|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.Y1038C|PTPRF_ENST00000438120.1_Missense_Mutation_p.Y1029C NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1038 Fibronectin type-III 8. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CCCGACTCCTATAAGTCAGCT 0.572000 4 78 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24359036 24359036 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:24359036G>T ENST00000175238.6 + 20 2238 c.2155G>T c.(2155-2157)Gat>Tat p.D719Y ADAM7_ENST00000520720.1_Missense_Mutation_p.D491Y|ADAM7_ENST00000380789.1_Missense_Mutation_p.D719Y|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 719 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) ATACTTTGGTGATGAGCAGCA 0.363000 10 61 2.27111e-07 3.32483e-07 1 1 0 OR2W5 441932 broad.mit.edu 37 1 247654980 247654980 + RNA SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:247654980T>A ENST00000522351.1 + 0 611 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) ATGCCTGCTCTTATTGCCATG 0.562000 17 138 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121641150 121641150 + Splice_Site SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:121641150G>T ENST00000489711.1 + 8 1168 c.e8+1 SLC15A2_ENST00000295605.2_Splice_Site NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) ATGTATCTGGGTAAGTCCATA 0.373000 9 56 5.68852e-11 9.84374e-11 1 1 0 SERPINB2 5055 broad.mit.edu 37 18 61558715 61558715 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:61558715C>A ENST00000457692.1 + 3 370 c.37C>A c.(37-39)Ctc>Atc p.L13I SERPINB2_ENST00000299502.4_Missense_Mutation_p.L13I NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 13 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) ACTCTTTGCCCTCAATTTATT 0.458000 12 63 4.36969e-10 7.30581e-10 1 1 0 BMP2K 55589 broad.mit.edu 37 4 79832115 79832115 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:79832115A>T ENST00000335016.5 + 16 2580 c.2414A>T c.(2413-2415)gAt>gTt p.D805V PAQR3_ENST00000295462.3_Intron NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 805 nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 TCTGATTCTGATTATGAGCAG 0.428000 12 37 0 0 1 0 0 OR2T1 26696 broad.mit.edu 37 1 248569421 248569421 + Silent SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:248569421A>G ENST00000366474.1 + 1 126 c.126A>G c.(124-126)ttA>ttG p.L42L NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 42 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGAAGATATTACCTTATATCG 0.383000 40 166 0 0 1 0 0 SERTAD4 56256 broad.mit.edu 37 1 210411403 210411403 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:210411403G>A ENST00000367012.3 + 2 328 c.98G>A c.(97-99)aGc>aAc p.S33N SERTAD4_ENST00000490620.1_3'UTR NM_019605.3 NP_062551.1 Q9NUC0 SRTD4_HUMAN SERTA domain containing 4 33 protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) GAGGCTGACAGCTACGGAGGC 0.592000 39 113 0 0 1 0 0 MRPL42 28977 broad.mit.edu 37 12 93881410 93881410 + Silent SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:93881410T>C ENST00000549982.1 + 5 518 c.357T>C c.(355-357)acT>acC p.T119T MRPL42_ENST00000361630.2_Silent_p.T119T|MRPL42_ENST00000548545.1_Silent_p.T119T|MRPL42_ENST00000547098.1_Silent_p.T119T|MRPL42_ENST00000393128.4_Silent_p.T119T|MRPL42_ENST00000552217.1_Silent_p.T119T NM_014050.3|NM_172177.3 NP_054769.1|NP_751917.1 Q9Y6G3 RM42_HUMAN mitochondrial ribosomal protein L42 119 translation mitochondrial small ribosomal subunit structural constituent of ribosome breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2) 7 TCTTTACTACTAAGCACCGTT 0.363000 20 138 0 0 1 0 0 HTR5A 3361 broad.mit.edu 37 7 154862996 154862996 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:154862996C>G ENST00000287907.2 + 1 963 c.387C>G c.(385-387)atC>atG p.I129M AC093726.4_ENST00000543018.1_Missense_Mutation_p.Q6H|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_Missense_Mutation_p.Q6H NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 129 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CGGCCAGCATCTGGAACGTGA 0.642000 7 36 0 0 1 0 0 MRPL28 10573 broad.mit.edu 37 16 419158 419158 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:419158C>T ENST00000199706.8 - 3 386 c.351G>A c.(349-351)gaG>gaA p.E117E MRPL28_ENST00000389675.2_Silent_p.E117E|MRPL28_ENST00000429738.1_Intron NM_006428.4 NP_006419.2 Q13084 RM28_HUMAN mitochondrial ribosomal protein L28 117 translation mitochondrial ribosome protein binding|structural constituent of ribosome breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1) 5 Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064) TGTCCAGGATCTCACTGTAGA 0.532000 17 73 0 0 1 0 0 AVPR1B 553 broad.mit.edu 37 1 206225298 206225298 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:206225298C>T ENST00000367126.4 + 1 1323 c.858C>T c.(856-858)atC>atT p.I286I NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 286 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) CCTTTGTCATCGTGCTGGCCT 0.572000 17 110 0 0 1 0 0 TSNAXIP1 55815 broad.mit.edu 37 16 67861863 67861863 + Silent SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:67861863T>A ENST00000388833.3 + 16 2321 c.1944T>A c.(1942-1944)cgT>cgA p.R648R TSNAXIP1_ENST00000415766.3_Silent_p.R633R|TSNAXIP1_ENST00000561639.1_Silent_p.R702R NM_018430.2 NP_060900.2 Q2TAA8 TXIP1_HUMAN translin-associated factor X interacting protein 1 648 cell differentiation|multicellular organismal development|spermatogenesis perinuclear region of cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125) ACATCAGGCGTGTGGGACCTC 0.547000 6 105 0 0 1 0 0 OR1N2 138882 broad.mit.edu 37 9 125316167 125316167 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:125316167G>C ENST00000373688.2 + 1 777 c.719G>C c.(718-720)tGg>tCg p.W240S NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.W240L(1) breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 CGCATTTTCTGGGCTGTGTTT 0.502000 18 136 0 0 1 0 0 ITFG1 81533 broad.mit.edu 37 16 47189631 47189631 + Nonstop_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:47189631C>A ENST00000320640.6 - 18 2066 c.1838G>T c.(1837-1839)tGa>tTa p.*613L ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_3'UTR|RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA NM_030790.3 NP_110417.2 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 0 extracellular region|integral to membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 19 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) AAAGGCAAGTCACATAGCATC 0.313000 20 139 4.35082e-09 7.00571e-09 1 1 0 NOD1 10392 broad.mit.edu 37 7 30492002 30492002 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:30492002C>A ENST00000222823.4 - 6 1556 c.1031G>T c.(1030-1032)cGg>cTg p.R344L NOD1_ENST00000423334.2_3'UTR NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 344 NACHT. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 CACCTTCTTCCGCAGGAACTG 0.672000 9 42 0.307466 0.310185 1 1 0 ZNF491 126069 broad.mit.edu 37 19 11917429 11917429 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:11917429G>T ENST00000323169.5 + 3 992 c.661G>T c.(661-663)Ggg>Tgg p.G221W ZNF491_ENST00000492230.1_Intron NM_152356.3 NP_689569.2 Q8N8L2 ZN491_HUMAN zinc finger protein 491 221 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1) 26 TAAGGAATGTGGGAAAGCCTT 0.413000 8 42 0.00307968 0.00344432 1 1 0 RANBP10 57610 broad.mit.edu 37 16 67762377 67762377 + Missense_Mutation SNP T T G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:67762377T>G ENST00000317506.3 - 11 1505 c.1390A>C c.(1390-1392)Aac>Cac p.N464H RANBP10_ENST00000448631.2_Missense_Mutation_p.N438H|RANBP10_ENST00000536251.1_Missense_Mutation_p.N235H|RANBP10_ENST00000411657.2_Missense_Mutation_p.N377H|RANBP10_ENST00000602677.1_Missense_Mutation_p.N494H NM_020850.1 NP_065901.1 Q6VN20 RBP10_HUMAN RAN binding protein 10 464 endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) AGCACACCGTTGGGGTAGTGC 0.607000 12 44 0 0 1 0 0 STAG3L4 64940 broad.mit.edu 37 7 66771021 66771021 + RNA SNP A A C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:66771021A>C ENST00000416602.2 + 0 313 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) ACCAGGATGCAGGATTTCTGG 0.398000 26 140 0 0 1 0 0 CACNG6 59285 broad.mit.edu 37 19 54515433 54515433 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:54515433G>T ENST00000252729.2 + 4 1363 c.773G>T c.(772-774)cGg>cTg p.R258L CACNG6_ENST00000352529.1_Missense_Mutation_p.R187L|CACNG6_ENST00000346968.2_Missense_Mutation_p.R212L NM_145814.1 NP_665813.1 Q9BXT2 CCG6_HUMAN calcium channel, voltage-dependent, gamma subunit 6 258 voltage-gated calcium channel complex voltage-gated calcium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) CGGGGGCACCGGGCCACCTAG 0.627000 20 92 3.83957e-06 5.14836e-06 1 1 0 EPHA3 2042 broad.mit.edu 37 3 89499326 89499326 + Splice_Site SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:89499326G>T ENST00000336596.2 + 15 2721 c.e15-1 EPHA3_ENST00000494014.1_Splice_Site NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TTCTCACACAGGTAATTAAAG 0.473000 TSP Lung(6;0.00050) 5 24 3.59834e-05 4.51849e-05 1 1 0 OTC 5009 broad.mit.edu 37 X 38260568 38260568 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:38260568T>C ENST00000039007.4 + 5 579 c.427T>C c.(427-429)Tat>Cat p.Y143H OTC_ENST00000488812.1_3'UTR|TM4SF2_ENST00000465127.1_Intron NM_000531.5 NP_000522.3 P00480 OTC_HUMAN ornithine carbamoyltransferase 143 arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 L-Citrulline(DB00155)|L-Ornithine(DB00129) GGCTCGAGTGTATAAACAATC 0.383000 6 45 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152080153 152080153 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:152080153G>T ENST00000368804.1 - 2 5539 c.5540C>A c.(5539-5541)gCg>gAg p.A1847E NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1847 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGCTCCTCCGCCCGGTACTG 0.567000 22 99 2.70639e-06 3.66872e-06 1 1 0 SPANXD 64648 broad.mit.edu 37 X 140785680 140785680 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:140785680G>T ENST00000370515.3 - 2 569 c.236C>A c.(235-237)cCc>cAc p.P79H NM_032417.2|NM_145665.1 NP_115793.1|NP_663698.1 SPANX family, member D breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Acute lymphoblastic leukemia(192;7.65e-05) CATTTGGAGGGGGTTGATTCT 0.448000 61 278 2.40885e-21 4.87357e-21 1 1 0 NFIL3 4783 broad.mit.edu 37 9 94172453 94172453 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:94172453G>A ENST00000297689.3 - 2 958 c.564C>T c.(562-564)tcC>tcT p.S188S NM_005384.2 NP_005375.2 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 188 Ser-rich. circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 16 CTGAAACATCGGACAGCGAGC 0.468000 4 76 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26717868 26717868 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:26717868C>A ENST00000272371.2 - 9 965 c.839G>T c.(838-840)gGt>gTt p.G280V OTOF_ENST00000403946.3_Missense_Mutation_p.G280V NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 280 C2 1. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTTGTCGTCACCCACCTCCAC 0.577000 11 64 1.58986e-06 2.19736e-06 1 1 0 CST2 1470 broad.mit.edu 37 20 23807101 23807101 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:23807101C>A ENST00000304725.2 - 1 267 c.197G>T c.(196-198)cGc>cTc p.R66L NM_001322.2 NP_001313.1 P09228 CYTT_HUMAN cystatin SA 66 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 10 CCGCAGCAGGCGTCTGTAGTA 0.557000 9 37 1.58986e-06 2.19736e-06 1 1 0 DUSP23 54935 broad.mit.edu 37 1 159752077 159752077 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:159752077G>A ENST00000368107.1 + 2 500 c.402G>A c.(400-402)gaG>gaA p.E134E DUSP23_ENST00000368108.3_Silent_p.E134E|DUSP23_ENST00000368109.1_Silent_p.E134E Q9BVJ7 DUS23_HUMAN dual specificity phosphatase 23 134 Tyrosine-protein phosphatase. cytosol|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity lung(1) 1 all_hematologic(112;0.0537) GCTCCATCGAGACCTATGAGC 0.572000 5 66 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133898711 133898711 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:133898711C>T ENST00000220616.4 + 9 1134 c.1094C>T c.(1093-1095)gCc>gTc p.A365V TG_ENST00000377869.1_Missense_Mutation_p.A365V NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 365 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CAATCTTGTGCCTCCGAAAGG 0.502000 23 130 0 0 1 0 0 PLD5 200150 broad.mit.edu 37 1 242511497 242511497 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:242511497G>A ENST00000427495.1 - 2 176 c.51C>T c.(49-51)gcC>gcT p.A17A PLD5_ENST00000536534.1_Silent_p.A79A|PLD5_ENST00000442594.2_5'UTR NM_001195811.1|NM_001195812.1 NP_001182740.1|NP_001182741.1 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 79 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) CAACCAGAATGGCAAAGCAGC 0.453000 19 134 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123171680 123171680 + Silent SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:123171680G>C ENST00000264501.4 + 37 6247 c.5874G>C c.(5872-5874)cgG>cgC p.R1958R KIAA1109_ENST00000455637.1_Silent_p.R1958R|KIAA1109_ENST00000388738.3_Silent_p.R1958R Q2LD37 K1109_HUMAN KIAA1109 1958 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 CATGTGACCGGACAAGCCCTT 0.388000 17 99 0 0 1 0 0 ZNF664 144348 broad.mit.edu 37 12 124497351 124497351 + Silent SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:124497351C>G ENST00000539644.1 + 6 2490 c.660C>G c.(658-660)gtC>gtG p.V220V ZNF664_ENST00000538932.2_Silent_p.V220V|RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000392404.3_Silent_p.V220V|ZNF664_ENST00000337815.4_Silent_p.V220V Q8N3J9 ZN664_HUMAN zinc finger protein 664 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(5)|lung(6)|skin(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249) ACCAGAGAGTCCACACAGGAG 0.517000 19 172 0 0 1 0 0 SERPINA11 256394 broad.mit.edu 37 14 94909495 94909495 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:94909495G>T ENST00000334708.3 - 4 1049 c.985C>A c.(985-987)Caa>Aaa p.Q329K RP11-349I1.2_ENST00000536735.1_RNA NM_001080451.1 NP_001073920.1 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 329 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) AGACCAATTTGGGGAAGTATG 0.438000 10 97 0.335167 0.337902 1 1 0 DLX5 1749 broad.mit.edu 37 7 96650103 96650103 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:96650103G>T ENST00000222598.4 - 3 1288 c.815C>A c.(814-816)cCg>cAg p.P272Q DLX5_ENST00000493764.1_5'UTR NM_005221.5 NP_005212.1 P56178 DLX5_HUMAN distal-less homeobox 5 272 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1) 20 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) GCCCGGCGGCGGCAGGTGGGA 0.587000 20 45 2.70639e-06 3.66872e-06 1 1 0 NDST3 9348 broad.mit.edu 37 4 119059214 119059214 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:119059214C>A ENST00000296499.5 + 5 1633 c.1230C>A c.(1228-1230)caC>caA p.H410Q NDST3_ENST00000433996.2_Missense_Mutation_p.H329Q NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 410 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 CTTAGGAGCACGGCATTCCAA 0.418000 12 46 4.36969e-10 7.30581e-10 1 1 0 C17orf47 284083 broad.mit.edu 37 17 56620084 56620084 + Silent SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:56620084T>C ENST00000321691.3 - 1 1645 c.1464A>G c.(1462-1464)ccA>ccG p.P488P RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA NM_001038704.2 NP_001033793.2 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 488 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) GAAACTCCTTTGGTGGTGATG 0.468000 45 349 0 0 1 0 0 GOLT1A 127845 broad.mit.edu 37 1 204170926 204170926 + Missense_Mutation SNP G G A rs150924607 by1000genomes TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:204170926G>A ENST00000308302.3 - 3 316 c.131C>T c.(130-132)aCg>aTg p.T44M NM_198447.1 NP_940849.1 Q6ZVE7 GOT1A_HUMAN golgi transport 1A 44 protein transport|vesicle-mediated transport Golgi membrane|integral to membrane p.T44M(1) kidney(1)|lung(2)|urinary_tract(1) 4 all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244) GGACAGGCCCGTCAGGAACAG 0.602000 5 84 0 0 1 0 0 LIN28A 79727 broad.mit.edu 37 1 26751806 26751806 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:26751806A>G ENST00000326279.6 + 3 355 c.241A>G c.(241-243)Atg>Gtg p.M81V LIN28A_ENST00000254231.4_Missense_Mutation_p.M81V NM_024674.4 NP_078950.1 Q9H9Z2 LN28A_HUMAN lin-28 homolog A (C. elegans) 81 CSD. miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance cytoplasmic mRNA processing body|nucleolus|stress granule DNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2) 8 TAAGCTGCACATGGAAGGGTT 0.458000 12 51 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152190972 152190972 + Missense_Mutation SNP C C A rs150311804 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:152190972C>A ENST00000368801.2 - 3 3208 c.3133G>T c.(3133-3135)Ggt>Tgt p.G1045C FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1045 keratinization calcium ion binding|protein binding p.G1045S(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAAGAGTGACCGGAGCCAGAC 0.577000 104 287 1.58909e-51 3.30522e-51 1 1 0 CTSE 1510 broad.mit.edu 37 1 206328753 206328753 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:206328753G>T ENST00000361052.3 + 7 953 c.835G>T c.(835-837)Gag>Tag p.E279* CTSE_ENST00000358184.2_Nonsense_Mutation_p.E274*|CTSE_ENST00000360218.2_Intron|CTSE_ENST00000432969.2_Intron P14091 CATE_HUMAN cathepsin E 279 antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis endosome aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3) 16 BRCA - Breast invasive adenocarcinoma(75;0.0754) GTTCTGCTCCGAGGGCTGCCA 0.607000 15 73 0.0242445 0.0256819 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141299455 141299455 + Missense_Mutation SNP G G A rs142111915 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:141299455G>A ENST00000389484.3 - 44 8251 c.7280C>T c.(7279-7281)gCt>gTt p.A2427V NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2427 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) CCGCAGTATAGCTCTTCTTCC 0.418000 TSP Lung(27;0.18) 27 113 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176323127 176323127 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:176323127C>T ENST00000292432.5 - 2 125 c.34G>A c.(34-36)Ggg>Agg p.G12R NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 12 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTTTCTTCCCCCTGCCGCAAC 0.552000 12 55 0 0 1 0 0 GCKR 2646 broad.mit.edu 37 2 27722063 27722063 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:27722063G>A ENST00000264717.2 + 6 546 c.483G>A c.(481-483)gaG>gaA p.E161E GCKR_ENST00000424318.2_Intron NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 161 SIS 1. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) ACGGGATTGAGGAACTGAAGA 0.512000 14 55 0 0 1 0 0 TCERG1 10915 broad.mit.edu 37 5 145838472 145838472 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:145838472G>T ENST00000296702.5 + 4 502 c.464G>T c.(463-465)cGt>cTt p.R155L TCERG1_ENST00000394421.2_Missense_Mutation_p.R155L NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 155 WW 1. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCTCGGACACGTGAATCTGCA 0.418000 27 168 5.45727e-16 1.05931e-15 1 1 0 CDK14 5218 broad.mit.edu 37 7 90377088 90377088 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:90377088C>A ENST00000406263.1 + 3 766 c.324C>A c.(322-324)agC>agA p.S108R CDK14_ENST00000436577.2_Intron|CDK14_ENST00000265741.3_Missense_Mutation_p.S136R|CDK14_ENST00000380050.3_Missense_Mutation_p.S154R O94921 CDK14_HUMAN cyclin-dependent kinase 14 154 cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4) 32 AAGGGAAAAGCAAGTAAGTTC 0.294000 33 94 6.00712e-18 1.18939e-17 1 1 0 ONECUT2 9480 broad.mit.edu 37 18 55143734 55143734 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:55143734G>T ENST00000491143.2 + 2 1326 c.1294G>T c.(1294-1296)Gtg>Ttg p.V432L NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 432 organ morphogenesis nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) GTCCCGCCTGGTGTTCACTGA 0.517000 7 60 0.0293803 0.0309453 1 1 0 BPI 671 broad.mit.edu 37 20 36954734 36954734 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:36954734C>A ENST00000262865.4 + 10 1162 c.1073C>A c.(1072-1074)tCt>tAt p.S358Y CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR NM_001725.2 NP_001716.2 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 358 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) CCACACCTGTCTGTGCAGCCC 0.587000 7 22 2.0095e-06 2.75169e-06 1 1 0 OR5L2 26338 broad.mit.edu 37 11 55595153 55595153 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:55595153G>A ENST00000378397.1 + 1 459 c.459G>A c.(457-459)acG>acA p.T153T NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) TCTGTGGGACGGTGTGTTCTC 0.493000 HNSCC(27;0.073) 39 210 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186084544 186084544 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:186084544C>A ENST00000271588.4 + 75 11788 c.11559C>A c.(11557-11559)taC>taA p.Y3853* HMCN1_ENST00000367492.2_Nonsense_Mutation_p.Y3853* NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3853 Ig-like C2-type 37. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AGAACTCATACAGGTAAGGAT 0.338000 8 52 5.18039e-06 6.86552e-06 1 1 0 CNBD1 168975 broad.mit.edu 37 8 88249314 88249314 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:88249314A>G ENST00000518476.1 + 6 796 c.745A>G c.(745-747)Atg>Gtg p.M249V CNBD1_ENST00000522427.1_3'UTR NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 249 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 ACTTGCTGAGATGTACCTACC 0.383000 15 64 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57743763 57743763 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:57743763G>A ENST00000281282.5 + 5 1947 c.1869G>A c.(1867-1869)gtG>gtA p.V623V NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 623 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) CCATAGAagtggctgaacttc 0.323000 17 88 0 0 1 0 0 ESYT2 57488 broad.mit.edu 37 7 158534326 158534326 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:158534326G>A ENST00000251527.5 - 17 2202 c.2137C>T c.(2137-2139)Ctg>Ttg p.L713L ESYT2_ENST00000435514.2_Silent_p.L148L NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 741 integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 GGGGAGGCCAGGAGGCTGGAG 0.662000 9 40 0 0 1 0 0 NET1 10276 broad.mit.edu 37 10 5496922 5496922 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:5496922A>G ENST00000355029.4 + 10 1180 c.1038A>G c.(1036-1038)atA>atG p.I346M NET1_ENST00000484741.1_3'UTR|NET1_ENST00000380359.3_Missense_Mutation_p.I292M|NET1_ENST00000542715.1_Missense_Mutation_p.I165M NM_001047160.1 NP_001040625.1 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming 1 346 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1) 23 TATTGATAATACAGGGAGTCC 0.398000 16 101 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61542466 61542466 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:61542466G>A ENST00000266070.4 - 3 824 c.499C>T c.(499-501)Cgc>Tgc p.R167C DIDO1_ENST00000395343.1_Missense_Mutation_p.R167C|DIDO1_ENST00000266071.5_Missense_Mutation_p.R167C|DIDO1_ENST00000354665.4_Missense_Mutation_p.R167C|DIDO1_ENST00000370371.4_Missense_Mutation_p.R167C|DIDO1_ENST00000395335.2_Missense_Mutation_p.R167C|DIDO1_ENST00000370368.1_Missense_Mutation_p.R167C|DIDO1_ENST00000395340.1_Missense_Mutation_p.R167C|DIDO1_ENST00000370366.1_Missense_Mutation_p.R167C NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 167 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CTGCGAAGGCGATTCTGAAGC 0.602000 28 68 0 0 1 0 0 OR5T1 390155 broad.mit.edu 37 11 56044093 56044093 + Nonstop_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:56044093T>C ENST00000313033.2 + 1 1065 c.979T>C c.(979-981)Tag>Cag p.*327Q NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) AAATAAGTTATAGTTTTAAAA 0.338000 8 48 0 0 1 0 0 SERTAD4 56256 broad.mit.edu 37 1 210415071 210415071 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:210415071T>A ENST00000367012.3 + 4 690 c.460T>A c.(460-462)Tgc>Agc p.C154S SERTAD4_ENST00000490620.1_3'UTR NM_019605.3 NP_062551.1 Q9NUC0 SRTD4_HUMAN SERTA domain containing 4 154 protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) CTTCCCTGCCTGCTCTTTCAA 0.448000 23 238 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32633255 32633255 + Nonsense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:32633255T>A ENST00000242310.4 - 1 2412 c.2323A>T c.(2323-2325)Aag>Tag p.K775* NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 775 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCTGGCATCTTATGAAGATAC 0.438000 18 122 0 0 1 0 0 SLC30A9 10463 broad.mit.edu 37 4 41992738 41992738 + Nonsense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:41992738C>T ENST00000264451.6 + 1 250 c.70C>T c.(70-72)Cga>Tga p.R24* NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 24 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GCTCCGTCTGCGATGCAGGGC 0.706000 4 20 0 0 1 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105361219 105361219 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:105361219G>A ENST00000297581.2 + 2 488 c.439G>A c.(439-441)Gca>Aca p.A147T DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.A147T NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 147 osteoclast differentiation cell surface|integral to membrane|plasma membrane p.A147T(1) ATATATTGAGGCAATTCAGTG 0.403000 18 85 0 0 1 0 0 AACS 65985 broad.mit.edu 37 12 125576001 125576001 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:125576001G>T ENST00000316519.6 + 5 708 c.502G>T c.(502-504)Gag>Tag p.E168* AACS_ENST00000261686.6_Nonsense_Mutation_p.E168* NM_023928.3 NP_076417.2 Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 168 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) GCACGCTGTCGAGGCGATGCT 0.557000 4 62 0.014758 0.0158251 1 1 0 OR6N1 128372 broad.mit.edu 37 1 158736335 158736335 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:158736335G>T ENST00000335094.2 - 1 157 c.138C>A c.(136-138)ttC>ttA p.F46L NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) AGACCACCAGGAATATCAGCA 0.507000 9 85 0.000274275 0.00032488 1 1 0 ETAA1 54465 broad.mit.edu 37 2 67631469 67631469 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:67631469G>T ENST00000272342.5 + 5 1785 c.1655G>T c.(1654-1656)gGc>gTc p.G552V ETAA1_ENST00000462772.1_Intron NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 552 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 GATCTTTTTGGCTCTGCAAAT 0.353000 14 92 3.27435e-08 5.04244e-08 1 1 0 WBP11P1 441818 broad.mit.edu 37 18 30093108 30093108 + RNA SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:30093108C>A ENST00000567636.1 + 0 1483 NR_003558.1 CAGGACTCGGCCTTTACCCTG 0.607000 3 7 0.004672 0.00515519 1 1 0 CNTNAP4 85445 broad.mit.edu 37 16 76569473 76569473 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:76569473G>T ENST00000307431.8 + 19 3169 c.2784G>T c.(2782-2784)ctG>ctT p.L928L CNTNAP4_ENST00000377504.4_Silent_p.L880L|CNTNAP4_ENST00000476707.1_Silent_p.L932L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.L856L NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 929 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GAGGCTTTCTGGGCTGCATTC 0.483000 6 61 3.09899e-07 4.50568e-07 1 1 0 LCE2C 353140 broad.mit.edu 37 1 152648675 152648675 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:152648675G>T ENST00000368783.1 + 2 239 c.184G>T c.(184-186)Ggc>Tgc p.G62C LCE2B_ENST00000417924.2_Intron NM_178429.2 NP_848516.1 Q5TA81 LCE2C_HUMAN late cornified envelope 2C 62 Cys-rich. keratinization endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 13 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CAGCTCTGGGGGCTGCTGCAG 0.662000 26 147 8.24728e-16 1.5967e-15 1 1 0 OR2T2 401992 broad.mit.edu 37 1 248616127 248616127 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:248616127C>A ENST00000342927.3 + 1 51 c.29C>A c.(28-30)tCc>tAc p.S10Y NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTCCAGAACTCCACTAACTTC 0.502000 9 167 3.51602e-12 6.30502e-12 1 1 0 MC5R 4161 broad.mit.edu 37 18 13826108 13826108 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:13826108A>T ENST00000324750.3 + 1 566 c.344A>T c.(343-345)gAc>gTc p.D115V NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 115 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 CGCCACATTGACAATGTGTTT 0.517000 13 94 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232564261 232564261 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:232564261C>A ENST00000366630.1 - 16 4664 c.4306G>T c.(4306-4308)Gtg>Ttg p.V1436L SIPA1L2_ENST00000308942.4_Missense_Mutation_p.V510L|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V1436L Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1436 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TCTCCCACCACTGTCTGATGC 0.438000 13 98 1.61879e-10 2.76256e-10 1 1 0 CCIN 881 broad.mit.edu 37 9 36169749 36169749 + Nonsense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:36169749C>T ENST00000335119.2 + 1 361 c.250C>T c.(250-252)Cag>Tag p.Q84* NM_005893.2 NP_005884.2 Q13939 CALI_HUMAN calicin 84 BTB. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4) 21 STAD - Stomach adenocarcinoma(86;0.228) CACAGTGGACCAGCTTCTGGA 0.537000 7 28 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219874159 219874159 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:219874159C>T ENST00000341552.5 - 28 4559 c.4476G>A c.(4474-4476)ggG>ggA p.G1492G AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Silent_p.G1492G|CCDC108_ENST00000441968.1_Silent_p.G1492G NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1492 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAGCCACCACCCCTATCATGG 0.532000 6 49 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784075 9784075 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:9784075C>G ENST00000304374.2 + 1 818 c.422C>G c.(421-423)gCc>gGc p.A141G NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 141 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CGCTACTGGGCCATCTCCAGG 0.592000 4 47 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42532740 42532740 + Silent SNP T T G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:42532740T>G ENST00000282030.5 + 4 3731 c.3435T>G c.(3433-3435)ggT>ggG p.G1145G NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 1145 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TGTCCAGTGGTCGGCTCCATA 0.537000 Schinzel-Giedion syndrome 8 60 0 0 1 0 0 SMAP1 60682 broad.mit.edu 37 6 71562245 71562245 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:71562245G>T ENST00000370455.3 + 8 915 c.667G>T c.(667-669)Ggc>Tgc p.G223C SMAP1_ENST00000370452.3_Missense_Mutation_p.G196C|SMAP1_ENST00000316999.5_Missense_Mutation_p.G196C NM_001044305.1 NP_001037770.1 Q8IYB5 SMAP1_HUMAN small ArfGAP 1 223 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1) 15 CTTTTCAGATGGCCCTGCTGT 0.388000 24 101 1.10923e-09 1.82169e-09 1 1 0 DUSP22 56940 broad.mit.edu 37 6 348194 348194 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:348194C>A ENST00000604971.1 + 3 1159 c.46C>A c.(46-48)Cgt>Agt p.R16S DUSP22_ENST00000605863.1_Missense_Mutation_p.R16S|DUSP22_ENST00000344450.5_Missense_Mutation_p.R119S|DUSP22_ENST00000603453.1_Missense_Mutation_p.R16S|DUSP22_ENST00000419235.2_Missense_Mutation_p.R119S|DUSP22_ENST00000605315.1_Missense_Mutation_p.R16S|DUSP22_ENST00000605035.1_Missense_Mutation_p.R16S Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 119 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) GCACACCGTGCGTGCTGGGAG 0.602000 16 190 3.32936e-07 4.81232e-07 1 1 0 ITGAX 3687 broad.mit.edu 37 16 31371783 31371783 + Splice_Site SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:31371783G>T ENST00000268296.4 + 8 981 c.861_splice c.e8+1 p.G287_splice ITGAX_ENST00000562522.1_Splice_Site_p.G287_splice NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 287 VWFA. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 TATGCAATTGGGGTAGGGCGT 0.522000 10 60 1.76689e-08 2.75531e-08 1 1 0 NT5C1A 84618 broad.mit.edu 37 1 40128993 40128993 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:40128993T>A ENST00000235628.1 - 4 546 c.547A>T c.(547-549)Att>Ttt p.I183F NM_032526.1 NP_115915.1 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 183 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2) 15 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CCCTCATCAATGGCTTCTCGC 0.547000 10 63 0 0 1 0 0 GLYAT 10249 broad.mit.edu 37 11 58482882 58482882 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:58482882G>T ENST00000344743.3 - 3 237 c.96C>A c.(94-96)gtC>gtA p.V32V GLYAT_ENST00000529732.1_Silent_p.V32V|GLYAT_ENST00000278400.3_Silent_p.V32V NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 32 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) TTATGTGAAAGACAGTTCCAT 0.388000 7 59 0.0381472 0.0400654 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25425501 25425501 + RNA SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:25425501G>T ENST00000441592.2 + 0 489 CTGGCCCCAGGCCAGTGTCTC 0.602000 8 48 1.06961e-07 1.61367e-07 1 1 0 HOXA2 3199 broad.mit.edu 37 7 27141788 27141788 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:27141788G>A ENST00000222718.5 - 1 642 c.332C>T c.(331-333)cCg>cTg p.P111L NM_006735.3 NP_006726.1 O43364 HXA2_HUMAN homeobox A2 111 nucleus sequence-specific DNA binding transcription factor activity breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 22 ggcggcggcCGGCAGAAGTGC 0.716000 3 9 0 0 1 0 0 RNASE11 122651 broad.mit.edu 37 14 21052373 21052373 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:21052373C>A ENST00000335950.4 - 3 723 c.261G>T c.(259-261)aaG>aaT p.K87N RNASE11_ENST00000555841.1_Missense_Mutation_p.K87N|RNASE11_ENST00000553849.1_Missense_Mutation_p.K87N|RNASE11_ENST00000432835.2_Missense_Mutation_p.K87N|RNASE11_ENST00000398009.2_Missense_Mutation_p.K87N|RNASE11_ENST00000398008.2_Missense_Mutation_p.K87N NM_145250.3 NP_660293.1 Q8TAA1 RNS11_HUMAN ribonuclease, RNase A family, 11 (non-active) 87 extracellular region nucleic acid binding|pancreatic ribonuclease activity endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) AACTGTTTCCCTTGGGGTCAT 0.413000 39 215 6.57855e-14 1.2365e-13 1 1 0 TTF1 7270 broad.mit.edu 37 9 135267595 135267595 + Splice_Site SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:135267595T>A ENST00000334270.2 - 6 1896 c.e6-2 NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) TCGCTATACCTAGGAGAAAGG 0.438000 4 36 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48618579 48618579 + Silent SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:48618579T>A ENST00000328333.8 - 52 5018 c.4911A>T c.(4909-4911)ggA>ggT p.G1637G COL7A1_ENST00000454817.1_Silent_p.G1637G NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1637 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CACCTTTCTCTCCAACTTCAC 0.562000 5 7 0 0 1 0 0 PGBD2 267002 broad.mit.edu 37 1 249211883 249211883 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:249211883G>A ENST00000355360.4 + 3 617 c.347G>A c.(346-348)gGg>gAg p.G116E PGBD2_ENST00000539153.1_Missense_Mutation_p.G364E|PGBD2_ENST00000329291.5_Missense_Mutation_p.G367E NM_001017434.1 NP_001017434.1 Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 367 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AGGAAAAAGGGGGTGAAAGCC 0.423000 13 127 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25331761 25331761 + RNA SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:25331761G>A ENST00000546682.1 + 0 453 SNORD116-19_ENST00000384729.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA NR_003361.1 GTCGAACTGAGGTCCAGCACA 0.473000 32 205 0 0 1 0 0 OR4K13 390433 broad.mit.edu 37 14 20502645 20502645 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:20502645G>T ENST00000315693.2 - 1 274 c.273C>A c.(271-273)acC>acA p.T91T NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) ACCATGAGATGGTCTTACGTT 0.448000 11 60 2.27111e-07 3.32483e-07 1 1 0 ZEB2 9839 broad.mit.edu 37 2 145147080 145147080 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:145147080C>A ENST00000558170.2 - 10 4767 c.3583G>T c.(3583-3585)Gag>Tag p.E1195* ZEB2_ENST00000409487.3_Nonsense_Mutation_p.E1195*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.E1171*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.E1195* NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 1195 Glu-rich (acidic). cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) TTCCCATCCTCCGAACTATCG 0.403000 30 235 2.23313e-29 4.59962e-29 1 1 0 ANKRD35 148741 broad.mit.edu 37 1 145562448 145562448 + Silent SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:145562448A>G ENST00000355594.4 + 10 2223 c.2136A>G c.(2134-2136)ctA>ctG p.L712L NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 712 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CCGCAGACCTAGTGGGCGAGA 0.667000 7 34 0 0 1 0 0 KRT7 3855 broad.mit.edu 37 12 52635404 52635404 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:52635404C>T ENST00000331817.5 + 5 1025 c.842C>T c.(841-843)gCc>gTc p.A281V NM_005556.3 NP_005547.3 P08729 K2C7_HUMAN keratin 7 281 Coil 2.|Rod. cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(357;0.105) GAGGCTGAAGCCTGGTACCAG 0.592000 15 63 0 0 1 0 0 DUSP23 54935 broad.mit.edu 37 1 159751965 159751965 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:159751965T>C ENST00000368107.1 + 2 388 c.290T>C c.(289-291)cTg>cCg p.L97P DUSP23_ENST00000368108.3_Missense_Mutation_p.L97P|DUSP23_ENST00000368109.1_Missense_Mutation_p.L97P Q9BVJ7 DUS23_HUMAN dual specificity phosphatase 23 97 Tyrosine-protein phosphatase. cytosol|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity lung(1) 1 all_hematologic(112;0.0537) CACTGTGCTCTGGGCTTTGGC 0.617000 4 59 0 0 1 0 0 LARP1 23367 broad.mit.edu 37 5 154174747 154174747 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:154174747C>G ENST00000336314.4 + 8 1038 c.1014C>G c.(1012-1014)ttC>ttG p.F338L NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 415 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AATACTACTTCAGCGTGGACA 0.478000 8 84 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111748359 111748359 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:111748359C>A ENST00000261726.6 + 15 1927 c.1773C>A c.(1771-1773)atC>atA p.I591I NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 591 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 TCAGCGAGATCCTAGCCCGGC 0.607000 15 90 1.15088e-07 1.71878e-07 1 1 0 ATHL1 80162 broad.mit.edu 37 11 293192 293192 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:293192G>T ENST00000409548.2 + 8 1415 c.1300G>T c.(1300-1302)Ggg>Tgg p.G434W ATHL1_ENST00000409655.1_Missense_Mutation_p.G257W|ATHL1_ENST00000409479.1_Missense_Mutation_p.G461W NM_025092.4 NP_079368.3 Q32M88 ATHL1_HUMAN ATH1, acid trehalase-like 1 (yeast) 434 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3) 17 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) GTACCATTCAGGGGTCAACAA 0.607000 20 112 8.10497e-08 1.23279e-07 1 1 0 CA12 771 broad.mit.edu 37 15 63618539 63618539 + Missense_Mutation SNP T T G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:63618539T>G ENST00000178638.3 - 11 1450 c.1010A>C c.(1009-1011)aAc>aCc p.N337T CA12_ENST00000560666.1_5'UTR|CA12_ENST00000344366.3_Missense_Mutation_p.N326T|CA12_ENST00000422263.2_Missense_Mutation_p.N266T NM_001218.3 NP_001209.1 O43570 CAH12_HUMAN carbonic anhydrase XII 337 one-carbon metabolic process integral to membrane carbonate dehydratase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 16 Acetazolamide(DB00819) GACTCCCTTGTTATCACCTTT 0.522000 12 68 0 0 1 0 0 MYOC 4653 broad.mit.edu 37 1 171605316 171605316 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:171605316G>T ENST00000037502.5 - 3 1323 c.1264C>A c.(1264-1266)Cgt>Agt p.R422S NM_000261.1 NP_000252.1 Q99972 MYOC_HUMAN myocilin, trabecular meshwork inducible glucocorticoid response 422 Olfactomedin-like. R -> C.|R -> H (in GLC1A). anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) GACTGCTTACGGATGTTTGTC 0.507000 24 134 1.64293e-13 3.06474e-13 1 1 0 KRT31 3881 broad.mit.edu 37 17 39553678 39553678 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:39553678G>A ENST00000251645.2 - 1 166 c.114C>T c.(112-114)ccC>ccT p.P38P NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 38 Head. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) TCACATTGGCGGGGATGTTGC 0.657000 12 82 0 0 1 0 0 CHRD 8646 broad.mit.edu 37 3 184103931 184103931 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:184103931G>A ENST00000204604.1 + 15 2162 c.1916G>A c.(1915-1917)gGg>gAg p.G639E CHRD_ENST00000545352.1_Missense_Mutation_p.G269E|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.G639E|CHRD_ENST00000348986.3_Missense_Mutation_p.G599E NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 639 CHRD 4. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGCCCCAGAGGGGAGCTCCGA 0.647000 8 54 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240370354 240370354 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:240370354C>A ENST00000319653.9 + 5 2472 c.2242C>A c.(2242-2244)Ccc>Acc p.P748T NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 748 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) ACAGACTTCCCCCACGGAAGA 0.562000 17 63 9.16793e-09 1.45257e-08 1 1 0 TMEFF1 8577 broad.mit.edu 37 9 103275609 103275609 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:103275609G>T ENST00000374879.4 + 4 889 c.457G>T c.(457-459)Gaa>Taa p.E153* TMEFF1_ENST00000334943.6_Nonsense_Mutation_p.E114*|MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.R116I NM_003692.4 NP_003683.2 transmembrane protein with EGF-like and two follistatin-like domains 1 NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1) 19 Acute lymphoblastic leukemia(62;0.0452) TGGATCTGGAGAAGGAGGTAA 0.269000 17 80 0.000566183 0.00066323 1 1 0 KRT33B 3884 broad.mit.edu 37 17 39521469 39521469 + Silent SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:39521469T>C ENST00000251646.3 - 5 883 c.834A>G c.(832-834)acA>acG p.T278T NM_002279.4 NP_002270.1 Q14525 KT33B_HUMAN keratin 33B 278 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000496) GGGCATTGACTGTGCGTCTCA 0.587000 7 140 0 0 1 0 0 ZIC4 84107 broad.mit.edu 37 3 147120600 147120600 + Splice_Site SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:147120600C>A ENST00000383075.3 - 2 498 c.e2-1 ZIC4_ENST00000425731.3_Splice_Site|ZIC4_ENST00000525172.2_Splice_Site|ZIC4_ENST00000473123.1_Splice_Site|ZIC4_ENST00000484399.1_Splice_Site|ZIC4_ENST00000491672.1_Splice_Site NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 GACTTTGAGCCTGTTTGGGAA 0.383000 20 97 2.37509e-13 4.42495e-13 1 1 0 CDR1 1038 broad.mit.edu 37 X 139866052 139866052 + Silent SNP G G T rs146276960 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:139866052G>T ENST00000370532.2 - 1 671 c.480C>A c.(478-480)tcC>tcA p.S160S NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 160 6 X 6 AA approximate repeats. p.S160S(1) breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) CAAGTCTTCCGGATAATTTGG 0.443000 41 248 2.66277e-13 4.9361e-13 1 1 0 ANKRD17 26057 broad.mit.edu 37 4 73964199 73964199 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:73964199T>A ENST00000358602.4 - 26 4728 c.4612A>T c.(4612-4614)Acc>Tcc p.T1538S ANKRD17_ENST00000509867.2_Missense_Mutation_p.T1425S|ANKRD17_ENST00000330838.6_Missense_Mutation_p.T1287S NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 1538 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GTAGTAGTGGTTGTGGCACTT 0.383000 11 56 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433190 55433190 + Nonsense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:55433190T>A ENST00000314259.3 + 1 577 c.548T>A c.(547-549)tTg>tAg p.L183* NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TTTCAGTTGTTGACACTTGCC 0.423000 22 110 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75978942 75978942 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:75978942C>A ENST00000274364.6 + 29 3960 c.3663C>A c.(3661-3663)ctC>ctA p.L1221L IQGAP2_ENST00000396234.3_Silent_p.L717L|IQGAP2_ENST00000502745.1_Silent_p.L717L|IQGAP2_ENST00000379730.3_Silent_p.L723L NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1221 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) ACATAAAGCTCCTGTTGGAAC 0.393000 18 75 1.56452e-12 2.84686e-12 1 1 0 TMEM132D 121256 broad.mit.edu 37 12 130184741 130184741 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:130184741G>T ENST00000422113.2 - 2 908 c.582C>A c.(580-582)gcC>gcA p.A194A NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 194 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GCTCCAGCTCGGCCACGCACA 0.701000 5 31 1 1 1 1 0 C7orf60 154743 broad.mit.edu 37 7 112462131 112462131 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:112462131C>G ENST00000297145.4 - 5 1051 c.886G>C c.(886-888)Gct>Cct p.A296P NM_152556.2 NP_689769.2 Q1RMZ1 CG060_HUMAN chromosome 7 open reading frame 60 296 breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 17 GACTCTATAGCAATCTTCCAG 0.383000 19 81 0 0 1 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71532568 71532568 + Silent SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:71532568T>A ENST00000265382.3 + 9 1181 c.876T>A c.(874-876)ccT>ccA p.P292P PIP5K1B_ENST00000541509.1_Silent_p.P292P NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 292 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) AAAATGTGCCTGATGCTAAGC 0.468000 16 237 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170112653 170112653 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:170112653C>T ENST00000263816.3 - 19 3018 c.2733G>A c.(2731-2733)gaG>gaA p.E911E LRP2_ENST00000443831.1_Silent_p.E774E NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 911 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) GTGTCATCTGCTCTATATGGC 0.358000 16 66 0 0 1 0 0 ARHGAP6 395 broad.mit.edu 37 X 11207002 11207002 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:11207002G>T ENST00000337414.4 - 4 1795 c.923C>A c.(922-924)gCa>gAa p.A308E ARHGAP6_ENST00000303025.6_Missense_Mutation_p.A105E|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.A308E|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.A133E|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.A117E|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.A340E|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.A105E NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 308 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 AAAGTCAGATGCATCTTTCTG 0.463000 16 57 3.45872e-05 4.384e-05 1 1 0 RFWD2 64326 broad.mit.edu 37 1 176015374 176015374 + Missense_Mutation SNP T T G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:176015374T>G ENST00000367669.3 - 12 1878 c.1364A>C c.(1363-1365)cAg>cCg p.Q455P RFWD2_ENST00000308769.8_Missense_Mutation_p.Q431P NM_022457.5 NP_071902.2 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2, E3 ubiquitin protein ligase 455 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 CACTGCATCCTGGATGACAGT 0.358000 8 124 0 0 1 0 0 OR2T27 403239 broad.mit.edu 37 1 248813508 248813508 + Nonsense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:248813508A>T ENST00000344889.3 - 1 677 c.678T>A c.(676-678)taT>taA p.Y226* NM_001001824.1 NP_001001824.1 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, member 27 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CGCTCATCCTATAAACAGTAA 0.512000 4 20 0 0 1 0 0 SETD3 84193 broad.mit.edu 37 14 99865278 99865278 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:99865278C>A ENST00000331768.5 - 13 1682 c.1523G>T c.(1522-1524)gGg>gTg p.G508V NM_032233.2 NP_115609.2 Q86TU7 SETD3_HUMAN SET domain containing 3 508 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) CTCCAACAGCCCAAGGTTACT 0.537000 16 228 1.5739e-10 2.69525e-10 1 1 0 SLC12A2 6558 broad.mit.edu 37 5 127420130 127420130 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:127420130G>T ENST00000262461.2 + 1 673 c.484G>T c.(484-486)Gtc>Ttc p.V162F SLC12A2_ENST00000343225.4_Missense_Mutation_p.V162F NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 162 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) TGCTGCCGGGGTCGGAGTCGA 0.692000 4 19 1.23904e-05 1.602e-05 1 1 0 GTF3C1 2975 broad.mit.edu 37 16 27499898 27499898 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:27499898C>A ENST00000356183.4 - 22 3503 c.3488G>T c.(3487-3489)cGc>cTc p.R1163L GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1163L NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1163 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 GGGCATTGGGCGCTTGGACAG 0.532000 16 106 1.67942e-08 2.63832e-08 1 1 0 TMEM255B 348013 broad.mit.edu 37 13 114514732 114514732 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr13:114514732G>A ENST00000375353.3 + 9 864 c.837G>A c.(835-837)gcG>gcA p.A279A TMEM255B_ENST00000467169.1_3'UTR NM_182614.2 NP_872420.1 transmembrane protein 255B TCCCAGTTGCGCCCTCCTCTG 0.647000 8 48 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906283 164906283 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:164906283C>A ENST00000475390.1 - 2 2779 c.2336G>T c.(2335-2337)gGt>gTt p.G779V SLITRK3_ENST00000241274.3_Missense_Mutation_p.G779V O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 779 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 TGTCCCTGGACCCCCACGTTC 0.562000 HNSCC(40;0.11) 16 93 4.7546e-09 7.61455e-09 1 1 0 SEC14L5 9717 broad.mit.edu 37 16 5042018 5042018 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:5042018G>T ENST00000251170.7 + 6 834 c.654G>T c.(652-654)gcG>gcT p.A218A NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 218 integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 CTCTGGAGGCGGTCAGTATGG 0.697000 3 9 1 1 1 1 0 CCDC84 338657 broad.mit.edu 37 11 118886114 118886114 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:118886114C>T ENST00000334418.1 + 10 959 c.903C>T c.(901-903)ggC>ggT p.G301G NM_198489.1 NP_940891.1 Q86UT8 CCD84_HUMAN coiled-coil domain containing 84 301 breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1) 5 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243) BRCA - Breast invasive adenocarcinoma(274;7.72e-05) CCTCTTTTGGCCGCGTCTGGA 0.552000 9 40 0 0 1 0 0 NTRK1 4914 broad.mit.edu 37 1 156849829 156849829 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:156849829G>T ENST00000368196.3 + 15 2187 c.2067G>T c.(2065-2067)ccG>ccT p.P689P NTRK1_ENST00000392302.2_Silent_p.P659P|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000524377.1_Silent_p.P695P|NTRK1_ENST00000358660.3_Silent_p.P692P NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 695 Protein kinase. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity 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) GCTGGATGCCGCCCGAGAGCA 0.647000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 11 71 3.86212e-05 4.82521e-05 1 1 0 MYL7 58498 broad.mit.edu 37 7 44180571 44180571 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:44180571C>A ENST00000458240.1 - 1 313 c.25G>T c.(25-27)Gag>Tag p.E9* MYL7_ENST00000223364.3_Nonsense_Mutation_p.E36*|MYL7_ENST00000434895.1_5'UTR Q01449 MLRA_HUMAN myosin, light chain 7, regulatory 36 actin filament-based movement|smooth muscle contraction A band|myosin complex ATPase activity, coupled|calcium ion binding|microfilament motor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 12 TCTTTGAACTCCTGTATCTGG 0.597000 7 58 8.12818e-05 9.91291e-05 1 1 0 HOXB2 3212 broad.mit.edu 37 17 46620951 46620951 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:46620951C>G ENST00000330070.4 - 2 1717 c.550G>C c.(550-552)Gaa>Caa p.E184Q HOXB-AS1_ENST00000504972.3_RNA NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 184 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 ACCTGCCTTTCGGTGAGGTCC 0.622000 14 64 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186670523 186670523 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:186670523C>G ENST00000343098.5 + 17 16757 c.16757C>G c.(16756-16758)gCa>gGa p.A5586G FSIP2_ENST00000424728.1_Missense_Mutation_p.A5497G NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TCTATAAATGCAATTATGAAA 0.338000 12 100 0 0 1 0 0 OR4D2 124538 broad.mit.edu 37 17 56247381 56247381 + Missense_Mutation SNP G G T rs142058863 byFrequency TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:56247381G>T ENST00000545221.1 + 1 365 c.365G>T c.(364-366)cGc>cTc p.R122L NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122H(1) breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 GCCTTTGACCGCCTCATTGCC 0.562000 36 128 3.76114e-14 7.09639e-14 1 1 0 SLCO4C1 353189 broad.mit.edu 37 5 101606405 101606405 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:101606405C>A ENST00000310954.6 - 3 1011 c.725G>T c.(724-726)gGa>gTa p.G242V NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 242 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) AGGAGTTCCTCCTGCCCCCAG 0.413000 13 61 4.93089e-13 9.11784e-13 1 1 0 AUTS2 26053 broad.mit.edu 37 7 70228239 70228239 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:70228239C>A ENST00000342771.4 + 7 1447 c.1126C>A c.(1126-1128)Cca>Aca p.P376T AUTS2_ENST00000406775.2_Missense_Mutation_p.P376T NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 376 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) TCAGAACCTCCCACCTGTGCA 0.637000 14 77 2.23348e-06 3.04435e-06 1 1 0 CPN1 1369 broad.mit.edu 37 10 101825118 101825118 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:101825118C>A ENST00000370418.3 - 4 837 c.586G>T c.(586-588)Gag>Tag p.E196* NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 196 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) GCCCGGGTCTCGGGTTCCACC 0.587000 3 31 0.00909568 0.00987474 1 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88886136 88886136 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:88886136C>A ENST00000319675.3 - 1 160 c.64G>T c.(64-66)Gga>Tga p.G22* NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 22 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 GCATTGAGTCCCACTCTGACT 0.522000 12 63 3.03607e-14 5.75767e-14 1 1 0 TGFB2 7042 broad.mit.edu 37 1 218609341 218609341 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:218609341G>T ENST00000366929.4 + 6 1335 c.868G>T c.(868-870)Ggt>Tgt p.G290C TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366930.4_Missense_Mutation_p.G262C NM_001135599.2 NP_001129071.1 P61812 TGFB2_HUMAN transforming growth factor, beta 2 262 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) ATATACCAGTGGTGATCAGAA 0.378000 12 107 0.00010058 0.000121664 1 1 0 DOK6 220164 broad.mit.edu 37 18 67508565 67508565 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:67508565G>T ENST00000382713.5 + 8 1132 c.942G>T c.(940-942)ccG>ccT p.P314P NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 314 insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) CCCAGCAGCCGTTGTCGCGGT 0.542000 8 110 0.000157383 0.000189601 1 1 0 KRT79 338785 broad.mit.edu 37 12 53216829 53216829 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:53216829G>T ENST00000330553.5 - 7 1372 c.1338C>A c.(1336-1338)taC>taA p.Y446* NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 446 Coil 2.|Rod. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GAAGCTTGCGGTAGGTGGCAA 0.657000 7 55 0.00198382 0.00224067 1 1 0 BIRC6 57448 broad.mit.edu 37 2 32673983 32673983 + Silent SNP A A C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:32673983A>C ENST00000421745.2 + 22 4739 c.4605A>C c.(4603-4605)tcA>tcC p.S1535S NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 1535 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TTGATTTATCAGATGTCCTTT 0.333000 11 55 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185731201 185731201 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:185731201G>A ENST00000302277.6 + 2 811 c.217G>A c.(217-219)Gac>Aac p.D73N NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 73 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 CCAGGAGTTTGACAATCACAT 0.368000 12 75 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44079902 44079902 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:44079902A>G ENST00000272286.2 + 6 949 c.859A>G c.(859-861)Acg>Gcg p.T287A NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 287 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CCTCCTGATGACGTCTGGCAC 0.587000 9 81 0 0 1 0 0 MIER3 166968 broad.mit.edu 37 5 56219845 56219845 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:56219845A>G ENST00000381226.3 - 11 979 c.964T>C c.(964-966)Tgt>Cgt p.C322R MIER3_ENST00000381213.3_Missense_Mutation_p.C316R|SETD9_ENST00000541720.1_Intron|MIER3_ENST00000409421.1_Missense_Mutation_p.C254R|MIER3_ENST00000381199.3_Missense_Mutation_p.C317R Q7Z3K6 MIER3_HUMAN mesoderm induction early response 1, family member 3 317 SANT. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1) 19 Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;1.24e-37) AATGCTACACACTCAGCAACT 0.338000 9 74 0 0 1 0 0 TWISTNB 221830 broad.mit.edu 37 7 19738309 19738309 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:19738309T>A ENST00000222567.5 - 4 717 c.647A>T c.(646-648)gAa>gTa p.E216V NM_001002926.1 NP_001002926.1 Q3B726 RPA43_HUMAN TWIST neighbor 216 microtubule cytoskeleton|nucleolus DNA-directed RNA polymerase activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 20 AGTGCCATTTTCTGTAACTTC 0.328000 16 141 0 0 1 0 0 TDRD1 56165 broad.mit.edu 37 10 115973184 115973184 + Silent SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:115973184A>T ENST00000251864.2 + 15 2064 c.1911A>T c.(1909-1911)acA>acT p.T637T TDRD1_ENST00000369282.1_Silent_p.T637T|TDRD1_ENST00000369280.1_Silent_p.T637T|TDRD1_ENST00000369281.2_Silent_p.T580T|TDRD1_ENST00000422662.1_Silent_p.T241T NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 637 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) AAATAATCACAGTGAAAGTGG 0.388000 26 109 0 0 1 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291650 141291650 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:141291650C>G ENST00000247452.3 - 3 471 c.124G>C c.(124-126)Gcc>Ccc p.A42P NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 42 Ser-rich. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) GTGGAAGAGGCGGAGGAGGCT 0.522000 HNSCC(46;0.14) 25 125 0 0 1 0 0 LPXN 9404 broad.mit.edu 37 11 58338125 58338125 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:58338125T>A ENST00000528489.1 - 2 296 c.62A>T c.(61-63)cAg>cTg p.Q21L LPXN_ENST00000395074.2_Silent_p.P25P|LPXN_ENST00000528954.1_Silent_p.P30P O60711 LPXN_HUMAN leupaxin 0 cell adhesion|protein complex assembly|signal transduction cytoplasm zinc ion binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) GAAGAGGAGCTGGGTTGGAAT 0.458000 7 59 0 0 1 0 0 ZNF624 57547 broad.mit.edu 37 17 16527375 16527375 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:16527375G>A ENST00000311331.7 - 6 916 c.825C>T c.(823-825)ccC>ccT p.P275P NM_020787.3 NP_065838.2 Q9P2J8 ZN624_HUMAN zinc finger protein 624 275 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 26 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TACATTTGTAGGGTTTTTCCT 0.343000 20 77 0 0 1 0 0 USP37 57695 broad.mit.edu 37 2 219360654 219360654 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:219360654C>A ENST00000258399.3 - 14 1713 c.1301G>T c.(1300-1302)aGt>aTt p.S434I USP37_ENST00000454775.1_Missense_Mutation_p.S434I|USP37_ENST00000418019.1_Missense_Mutation_p.S434I|USP37_ENST00000415516.1_Missense_Mutation_p.S362I NM_020935.2 NP_065986.2 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 434 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) CAAACACTGACTTAAAAATTC 0.348000 4 70 2.56e-06 3.47663e-06 1 1 0 BARHL2 343472 broad.mit.edu 37 1 91180296 91180296 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:91180296C>A ENST00000370445.4 - 2 684 c.643G>T c.(643-645)Gac>Tac p.D215Y NM_020063.1 NP_064447.1 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 215 nucleus sequence-specific DNA binding cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) ATCTCCCGGTCTCCTTCCTCC 0.532000 16 134 3.99206e-14 7.51297e-14 1 1 0 TGFBR1 7046 broad.mit.edu 37 9 101894847 101894847 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:101894847G>T ENST00000374994.4 + 3 517 c.400G>T c.(400-402)Gtg>Ttg p.V134L TGFBR1_ENST00000374990.2_Intron|TGFBR1_ENST00000550253.1_Missense_Mutation_p.V65L|TGFBR1_ENST00000552516.1_Missense_Mutation_p.V138L NM_004612.2 NP_004603.1 P36897 TGFR1_HUMAN transforming growth factor, beta receptor 1 134 activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 27 Acute lymphoblastic leukemia(62;0.0559) TGCTGGACCAGTGTGCTTCGT 0.473000 7 108 1.76689e-08 2.75531e-08 1 1 0 EDEM2 55741 broad.mit.edu 37 20 33703722 33703722 + Silent SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:33703722T>A ENST00000374492.3 - 11 1356 c.1251A>T c.(1249-1251)cgA>cgT p.R417R EDEM2_ENST00000541621.1_Silent_p.R196R|EDEM2_ENST00000542871.1_Silent_p.R141R|EDEM2_ENST00000374491.2_Silent_p.R380R NM_018217.2 NP_060687.2 Q9BV94 EDEM2_HUMAN ER degradation enhancer, mannosidase alpha-like 2 417 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 22 BRCA - Breast invasive adenocarcinoma(18;0.00936) GCTTGTGGTCTCGCAGATCTT 0.488000 12 57 0 0 1 0 0 SLC4A11 83959 broad.mit.edu 37 20 3209279 3209279 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:3209279A>G ENST00000380059.3 - 18 2497 c.2396T>C c.(2395-2397)cTg>cCg p.L799P SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Missense_Mutation_p.L756P|SLC4A11_ENST00000380056.3_Missense_Mutation_p.L772P NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 772 Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 CGGGACCGGCAGCAGCAACAG 0.667000 9 62 0 0 1 0 0 OR5M10 390167 broad.mit.edu 37 11 56344315 56344315 + Nonsense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:56344315T>A ENST00000526812.2 - 1 948 c.883A>T c.(883-885)Aga>Tga p.R295* NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 ATTACATCTCTGTTCCGTAGG 0.398000 50 274 0 0 1 0 0 OR5D14 219436 broad.mit.edu 37 11 55563154 55563154 + Silent SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:55563154G>C ENST00000335605.1 + 1 123 c.123G>C c.(121-123)gtG>gtC p.V41V NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) TTATCACAGTGGTAGGAAACC 0.393000 33 129 0 0 1 0 0 PLOD3 8985 broad.mit.edu 37 7 100859293 100859293 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:100859293C>A ENST00000223127.3 - 5 909 c.511G>T c.(511-513)Ggt>Tgt p.G171C NM_001084.4 NP_001075.1 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 171 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) GTGGCAAAACCGATGAATCCT 0.602000 24 36 6.44725e-10 1.0743e-09 1 1 0 LRRC37A16P 651250 broad.mit.edu 37 17 66126551 66126551 + RNA SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:66126551G>T ENST00000590019.1 - 0 298 CCACAGGGCTGGGCAGAAAGG 0.488000 9 59 1.12685e-05 1.46718e-05 1 1 0 FAM149A 25854 broad.mit.edu 37 4 187086525 187086525 + Silent SNP C C T rs143165577 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:187086525C>T ENST00000356371.5 + 11 1944 c.1944C>T c.(1942-1944)tcC>tcT p.S648S FAM149A_ENST00000502970.1_Silent_p.S357S|FAM149A_ENST00000227065.4_Silent_p.S357S|FAM149A_ENST00000389354.5_Silent_p.S357S|FAM149A_ENST00000503432.1_Silent_p.S357S|FAM149A_ENST00000514153.1_Silent_p.S357S A5PLN7 F149A_HUMAN family with sequence similarity 149, member A 648 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2) 25 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166) ACATGGCTTCCCCACTGGTTC 0.557000 20 52 0 0 1 0 0 OTUD7A 161725 broad.mit.edu 37 15 31776742 31776742 + Silent SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:31776742G>C ENST00000382902.1 - 11 1649 c.1557C>G c.(1555-1557)tcC>tcG p.S519S OTUD7A_ENST00000307050.4_Silent_p.S512S Q8TE49 OTU7A_HUMAN OTU domain containing 7A 512 cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) TGTTGGCCACGGAGTCGGCGC 0.592000 6 28 0 0 1 0 0 DCAKD 79877 broad.mit.edu 37 17 43111635 43111635 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:43111635C>A ENST00000452796.2 - 2 491 c.236G>T c.(235-237)cGg>cTg p.R79L DCAKD_ENST00000342350.5_Missense_Mutation_p.R79L|DCAKD_ENST00000310604.4_Missense_Mutation_p.R79L|DCAKD_ENST00000588499.1_Missense_Mutation_p.R79L|DCAKD_ENST00000588295.1_5'UTR Q8WVC6 DCAKD_HUMAN dephospho-CoA kinase domain containing 79 DPCK. coenzyme A biosynthetic process ATP binding|dephospho-CoA kinase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1) 6 Prostate(33;0.155) CAGCTGCCGCCGGTCAGGCTG 0.597000 12 62 0.00136819 0.0015572 1 1 0 MC5R 4161 broad.mit.edu 37 18 13826140 13826140 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:13826140G>T ENST00000324750.3 + 1 598 c.376G>T c.(376-378)Gtg>Ttg p.V126L NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 126 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding p.V126L(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 CTGCATTTCCGTGGTGGCATC 0.527000 13 106 2.61681e-11 4.57095e-11 1 1 0 SYNE2 23224 broad.mit.edu 37 14 64604632 64604632 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:64604632G>T ENST00000357395.3 + 80 15073 c.3929G>T c.(3928-3930)tGg>tTg p.W1310L SYNE2_ENST00000555002.1_Missense_Mutation_p.W1559L|SYNE2_ENST00000344113.4_Missense_Mutation_p.W4925L|SYNE2_ENST00000554584.1_Missense_Mutation_p.W4842L|SYNE2_ENST00000358025.3_Missense_Mutation_p.W4925L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.W1310L Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4925 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) GAAGAGCAGTGGTTGTCCCTG 0.517000 7 47 1.06961e-07 1.61367e-07 1 1 0 RBFOX1 54715 broad.mit.edu 37 16 7645557 7645557 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:7645557G>T ENST00000340209.4 + 5 787 c.490G>T c.(490-492)Ggt>Tgt p.G164C RBFOX1_ENST00000355637.4_Missense_Mutation_p.G179C|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000547372.1_Missense_Mutation_p.G202C|RBFOX1_ENST00000436368.2_Missense_Mutation_p.G179C|RBFOX1_ENST00000553186.1_Missense_Mutation_p.G159C|RBFOX1_ENST00000552089.1_Missense_Mutation_p.G176C|RBFOX1_ENST00000550418.1_Missense_Mutation_p.G159C|RBFOX1_ENST00000422070.4_Missense_Mutation_p.G202C|RBFOX1_ENST00000547338.1_Missense_Mutation_p.G159C|RBFOX1_ENST00000311745.5_Missense_Mutation_p.G179C Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 159 RRM. mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 GCAGGGATTTGGTTTCGTAAC 0.448000 24 118 1.1804e-14 2.24715e-14 1 1 0 DYTN 391475 broad.mit.edu 37 2 207564607 207564607 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:207564607C>G ENST00000452335.2 - 7 679 c.563G>C c.(562-564)aGc>aCc p.S188T DYTN_ENST00000477734.1_5'UTR NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 188 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) GATTGCTGGGCTCAACACCTG 0.453000 8 39 0 0 1 0 0 KRT83 3889 broad.mit.edu 37 12 52714815 52714815 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:52714815G>A ENST00000293670.3 - 1 367 c.305C>T c.(304-306)cCc>cTc p.P102L NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 102 Head. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CTGCGCGTTGGGGTCTATCTC 0.632000 24 124 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18023380 18023380 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:18023380C>G ENST00000205890.5 + 2 1604 c.1266C>G c.(1264-1266)caC>caG p.H422Q NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 422 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CGTCGCCCCACAACCCGTATG 0.667000 11 48 0 0 1 0 0 RNF113B 140432 broad.mit.edu 37 13 98829158 98829158 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr13:98829158G>T ENST00000267291.6 - 1 361 c.333C>A c.(331-333)acC>acA p.T111T FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron NM_178861.4 NP_849192.1 Q8IZP6 R113B_HUMAN ring finger protein 113B 111 nucleic acid binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) CGAAGTCAGCGGTGGCCCCCA 0.692000 9 55 1.76689e-08 2.75531e-08 1 1 0 OR4N2 390429 broad.mit.edu 37 14 20296046 20296046 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:20296046G>A ENST00000568211.1 + 1 439 c.439G>A c.(439-441)Gct>Act p.A147T OR4N2_ENST00000315947.1_Missense_Mutation_p.A147T Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AATGATGTTGGCTCTGTGGCT 0.522000 28 329 0 0 1 0 0 OR2G2 81470 broad.mit.edu 37 1 247751892 247751892 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:247751892C>A ENST00000320065.1 + 1 231 c.231C>A c.(229-231)acC>acA p.T77T RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GCTGCTTCACCAGCAGTGTTA 0.493000 25 165 5.45024e-15 1.04159e-14 1 1 0 ZNHIT6 54680 broad.mit.edu 37 1 86173680 86173680 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:86173680C>A ENST00000370574.3 - 1 421 c.288G>T c.(286-288)tgG>tgT p.W96C ZNHIT6_ENST00000431532.2_Intron Q9NWK9 BCD1_HUMAN zinc finger, HIT-type containing 6 96 Glu-rich. box C/D snoRNP assembly|ribosome biogenesis pre-snoRNP complex identical protein binding|metal ion binding autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1) 17 CCTGTTCTACCCACTGGCCAG 0.512000 13 80 0.00010058 0.000121664 1 1 0 MAGEC1 9947 broad.mit.edu 37 X 140996282 140996282 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:140996282G>T ENST00000285879.4 + 4 3378 c.3092G>T c.(3091-3093)gGg>gTg p.G1031V MAGEC1_ENST00000406005.2_Missense_Mutation_p.G98V NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1031 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GTGCGTGCTGGGAGGGAGCAC 0.537000 HNSCC(15;0.026) 21 105 3.51602e-12 6.30502e-12 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25463835 25463835 + RNA SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:25463835C>T ENST00000424208.1 + 0 2994 SNHG14_ENST00000453082.2_RNA|SNHG14_ENST00000365067.1_RNA NR_003305.1 AATAGGATTACGCTGAGGCCC 0.537000 55 287 0 0 1 0 0 GRB7 2886 broad.mit.edu 37 17 37898958 37898958 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:37898958A>T ENST00000309156.4 + 3 552 c.295A>T c.(295-297)Agc>Tgc p.S99C GRB7_ENST00000309185.3_Missense_Mutation_p.S99C|GRB7_ENST00000394204.1_Missense_Mutation_p.S99C|GRB7_ENST00000394209.2_Missense_Mutation_p.S99C|GRB7_ENST00000394211.3_Missense_Mutation_p.S99C|GRB7_ENST00000445327.2_Missense_Mutation_p.S122C|GRB7_ENST00000578702.1_3'UTR NM_005310.3 NP_005301.2 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 99 blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CCGCGATGCCAGCCGCCCCCA 0.642000 12 71 0 0 1 0 0 ADGRG6 57211 broad.mit.edu 37 6 142691532 142691532 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:142691532T>A ENST00000230173.6 + 4 1147 c.671T>A c.(670-672)cTa>cAa p.L224Q GPR126_ENST00000367608.2_Missense_Mutation_p.L224Q|GPR126_ENST00000296932.8_Missense_Mutation_p.L224Q|GPR126_ENST00000367609.3_Missense_Mutation_p.L224Q|GPR126_ENST00000545477.1_Intron NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 224 Pentaxin. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) GGCTACTTTCTATCCATTTCT 0.388000 6 42 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 96962846 96962846 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:96962846C>T ENST00000389672.5 + 5 1359 c.1321C>T c.(1321-1323)Ctt>Ttt p.L441F EPHA6_ENST00000470610.2_Missense_Mutation_p.L441F NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 346 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TGAAACAGCCCTTATTTTGGA 0.398000 5 28 0 0 1 0 0 DHX15 1665 broad.mit.edu 37 4 24572338 24572338 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:24572338C>A ENST00000336812.4 - 3 796 c.640G>T c.(640-642)Ggc>Tgc p.G214C NM_001358.2 NP_001349.2 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 15 214 Helicase ATP-binding. mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 30 Breast(46;0.0503) ACTTCCTGGCCCAACATCACA 0.458000 13 93 0.00136819 0.0015572 1 1 0 HERC6 55008 broad.mit.edu 37 4 89358919 89358919 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:89358919G>T ENST00000380265.5 + 19 2616 c.2433G>T c.(2431-2433)gtG>gtT p.V811V HERC6_ENST00000264346.7_Silent_p.V847V NM_001165136.1 NP_001158608.1 Q8IVU3 HERC6_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 847 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) CCATACCTGTGGACCAAACCA 0.303000 4 12 0.150653 0.154188 1 1 0 HFM1 164045 broad.mit.edu 37 1 91781504 91781504 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:91781504G>T ENST00000370425.3 - 28 3106 c.3008C>A c.(3007-3009)gCa>gAa p.A1003E HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.A235E|HFM1_ENST00000370424.3_Missense_Mutation_p.A682E NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 1003 SEC63. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TAATATTTCTGCCGTCGTATC 0.318000 4 31 0.00024832 0.000296266 1 1 0 GLP2R 9340 broad.mit.edu 37 17 9792969 9792969 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:9792969G>T ENST00000262441.5 + 13 2122 c.1609G>T c.(1609-1611)Gat>Tat p.D537Y GLP2R_ENST00000574745.1_Missense_Mutation_p.D357Y NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 537 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane p.D537Y(1) endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) CAGTGAGGGGGATGTCACCAT 0.632000 6 15 5.9392e-07 8.50177e-07 1 1 0 ANK2 287 broad.mit.edu 37 4 114251464 114251464 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:114251464G>T ENST00000357077.4 + 27 3016 c.2963G>T c.(2962-2964)gGg>gTg p.G988V ANK2_ENST00000509550.1_Missense_Mutation_p.G197V|ANK2_ENST00000264366.6_Missense_Mutation_p.G988V|ANK2_ENST00000394537.3_Missense_Mutation_p.G988V|ANK2_ENST00000506722.1_Missense_Mutation_p.G979V NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 988 Interaction with SPTBN1.|ZU5. 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) AGACACAATGGGCTCCGAATC 0.463000 8 32 0.307466 0.310185 1 1 0 DET1 55070 broad.mit.edu 37 15 89079562 89079562 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:89079562C>G ENST00000564406.1 - 2 164 c.4G>C c.(4-6)Gtg>Ctg p.V2L DET1_ENST00000558413.1_Intron|DET1_ENST00000559656.1_Intron|DET1_ENST00000444300.1_Missense_Mutation_p.V2L|DET1_ENST00000268148.8_Intron NM_017996.3 NP_060466.2 Q7L5Y6 DET1_HUMAN de-etiolated homolog 1 (Arabidopsis) 0 nucleus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) atctgtcccaccataccagag 0.378000 3 15 0 0 1 0 0 USP40 55230 broad.mit.edu 37 2 234463172 234463172 + Splice_Site SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:234463172C>A ENST00000251722.6 - 6 664 c.546_splice c.e6-1 p.E183_splice USP40_ENST00000450966.1_Splice_Site_p.E195_splice|USP40_ENST00000427112.2_Splice_Site_p.E183_splice Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 183 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) AAGAAGTCTTCCTGAAATAGA 0.318000 6 63 3.59834e-05 4.51849e-05 1 1 0 TENM4 26011 broad.mit.edu 37 11 78440540 78440540 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:78440540G>T ENST00000278550.7 - 22 3749 c.3287C>A c.(3286-3288)gCg>gAg p.A1096E NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 GCCCTCCACCGCTACCATGAG 0.557000 6 32 3.59834e-05 4.51849e-05 1 1 0 CSTL1 128817 broad.mit.edu 37 20 23424653 23424653 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:23424653G>A ENST00000347397.1 + 3 548 c.302G>A c.(301-303)tGc>tAc p.C101Y CSTL1_ENST00000246020.2_Missense_Mutation_p.C101Y NM_138283.1 NP_612140.1 Q9H114 CST1L_HUMAN cystatin-like 1 101 extracellular region cysteine-type endopeptidase inhibitor activity breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1) 14 Colorectal(13;0.0993)|Lung NSC(19;0.235) AATTCTTCCTGCCCCCTGCAA 0.463000 7 34 0 0 1 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21467516 21467516 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:21467516A>T ENST00000307378.6 - 5 1022 c.302T>A c.(301-303)tTc>tAc p.F101Y SLCO1A2_ENST00000452078.1_Missense_Mutation_p.F101Y|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.F99Y|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000458504.1_Intron NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 101 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 TGATTTTAAGAAACAGCCTAA 0.368000 28 101 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71061515 71061515 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:71061515G>C ENST00000393567.2 - 20 3182 c.3032C>G c.(3031-3033)gCt>gGt p.A1011G HYDIN_ENST00000321489.5_Missense_Mutation_p.A1011G|HYDIN_ENST00000448691.1_Missense_Mutation_p.A1011G|HYDIN_ENST00000448089.2_Missense_Mutation_p.A1011G NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1011 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CCTGGGAGTAGCAGAATAGCC 0.473000 4 44 0 0 1 0 0 CYYR1 116159 broad.mit.edu 37 21 27852654 27852654 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr21:27852654G>C ENST00000299340.4 - 3 614 c.271C>G c.(271-273)Cac>Gac p.H91D CYYR1_ENST00000400043.3_Missense_Mutation_p.H91D|AP001597.1_ENST00000357401.3_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001597.1_ENST00000414486.1_RNA NM_052954.2 NP_443186.1 Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 91 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 GTCGCCCTGTGGTTCTTCATG 0.502000 14 95 0 0 1 0 0 MRI1 84245 broad.mit.edu 37 19 13876905 13876905 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:13876905C>A ENST00000040663.6 + 3 549 c.509C>A c.(508-510)aCt>aAt p.T170N MRI1_ENST00000319545.8_Intron NM_001031727.2 NP_001026897.1 Q9BV20 MTNA_HUMAN methylthioribose-1-phosphate isomerase 1 170 L-methionine salvage from methylthioadenosine cell projection|cytoplasm|nucleus identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 6 CACTGTAACACTGGTGCTCTG 0.607000 5 25 0.014758 0.0158251 1 1 0 S100A7 6278 broad.mit.edu 37 1 153430329 153430329 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:153430329G>T ENST00000368723.3 - 3 369 c.259C>A c.(259-261)Cac>Aac p.H87N S100A7_ENST00000368722.1_Missense_Mutation_p.H87N NM_002963.3 NP_002954.2 P31151 S10A7_HUMAN S100 calcium binding protein A7 87 angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus calcium ion binding|RAGE receptor binding|zinc ion binding breast(1)|large_intestine(2)|lung(5)|skin(2) 10 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) CTCTGCTTGTGGTAGTCTGTG 0.512000 16 132 2.94398e-08 4.56687e-08 1 1 0 U2AF1L4 199746 broad.mit.edu 37 19 36233657 36233657 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:36233657T>A ENST00000412391.2 - 8 639 c.626A>T c.(625-627)cAt>cTt p.H209L U2AF1L4_ENST00000378975.3_Missense_Mutation_p.H170L|AD000671.6_ENST00000589807.1_Intron|U2AF1L4_ENST00000292879.5_Missense_Mutation_p.I151F Q8WU68 U2AF4_HUMAN U2 small nuclear RNA auxiliary factor 1-like 4 209 mRNA processing|RNA splicing nuclear speck|spliceosomal complex nucleotide binding|RNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 8 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGAACACCGATGGTTCCTCTC 0.602000 18 98 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160523633 160523633 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:160523633G>T ENST00000356956.1 + 46 7073 c.6925G>T c.(6925-6927)Gtg>Ttg p.V2309L IGF2R_ENST00000475584.1_3'UTR NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 2309 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) AGTCGGCGCGGTGCTCAGCCT 0.662000 6 28 0.0215528 0.0228632 1 1 0 MYCBP2 23077 broad.mit.edu 37 13 77759467 77759467 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr13:77759467C>T ENST00000407578.2 - 32 4756 c.4490G>A c.(4489-4491)tGt>tAt p.C1497Y MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.C1459Y|MYCBP2_ENST00000357337.6_Missense_Mutation_p.C1459Y NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 1459 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TTTTCCAATACACTCTGCTAA 0.338000 14 152 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125052168 125052168 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:125052168G>T ENST00000522917.1 + 20 2716 c.2510G>T c.(2509-2511)gGc>gTc p.G837V FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.G837V|RP11-959I15.4_ENST00000522005.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 837 C2 3. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CAAGCCCGGGGCCTCATCGCA 0.502000 20 110 5.35267e-07 7.7068e-07 1 1 0 PCDHGA6 56109 broad.mit.edu 37 5 140754042 140754042 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:140754042C>A ENST00000517434.1 + 1 392 c.392C>A c.(391-393)cCc>cAc p.P131H PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACAATACACCCCGATTCTTA 0.443000 5 66 0.0293803 0.0309453 1 1 0 NAV3 89795 broad.mit.edu 37 12 78593118 78593118 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:78593118G>T ENST00000397909.2 + 37 6695 c.6522G>T c.(6520-6522)tgG>tgT p.W2174C NAV3_ENST00000541270.1_Missense_Mutation_p.W4C|NAV3_ENST00000536525.2_Missense_Mutation_p.W2152C|NAV3_ENST00000266692.7_Missense_Mutation_p.W1975C|NAV3_ENST00000228327.6_Missense_Mutation_p.W2152C Q8IVL0 NAV3_HUMAN neuron navigator 3 2174 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TTTGTAGGTGGGTATTATGTG 0.259000 HNSCC(70;0.22) 10 74 0.000673444 0.000778424 1 1 0 ALDH1L1 10840 broad.mit.edu 37 3 125826090 125826090 + Splice_Site SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:125826090C>G ENST00000393434.2 - 21 2697 c.e21-1 ALDH1L1_ENST00000452905.2_Splice_Site|ALDH1L1_ENST00000273450.3_Splice_Site|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000472186.1_Splice_Site|ALDH1L1_ENST00000393431.2_Splice_Site NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) AAGAAGAACCCTGCAAGAGAG 0.567000 19 98 0 0 1 0 0 MTMR1 8776 broad.mit.edu 37 X 149895727 149895727 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:149895727G>T ENST00000445323.2 + 5 514 c.393G>T c.(391-393)gtG>gtT p.V131V MTMR1_ENST00000542156.1_Silent_p.V123V|MTMR1_ENST00000544228.1_Silent_p.V123V|MTMR1_ENST00000538506.1_Silent_p.V10V|MTMR1_ENST00000541925.1_Silent_p.V29V|MTMR1_ENST00000451863.2_Silent_p.V123V|MTMR1_ENST00000370390.3_Silent_p.V123V Q13613 MTMR1_HUMAN myotubularin related protein 1 123 GRAM. plasma membrane protein tyrosine phosphatase activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) TGGGAGCAGTGAGTGGAACCC 0.368000 17 84 1.9806e-07 2.94017e-07 1 1 0 ERCC6-PGBD3 101243544 broad.mit.edu 37 10 50724389 50724389 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:50724389T>A ENST00000515869.1 - 6 2296 c.2176A>T c.(2176-2178)Atg>Ttg p.M726L ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000374127.3_Missense_Mutation_p.M258L|PGBD3_ENST00000508005.2_Missense_Mutation_p.M258L|PGBD3_ENST00000603152.1_Missense_Mutation_p.M726L|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.M726L NM_001277059.1 NP_001263988.1 ACAAATTTCATGCATCTCTCA 0.358000 4 45 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9577950 9577950 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:9577950T>C ENST00000301480.4 - 10 1886 c.1673A>G c.(1672-1674)tAt>tGt p.Y558C NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 558 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 TTTGGTAAGATATGAGCACTT 0.398000 26 100 0 0 1 0 0 CTAGE5 4253 broad.mit.edu 37 14 39772720 39772720 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:39772720G>A ENST00000553728.1 + 15 2773 c.2560G>A c.(2560-2562)Gct>Act p.A854T CTAGE5_ENST00000341502.5_Missense_Mutation_p.A319T|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.A290T|CTAGE5_ENST00000556148.1_Missense_Mutation_p.A244T|CTAGE5_ENST00000280083.3_Missense_Mutation_p.A319T|CTAGE5_ENST00000396165.4_Missense_Mutation_p.A290T|CTAGE5_ENST00000553352.1_Missense_Mutation_p.A290T|CTAGE5_ENST00000341749.3_Missense_Mutation_p.A307T|CTAGE5_ENST00000348007.3_Missense_Mutation_p.A319T|CTAGE5_ENST00000396158.2_Missense_Mutation_p.A324T|CTAGE5_ENST00000557038.1_Missense_Mutation_p.A239T ACTGATTCATGCTGCTAAGGT 0.333000 11 81 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49670389 49670389 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:49670389C>G ENST00000561648.1 - 4 2727 c.2674G>C c.(2674-2676)Ggg>Cgg p.G892R ZNF423_ENST00000535559.1_Missense_Mutation_p.G775R|ZNF423_ENST00000567169.1_Missense_Mutation_p.G775R|ZNF423_ENST00000262383.2_Missense_Mutation_p.G892R|ZNF423_ENST00000563137.2_Missense_Mutation_p.G832R|ZNF423_ENST00000562520.1_Missense_Mutation_p.G832R|ZNF423_ENST00000562871.1_Missense_Mutation_p.G832R NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 892 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) TAGGCCGCCCCACAGATGTCA 0.617000 13 68 0 0 1 0 0 GYG2 8908 broad.mit.edu 37 X 2779569 2779569 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:2779569C>T ENST00000381163.3 + 9 1219 c.937C>T c.(937-939)Cac>Tac p.H313Y GYG2_ENST00000542787.1_Missense_Mutation_p.H313Y|GYG2_ENST00000338623.5_Missense_Mutation_p.H313Y|GYG2_ENST00000398806.3_Missense_Mutation_p.H282Y|GYG2_ENST00000381161.1_3'UTR NM_001079855.1|NM_001184702.1|NM_003918.2 NP_001073324.1|NP_001171631.1|NP_003909.2 O15488 GLYG2_HUMAN glycogenin 2 313 H -> R (in dbSNP:rs2306735). glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|soluble fraction glycogenin glucosyltransferase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCAGCTTTGCCACAGTGATGT 0.592000 6 13 0 0 1 0 0 WHSC1 7468 broad.mit.edu 37 4 1957770 1957770 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:1957770G>A ENST00000382895.3 + 17 3167 c.2736G>A c.(2734-2736)aaG>aaA p.K912K WHSC1_ENST00000382888.3_Silent_p.K260K|WHSC1_ENST00000382891.5_Silent_p.K912K|WHSC1_ENST00000382892.2_Silent_p.K912K|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000508803.1_Silent_p.K912K NM_133330.2 NP_579877.1 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 912 PWWP 2. 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) AGAAAATGAAGCACGAGATTG 0.453000 T IGH@ MM 48 269 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62069998 62069998 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:62069998G>T ENST00000354587.3 - 7 1179 c.1003C>A c.(1003-1005)Ccg>Acg p.P335T KCNQ2_ENST00000359689.1_Missense_Mutation_p.P335T|KCNQ2_ENST00000370222.3_Missense_Mutation_p.P335T|KCNQ2_ENST00000430658.1_Missense_Mutation_p.P335T|KCNQ2_ENST00000344425.5_Missense_Mutation_p.P335T|KCNQ2_ENST00000360480.3_Missense_Mutation_p.P335T|KCNQ2_ENST00000370224.1_Missense_Mutation_p.P335T|KCNQ2_ENST00000344462.3_Missense_Mutation_p.P335T|KCNQ2_ENST00000357249.2_Missense_Mutation_p.P335T|KCNQ2_ENST00000370221.1_Missense_Mutation_p.P335T|KCNQ2_ENST00000370226.1_Missense_Mutation_p.P335T|KCNQ2_ENST00000359125.2_Missense_Mutation_p.P335T O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 335 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CCTGCTGCCGGGTTCCGCCTC 0.622000 6 66 8.12818e-05 9.91291e-05 1 1 0 DAGLA 747 broad.mit.edu 37 11 61511784 61511784 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:61511784G>T ENST00000257215.5 + 20 3068 c.2952G>T c.(2950-2952)tcG>tcT p.S984S NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 984 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) ACCCCTCCTCGGGCATCTCAC 0.672000 11 61 6.40141e-05 7.91768e-05 1 1 0 XYLT1 64131 broad.mit.edu 37 16 17228483 17228483 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:17228483G>C ENST00000261381.6 - 9 1958 c.1874C>G c.(1873-1875)cCg>cGg p.P625R CTD-2576D5.4_ENST00000567344.1_RNA NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 625 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GCGCAGGCCCGGGGTACCTGC 0.577000 8 119 0 0 1 0 0 SEL1L2 80343 broad.mit.edu 37 20 13867010 13867010 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:13867010G>T ENST00000284951.5 - 9 898 c.824C>A c.(823-825)tCt>tAt p.S275Y SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.S275Y Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 275 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 CTCACTGTTAGAACTCAGATT 0.358000 22 55 8.04996e-18 1.58751e-17 1 1 0 UTRN 7402 broad.mit.edu 37 6 145115049 145115049 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:145115049G>C ENST00000367545.3 + 62 9000 c.9000G>C c.(8998-9000)caG>caC p.Q3000H UTRN_ENST00000367526.4_Missense_Mutation_p.Q555H NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 3000 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) ATGCCATCCAGATCCCCCGGC 0.507000 15 86 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142658450 142658450 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:142658450G>C ENST00000355265.2 - 3 694 c.220C>G c.(220-222)Cct>Gct p.P74A KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 74 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) TGCTTACGAGGGCCACAGTTC 0.607000 4 47 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70805604 70805604 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:70805604C>T ENST00000358731.4 + 17 2948 c.2685C>T c.(2683-2685)acC>acT p.T895T BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 895 9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TTGATGACACCATAGAAATGG 0.408000 6 102 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26736411 26736411 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr22:26736411G>T ENST00000529632.2 + 10 2221 c.2025G>T c.(2023-2025)ctG>ctT p.L675L SEZ6L_ENST00000360929.3_Silent_p.L675L|SEZ6L_ENST00000248933.6_Silent_p.L675L|SEZ6L_ENST00000343706.4_Silent_p.L675L|SEZ6L_ENST00000402979.1_Silent_p.L448L|SEZ6L_ENST00000404234.3_Silent_p.L675L|SEZ6L_ENST00000403121.1_Silent_p.L448L NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 675 CUB 3. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 GCCTGAATCTGAGCAACAGTG 0.473000 27 159 3.57733e-08 5.5033e-08 1 1 0 THNSL1 79896 broad.mit.edu 37 10 25312233 25312233 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:25312233A>T ENST00000524413.1 + 3 428 c.81A>T c.(79-81)aaA>aaT p.K27N THNSL1_ENST00000376356.4_Missense_Mutation_p.K27N Q8IYQ7 THNS1_HUMAN threonine synthase-like 1 (S. cerevisiae) 27 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) AAACGGATAAACATGCACAGC 0.368000 30 85 0 0 1 0 0 GDPGP1 390637 broad.mit.edu 37 15 90785111 90785111 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:90785111A>T ENST00000558017.1 + 4 1391 c.971A>T c.(970-972)gAc>gTc p.D324V GDPGP1_ENST00000329600.6_Missense_Mutation_p.D324V NM_001013657.2 NP_001013679.2 Q6ZNW5 VTC2_HUMAN GDP-D-glucose phosphorylase 1 324 glucose metabolic process cytoplasm GDP-D-glucose phosphorylase activity GGGATAAAGGACGGTGAAGCT 0.597000 22 57 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167716 140167716 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:140167716C>A ENST00000504120.2 + 1 1841 c.1841C>A c.(1840-1842)gCa>gAa p.A614E PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A614E NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCAGCCGGCAGCAGGCGGC 0.677000 14 79 1.3612e-06 1.90261e-06 1 1 0 PTPRD 5789 broad.mit.edu 37 9 8486054 8486054 + Missense_Mutation SNP G G T rs139889630 by1000genomes TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:8486054G>T ENST00000381196.4 - 25 3306 c.2763C>A c.(2761-2763)ttC>ttA p.F921L PTPRD_ENST00000360074.4_Missense_Mutation_p.F908L|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.F921L|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.F899L|PTPRD_ENST00000540109.1_Missense_Mutation_p.F921L NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 921 Fibronectin type-III 7. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GGTTTTGAGGGAATCCAGTTG 0.483000 TSP Lung(15;0.13) 9 73 1.12685e-05 1.46718e-05 1 1 0 PSG11 5680 broad.mit.edu 37 19 43528895 43528895 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:43528895C>T ENST00000401740.1 - 2 481 c.378G>A c.(376-378)aaG>aaA p.K126K PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Silent_p.K126K|PSG11_ENST00000306322.7_Intron Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 126 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) CATCACCTCGCTTTATGATGT 0.498000 32 174 0 0 1 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140783930 140783930 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:140783930A>G ENST00000573521.1 + 1 1411 c.1411A>G c.(1411-1413)Atc>Gtc p.I471V PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTACTTCCATCTTCTCCGT 0.478000 14 64 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114264292 114264292 + Silent SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:114264292T>C ENST00000357077.4 + 34 4295 c.4242T>C c.(4240-4242)ttT>ttC p.F1414F ANK2_ENST00000509550.1_Silent_p.F590F|ANK2_ENST00000264366.6_Silent_p.F1381F|ANK2_ENST00000394537.3_Silent_p.F1414F|ANK2_ENST00000510275.2_Silent_p.F66F|ANK2_ENST00000506722.1_Silent_p.F1405F NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1381 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) TTCCTCTATTTGTCAAGGTAA 0.323000 13 62 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10317597 10317597 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:10317597G>T ENST00000403437.2 - 11 1014 c.920C>A c.(919-921)aCc>aAc p.T307N CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 307 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TGGGTTGGTGGTGATCAGGAG 0.383000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 20 188 1.28384e-07 1.91158e-07 1 1 0 CCDC80 151887 broad.mit.edu 37 3 112357684 112357684 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:112357684G>T ENST00000206423.3 - 2 2022 c.1069C>A c.(1069-1071)Cca>Aca p.P357T CCDC80_ENST00000439685.2_Missense_Mutation_p.P357T NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 357 Thr-rich. breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 GTTGTGGCTGGGGCAGGAGGA 0.632000 4 67 0.00024832 0.000296266 1 1 0 FLG2 388698 broad.mit.edu 37 1 152328134 152328134 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:152328134C>A ENST00000388718.5 - 3 2200 c.2128G>T c.(2128-2130)Ggg>Tgg p.G710W FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 710 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAACTTGACCCATGTTGACCA 0.473000 63 562 7.92265e-33 1.64326e-32 1 1 0 LPPR4 9890 broad.mit.edu 37 1 99764758 99764758 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:99764758T>A ENST00000370185.3 + 4 1203 c.706T>A c.(706-708)Tct>Act p.S236T LPPR4_ENST00000370184.1_Missense_Mutation_p.S78T|LPPR4_ENST00000457765.1_Missense_Mutation_p.S236T NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 236 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) TTGCTCAGGATCTGACCTCAC 0.373000 11 48 0 0 1 0 0 RAD54L2 23132 broad.mit.edu 37 3 51673485 51673485 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:51673485G>T ENST00000409535.1 + 12 2036 c.1911G>T c.(1909-1911)ttG>ttT p.L637F RAD54L2_ENST00000296477.3_Missense_Mutation_p.L331F NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 637 nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) AGGAGAGCTTGGCCAATGAGC 0.527000 7 49 0.00307968 0.00344432 1 1 0 OR52I2 143502 broad.mit.edu 37 11 4608496 4608496 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:4608496C>A ENST00000312614.4 + 1 476 c.454C>A c.(454-456)Cgc>Agc p.R152S NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GGCTTTTGACCGCTATGTAGC 0.488000 9 58 0.000673444 0.000778424 1 1 0 HGF 3082 broad.mit.edu 37 7 81374413 81374413 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:81374413C>A ENST00000222390.5 - 6 875 c.649G>T c.(649-651)Gag>Tag p.E217* HGF_ENST00000444829.2_Nonsense_Mutation_p.E217*|HGF_ENST00000453411.1_Nonsense_Mutation_p.E212*|HGF_ENST00000457544.2_Nonsense_Mutation_p.E212* NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 217 Kringle 2. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 CGATAACTCTCCCCATTGCAG 0.403000 44 44 3.39706e-21 6.84488e-21 1 1 0 PTCHD2 57540 broad.mit.edu 37 1 11579501 11579501 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:11579501A>T ENST00000294484.6 + 8 2117 c.1979A>T c.(1978-1980)cAg>cTg p.Q660L PTCHD2_ENST00000389575.3_Missense_Mutation_p.Q660L NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 660 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) AGCCCTGCCCAGGGCCCCATA 0.632000 30 159 0 0 1 0 0 RAMP3 10268 broad.mit.edu 37 7 45216964 45216964 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:45216964C>A ENST00000242249.4 + 2 153 c.115C>A c.(115-117)Ctg>Atg p.L39M RAMP3_ENST00000481345.1_Missense_Mutation_p.L39M|RAMP3_ENST00000496212.1_Missense_Mutation_p.L39M NM_005856.2 NP_005847.1 O60896 RAMP3_HUMAN receptor (G protein-coupled) activity modifying protein 3 39 intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane|lysosome protein transporter activity breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1) 11 Pramlintide(DB01278) GAGGCTGCCCCTGTGTGGGAA 0.592000 5 55 0.0215528 0.0228632 1 1 0 COL4A5 1287 broad.mit.edu 37 X 107865950 107865950 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:107865950G>T ENST00000328300.6 + 33 3056 c.2812G>T c.(2812-2814)Gga>Tga p.G938* COL4A5_ENST00000361603.2_Nonsense_Mutation_p.G938* NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 938 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TGGCCCTACAGGAGAAAAAGG 0.463000 Alport syndrome with Diffuse Leiomyomatosis 23 58 2.98393e-07 4.35548e-07 1 1 0 DPRX 503834 broad.mit.edu 37 19 54139926 54139926 + Missense_Mutation SNP A A C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:54139926A>C ENST00000376650.1 + 3 311 c.260A>C c.(259-261)cAa>cCa p.Q87P NM_001012728.1 NP_001012746.1 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 87 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|large_intestine(1)|lung(7) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) GAAACTCCACAACCGCCAATA 0.502000 14 72 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33581437 33581437 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:33581437C>T ENST00000321505.4 + 6 3287 c.3107C>T c.(3106-3108)cCg>cTg p.P1036L KIAA1549L_ENST00000265654.5_Missense_Mutation_p.P1042L|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P1042L KIAA1549-like p.P1042L(1) CTCACCTATCCGCCGCTAACC 0.562000 25 137 0 0 1 0 0 UPRT 139596 broad.mit.edu 37 X 74519687 74519687 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:74519687C>T ENST00000373379.1 + 5 845 c.680C>T c.(679-681)cCa>cTa p.P227L UPRT_ENST00000373383.4_Missense_Mutation_p.P227L|UPRT_ENST00000530743.1_Missense_Mutation_p.P91L Q96BW1 UPP_HUMAN uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) 227 nucleoside metabolic process cytoplasm|nucleus breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4) 18 AAATTCCCCCCAGACATTTAC 0.413000 32 181 0 0 1 0 0 MMS22L 253714 broad.mit.edu 37 6 97677144 97677144 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:97677144C>T ENST00000275053.4 - 14 1930 c.1665G>A c.(1663-1665)ctG>ctA p.L555L MMS22L_ENST00000369251.2_Silent_p.L515L NM_198468.2 NP_940870.2 Q6ZRQ5 MMS22_HUMAN MMS22-like, DNA repair protein 555 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 50 TGAGGAAATTCAGGAGGTCTA 0.428000 10 54 0 0 1 0 0 AEBP1 165 broad.mit.edu 37 7 44152230 44152230 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:44152230G>C ENST00000223357.3 + 18 2596 c.2291G>C c.(2290-2292)gGc>gCc p.G764A AEBP1_ENST00000450684.2_Missense_Mutation_p.G339A NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 764 Interaction with PTEN (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 AATCTGAACGGCGGCGAGCGG 0.647000 9 45 0 0 1 0 0 GSX2 170825 broad.mit.edu 37 4 54967967 54967967 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:54967967C>A ENST00000326902.2 + 2 1107 c.793C>A c.(793-795)Cag>Aag p.Q265K FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_3'UTR NM_133267.2 NP_573574.1 Q9BZM3 GSX2_HUMAN GS homeobox 2 265 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(2)|lung(2) 6 all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147) LUSC - Lung squamous cell carcinoma(32;0.00216) GAAGGGCACGCAGAGGAACAG 0.597000 15 63 1.15088e-07 1.71878e-07 1 1 0 SV2C 22987 broad.mit.edu 37 5 75428131 75428131 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:75428131C>G ENST00000502798.2 + 2 998 c.556C>G c.(556-558)Cca>Gca p.P186A SV2C_ENST00000322285.7_Missense_Mutation_p.P186A NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 186 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) CCTCTGCATCCCAAATTCAGG 0.488000 10 92 0 0 1 0 0 SEPT9 10801 broad.mit.edu 37 17 75398444 75398444 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:75398444C>T ENST00000329047.8 + 2 1138 c.326C>T c.(325-327)cCg>cTg p.P109L SEPT9_ENST00000590294.1_Missense_Mutation_p.P109L|SEPT9_ENST00000591198.1_Missense_Mutation_p.P108L|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000423034.2_Missense_Mutation_p.P120L|SEPT9_ENST00000427177.1_Missense_Mutation_p.P127L NM_006640.4 NP_006631.2 Q9UHD8 SEPT9_HUMAN septin 9 127 cell cycle|cell division|protein heterooligomerization microtubule|perinuclear region of cytoplasm|stress fiber GTP binding|GTPase activity|protein binding autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2) 16 BRCA - Breast invasive adenocarcinoma(99;0.153) GCCATCGGCCCGTCCCGGTTC 0.677000 7 21 0 0 1 0 0 PAX8 7849 broad.mit.edu 37 2 114002147 114002147 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:114002147C>A ENST00000429538.3 - 4 440 c.246G>T c.(244-246)aaG>aaT p.K82N AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.K82N|PAX8_ENST00000348715.5_Missense_Mutation_p.K82N|AC016683.6_ENST00000436293.2_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.K82N|PAX8_ENST00000263335.7_Missense_Mutation_p.K82N NM_003466.3 NP_003457.1 Q06710 PAX8_HUMAN paired box 8 82 Paired. branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity PAX8/PPARG(117) breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1) 20 GGGTGGCCACCTTGGGCTTGG 0.577000 T PPARG follicular thyroid Thyroid dysgenesis 29 245 1.13719e-10 1.95191e-10 1 1 0 TECPR2 9895 broad.mit.edu 37 14 102910132 102910132 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:102910132G>T ENST00000359520.7 + 12 3127 c.2901G>T c.(2899-2901)ccG>ccT p.P967P TECPR2_ENST00000558678.1_Silent_p.P967P NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 967 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 GCTTCTGTCCGGAAGGCGAGC 0.597000 3 33 0.00024832 0.000296266 1 1 0 SLC22A10 387775 broad.mit.edu 37 11 63059081 63059081 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:63059081G>C ENST00000544661.1 + 3 435 c.7G>C c.(7-9)Gtg>Ctg p.V3L SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_Missense_Mutation_p.V106L|SLC22A10_ENST00000332793.6_Missense_Mutation_p.V158L|SLC22A10_ENST00000535888.1_Intron Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 158 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TGGAATGCTGGTGGGAGGCAT 0.438000 14 97 0 0 1 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149216290 149216290 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:149216290C>A ENST00000309241.5 + 8 2304 c.2272C>A c.(2272-2274)Cat>Aat p.H758N PPARGC1B_ENST00000403750.1_Missense_Mutation_p.H694N|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.H719N|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.H758N NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 758 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GCTGAGAGACCATGAGATCCG 0.632000 16 114 6.72482e-11 1.15829e-10 1 1 0 BAHCC1 57597 broad.mit.edu 37 17 79427988 79427988 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:79427988C>T ENST00000307745.7 + 30 6299 c.6299C>T c.(6298-6300)gCg>gTg p.A2100V AGCTGGTCCGCGGTGGCGCAG 0.677000 6 30 0 0 1 0 0 GABRG2 2566 broad.mit.edu 37 5 161520890 161520890 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:161520890G>C ENST00000356592.3 + 2 624 c.164G>C c.(163-165)tGg>tCg p.W55S GABRG2_ENST00000361925.4_Missense_Mutation_p.W55S|GABRG2_ENST00000393933.4_5'UTR|GABRG2_ENST00000414552.2_Missense_Mutation_p.W55S NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 55 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) AACAAAACATGGGTCTTGACT 0.378000 22 105 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142625849 142625849 + Missense_Mutation SNP G G T rs111950088 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:142625849G>T ENST00000265310.1 - 6 1047 c.699C>A c.(697-699)gaC>gaA p.D233E TRPV5_ENST00000442623.1_Missense_Mutation_p.D233E NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 233 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) TGGGCACAAGGTCCAGGGGCT 0.562000 5 45 0.000602214 0.000697722 1 1 0 CD200R1 131450 broad.mit.edu 37 3 112647835 112647835 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:112647835C>A ENST00000471858.1 - 4 760 c.528G>T c.(526-528)gcG>gcT p.A176A CD200R1_ENST00000295863.4_Silent_p.A154A|CD200R1_ENST00000440122.2_3'UTR|CD200R1_ENST00000490004.1_3'UTR|CD200R1_ENST00000308611.3_Silent_p.A199A NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 176 Ig-like C2-type. interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity p.A199A(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 AGGAGATATGCGCAGCTGGCT 0.498000 6 44 3.59834e-05 4.51849e-05 1 1 0 PCDHA10 56139 broad.mit.edu 37 5 140237825 140237825 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:140237825G>T ENST00000307360.5 + 1 2192 c.2192G>T c.(2191-2193)gGg>gTg p.G731V PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGCATGTGGGCCGGTGAAG 0.672000 6 42 0.217242 0.220363 1 1 0 SLC14A2 8170 broad.mit.edu 37 18 43247047 43247047 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:43247047G>T ENST00000255226.6 + 13 2521 c.1705G>T c.(1705-1707)Gag>Tag p.E569* SLC14A2_ENST00000586448.1_Nonsense_Mutation_p.E569*|SLC14A2_ENST00000589658.1_Nonsense_Mutation_p.E46* NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 569 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GGAGTGTGGAGAGGGACTTAA 0.507000 5 27 0.000602214 0.000697722 1 1 0 PDZD2 23037 broad.mit.edu 37 5 32098644 32098644 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:32098644A>T ENST00000438447.1 + 23 8510 c.8122A>T c.(8122-8124)Atg>Ttg p.M2708L PDZD2_ENST00000282493.3_Missense_Mutation_p.M2708L O15018 PDZD2_HUMAN PDZ domain containing 2 2708 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CAAGAAAGGGATGGATCAGCC 0.602000 8 22 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42005001 42005001 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:42005001C>A ENST00000395925.3 - 15 3754 c.3670G>T c.(3670-3672)Ggt>Tgt p.G1224C GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 1224 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 TCTGGGCCACCGTAGGGGTTG 0.622000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 9 70 2.17888e-05 2.77601e-05 1 1 0 SIGLEC15 284266 broad.mit.edu 37 18 43417013 43417013 + Silent SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:43417013A>G ENST00000389474.3 + 2 289 c.72A>G c.(70-72)aaA>aaG p.K24K SIGLEC15_ENST00000602118.2_3'UTR|SIGLEC15_ENST00000546268.1_5'UTR NM_213602.2 NP_998767.1 Q6ZMC9 SIG15_HUMAN sialic acid binding Ig-like lectin 15 24 integral to membrane endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 4 tgagaactaaaatagatacta 0.428000 9 57 0 0 1 0 0 WNT9A 7483 broad.mit.edu 37 1 228109491 228109491 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:228109491C>G ENST00000272164.5 - 4 836 c.826G>C c.(826-828)Ggg>Cgg p.G276R WNT9A_ENST00000497852.1_Intron NM_003395.2 NP_003386.1 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, member 9A 276 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Prostate(94;0.0405) CCACCTGCCCCCGAGGCACGG 0.682000 7 69 0 0 1 0 0 TDP1 55775 broad.mit.edu 37 14 90509430 90509430 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:90509430G>C ENST00000335725.4 + 17 2020 c.1770G>C c.(1768-1770)tgG>tgC p.W590C TDP1_ENST00000393454.2_Missense_Mutation_p.W590C|TDP1_ENST00000555880.1_Missense_Mutation_p.G554A|TDP1_ENST00000357382.3_Missense_Mutation_p.W351C|TDP1_ENST00000393452.3_3'UTR NM_018319.3 NP_060789.2 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 590 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1) 25 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) CATGGATATGGAACATTCCTT 0.418000 Repair of DNA-protein crosslinks 6 72 0 0 1 0 0 TRIM24 8805 broad.mit.edu 37 7 138264108 138264108 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:138264108G>T ENST00000343526.4 + 15 2631 c.2416G>T c.(2416-2418)Gat>Tat p.D806Y TRIM24_ENST00000415680.2_Missense_Mutation_p.D772Y O15164 TIF1A_HUMAN tripartite motif containing 24 806 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 TGAATGGTTGGATCCTTCCCA 0.483000 14 91 6.72482e-11 1.15829e-10 1 1 0 CD1B 910 broad.mit.edu 37 1 158299678 158299678 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:158299678C>A ENST00000368168.3 - 3 678 c.571G>T c.(571-573)Gtc>Ttc p.V191F NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 191 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) GCATTGAGGACGCCCAAGAGA 0.438000 28 182 2.79863e-10 4.7217e-10 1 1 0 MYH6 4624 broad.mit.edu 37 14 23872002 23872002 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:23872002C>T ENST00000405093.3 - 11 976 c.906G>A c.(904-906)ctG>ctA p.L302L MYH6_ENST00000356287.3_Silent_p.L302L NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 302 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TGGTGACCAGCAGCATGTCTG 0.632000 4 28 0 0 1 0 0 HACE1 57531 broad.mit.edu 37 6 105231977 105231977 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:105231977T>A ENST00000262903.4 - 14 1826 c.1550A>T c.(1549-1551)cAt>cTt p.H517L HACE1_ENST00000369125.2_Missense_Mutation_p.H517L NM_020771.3 NP_065822.2 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 517 protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 44 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) TTTTATGATATGCATGAATCT 0.254000 14 89 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821304 5821304 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:5821304A>G ENST00000381095.3 - 5 2042 c.1415T>C c.(1414-1416)tTc>tCc p.F472S NLGN4X_ENST00000381092.1_Missense_Mutation_p.F472S|NLGN4X_ENST00000381093.2_Missense_Mutation_p.F492S|NLGN4X_ENST00000538097.1_Missense_Mutation_p.F472S|NLGN4X_ENST00000275857.6_Missense_Mutation_p.F472S NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 472 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 GTGATGATAGAAGGCATAGAA 0.617000 16 53 0 0 1 0 0 UBXN2A 165324 broad.mit.edu 37 2 24207567 24207567 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:24207567A>T ENST00000309033.4 + 6 694 c.450A>T c.(448-450)aaA>aaT p.K150N UBXN2A_ENST00000535786.1_Intron|UBXN2A_ENST00000404924.1_Missense_Mutation_p.K150N|UBXN2A_ENST00000446425.2_3'UTR NM_181713.3 NP_859064.2 P68543 UBX2A_HUMAN UBX domain protein 2A 150 endometrium(1)|large_intestine(3)|liver(1)|lung(6) 11 TTGTTTCTAAAGCAAAGAATA 0.294000 9 47 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28273019 28273019 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:28273019C>A ENST00000354638.3 - 4 668 c.513G>T c.(511-513)ctG>ctT p.L171L OCA2_ENST00000353809.5_Silent_p.L171L|OCA2_ENST00000382996.2_Silent_p.L171L NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 171 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) CCGCCTACCTCAGCTTGGAAA 0.612000 Oculocutaneous Albinism 4 50 0.184627 0.187793 1 1 0 CRISPLD1 83690 broad.mit.edu 37 8 75927084 75927084 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:75927084C>A ENST00000262207.4 + 6 1132 c.664C>A c.(664-666)Cgg>Agg p.R222R CRISPLD1_ENST00000523524.1_Silent_p.R34R|CRISPLD1_ENST00000517786.1_Silent_p.R36R NM_031461.5 NP_113649.1 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain containing 1 222 extracellular region p.R222W(2) biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) CAAACATGGGCGGCCCTGTTC 0.423000 3 30 0.00024832 0.000296266 1 1 0 SORCS1 114815 broad.mit.edu 37 10 108923747 108923747 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:108923747A>T ENST00000263054.6 - 1 545 c.538T>A c.(538-540)Tgg>Agg p.W180R SORCS1_ENST00000344440.6_Missense_Mutation_p.W180R NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 180 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TGGCCAGACCAGTGGACCATG 0.562000 7 34 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128319902 128319902 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:128319902T>A ENST00000368227.3 - 17 3044 c.2678A>T c.(2677-2679)aAg>aTg p.K893M PTPRK_ENST00000532331.1_Missense_Mutation_p.K897M|PTPRK_ENST00000368226.4_Missense_Mutation_p.K881M|PTPRK_ENST00000368213.5_Missense_Mutation_p.K881M|PTPRK_ENST00000368207.3_Missense_Mutation_p.K907M|PTPRK_ENST00000368210.3_Missense_Mutation_p.K893M|PTPRK_ENST00000368215.3_Missense_Mutation_p.K880M Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 880 Tyrosine-protein phosphatase 1. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) GTCTGATGTCTTCATGAGATT 0.428000 16 88 0 0 1 0 0 CPA3 1359 broad.mit.edu 37 3 148597628 148597628 + Missense_Mutation SNP C C A rs149879184 byFrequency TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:148597628C>A ENST00000296046.3 + 6 580 c.528C>A c.(526-528)caC>caA p.H176Q RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 176 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) GTGGCATTCACGCACGAGAAT 0.408000 14 115 4.3838e-07 6.31796e-07 1 1 0 ALKBH8 91801 broad.mit.edu 37 11 107427549 107427549 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:107427549C>A ENST00000428149.2 - 3 461 c.310G>T c.(310-312)Gaa>Taa p.E104* ALKBH8_ENST00000417449.2_Nonsense_Mutation_p.E107*|ALKBH8_ENST00000429370.1_Nonsense_Mutation_p.E104*|ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000389568.3_Nonsense_Mutation_p.E104* NM_138775.2 NP_620130.2 Q96BT7 ALKB8_HUMAN alkB, alkylation repair homolog 8 (E. coli) 104 RRM. response to DNA damage stimulus cytosol|nucleus metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity p.E104*(2) breast(2)|large_intestine(2)|lung(5) 9 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518) TCCACTACTTCTTTTCCATTG 0.353000 8 75 3.09899e-07 4.50568e-07 1 1 0 CNTNAP2 26047 broad.mit.edu 37 7 147869345 147869345 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:147869345G>A ENST00000361727.3 + 18 3301 c.2785G>A c.(2785-2787)Ggc>Agc p.G929S CNTNAP2_ENST00000538075.1_5'UTR NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 929 Laminin G-like 3. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TGGTGCTGGGGGCCAGCAGGG 0.512000 HNSCC(39;0.1) 7 61 0 0 1 0 0 HLA-DQB1 3119 broad.mit.edu 37 6 32629851 32629851 + Missense_Mutation SNP C C A rs9273961 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:32629851C>A ENST00000399084.1 - 4 732 c.554G>T c.(553-555)tGg>tTg p.W185L HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.W185L|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.W185L|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.W185L|HLA-DQB1_ENST00000399082.3_Missense_Mutation_p.W95L P01920 DQB1_HUMAN major histocompatibility complex, class II, DQ beta 1 185 Beta-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity breast(1)|large_intestine(1)|lung(1)|pancreas(1) 4 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTGGAAAGTCCAGTCACCATT 0.562000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 16 38 3.41278e-10 5.73177e-10 1 1 0 NCOR1P1 149934 broad.mit.edu 37 20 26094525 26094525 + RNA SNP T T C rs62211580 by1000genomes TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:26094525T>C ENST00000478176.1 - 0 139 NR_003678.1 p.H33R(1) CTGCTGGTGGTGGGTGCTGGG 0.393000 5 24 0 0 1 0 0 LOC81691 81691 broad.mit.edu 37 16 20838468 20838468 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:20838468G>C ENST00000261377.6 + 9 1119 c.910G>C c.(910-912)Gat>Cat p.D304H ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.D304H|AC004381.6_ENST00000348433.6_Missense_Mutation_p.D304H NM_001199053.1|NM_030941.2 NP_001185982.1|NP_112203.2 GCTTCCTCCTGATGCTGTGTT 0.413000 22 167 0 0 1 0 0 ACSL4 2182 broad.mit.edu 37 X 108924287 108924287 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:108924287C>A ENST00000340800.2 - 7 1222 c.718G>T c.(718-720)Gaa>Taa p.E240* ACSL4_ENST00000469796.2_Nonsense_Mutation_p.E240*|ACSL4_ENST00000348502.6_Nonsense_Mutation_p.E199* NM_022977.2 NP_075266.1 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 240 fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2) 22 Icosapent(DB00159)|Troglitazone(DB00197) TCAAATCCTTCAGGGTACTCT 0.338000 13 84 3.27435e-08 5.04244e-08 1 1 0 MORC1 27136 broad.mit.edu 37 3 108723663 108723663 + Splice_Site SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:108723663C>T ENST00000232603.5 - 20 2168 c.e20+1 MORC1_ENST00000483760.1_Splice_Site NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 CCTTTTCCCACCTGGGCATTC 0.343000 41 278 0 0 1 0 0 MICAL1 64780 broad.mit.edu 37 6 109767479 109767479 + Missense_Mutation SNP T T G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:109767479T>G ENST00000368952.4 - 19 2788 c.2498A>C c.(2497-2499)cAg>cCg p.Q833P MICAL1_ENST00000358807.3_Missense_Mutation_p.Q814P|MICAL1_ENST00000358577.3_Missense_Mutation_p.Q728P Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 814 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) GGACAACCGCTGGCGCTCCGG 0.697000 10 82 0 0 1 0 0 TEX35 84066 broad.mit.edu 37 1 178490398 178490398 + Splice_Site SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:178490398G>T ENST00000319416.2 + 8 697 c.586_splice c.e8+1 p.R195_splice TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000258298.2_Splice_Site_p.R119_splice|TEX35_ENST00000367643.3_Splice_Site_p.R195_splice|TEX35_ENST00000367641.3_3'UTR|TEX35_ENST00000367639.1_Splice_Site_p.R203_splice NM_032126.4 NP_115502.2 testis expressed 35 ACTACAATCGGGGTAGGTAGA 0.498000 20 163 7.45023e-12 1.3232e-11 1 1 0 WBP11P1 441818 broad.mit.edu 37 18 30092551 30092551 + RNA SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:30092551G>T ENST00000567636.1 + 0 926 NR_003558.1 TCATGATGATGATGTTTTTAG 0.483000 5 87 0.014758 0.0158251 1 1 0 RP11-451O13.1 0 broad.mit.edu 37 1 157895812 157895812 + RNA SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:157895812G>A ENST00000452528.1 + 0 49 AGCGCAGTGAGGTGGTGGCAC 0.572000 4 20 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168103654 168103654 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:168103654C>A ENST00000409195.1 + 9 5841 c.5752C>A c.(5752-5754)Ctc>Atc p.L1918I XIRP2_ENST00000409273.1_Missense_Mutation_p.L1696I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L1918I|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1743 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAAGGAGCTTCTCAAAGATGA 0.353000 9 58 0.00448238 0.00498677 1 1 0 TMEM132E 124842 broad.mit.edu 37 17 32964202 32964202 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:32964202C>A ENST00000321639.5 + 10 2234 c.1906C>A c.(1906-1908)Cta>Ata p.L636I NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 636 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) CCAGGAAGCCCTACTGAGCCT 0.592000 9 75 2.17888e-05 2.77601e-05 1 1 0 OR4Q3 441669 broad.mit.edu 37 14 20215915 20215915 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:20215915C>G ENST00000331723.1 + 1 329 c.329C>G c.(328-330)gCc>gGc p.A110G NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTTCTAGGAGCCAGTGAGATG 0.488000 11 85 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100608750 100608750 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:100608750C>T ENST00000319509.7 + 7 2129 c.2129C>T c.(2128-2130)cCc>cTc p.P710L RP11-395B7.2_ENST00000420080.1_RNA mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 CGCGCCGCTCCCACGGGCTAT 0.607000 13 63 0 0 1 0 0 CDH24 64403 broad.mit.edu 37 14 23524511 23524511 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:23524511C>A ENST00000397359.3 - 3 512 c.253G>T c.(253-255)Ggg>Tgg p.G85W CDH24_ENST00000487137.2_Missense_Mutation_p.G85W|CDH24_ENST00000267383.5_Missense_Mutation_p.G85W|CDH24_ENST00000554034.1_Missense_Mutation_p.G85W NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 85 Cadherin 1. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) GCCCCCTCCCCGGTCAACAGG 0.562000 OREG0022594 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 37 1.12685e-05 1.46718e-05 1 1 0 EPHX4 253152 broad.mit.edu 37 1 92528642 92528642 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:92528642C>A ENST00000370383.4 + 7 986 c.888C>A c.(886-888)acC>acA p.T296T NM_173567.4 NP_775838.3 Q8IUS5 EPHX4_HUMAN epoxide hydrolase 4 296 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(3)|lung(8) 12 ACATGGTGACCACTCCAACAC 0.403000 21 116 6.21321e-17 1.21399e-16 1 1 0 HYDIN 54768 broad.mit.edu 37 16 70917956 70917956 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:70917956G>T ENST00000393567.2 - 59 9996 c.9846C>A c.(9844-9846)gtC>gtA p.V3282V NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3282 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CAACGTTGATGACCTGCTGTC 0.592000 4 23 0.00909568 0.00987474 1 1 0 DMD 1756 broad.mit.edu 37 X 31986606 31986606 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:31986606C>A ENST00000357033.4 - 45 6670 c.6464G>T c.(6463-6465)cGg>cTg p.R2155L DMD_ENST00000343523.2_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.R2151L|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378707.3_5'UTR NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2155 R -> W (in dbSNP:rs1800273). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AACAGTTTGCCGCTGCCCAAT 0.403000 10 54 1.58986e-06 2.19736e-06 1 1 0 ABCC10 89845 broad.mit.edu 37 6 43417225 43417225 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:43417225C>T ENST00000244533.3 + 19 4544 c.4185C>T c.(4183-4185)acC>acT p.T1395T ABCC10_ENST00000372530.4_Silent_p.T1423T NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 1423 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TCCAGCAGACCATCTGCAAAC 0.517000 4 47 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:102304772T>C ENST00000561463.1 + 0 12818 CACAGCGGCGTGACGAGACTC 0.587000 3 22 0 0 1 0 0 THOC2 57187 broad.mit.edu 37 X 122760479 122760479 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:122760479C>A ENST00000245838.8 - 24 2823 c.2792G>T c.(2791-2793)tGt>tTt p.C931F THOC2_ENST00000491737.1_Missense_Mutation_p.C816F|THOC2_ENST00000355725.4_Missense_Mutation_p.C931F NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 931 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 AAGGGCAGTACAGCGCTCCTT 0.363000 15 54 6.72482e-11 1.15829e-10 1 1 0 TRPC4 7223 broad.mit.edu 37 13 38237681 38237681 + Silent SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr13:38237681T>C ENST00000379705.3 - 6 2417 c.1560A>G c.(1558-1560)ctA>ctG p.L520L TRPC4_ENST00000355779.2_Silent_p.L520L|TRPC4_ENST00000379681.3_Silent_p.L520L|TRPC4_ENST00000358477.2_Silent_p.L520L|TRPC4_ENST00000447043.1_Silent_p.L520L|TRPC4_ENST00000379679.1_Silent_p.L347L|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000338947.5_Silent_p.L347L|TRPC4_ENST00000379673.2_Silent_p.L520L Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 520 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) AGTATATGAATAGAAACTTCA 0.398000 25 75 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70970394 70970394 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:70970394C>A ENST00000357250.6 - 20 1573 c.1415G>T c.(1414-1416)gGc>gTc p.G472V COL9A1_ENST00000370499.4_Missense_Mutation_p.G229V|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.G229V NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 472 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 GCCGGTGATGCCTCGCAAACC 0.348000 7 39 0.0581538 0.0609054 1 1 0 ARMC5 79798 broad.mit.edu 37 16 31471244 31471244 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:31471244C>T ENST00000457010.2 + 1 1100 c.399C>T c.(397-399)ctC>ctT p.L133L ARMC5_ENST00000563544.1_Silent_p.L133L|ARMC5_ENST00000408912.3_Silent_p.L228L|ARMC5_ENST00000268314.4_Silent_p.L133L|ARMC5_ENST00000538189.1_Silent_p.L165L NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 133 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 ACTTGGCGCTCAGCATCCTAG 0.677000 11 64 0 0 1 0 0 OR3A4P 390756 broad.mit.edu 37 17 3213553 3213553 + RNA SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:3213553C>T ENST00000573491.1 - 0 359 OR3A4P_ENST00000323164.4_RNA CTGCTTCTGCCACCACCGGCC 0.502000 3 27 0 0 1 0 0 AKR1B15 441282 broad.mit.edu 37 7 134260639 134260639 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:134260639G>A ENST00000457545.2 + 8 963 c.703G>A c.(703-705)Gtt>Att p.V235I AKR1B15_ENST00000423958.1_Missense_Mutation_p.V207I NM_001080538.2 NP_001074007.2 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 235 oxidoreductase activity p.V253I(1)|p.V207I(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1) 18 GGGCATCACCGTTACGGCCTA 0.488000 5 63 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238275606 238275606 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:238275606G>T ENST00000295550.4 - 11 5676 c.5224C>A c.(5224-5226)Cgg>Agg p.R1742R COL6A3_ENST00000347401.3_Silent_p.R1541R|COL6A3_ENST00000346358.4_Silent_p.R1542R|COL6A3_ENST00000472056.1_Silent_p.R1135R|COL6A3_ENST00000353578.4_Silent_p.R1536R|COL6A3_ENST00000409809.1_Silent_p.R1536R NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1742 Nonhelical region.|VWFA 9. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TGAGGGACCCGCTGGTCCAGG 0.592000 8 49 5.4927e-09 8.74e-09 1 1 0 CLDN16 10686 broad.mit.edu 37 3 190120225 190120225 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:190120225C>G ENST00000264734.2 + 2 672 c.424C>G c.(424-426)Ccc>Gcc p.P142A CLDN16_ENST00000468220.1_3'UTR|CLDN16_ENST00000456423.1_Intron NM_006580.3 NP_006571.1 Q9Y5I7 CLD16_HUMAN claudin 16 142 calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1) 19 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) TGCGGAGCATCCCTGTACGTA 0.473000 18 79 0 0 1 0 0 IGHV4-61 28391 broad.mit.edu 37 14 107095181 107095181 + RNA SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:107095181G>C ENST00000390630.2 - 0 399 CAGCTTCAGGGAGAACTGGTT 0.542000 16 112 0 0 1 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356415 37356415 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:37356415C>A ENST00000217420.1 + 2 974 c.711C>A c.(709-711)ccC>ccA p.P237P NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 237 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CGGGGCTGCCCGTGTCGCAGA 0.582000 8 38 9.70103e-10 1.60744e-09 1 1 0 GP5 2814 broad.mit.edu 37 3 194118785 194118785 + Missense_Mutation SNP A A C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:194118785A>C ENST00000401815.1 - 1 298 c.227T>G c.(226-228)cTg>cGg p.L76R GP5_ENST00000323007.3_Missense_Mutation_p.L76R P40197 GPV_HUMAN glycoprotein V (platelet) 76 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) GAGGCGCTGCAGGACGGTCAT 0.612000 5 79 0 0 1 0 0 PLAC8 51316 broad.mit.edu 37 4 84015830 84015830 + Splice_Site SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:84015830C>A ENST00000311507.4 - 4 523 c.e4+1 PLAC8_ENST00000515389.1_Splice_Site|PLAC8_ENST00000509973.1_Splice_Site|PLAC8_ENST00000505406.1_Splice_Site|PLAC8_ENST00000426923.2_3'UTR|PLAC8_ENST00000411416.2_Splice_Site NM_016619.2 NP_057703.1 Q9NZF1 PLAC8_HUMAN placenta-specific 8 large_intestine(2)|lung(3)|ovary(1) 6 Hepatocellular(203;0.114) CATTGACTCACCATCAGTTTT 0.358000 8 60 0.000274275 0.00032488 1 1 0 IKZF1 10320 broad.mit.edu 37 7 50467635 50467635 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:50467635C>G ENST00000331340.3 + 8 1025 c.870C>G c.(868-870)gaC>gaG p.D290E IKZF1_ENST00000346667.4_Missense_Mutation_p.D60E|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000439701.1_Missense_Mutation_p.D248E|IKZF1_ENST00000359197.5_Missense_Mutation_p.D248E|IKZF1_ENST00000343574.5_Missense_Mutation_p.D203E|IKZF1_ENST00000438033.1_Missense_Mutation_p.D203E|IKZF1_ENST00000349824.4_Missense_Mutation_p.D147E|IKZF1_ENST00000357364.4_Missense_Mutation_p.D203E NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 290 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(28) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GCCTGTCCGACACGCCCTACG 0.597000 """D,T""" BCL6 """ALL, DLBCL""" 3 17 0 0 1 0 0 BIN2 51411 broad.mit.edu 37 12 51717814 51717814 + Nonsense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:51717814G>A ENST00000267012.4 - 1 134 c.73C>T c.(73-75)Cag>Tag p.Q25* BIN2_ENST00000604560.1_Nonsense_Mutation_p.Q25*|BIN2_ENST00000452142.2_Nonsense_Mutation_p.Q25*|BIN2_ENST00000603260.1_5'UTR|BIN2_ENST00000544402.1_Intron NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 25 cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 ACCTTCTCCTGGGCCCTGCTA 0.731000 11 34 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811302 5811302 + Silent SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:5811302T>A ENST00000381095.3 - 6 2634 c.2007A>T c.(2005-2007)cgA>cgT p.R669R NLGN4X_ENST00000381092.1_Silent_p.R669R|NLGN4X_ENST00000381093.2_Silent_p.R689R|NLGN4X_ENST00000538097.1_Silent_p.R669R|NLGN4X_ENST00000275857.6_Silent_p.R669R NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 669 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 TGGAATAATCTCGTTTGGTTT 0.498000 25 136 0 0 1 0 0 NOL4 8715 broad.mit.edu 37 18 31599554 31599554 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:31599554C>T ENST00000261592.5 - 6 1081 c.784G>A c.(784-786)Gca>Aca p.A262T NOL4_ENST00000535384.1_5'UTR|NOL4_ENST00000535475.1_Missense_Mutation_p.A107T|NOL4_ENST00000589544.1_Missense_Mutation_p.A262T|NOL4_ENST00000269185.4_Missense_Mutation_p.A148T|NOL4_ENST00000538587.1_Missense_Mutation_p.A188T NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 262 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 AAGCTCTCTGCAGCAGAATCA 0.403000 16 64 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104375662 104375662 + Missense_Mutation SNP G G T rs144712629 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:104375662G>T ENST00000361820.3 - 6 3362 c.2762C>A c.(2761-2763)aCg>aAg p.T921K GRIN3A_ENST00000479772.1_5'UTR NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 921 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CCATACCTCCGTGACAGCAAA 0.433000 5 44 0.0215528 0.0228632 1 1 0 TNR 7143 broad.mit.edu 37 1 175365882 175365882 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:175365882C>A ENST00000367674.1 - 5 1746 c.1038G>T c.(1036-1038)tgG>tgT p.W346C TNR_ENST00000263525.2_Missense_Mutation_p.W346C NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 346 Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TCGGCCCGTCCCATTCCAGCT 0.607000 21 179 1.9806e-07 2.94017e-07 1 1 0 CARD10 29775 broad.mit.edu 37 22 37902246 37902246 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr22:37902246G>A ENST00000403299.1 - 8 1552 c.1336C>T c.(1336-1338)Ctg>Ttg p.L446L CARD10_ENST00000406271.3_Silent_p.L160L|CARD10_ENST00000251973.5_Silent_p.L446L Q9BWT7 CAR10_HUMAN caspase recruitment domain family, member 10 446 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) ACCTCCAGCAGAGCCTTGGTG 0.662000 8 15 0 0 1 0 0 OR2W5 441932 broad.mit.edu 37 1 247654715 247654715 + RNA SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:247654715G>T ENST00000522351.1 + 0 346 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CACCTACCACGGCTGTGTGGC 0.562000 6 96 0.00116845 0.00133498 1 1 0 EDIL3 10085 broad.mit.edu 37 5 83356239 83356239 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:83356239G>T ENST00000296591.5 - 9 1435 c.1017C>A c.(1015-1017)agC>agA p.S339R EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Missense_Mutation_p.S329R NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 339 F5/8 type C 2. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) TTCTGAAGATGCTGGAGGCAG 0.468000 6 53 3.59834e-05 4.51849e-05 1 1 0 CCNT2 905 broad.mit.edu 37 2 135705409 135705409 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:135705409A>G ENST00000264157.5 + 7 673 c.643A>G c.(643-645)Act>Gct p.T215A CCNT2_ENST00000295238.6_Missense_Mutation_p.T215A|CCNT2_ENST00000537343.1_Missense_Mutation_p.T40A NM_001241.3|NM_058241.2 NP_001232.1|NP_490595.1 O60583 CCNT2_HUMAN cyclin T2 215 cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein kinase binding endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.107) CCCTGTATCAACTGATGGAAA 0.363000 11 85 0 0 1 0 0 OR2T33 391195 broad.mit.edu 37 1 248436311 248436311 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:248436311T>C ENST00000318021.2 - 1 827 c.806A>G c.(805-807)gAc>gGc p.D269G NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CACAACCTTGTCATGGTTAGT 0.478000 43 249 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784221 9784221 + Missense_Mutation SNP G G T rs144132215 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:9784221G>T ENST00000304374.2 + 1 964 c.568G>T c.(568-570)Ggg>Tgg p.G190W NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 190 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane p.G190W(1) NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CTCTTGGGGCGGGCTGGACCT 0.617000 10 54 3.86212e-05 4.82521e-05 1 1 0 MUC2 4583 broad.mit.edu 37 11 1087465 1087465 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:1087465C>A ENST00000441003.2 + 24 3243 c.3216C>A c.(3214-3216)taC>taA p.Y1072* MUC2_ENST00000359061.5_Nonsense_Mutation_p.Y1072* NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1072 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) AGCCCTTCTACGAGGCCTGTG 0.647000 4 25 2.56e-06 3.47663e-06 1 1 0 IKBIP 121457 broad.mit.edu 37 12 99008049 99008049 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:99008049G>T ENST00000342502.2 - 3 778 c.367C>A c.(367-369)Cag>Aag p.Q123K IKBIP_ENST00000420861.1_Missense_Mutation_p.Q17K|IKBIP_ENST00000393042.3_3'UTR NM_201612.2 NP_963906.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 123 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 ATTTCTTCCTGTAGACGCTTT 0.323000 14 92 3.27435e-08 5.04244e-08 1 1 0 LRFN2 57497 broad.mit.edu 37 6 40400678 40400678 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:40400678G>T ENST00000338305.6 - 2 717 c.175C>A c.(175-177)Ctg>Atg p.L59M NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 59 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) TTGCCGCCCAGGCGCAGCTCC 0.602000 6 57 0.0477658 0.0500612 1 1 0 SPHKAP 80309 broad.mit.edu 37 2 228881203 228881203 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:228881203G>T ENST00000392056.3 - 7 4413 c.4367C>A c.(4366-4368)gCa>gAa p.A1456E SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1456E NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1456 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) ATGCCCTTCTGCTTCCTCTAG 0.498000 16 119 2.23348e-06 3.04435e-06 1 1 0 MAEL 84944 broad.mit.edu 37 1 166990920 166990920 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:166990920G>T ENST00000367872.4 + 12 1377 c.1133G>T c.(1132-1134)aGg>aTg p.R378M MAEL_ENST00000367870.2_Missense_Mutation_p.R347M|MAEL_ENST00000491055.1_3'UTR NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 378 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 TACCCATCTAGGGCAAAAATT 0.378000 22 62 9.95505e-16 1.91235e-15 1 1 0 INSRR 3645 broad.mit.edu 37 1 156823913 156823913 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:156823913C>A ENST00000368195.3 - 2 664 c.268G>T c.(268-270)Gga>Tga p.G90* NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 90 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) CTCTCCAGTCCGTAGACACGG 0.617000 8 52 5.18039e-06 6.86552e-06 1 1 0 SPATA5L1 79029 broad.mit.edu 37 15 45695586 45695586 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:45695586G>T ENST00000305560.6 + 1 1058 c.959G>T c.(958-960)cGc>cTc p.R320L SPATA5L1_ENST00000559860.1_Missense_Mutation_p.R320L NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 320 cytoplasm ATP binding|nucleoside-triphosphatase activity kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) CCCGAGAGCCGCGTAGTGGCC 0.706000 3 37 0.115264 0.119286 1 1 0 HOXA1 3198 broad.mit.edu 37 7 27134297 27134297 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:27134297G>C ENST00000343060.4 - 2 831 c.770C>G c.(769-771)gCc>gGc p.A257G HOXA1_ENST00000355633.5_3'UTR NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 257 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CACCCTGCGGGCGCGCGTCAG 0.567000 10 94 0 0 1 0 0 OR4P4 81300 broad.mit.edu 37 11 55406177 55406177 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:55406177G>T ENST00000314612.2 + 1 344 c.344G>T c.(343-345)gGg>gTg p.G115V NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 ATTCTCACAGGGATGGCCTAT 0.408000 18 48 3.32936e-07 4.81232e-07 1 1 0 PCDHAC1 56135 broad.mit.edu 37 5 140308176 140308176 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:140308176G>T ENST00000253807.2 + 1 1699 c.1699G>T c.(1699-1701)Gtg>Ttg p.V567L PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.V567L|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTGTCCCAGTGGAAATTGT 0.473000 20 147 3.51602e-12 6.30502e-12 1 1 0 SYCE1 93426 broad.mit.edu 37 10 135369108 135369108 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:135369108G>T ENST00000368517.3 - 11 853 c.715C>A c.(715-717)Cgg>Agg p.R239R SYCE1_ENST00000343131.5_Silent_p.R275R|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000432597.2_Silent_p.R239R NM_130784.2 NP_570140.1 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 275 cell division central element p.R275R(1)|p.R239R(1) breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1) 19 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) CACCTctgccgcttctgctgc 0.587000 4 13 0.00909568 0.00987474 1 1 0 C4BPB 725 broad.mit.edu 37 1 207263823 207263823 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:207263823C>A ENST00000243611.5 + 2 523 c.229C>A c.(229-231)Cgc>Agc p.R77S C4BPB_ENST00000451804.2_Missense_Mutation_p.R67S|C4BPB_ENST00000367078.3_Missense_Mutation_p.R77S|C4BPB_ENST00000367076.3_Missense_Mutation_p.R76S|C4BPB_ENST00000391923.1_Missense_Mutation_p.R77S NM_000716.3 NP_000707.1 P20851 C4BPB_HUMAN complement component 4 binding protein, beta 77 Sushi 1. blood coagulation|complement activation, classical pathway|innate immune response extracellular region breast(2)|lung(1)|ovary(1) 4 TACTGAGTGCCGCTGTAAGTT 0.418000 17 73 1.33834e-09 2.19068e-09 1 1 0 SLC35F1 222553 broad.mit.edu 37 6 118596723 118596723 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:118596723G>T ENST00000360388.4 + 5 940 c.739G>T c.(739-741)Gtg>Ttg p.V247L NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 247 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) TCTGAGCCGAGTGGAATTCCT 0.418000 9 61 1.76689e-08 2.75531e-08 1 1 0 OR2L8 391190 broad.mit.edu 37 1 248112226 248112226 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:248112226G>T ENST00000357191.3 + 1 67 c.67G>T c.(67-69)Gac>Tac p.D23Y OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ATCAAGAATTGACCTTTTCTT 0.398000 81 204 1.58458e-29 3.26834e-29 1 1 0 SPG20 23111 broad.mit.edu 37 13 36903531 36903531 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr13:36903531C>A ENST00000451493.1 - 4 1349 c.1132G>T c.(1132-1134)Gat>Tat p.D378Y SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000438666.2_Missense_Mutation_p.D378Y|SPG20_ENST00000355182.4_Missense_Mutation_p.D378Y|SPG20_ENST00000494062.2_Missense_Mutation_p.D378Y NM_001142295.1 NP_001135767.1 Q8N0X7 SPG20_HUMAN spastic paraplegia 20 (Troyer syndrome) 378 cell death cytoplasm ubiquitin protein ligase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 27 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) TGACGTACATCCTTATTGCCT 0.388000 34 181 1.22384e-17 2.40072e-17 1 1 0 USH2A 7399 broad.mit.edu 37 1 216371684 216371684 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:216371684A>G ENST00000366943.2 - 18 4440 c.4054T>C c.(4054-4056)Tgg>Cgg p.W1352R USH2A_ENST00000307340.3_Missense_Mutation_p.W1352R|USH2A_ENST00000366942.3_Missense_Mutation_p.W1352R|RP5-1099E6.3_ENST00000420867.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1352 Fibronectin type-III 3. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCTGAGACCCAGGCAGAAGAC 0.398000 HNSCC(13;0.011) 20 178 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45514706 45514706 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:45514706C>A ENST00000371438.1 + 8 1588 c.1230C>A c.(1228-1230)ctC>ctA p.L410L RUNX2_ENST00000371436.6_Silent_p.L388L|RUNX2_ENST00000465038.2_Silent_p.L410L|RUNX2_ENST00000541979.1_Silent_p.L456L|RUNX2_ENST00000371432.3_Silent_p.L374L|RUNX2_ENST00000352853.5_Silent_p.L478L|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000359524.5_Silent_p.L396L NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 410 Interaction with MYST3 (By similarity).|Interaction with MYST4.|Pro/Ser/Thr-rich. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 GCATGTCCCTCGGTATGTCCG 0.582000 11 42 1.58986e-06 2.19736e-06 1 1 0 GABRA6 2559 broad.mit.edu 37 5 161128767 161128767 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:161128767C>T ENST00000523217.1 + 9 1562 c.1320C>T c.(1318-1320)agC>agT p.S440S GABRA6_ENST00000274545.5_Silent_p.S450S NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 450 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AAGTCAGTAGCAGTGTTGAAT 0.378000 TCGA Ovarian(5;0.080) 16 91 0 0 1 0 0 HCLS1 3059 broad.mit.edu 37 3 121353096 121353096 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:121353096C>T ENST00000314583.3 - 10 952 c.861G>A c.(859-861)gaG>gaA p.E287E HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Silent_p.E250E NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 287 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) GTACTGCTGGCTCTTCCATAG 0.592000 16 73 0 0 1 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123484274 123484274 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:123484274C>G ENST00000529750.1 + 15 2033 c.1706C>G c.(1705-1707)gCc>gGc p.A569G GRAMD1B_ENST00000322282.7_Missense_Mutation_p.A569G|GRAMD1B_ENST00000450171.2_Missense_Mutation_p.A260G|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.A576G NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 569 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) CGTCCCCATGCCCACCTGCGA 0.577000 5 33 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133141762 133141762 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:133141762G>A ENST00000388996.4 - 15 2786 c.2366C>T c.(2365-2367)cCt>cTt p.P789L KCNQ3_ENST00000519445.1_Missense_Mutation_p.P777L|KCNQ3_ENST00000521134.1_Missense_Mutation_p.P669L NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 789 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CAGGGACAGAGGTGTGTCACT 0.607000 7 39 0 0 1 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140783658 140783658 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:140783658G>T ENST00000573521.1 + 1 1139 c.1139G>T c.(1138-1140)gGt>gTt p.G380V PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGAAGAATGGTCAAGTTGTC 0.413000 7 58 0.00307968 0.00344432 1 1 0 TMTC3 160418 broad.mit.edu 37 12 88548084 88548084 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:88548084G>T ENST00000266712.6 + 4 648 c.428G>T c.(427-429)aGa>aTa p.R143I NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 143 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 GTTGTTGGAAGAGCAGAACTT 0.303000 5 83 0.184627 0.187793 1 1 0 GRM4 2914 broad.mit.edu 37 6 34003718 34003718 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:34003718G>T ENST00000374181.3 - 8 2338 c.2169C>A c.(2167-2169)tcC>tcA p.S723S GRM4_ENST00000455714.2_Silent_p.S583S|GRM4_ENST00000538487.1_Silent_p.S723S|GRM4_ENST00000535756.1_Silent_p.S590S|GRM4_ENST00000544773.1_Silent_p.S554S|GRM4_ENST00000545715.1_Silent_p.S415S|GRM4_ENST00000374177.3_Silent_p.S607S NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 723 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) CCACCGAGTGGGAGGGGTCCA 0.637000 16 75 8.60227e-14 1.61279e-13 1 1 0 CPB1 1360 broad.mit.edu 37 3 148558672 148558672 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:148558672G>T ENST00000491148.1 + 6 718 c.384G>T c.(382-384)tgG>tgT p.W128C CPB1_ENST00000282957.4_Missense_Mutation_p.W128C P15086 CBPB1_HUMAN carboxypeptidase B1 (tissue) 128 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TAGAGGCTTGGACTCAACAAG 0.428000 15 133 2.35188e-11 4.13251e-11 1 1 0 RET 5979 broad.mit.edu 37 10 43612112 43612112 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:43612112C>A ENST00000355710.3 + 12 2449 c.2217C>A c.(2215-2217)gtC>gtA p.V739V RET_ENST00000340058.5_Silent_p.V739V NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 739 Protein kinase. homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) GAAAAGTGGTCAAGGCAACGG 0.527000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 24 170 9.39395e-14 1.75899e-13 1 1 0 SOX9 6662 broad.mit.edu 37 17 70119772 70119772 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:70119772C>A ENST00000245479.2 + 3 1146 c.774C>A c.(772-774)ccC>ccA p.P258P NM_000346.3 NP_000337.1 P48436 SOX9_HUMAN SRY (sex determining region Y)-box 9 258 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2) 26 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) AGGGGCGCCCCTTGCCAGAGG 0.647000 56 148 3.88204e-17 7.59507e-17 1 1 0 PTPRB 5787 broad.mit.edu 37 12 71002892 71002892 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:71002892C>A ENST00000334414.6 - 4 980 c.936G>T c.(934-936)agG>agT p.R312S PTPRB_ENST00000261266.5_Missense_Mutation_p.R94S|PTPRB_ENST00000550857.1_Missense_Mutation_p.R94S|PTPRB_ENST00000551525.1_Missense_Mutation_p.R311S|PTPRB_ENST00000550358.1_Missense_Mutation_p.R312S|PTPRB_ENST00000538708.1_Missense_Mutation_p.R94S|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Missense_Mutation_p.R94S NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 94 Fibronectin type-III 4. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GAGAAATAATCCTGAAGTTAT 0.498000 7 115 0.248553 0.251606 1 1 0 EXOC3L4 91828 broad.mit.edu 37 14 103570687 103570687 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:103570687G>T ENST00000380069.3 + 4 1321 c.1245G>T c.(1243-1245)caG>caT p.Q415H NM_001077594.1 NP_001071062.1 Q17RC7 EX3L4_HUMAN exocyst complex component 3-like 4 415 cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1) 10 AGGTGCTGCAGGGCCTCTACC 0.667000 3 7 0.004672 0.00515519 1 1 0 MTRR 4552 broad.mit.edu 37 5 7900080 7900080 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:7900080G>T ENST00000264668.2 + 15 2117 c.2087G>T c.(2086-2088)aGc>aTc p.S696I MTRR_ENST00000440940.2_Missense_Mutation_p.S669I NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 696 methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) CAAATAATAAGCAAAGAGGTT 0.353000 15 132 4.93089e-13 9.11784e-13 1 1 0 TMEM5 10329 broad.mit.edu 37 12 64173835 64173835 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:64173835G>C ENST00000261234.6 + 1 253 c.95G>C c.(94-96)cGc>cCc p.R32P RP11-415I12.3_ENST00000509615.2_RNA NM_014254.1 NP_055069.1 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 32 integral to plasma membrane breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1) 15 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) TTcgggcgccgccgccaggcg 0.711000 4 10 0 0 1 0 0 LCE2A 353139 broad.mit.edu 37 1 152671546 152671546 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:152671546G>T ENST00000368779.1 + 2 220 c.169G>T c.(169-171)Ggg>Tgg p.G57W NM_178428.3 NP_848515.1 Q5TA79 LCE2A_HUMAN late cornified envelope 2A 57 Cys-rich. keratinization p.C51_G64delCCGSSSGGCCSSGG(2) breast(1)|large_intestine(1)|liver(2)|lung(4) 8 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTCCAGCTCTGGGGGCTGCTG 0.682000 36 116 9.88483e-10 1.63607e-09 1 1 0 THTPA 79178 broad.mit.edu 37 14 24026169 24026169 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:24026169G>T ENST00000288014.6 + 1 939 c.203G>T c.(202-204)gGa>gTa p.G68V THTPA_ENST00000554789.1_Missense_Mutation_p.G68V|THTPA_ENST00000556015.1_Missense_Mutation_p.G68V|THTPA_ENST00000554970.1_Missense_Mutation_p.G68V|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000404535.3_Missense_Mutation_p.G68V|RP11-66N24.4_ENST00000556354.1_RNA Q9BU02 THTPA_HUMAN thiamine triphosphatase 68 dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process cytosol|nucleolus|soluble fraction thiamin-triphosphatase activity large_intestine(1)|prostate(2) 3 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00643) Thiamine(DB00152) AAATGTCCTGGAGCAGCAGGT 0.572000 10 43 2.17888e-05 2.77601e-05 1 1 0 BAI3 577 broad.mit.edu 37 6 69703720 69703720 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:69703720A>T ENST00000370598.1 + 11 2616 c.1795A>T c.(1795-1797)Acc>Tcc p.T599S NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 599 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GTCCCAGGTGACCAAGACACT 0.433000 21 217 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218677119 218677119 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:218677119C>A ENST00000171887.4 - 28 5144 c.4692G>T c.(4690-4692)ctG>ctT p.L1564L TNS1_ENST00000419504.1_Silent_p.L1550L|TNS1_ENST00000430930.1_Silent_p.L1543L NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 1564 SH2. cytoplasm|cytoskeleton|focal adhesion actin binding p.L1564L(1) breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GCTTGCAAGGCAGGGCCAATG 0.577000 5 27 5.9392e-07 8.50177e-07 1 1 0 PCDHB7 56129 broad.mit.edu 37 5 140554388 140554388 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:140554388C>A ENST00000231137.3 + 1 2146 c.1972C>A c.(1972-1974)Ctg>Atg p.L658M NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 658 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACCGCCACGCTGCACGTGCT 0.711000 13 162 6.31663e-08 9.6374e-08 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141143547 141143547 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:141143547C>A ENST00000389484.3 - 67 11417 c.10446G>T c.(10444-10446)caG>caT p.Q3482H NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3482 LDL-receptor class A 25. 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) TGTTTTTACACTGGAATTCAT 0.403000 TSP Lung(27;0.18) 17 140 6.94344e-10 1.15309e-09 1 1 0 UNC79 57578 broad.mit.edu 37 14 94067037 94067037 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:94067037C>A ENST00000553484.1 + 25 3649 c.3495C>A c.(3493-3495)ttC>ttA p.F1165L UNC79_ENST00000256339.4_Missense_Mutation_p.F988L|UNC79_ENST00000393151.2_Missense_Mutation_p.F1165L|UNC79_ENST00000555664.1_Missense_Mutation_p.F1165L Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1165 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GCTGGGAGTTCTTTGTCAATA 0.388000 7 38 5.18039e-06 6.86552e-06 1 1 0 KMT2D 8085 broad.mit.edu 37 12 49438257 49438257 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:49438257C>A ENST00000301067.7 - 20 5011 c.5012G>T c.(5011-5013)aGc>aTc p.S1671I NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CACATCAGGGCTGACGGGGCC 0.542000 OREG0021780 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 77 0.000422831 0.000499251 1 1 0 RASSF2 9770 broad.mit.edu 37 20 4764982 4764982 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:4764982G>T ENST00000379400.3 - 12 1113 c.918C>A c.(916-918)acC>acA p.T306T RASSF2_ENST00000379376.2_Silent_p.T306T|RASSF2_ENST00000478553.1_5'UTR NM_014737.2 NP_055552.1 P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 306 SARAH. cell cycle|signal transduction nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 GCCGGAGCACGGTGTACCTGG 0.597000 7 37 2.0095e-06 2.75169e-06 1 1 0 LRRC8C 84230 broad.mit.edu 37 1 90180148 90180148 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:90180148G>T ENST00000370454.4 + 3 2274 c.2019G>T c.(2017-2019)gaG>gaT p.E673D RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron NM_032270.4 NP_115646.2 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member C 673 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 28 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) ATAAAATAGAGGTGCTGCCTT 0.438000 8 67 0.00307968 0.00344432 1 1 0 CPA2 1358 broad.mit.edu 37 7 129919446 129919446 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:129919446C>A ENST00000222481.4 + 9 986 c.931C>A c.(931-933)Ctg>Atg p.L311M NM_001869.2 NP_001860.2 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) 311 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Melanoma(18;0.0435) CTATTCCCAGCTGCTGATGTT 0.433000 12 81 2.27111e-07 3.32483e-07 1 1 0 DUOX1 53905 broad.mit.edu 37 15 45453956 45453956 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:45453956C>A ENST00000321429.4 + 31 4284 c.3877C>A c.(3877-3879)Cag>Aag p.Q1293K CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.Q939K|DUOX1_ENST00000389037.3_Missense_Mutation_p.Q1293K NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 1293 FAD-binding FR-type. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) CCTGCGGTTCCAGCGGCCCCA 0.642000 9 49 5.4927e-09 8.74e-09 1 1 0 PIGO 84720 broad.mit.edu 37 9 35093138 35093138 + Silent SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:35093138T>C ENST00000378617.3 - 6 1402 c.1008A>G c.(1006-1008)ccA>ccG p.P336P PIGO_ENST00000298004.5_Silent_p.P336P|PIGO_ENST00000361778.2_Silent_p.P336P|PIGO_ENST00000341666.3_Silent_p.P336P NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 336 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TATTCCCAAATGGGATGGGCA 0.557000 11 32 0 0 1 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140712169 140712169 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:140712169C>A ENST00000517417.1 + 1 1918 c.1918C>A c.(1918-1920)Cag>Aag p.Q640K PCDHGA1_ENST00000378105.3_Missense_Mutation_p.Q640K NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGCTCAAGCAGAGTCTCGT 0.706000 18 85 3.32936e-07 4.81232e-07 1 1 0 COQ9 57017 broad.mit.edu 37 16 57485061 57485061 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:57485061G>T ENST00000262507.6 + 2 252 c.183G>T c.(181-183)caG>caT p.Q61H COQ9_ENST00000567933.1_Missense_Mutation_p.Q61H|COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567072.1_Missense_Mutation_p.Q61H NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 61 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 TTTCTCAGCAGCATTCTGAGA 0.542000 7 61 5.18039e-06 6.86552e-06 1 1 0 AOX1 316 broad.mit.edu 37 2 201485848 201485848 + Missense_Mutation SNP T T A rs146219485 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:201485848T>A ENST00000374700.2 + 18 2121 c.1880T>A c.(1879-1881)aTt>aAt p.I627N AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 627 I -> N (in Ref. 2; AAB83966). inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TCTAGGTCTATTGATCTGTCA 0.443000 24 126 0 0 1 0 0 KIAA0355 9710 broad.mit.edu 37 19 34824629 34824629 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:34824629G>A ENST00000299505.6 + 8 2157 c.1284G>A c.(1282-1284)caG>caA p.Q428Q NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 428 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) ACACAGCACAGATTGAGAATA 0.388000 21 61 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14787090 14787090 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:14787090G>T ENST00000358984.4 + 15 1905 c.1725G>T c.(1723-1725)tgG>tgT p.W575C ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.W575C NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 575 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 AAAATTCTTGGGATTCTGAGG 0.318000 4 47 0.00909568 0.00987474 1 1 0 STRIP1 85369 broad.mit.edu 37 1 110586445 110586445 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:110586445G>A ENST00000369795.3 + 10 1275 c.1253G>A c.(1252-1254)tGc>tAc p.C418Y STRIP1_ENST00000369796.1_Missense_Mutation_p.C323Y NM_033088.2 NP_149079.2 striatin interacting protein 1 AGGCTGACTTGCCCCAAAGGG 0.597000 8 56 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215847765 215847765 + Silent SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:215847765A>G ENST00000366943.2 - 63 13874 c.13488T>C c.(13486-13488)gaT>gaC p.D4496D USH2A_ENST00000307340.3_Silent_p.D4496D O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4496 Fibronectin type-III 30. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGAGAGTAAAATCACGATAGC 0.473000 HNSCC(13;0.011) 39 246 0 0 1 0 0 ZNF286B 729288 broad.mit.edu 37 17 18566103 18566103 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:18566103T>C ENST00000545289.1 - 5 966 c.716A>G c.(715-717)aAa>aGa p.K239R NM_001145045.1 NP_001138517.1 P0CG31 Z286B_HUMAN zinc finger protein 286B 239 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(1) 2 TTTTTTCTCTTTATAAGTTCT 0.363000 8 44 0 0 1 0 0 ZC3H14 79882 broad.mit.edu 37 14 89038457 89038457 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:89038457G>T ENST00000251038.5 + 5 544 c.319G>T c.(319-321)Gag>Tag p.E107* ZC3H14_ENST00000555755.1_Nonsense_Mutation_p.E107*|ZC3H14_ENST00000336693.4_Nonsense_Mutation_p.E73*|ZC3H14_ENST00000359301.3_Nonsense_Mutation_p.E73*|ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000302216.8_Nonsense_Mutation_p.E107*|ZC3H14_ENST00000393514.5_Nonsense_Mutation_p.E107*|ZC3H14_ENST00000556945.1_Nonsense_Mutation_p.E107* NM_001160103.1|NM_001160104.1|NM_024824.4 NP_001153575.1|NP_001153576.1|NP_079100.2 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 107 cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 TCGGGGAGATGAGAGGAGGCA 0.443000 8 69 5.18039e-06 6.86552e-06 1 1 0 ZNF804A 91752 broad.mit.edu 37 2 185802200 185802200 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:185802200T>A ENST00000302277.6 + 4 2671 c.2077T>A c.(2077-2079)Tgt>Agt p.C693S NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 693 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TAAAAACCACTGTAAAAAGAA 0.303000 10 74 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25458680 25458680 + RNA SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:25458680C>A ENST00000424208.1 + 0 2637 SNHG14_ENST00000424333.1_RNA NR_003305.1 TTTCCCAGCCCCTGGTGCACT 0.592000 8 29 0.00307968 0.00344432 1 1 0 OR2G6 391211 broad.mit.edu 37 1 248685706 248685706 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:248685706G>T ENST00000343414.4 + 1 791 c.759G>T c.(757-759)ggG>ggT p.G253G NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTTTCTATGGGACCATCATAT 0.443000 14 127 9.31168e-06 1.22314e-05 1 1 0 ZNF609 23060 broad.mit.edu 37 15 64966341 64966341 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:64966341G>T ENST00000326648.3 + 4 1416 c.1288G>T c.(1288-1290)Gtc>Ttc p.V430F ZNF609_ENST00000559364.1_3'UTR NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 430 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TTCTGAGGATGTCAAGGCCAG 0.547000 14 105 2.61681e-11 4.57095e-11 1 1 0 ITGA2 3673 broad.mit.edu 37 5 52374657 52374657 + Missense_Mutation SNP G G A rs143880458 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:52374657G>A ENST00000296585.5 + 24 3024 c.2881G>A c.(2881-2883)Gtg>Atg p.V961M NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 961 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) TCCTTCAATCGTGCACAGTTT 0.368000 4 42 0 0 1 0 0 BHLHB9 80823 broad.mit.edu 37 X 102005457 102005457 + Missense_Mutation SNP A A C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:102005457A>C ENST00000372735.1 + 4 2119 c.1534A>C c.(1534-1536)Aac>Cac p.N512H BHLHB9_ENST00000448867.1_Missense_Mutation_p.N512H|BHLHB9_ENST00000447531.1_Missense_Mutation_p.N512H|BHLHB9_ENST00000361229.4_Missense_Mutation_p.N512H|BHLHB9_ENST00000457056.1_Missense_Mutation_p.N512H Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 512 cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CATATTTATTAACATAAAGGA 0.358000 24 104 0 0 1 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356582 37356582 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:37356582C>A ENST00000217420.1 + 2 1141 c.878C>A c.(877-879)gCc>gAc p.A293D NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 293 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CGCGACTGGGCCTGGGAGAAG 0.547000 8 51 0.000157383 0.000189601 1 1 0 ANGPT2 285 broad.mit.edu 37 8 6378889 6378889 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:6378889G>C ENST00000325203.5 - 4 1083 c.609C>G c.(607-609)atC>atG p.I203M MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000523120.1_Missense_Mutation_p.I203M|ANGPT2_ENST00000338312.6_Missense_Mutation_p.I151M|ANGPT2_ENST00000415216.1_Missense_Mutation_p.I203M O15123 ANGP2_HUMAN angiopoietin 2 203 angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) GTAGTTGGATGATGTGCTTGT 0.323000 4 51 0 0 1 0 0 COG4 25839 broad.mit.edu 37 16 70531930 70531930 + Silent SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:70531930G>C ENST00000323786.5 - 10 1245 c.1224C>G c.(1222-1224)ctC>ctG p.L408L NM_001195139.1|NM_015386.2 NP_001182068.1|NP_056201.2 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 404 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) GGCAGTTATTGAGGAGTTTGT 0.418000 14 100 0 0 1 0 0 KLHDC4 54758 broad.mit.edu 37 16 87743097 87743097 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:87743097C>A ENST00000270583.5 - 10 1279 c.1221G>T c.(1219-1221)tcG>tcT p.S407S KLHDC4_ENST00000353170.5_Silent_p.S350S|KLHDC4_ENST00000347925.5_Silent_p.S376S|KLHDC4_ENST00000566349.1_5'UTR NM_017566.3 NP_060036.2 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 407 breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 21 BRCA - Breast invasive adenocarcinoma(80;0.0283) GCTGCCCCGCCGAGCCTGGCG 0.697000 4 33 0.184627 0.187793 1 1 0 OGDHL 55753 broad.mit.edu 37 10 50952058 50952058 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:50952058C>A ENST00000374103.4 - 14 1928 c.1843G>T c.(1843-1845)Gac>Tac p.D615Y OGDHL_ENST00000432695.1_Missense_Mutation_p.D406Y|OGDHL_ENST00000419399.1_Missense_Mutation_p.D558Y NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 615 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 ATCTTAAAGTCCTCCAGGGGC 0.617000 3 20 0.150653 0.154188 1 1 0 TENM4 26011 broad.mit.edu 37 11 78380493 78380493 + Silent SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:78380493G>C ENST00000278550.7 - 32 7359 c.6897C>G c.(6895-6897)cgC>cgG p.R2299R NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TGCTGGACACGCGCCGCCCCA 0.592000 17 88 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163302574 163302574 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:163302574G>T ENST00000332142.5 - 7 1607 c.1508C>A c.(1507-1509)gCa>gAa p.A503E KCNH7_ENST00000328032.4_Missense_Mutation_p.A496E NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 503 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) AGGAATTGCTGCAACCATGTC 0.358000 10 53 7.48243e-07 1.05882e-06 1 1 0 SLCO4A1 28231 broad.mit.edu 37 20 61303187 61303187 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:61303187C>T ENST00000217159.1 + 12 2316 c.2111C>T c.(2110-2112)cCc>cTc p.P704L SLCO4A1_ENST00000370507.1_Missense_Mutation_p.P704L NM_016354.3 NP_057438.3 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family, member 4A1 704 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2) 21 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) ACTTGTCTGCCCAGCCAGTCC 0.627000 20 105 0 0 1 0 0 POP1 10940 broad.mit.edu 37 8 99170233 99170233 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:99170233G>T ENST00000401707.2 + 16 2890 c.2809G>T c.(2809-2811)Gtg>Ttg p.V937L POP1_ENST00000349693.3_Missense_Mutation_p.V937L NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 937 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) GGAAGAGCCCGTGGCTGGGCA 0.582000 24 142 2.21704e-12 4.02924e-12 1 1 0 MINA 84864 broad.mit.edu 37 3 97664120 97664120 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:97664120T>A ENST00000333396.6 - 10 1888 c.1306A>T c.(1306-1308)Att>Ttt p.I436F MINA_ENST00000360258.4_Missense_Mutation_p.I435F|MINA_ENST00000394198.2_Missense_Mutation_p.I436F NM_001042533.2|NM_032778.5 NP_001035998.1|NP_116167.3 Q8IUF8 MINA_HUMAN MYC induced nuclear antigen 436 ribosome biogenesis cytoplasm|nucleolus breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1) 13 TTGACAGAAATAGCTGGACTA 0.373000 21 107 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40944479 40944479 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:40944479C>A ENST00000373198.3 - 12 2258 c.2023G>T c.(2023-2025)Gtc>Ttc p.V675F PTPRT_ENST00000373201.1_Missense_Mutation_p.V675F|PTPRT_ENST00000373193.3_Missense_Mutation_p.V675F|PTPRT_ENST00000356100.2_Missense_Mutation_p.V675F|PTPRT_ENST00000373187.1_Missense_Mutation_p.V675F|PTPRT_ENST00000373184.1_Missense_Mutation_p.V675F|PTPRT_ENST00000373190.1_Missense_Mutation_p.V675F NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 675 Fibronectin type-III 4. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGCTGGGTGACAGGCAGGTTG 0.507000 21 114 4.35082e-09 7.00571e-09 1 1 0 DGKI 9162 broad.mit.edu 37 7 137237295 137237295 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:137237295C>G ENST00000453654.1 - 20 1606 c.1067G>C c.(1066-1068)gGc>gCc p.G356A DGKI_ENST00000446122.1_Missense_Mutation_p.G656A|DGKI_ENST00000288490.5_Missense_Mutation_p.G656A|DGKI_ENST00000424189.2_Missense_Mutation_p.G656A O75912 DGKI_HUMAN diacylglycerol kinase, iota 656 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 CTCTCCATGGCCCCCAACTTG 0.522000 13 137 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143771913 143771913 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:143771913G>A ENST00000408898.2 + 1 639 c.601G>A c.(601-603)Ggg>Agg p.G201R NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) GGTTTTGGCAGGGGCAGTGTC 0.448000 22 166 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516075 140516075 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:140516075C>A ENST00000231134.5 + 1 1276 c.1059C>A c.(1057-1059)agC>agA p.S353R NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 353 Cadherin 4. 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) CGCTCTCCAGCCCTACCCCAG 0.522000 20 133 4.35082e-09 7.00571e-09 1 1 0 NEUROD1 4760 broad.mit.edu 37 2 182542871 182542871 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:182542871G>A ENST00000295108.3 - 2 1174 c.717C>T c.(715-717)gtC>gtT p.V239V NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 239 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) TAACGTGGAAGACATGGGAGC 0.622000 17 97 0 0 1 0 0 TRBV2 28620 broad.mit.edu 37 7 142001045 142001045 + RNA SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:142001045C>A ENST00000455382.2 + 0 211 GTCCCCATCTCTAATCACTTA 0.428000 7 25 0.248553 0.251606 1 1 0 CNTNAP4 85445 broad.mit.edu 37 16 76486533 76486533 + Silent SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:76486533T>A ENST00000307431.8 + 9 1582 c.1197T>A c.(1195-1197)acT>acA p.T399T CNTNAP4_ENST00000377504.4_Silent_p.T351T|CNTNAP4_ENST00000476707.1_Silent_p.T403T|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.T327T NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 400 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 AATTTCGAACTTGGAATAAGG 0.463000 13 80 0 0 1 0 0 STT3A 3703 broad.mit.edu 37 11 125474073 125474073 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:125474073G>C ENST00000392708.4 + 6 598 c.439G>C c.(439-441)Gct>Cct p.A147P STT3A_ENST00000531491.1_Missense_Mutation_p.A55P|STT3A_ENST00000529196.1_Missense_Mutation_p.A147P NM_001278503.1|NM_001278504.1|NM_152713.3 NP_001265432.1|NP_001265433.1|NP_689926.1 P46977 STT3A_HUMAN STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 147 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 33 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) TGGGCTTCTTGCTGCTGCCAT 0.423000 15 61 0 0 1 0 0 FEZ1 9638 broad.mit.edu 37 11 125330419 125330419 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:125330419G>A ENST00000278919.3 - 5 876 c.642C>T c.(640-642)acC>acT p.T214T FEZ1_ENST00000527350.1_Intron NM_005103.4 NP_005094.1 Q99689 FEZ1_HUMAN fasciculation and elongation protein zeta 1 (zygin I) 214 axon guidance|cell adhesion|transport microtubule|plasma membrane breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 24 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934) TGTTGTTGAAGGTCTGTGTCA 0.592000 17 63 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43058208 43058208 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:43058208C>A ENST00000316099.3 + 10 1417 c.1328C>A c.(1327-1329)tCt>tAt p.S443Y HNF4A_ENST00000457232.1_Missense_Mutation_p.S411Y|HNF4A_ENST00000415691.1_Missense_Mutation_p.S433Y NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 443 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GGCTCAGGGTCTGAGCCCTAT 0.602000 16 174 2.23348e-06 3.04435e-06 1 1 0 OR2M2 391194 broad.mit.edu 37 1 248343347 248343347 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:248343347C>A ENST00000359682.2 + 1 60 c.60C>A c.(58-60)caC>caA p.H20Q NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TCTTCAATCACAGCCCACCAC 0.468000 36 329 3.62531e-18 7.18761e-18 1 1 0 FRMPD2 143162 broad.mit.edu 37 10 49376706 49376706 + Missense_Mutation SNP G G T rs150374667 byFrequency TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:49376706G>T ENST00000374201.3 - 27 3771 c.3469C>A c.(3469-3471)Cag>Aag p.Q1157K FRMPD2_ENST00000305531.3_Missense_Mutation_p.Q1132K|FRMPD2_ENST00000407470.4_Missense_Mutation_p.Q1125K|FRMPD2_ENST00000474573.1_Missense_Mutation_p.Q109K|FRMPD2_ENST00000463706.1_5'UTR NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 1157 PDZ 3. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) GTGACTTCCTGTGGGGCCCCT 0.562000 15 100 6.49762e-13 1.19257e-12 1 1 0 FAM13C 220965 broad.mit.edu 37 10 61011294 61011294 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:61011294T>C ENST00000435852.2 - 13 1722 c.1675A>G c.(1675-1677)Aga>Gga p.R559G FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000373868.2_Intron|FAM13C_ENST00000468840.2_Intron|FAM13C_ENST00000373867.3_Intron|FAM13C_ENST00000277705.6_Intron|FAM13C_ENST00000442566.3_Intron Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 0 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 AGCAATTCTCTAGGAAGTATT 0.363000 23 100 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112460954 112460954 + Splice_Site SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:112460954C>A ENST00000230538.7 - 23 3507 c.3110_splice c.e23+1 p.R1037_splice LAMA4_ENST00000389463.4_Splice_Site_p.R1030_splice|LAMA4_ENST00000424408.2_Splice_Site_p.R1030_splice|LAMA4_ENST00000522006.1_Splice_Site_p.R1030_splice NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 1037 cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TGTCTCTTACCGGGCACATGG 0.418000 18 107 3.51602e-12 6.30502e-12 1 1 0 ARFGEF2 10564 broad.mit.edu 37 20 47570260 47570260 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:47570260G>T ENST00000371917.4 + 6 771 c.771G>T c.(769-771)agG>agT p.R257S NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 257 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) AACATGCCAGGAGTGATTCTG 0.468000 13 48 1.05317e-09 1.73539e-09 1 1 0 PPP1R3B 79660 broad.mit.edu 37 8 8998907 8998907 + Silent SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:8998907C>G ENST00000310455.3 - 2 405 c.255G>C c.(253-255)ccG>ccC p.P85P PPP1R3B_ENST00000519699.1_Silent_p.P85P NM_001201329.1|NM_024607.3 NP_001188258.1|NP_078883.2 Q86XI6 PPR3B_HUMAN protein phosphatase 1, regulatory subunit 3B 85 glycogen metabolic process endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 12 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) GCATATCTAGCGGGTCATCGA 0.527000 23 103 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167419981 167419981 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:167419981C>A ENST00000519204.1 + 4 735 c.617C>A c.(616-618)aCa>aAa p.T206K TENM2_ENST00000518659.1_Missense_Mutation_p.T327K|TENM2_ENST00000520394.1_Missense_Mutation_p.T136K|TENM2_ENST00000520393.1_3'UTR|TENM2_ENST00000403607.2_Missense_Mutation_p.T160K|TENM2_ENST00000545108.1_Missense_Mutation_p.T327K teneurin transmembrane protein 2 TCGGGGAGCACACCCTTGTTC 0.552000 12 84 7.03913e-09 1.11887e-08 1 1 0 INSR 3643 broad.mit.edu 37 19 7125355 7125355 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:7125355C>A ENST00000341500.5 - 16 3200 c.3161G>T c.(3160-3162)cGa>cTa p.R1054L INSR_ENST00000302850.5_Missense_Mutation_p.R1066L NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 1066 Protein kinase. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AATCCGCTCTCGGAGACTGGC 0.597000 13 61 2.27111e-07 3.32483e-07 1 1 0 OR11H6 122748 broad.mit.edu 37 14 20692355 20692355 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:20692355G>T ENST00000315519.2 + 1 565 c.487G>T c.(487-489)Gtc>Ttc p.V163F NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) TATAATTCTGGTCTGTGTATG 0.463000 16 75 2.31682e-05 2.94417e-05 1 1 0 DPEP2 64174 broad.mit.edu 37 16 68026487 68026487 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:68026487C>A ENST00000412757.2 - 4 981 c.316G>T c.(316-318)Gat>Tat p.D106Y DPEP2_ENST00000393847.1_Missense_Mutation_p.D106Y|DPEP2_ENST00000572888.1_Missense_Mutation_p.D106Y Q9H4A9 DPEP2_HUMAN dipeptidase 2 106 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) AGGTTAACATCCTGTAGCCCT 0.587000 10 74 2.17888e-05 2.77601e-05 1 1 0 HOXB13 10481 broad.mit.edu 37 17 46804379 46804379 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:46804379C>A ENST00000290295.7 - 2 1212 c.628G>T c.(628-630)Gcc>Tcc p.A210S NM_006361.5 NP_006352.2 Q92826 HXB13_HUMAN homeobox B13 210 angiogenesis|epidermis development|response to wounding sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|lung(6)|prostate(1) 11 AAGGCGCAGGCGTCAGGAGGG 0.622000 6 67 0.00116845 0.00133498 1 1 0 PRDM14 63978 broad.mit.edu 37 8 70978683 70978683 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:70978683A>T ENST00000276594.2 - 5 1171 c.970T>A c.(970-972)Tgg>Agg p.W324R NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 324 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) TAGGACATCCAGTTCCCCGTA 0.413000 27 136 0 0 1 0 0 RTP2 344892 broad.mit.edu 37 3 187416469 187416469 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:187416469C>A ENST00000358241.1 - 2 923 c.495G>T c.(493-495)tgG>tgT p.W165C NM_001004312.2 NP_001004312.2 Q5QGT7 RTP2_HUMAN receptor (chemosensory) transporter protein 2 165 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding large_intestine(3)|lung(14)|skin(1) 18 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) CGCTGGGCTTCCAGTGAACGA 0.647000 7 38 1.06961e-07 1.61367e-07 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141680609 141680609 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:141680609C>A ENST00000389484.3 - 21 4215 c.3244G>T c.(3244-3246)Ggt>Tgt p.G1082C NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1082 LDL-receptor class A 8. 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) TCATCACTACCATCTTCACAG 0.433000 TSP Lung(27;0.18) 18 117 3.32936e-07 4.81232e-07 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25451254 25451254 + RNA SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:25451254C>A ENST00000424208.1 + 0 2384 SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA NR_003305.1 GAGGAAGACCCCGTGGCTCTG 0.642000 6 29 0.00116845 0.00133498 1 1 0 INSRR 3645 broad.mit.edu 37 1 156821923 156821923 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:156821923C>T ENST00000368195.3 - 3 1094 c.698G>A c.(697-699)tGc>tAc p.C233Y NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 233 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) GCCCCCCAGGCATTCGGTGTG 0.677000 7 40 0 0 1 0 0 OR4K1 79544 broad.mit.edu 37 14 20404500 20404500 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:20404500C>A ENST00000285600.4 + 1 734 c.675C>A c.(673-675)gtC>gtA p.V225V NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V225V(2) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TGATCGGTGTCCGATGCAGGT 0.418000 5 101 0.184627 0.187793 1 1 0 OR1C1 26188 broad.mit.edu 37 1 247921269 247921269 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:247921269C>A ENST00000408896.2 - 1 713 c.440G>T c.(439-441)gGa>gTa p.G147V NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AAGCCACAGTCCAGCCACTAG 0.488000 24 47 6.32553e-13 1.16387e-12 1 1 0 CNTNAP2 26047 broad.mit.edu 37 7 147914554 147914554 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:147914554G>T ENST00000361727.3 + 19 3701 c.3185G>T c.(3184-3186)tGc>tTc p.C1062F CNTNAP2_ENST00000538075.1_Missense_Mutation_p.C121F NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1062 Laminin G-like 4. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AAGGCGCCCTGCATTCTCCTC 0.562000 HNSCC(39;0.1) 19 117 1.01871e-10 1.75058e-10 1 1 0 APBA2 321 broad.mit.edu 37 15 29406162 29406162 + Missense_Mutation SNP C C A rs148579265 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:29406162C>A ENST00000558402.1 + 15 2720 c.2121C>A c.(2119-2121)agC>agA p.S707R APBA2_ENST00000558330.1_Missense_Mutation_p.S695R|APBA2_ENST00000558259.1_Missense_Mutation_p.S707R|APBA2_ENST00000411764.1_Missense_Mutation_p.S695R|APBA2_ENST00000561069.1_Missense_Mutation_p.S707R Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 707 PDZ 2. 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) ACGGGCAGAGCGTGGTGGCCA 0.607000 9 58 0.0477658 0.0500612 1 1 0 PCDHGA12 26025 broad.mit.edu 37 5 140812537 140812537 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:140812537G>T ENST00000252085.3 + 1 2353 c.2211G>T c.(2209-2211)gcG>gcT p.A737A PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCGCCGGCGTCGCACTTTG 0.642000 20 114 2.4624e-09 3.98661e-09 1 1 0 CD19 930 broad.mit.edu 37 16 28948839 28948839 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:28948839C>A ENST00000538922.1 + 10 1429 c.1367C>A c.(1366-1368)tCc>tAc p.S456Y CD19_ENST00000567541.1_Missense_Mutation_p.S456Y|CD19_ENST00000324662.3_Missense_Mutation_p.S456Y NM_001178098.1|NM_001770.5 NP_001171569.1|NP_001761.3 P15391 CD19_HUMAN CD19 molecule 456 cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1) 29 GACTCCTTCTCCAACGGTAAC 0.572000 11 102 0.0135373 0.0146539 1 1 0 CCDC74B 91409 broad.mit.edu 37 2 130897863 130897863 + Silent SNP C C A rs145115485 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:130897863C>A ENST00000392984.3 - 4 1814 c.1071G>T c.(1069-1071)gcG>gcT p.A357A CCDC74B_ENST00000310463.6_Silent_p.A255A|CCDC74B_ENST00000409943.3_Silent_p.A189A Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B 255 endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(110;0.1) GGGGGTGTGCCGCCGCCCCCA 0.607000 20 131 1.28384e-07 1.91158e-07 1 1 0 COL14A1 7373 broad.mit.edu 37 8 121357758 121357758 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:121357758G>T ENST00000297848.3 + 45 5303 c.5033G>T c.(5032-5034)gGc>gTc p.G1678V COL14A1_ENST00000309791.4_Missense_Mutation_p.G1678V|COL14A1_ENST00000247781.3_Missense_Mutation_p.G1583V NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1678 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GGCACACCAGGCTTCCCCGGA 0.647000 9 57 3.86212e-05 4.82521e-05 1 1 0 PRUNE2 158471 broad.mit.edu 37 9 79325169 79325169 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:79325169C>A ENST00000428286.1 - 8 2144 c.944G>T c.(943-945)aGt>aTt p.S315I PRUNE2_ENST00000376718.3_Missense_Mutation_p.S674I Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 674 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TTCCTGTTCACTGGAACTCCA 0.493000 7 47 2.0095e-06 2.75169e-06 1 1 0 DIP2C 22982 broad.mit.edu 37 10 402210 402210 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:402210C>G ENST00000540204.1 - 8 1327 c.1104G>C c.(1102-1104)agG>agC p.R368S DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000280886.6_Intron Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 0 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) AAAAACAATCCCTAGGTACAA 0.353000 4 10 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182706 57182706 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:57182706G>T ENST00000504228.1 + 6 3143 c.3038G>T c.(3037-3039)cGc>cTc p.R1013L KIAA1211_ENST00000541073.1_Missense_Mutation_p.R1006L|KIAA1211_ENST00000264229.6_Missense_Mutation_p.R1013L Q6ZU35 K1211_HUMAN KIAA1211 1013 Pro-rich. 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) AGCAGTGACCGCCGGCCACCC 0.662000 3 18 0.004672 0.00515519 1 1 0 SLC12A2 6558 broad.mit.edu 37 5 127420129 127420129 + Silent SNP G G T rs150435168 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:127420129G>T ENST00000262461.2 + 1 672 c.483G>T c.(481-483)ggG>ggT p.G161G SLC12A2_ENST00000343225.4_Silent_p.G161G NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 161 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) ATGCTGCCGGGGTCGGAGTCG 0.697000 4 20 1.23904e-05 1.602e-05 1 1 0 CORIN 10699 broad.mit.edu 37 4 47645123 47645123 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:47645123C>A ENST00000504584.1 - 14 2153 c.1997G>T c.(1996-1998)tGc>tTc p.C666F CORIN_ENST00000502252.1_Intron|CORIN_ENST00000508498.1_Intron|CORIN_ENST00000273857.4_Intron|CORIN_ENST00000505909.1_Intron NM_001278586.1 NP_001265515.1 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 0 LDL-receptor class A 7. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 GGCTGACAGGCATGAGAGAGT 0.438000 6 37 0.0215528 0.0228632 1 1 0 CNTNAP4 85445 broad.mit.edu 37 16 76569546 76569546 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:76569546G>C ENST00000307431.8 + 19 3242 c.2857G>C c.(2857-2859)Gtg>Ctg p.V953L CNTNAP4_ENST00000377504.4_Missense_Mutation_p.V905L|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.V957L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.V881L NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 954 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GACTCCAGAAGTGCAGCCAGG 0.527000 4 47 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 29 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142562313 142562313 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:142562313G>T ENST00000392957.2 + 7 1542 c.755G>T c.(754-756)gGg>gTg p.G252V EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.G252V NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 252 Cys-rich. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GGGGCTGGGGGGGCCTCCCTG 0.677000 24 95 9.86323e-18 1.93994e-17 1 1 0 KIF26B 55083 broad.mit.edu 37 1 245809467 245809467 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:245809467T>A ENST00000366518.4 + 7 1104 c.1000T>A c.(1000-1002)Tgt>Agt p.C334S KIF26B_ENST00000407071.2_Missense_Mutation_p.C715S Q2KJY2 KI26B_HUMAN kinesin family member 26B 715 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) TCTCGGCAGCTGTGTGAAAGC 0.507000 10 44 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55659078 55659078 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:55659078C>A ENST00000449290.2 + 7 1421 c.1329C>A c.(1327-1329)ctC>ctA p.L443L TRIM51_ENST00000244891.3_Silent_p.L300L NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 443 B30.2/SPRY. intracellular zinc ion binding CACCTCCTCTCAGGCCTATCT 0.453000 21 207 8.34094e-07 1.17136e-06 1 1 0 PRSS35 167681 broad.mit.edu 37 6 84233788 84233788 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:84233788G>T ENST00000536636.1 + 3 973 c.628G>T c.(628-630)Gct>Tct p.A210S PRSS35_ENST00000369700.3_Missense_Mutation_p.A210S NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 210 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) CAGGAGAGAAGCTAGTGGTGG 0.498000 12 59 6.40141e-05 7.91768e-05 1 1 0 USH2A 7399 broad.mit.edu 37 1 216062356 216062356 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:216062356C>A ENST00000366943.2 - 41 8021 c.7635G>T c.(7633-7635)aaG>aaT p.K2545N USH2A_ENST00000307340.3_Missense_Mutation_p.K2545N|RP5-1111A8.3_ENST00000414995.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2545 Fibronectin type-III 12. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCATTCTTGACTTCACATCCA 0.418000 HNSCC(13;0.011) 30 103 1.7881e-09 2.92043e-09 1 1 0 ARMC4 55130 broad.mit.edu 37 10 28276389 28276389 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:28276389C>A ENST00000305242.5 - 3 400 c.308G>T c.(307-309)aGc>aTc p.S103I NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 103 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 CTGCCCAAAGCTCCTAATTTT 0.373000 16 81 1.99824e-07 2.95452e-07 1 1 0 FCN1 2219 broad.mit.edu 37 9 137801709 137801709 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:137801709A>T ENST00000371806.3 - 9 1007 c.916T>A c.(916-918)Tgg>Agg p.W306R NM_002003.3 NP_001994.2 O00602 FCN1_HUMAN ficolin (collagen/fibrinogen domain containing) 1 306 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) GCCGCACTCCAGTTGATACCA 0.557000 14 97 0 0 1 0 0 TLR9 54106 broad.mit.edu 37 3 52255417 52255417 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:52255417C>T ENST00000597542.1 - 9 3944 c.2987G>A c.(2986-2988)aGc>aAc p.S996N TLR9_ENST00000494383.1_Silent_p.E1125E|TLR9_ENST00000360658.2_Missense_Mutation_p.S972N Q9NR96 TLR9_HUMAN toll-like receptor 9 972 TIR. defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) GCCGTCAGGGCTCAGGATCAC 0.706000 4 41 0 0 1 0 0 VGLL3 389136 broad.mit.edu 37 3 87017763 87017763 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:87017763A>T ENST00000398399.2 - 3 1277 c.914T>A c.(913-915)gTg>gAg p.V305E VGLL3_ENST00000383698.3_Missense_Mutation_p.V305E NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 305 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) CACGCTGGGCACTATGTCTAC 0.428000 13 56 0 0 1 0 0 LRRTM3 347731 broad.mit.edu 37 10 68688096 68688096 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:68688096C>A ENST00000361320.4 + 2 2000 c.1422C>A c.(1420-1422)ccC>ccA p.P474P CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 474 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 AAATGACTCCCAGCACCCAGG 0.522000 10 74 0.00621372 0.00683601 1 1 0 BOD1L1 259282 broad.mit.edu 37 4 13605278 13605278 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:13605278C>A ENST00000040738.5 - 10 3381 c.3246G>T c.(3244-3246)atG>atT p.M1082I NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1082 DNA binding CTCCTTTGGCCATTTCTTGTG 0.428000 9 72 0.000274275 0.00032488 1 1 0 LCP1 3936 broad.mit.edu 37 13 46726970 46726970 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr13:46726970C>A ENST00000398576.2 - 10 1072 c.684G>T c.(682-684)ctG>ctT p.L228L LCP1_ENST00000323076.2_Silent_p.L228L P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 228 Actin-binding 1.|CH 1. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) TGACTTGCCACAGAAGTCCCA 0.488000 T BCL6 NHL 9 40 0.000274275 0.00032488 1 1 0 TG 7038 broad.mit.edu 37 8 133913770 133913770 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:133913770C>A ENST00000220616.4 + 16 3646 c.3606C>A c.(3604-3606)cgC>cgA p.R1202R TG_ENST00000377869.1_Silent_p.R1202R NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1202 Thyroglobulin type-1 10. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CTGGGACGCGCGTGACCGGGG 0.627000 7 52 0.00307968 0.00344432 1 1 0 GJB4 127534 broad.mit.edu 37 1 35227443 35227443 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:35227443C>T ENST00000339480.1 + 2 958 c.588C>T c.(586-588)atC>atT p.I196I RP1-34M23.5_ENST00000542839.1_RNA NM_153212.2 NP_694944.1 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4, 30.3kDa 196 cell communication connexon complex|integral to membrane gap junction channel activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) CAGCTGCCATCTGCATCCTGC 0.612000 7 31 0 0 1 0 0 OR2W5 441932 broad.mit.edu 37 1 247654856 247654856 + RNA SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:247654856C>G ENST00000522351.1 + 0 487 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TCTCTGCCTGCAGCTGGTGAC 0.607000 14 88 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124382516 124382516 + Splice_Site SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:124382516T>A ENST00000409039.3 + 54 9149 c.e54+2 NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 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) GTAATATAGGTAAGCCTTGGG 0.388000 6 24 0 0 1 0 0 SYTL4 94121 broad.mit.edu 37 X 99956298 99956298 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:99956298C>A ENST00000372981.1 - 4 540 c.354G>T c.(352-354)tgG>tgT p.W118C SYTL4_ENST00000372989.1_Missense_Mutation_p.W118C|SYTL4_ENST00000455616.1_Missense_Mutation_p.W118C|SYTL4_ENST00000454200.2_Missense_Mutation_p.W118C|SYTL4_ENST00000276141.6_Missense_Mutation_p.W118C|SYTL4_ENST00000263033.5_Missense_Mutation_p.W118C Q96C24 SYTL4_HUMAN synaptotagmin-like 4 118 RabBD. exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGTCATAAAACCAGTCCCCAG 0.428000 11 33 0.000978159 0.00112538 1 1 0 DPP10 57628 broad.mit.edu 37 2 116539928 116539928 + Splice_Site SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:116539928G>T ENST00000410059.1 + 17 1964 c.1483_splice c.e17-1 p.G495_splice DPP10_ENST00000393147.2_Splice_Site_p.G499_splice|DPP10_ENST00000310323.8_Splice_Site_p.G488_splice|DPP10_ENST00000409163.1_Splice_Site_p.G445_splice NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 495 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 TAAATTCCAGGTCCAAGGGTC 0.348000 11 48 0.000978159 0.00112538 1 1 0 SRRM2 23524 broad.mit.edu 37 16 2811927 2811927 + Silent SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:2811927A>T ENST00000301740.8 + 11 1947 c.1398A>T c.(1396-1398)cgA>cgT p.R466R NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 466 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CACATGGCCGAGCAAAACGGG 0.562000 19 127 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169468076 169468076 + Missense_Mutation SNP G G T rs139600790 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:169468076G>T ENST00000256935.8 + 37 3763 c.3683G>T c.(3682-3684)cGc>cTc p.R1228L DOCK2_ENST00000540750.1_Missense_Mutation_p.R289L|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R720L NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1228 DHR-2.|Interaction with CRKL. 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) TACAAACTCCGCGATCTTCAC 0.517000 7 59 3.09899e-07 4.50568e-07 1 1 0 ATXN2 6311 broad.mit.edu 37 12 111902513 111902513 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:111902513G>A ENST00000377617.3 - 21 3484 c.3323C>T c.(3322-3324)cCc>cTc p.P1108L ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000542287.2_Missense_Mutation_p.P843L|ATXN2_ENST00000535949.1_Intron|ATXN2_ENST00000389153.4_Missense_Mutation_p.P845L NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 1108 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 TGGTAATTTGGGACATGCTGA 0.318000 17 123 0 0 1 0 0 CCDC178 374864 broad.mit.edu 37 18 30977163 30977163 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:30977163C>A ENST00000383096.3 - 4 250 c.68G>T c.(67-69)tGt>tTt p.C23F CCDC178_ENST00000402325.1_Missense_Mutation_p.C23F|CCDC178_ENST00000406524.2_Missense_Mutation_p.C23F|CCDC178_ENST00000579916.1_Missense_Mutation_p.C23F|CCDC178_ENST00000403303.1_Missense_Mutation_p.C23F|CCDC178_ENST00000583930.1_Missense_Mutation_p.C23F|CCDC178_ENST00000579947.1_Missense_Mutation_p.C23F|CCDC178_ENST00000300227.8_Missense_Mutation_p.C23F coiled-coil domain containing 178 TACTTCCTGACATGTTAAACC 0.333000 13 77 2.32078e-09 3.76969e-09 1 1 0 IGHMBP2 3508 broad.mit.edu 37 11 68707029 68707029 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:68707029G>T ENST00000255078.3 + 15 2923 c.2812G>T c.(2812-2814)Gcc>Tcc p.A938S NM_002180.2 NP_002171.2 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 938 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GAGGGCTCGCGCCCATGCCCG 0.637000 8 48 0.0381472 0.0400654 1 1 0 ZNF219 51222 broad.mit.edu 37 14 21561118 21561118 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:21561118C>A ENST00000360947.3 - 3 749 c.338G>T c.(337-339)cGt>cTt p.R113L ZNF219_ENST00000451119.2_Missense_Mutation_p.R113L|ZNF219_ENST00000421093.2_Missense_Mutation_p.R113L NM_016423.2 NP_057507.2 Q9P2Y4 ZN219_HUMAN zinc finger protein 219 113 negative regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2) 8 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08) GBM - Glioblastoma multiforme(265;0.0191) AGCAGGACTACGTGGGCGCTC 0.716000 OREG0022565 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 34 0.150653 0.154188 1 1 0 USH2A 7399 broad.mit.edu 37 1 216062173 216062173 + Silent SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:216062173T>C ENST00000366943.2 - 41 8204 c.7818A>G c.(7816-7818)aaA>aaG p.K2606K USH2A_ENST00000307340.3_Silent_p.K2606K|RP5-1111A8.3_ENST00000414995.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2606 Fibronectin type-III 12. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGGAACATCCTTTTGAAGTGC 0.478000 HNSCC(13;0.011) 24 95 0 0 1 0 0 GPI 2821 broad.mit.edu 37 19 34890690 34890690 + Splice_Site SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:34890690G>T ENST00000415930.3 + 17 1744 c.1574_splice c.e17+1 p.G525_splice GPI_ENST00000586425.1_Intron|GPI_ENST00000356487.5_Splice_Site_p.G514_splice NM_001184722.1 NP_001171651.1 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 514 I -> T (in HA-GPID). angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) GACCAGTGGGGGTGAGTTGCT 0.537000 13 38 1.05317e-09 1.73539e-09 1 1 0 LPHN2 23266 broad.mit.edu 37 1 82450967 82450967 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:82450967G>A ENST00000370728.1 + 23 4069 c.3424G>A c.(3424-3426)Gat>Aat p.D1142N LPHN2_ENST00000394879.1_Missense_Mutation_p.D1144N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D1157N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D1157N|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000335786.5_Missense_Mutation_p.D1142N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D1129N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D1157N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D1129N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D1067N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.D1144N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D1142N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D1157N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D1129N O95490 LPHN2_HUMAN latrophilin 2 1142 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.D1157Y(1)|p.D1129Y(1) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AATGTGGAATGATACTGTGAG 0.318000 18 67 0 0 1 0 0 AFP 174 broad.mit.edu 37 4 74304014 74304014 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:74304014A>T ENST00000395792.2 + 3 361 c.261A>T c.(259-261)ttA>ttT p.L87F AFP_ENST00000226359.2_Missense_Mutation_p.L87F NM_001134.1 NP_001125.1 P02771 FETA_HUMAN alpha-fetoprotein 87 Albumin 1. transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) cagggtgtttagaaaaccagg 0.348000 Alpha-Fetoprotein, Hereditary Persistence of 16 28 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22422626 22422626 + Silent SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:22422626T>A ENST00000334304.5 - 12 1961 c.1692A>T c.(1690-1692)gcA>gcT p.A564A GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Silent_p.A338A|GPR125_ENST00000502482.1_Silent_p.A564A NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 564 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) GATCAGAGGCTGCCACTTTCT 0.453000 26 237 0 0 1 0 0 ATP2B3 492 broad.mit.edu 37 X 152815552 152815552 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:152815552A>T ENST00000370186.1 + 10 1915 c.1589A>T c.(1588-1590)gAg>gTg p.E530V ATP2B3_ENST00000393842.1_Missense_Mutation_p.E530V|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E530V|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E544V|ATP2B3_ENST00000349466.2_Missense_Mutation_p.E544V|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E544V Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 544 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AATAAGACGGAGTGCGCCCTG 0.617000 5 41 0 0 1 0 0 LIN7A 8825 broad.mit.edu 37 12 81283137 81283137 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:81283137C>A ENST00000552864.1 - 2 296 c.94G>T c.(94-96)Gca>Tca p.A32S NM_004664.2 NP_004655.1 O14910 LIN7A_HUMAN lin-7 homolog A (C. elegans) 32 L27. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2) 15 AATTCAATTGCTCTTGCAACA 0.348000 6 20 8.12818e-05 9.91291e-05 1 1 0 ACSBG2 81616 broad.mit.edu 37 19 6183162 6183162 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:6183162C>A ENST00000588304.1 + 10 1497 c.1051C>A c.(1051-1053)Ctc>Atc p.L351I ACSBG2_ENST00000252669.5_Missense_Mutation_p.L401I|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588485.1_Missense_Mutation_p.L214I|ACSBG2_ENST00000591403.1_Missense_Mutation_p.L401I|ACSBG2_ENST00000586696.1_Missense_Mutation_p.L401I Q5FVE4 ACBG2_HUMAN acyl-CoA synthetase bubblegum family member 2 401 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GACTGCGCCCCTCAACCAAGA 0.517000 19 86 3.51602e-12 6.30502e-12 1 1 0 FAT3 120114 broad.mit.edu 37 11 92623757 92623757 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:92623757G>T ENST00000298047.6 + 27 13265 c.13248G>T c.(13246-13248)caG>caT p.Q4416H FAT3_ENST00000525166.1_Missense_Mutation_p.Q4266H|FAT3_ENST00000533797.1_Missense_Mutation_p.Q719H|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000409404.2_Missense_Mutation_p.Q4384H Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4416 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTGCACACCAGGGGAGCACAC 0.562000 TCGA Ovarian(4;0.039) 4 40 2.56e-06 3.47663e-06 1 1 0 TRIO 7204 broad.mit.edu 37 5 14291250 14291250 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:14291250G>T ENST00000344204.4 + 5 990 c.966G>T c.(964-966)cgG>cgT p.R322R TRIO_ENST00000509967.2_Silent_p.R273R|TRIO_ENST00000537187.1_Silent_p.R322R NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 322 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) ACTCGACACGGCAGCATCTGC 0.562000 13 64 1.05317e-09 1.73539e-09 1 1 0 EXOC3L1 283849 broad.mit.edu 37 16 67222801 67222801 + Missense_Mutation SNP A A C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:67222801A>C ENST00000314586.6 - 4 490 c.250T>G c.(250-252)Tgg>Ggg p.W84G EXOC3L1_ENST00000562887.1_Intron NM_178516.3 NP_848611.2 Q86VI1 EX3L1_HUMAN exocyst complex component 3-like 1 84 Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity). exocytosis|peptide hormone secretion exocyst|stored secretory granule|transport vesicle breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 21 GCCAGCTGCCACACACCAGTC 0.642000 5 44 0 0 1 0 0 ROR1 4919 broad.mit.edu 37 1 64624663 64624663 + Splice_Site SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:64624663G>T ENST00000371079.1 + 8 1549 c.e8-1 ROR1_ENST00000545203.1_Splice_Site|RP11-24J23.2_ENST00000424995.1_RNA NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 TCTGCACCCAGATTCAAAGGA 0.353000 12 78 0.00010058 0.000121664 1 1 0 LINC00482 284185 broad.mit.edu 37 17 79278868 79278868 + RNA SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:79278868C>T ENST00000332012.5 - 0 725 NR_038080.1 TGTCACCAGGCACCATCTGTC 0.652000 3 12 0 0 1 0 0 SNCA 6622 broad.mit.edu 37 4 90743487 90743487 + Silent SNP C C A rs144758871 byFrequency TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:90743487C>A ENST00000394989.2 - 3 436 c.174G>T c.(172-174)acG>acT p.T58T SNCA_ENST00000505199.1_Silent_p.T58T|SNCA_ENST00000502987.1_Silent_p.T72T|SNCA_ENST00000508895.1_Silent_p.T72T|SNCA_ENST00000336904.3_Silent_p.T72T|SNCA_ENST00000345009.4_Silent_p.T72T|SNCA_ENST00000394986.1_Silent_p.T72T|SNCA_ENST00000420646.2_Silent_p.T72T|SNCA_ENST00000394991.3_Silent_p.T72T|SNCA_ENST00000506244.1_Silent_p.T72T P37840 SYUA_HUMAN synuclein, alpha (non A4 component of amyloid precursor) 72 4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4). activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(4)|ovary(1) 8 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.42e-05) Melatonin(DB01065) CTGTCACACCCGTCACCACTG 0.498000 8 51 1.12685e-05 1.46718e-05 1 1 0 CACNA1C 775 broad.mit.edu 37 12 2717774 2717774 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:2717774A>G ENST00000399655.1 + 27 3719 c.3454A>G c.(3454-3456)Atc>Gtc p.I1152V CACNA1C_ENST00000399595.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399621.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.I1172V|CACNA1C_ENST00000480911.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.I1152V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000327702.7_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000347598.4_Missense_Mutation_p.I1172V|CACNA1C_ENST00000335762.5_Missense_Mutation_p.I1177V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.I1152V NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1172 Dihydropyridine binding (By similarity). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) ctacatcatcatcatcgcctt 0.517000 6 22 0 0 1 0 0 PODXL2 50512 broad.mit.edu 37 3 127379422 127379422 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:127379422A>G ENST00000342480.6 + 3 590 c.551A>G c.(550-552)gAg>gGg p.E184G NM_015720.2 NP_056535.1 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 184 Glu-rich. leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 26 caagaggaggaggaagaggag 0.572000 10 90 0 0 1 0 0 STON2 85439 broad.mit.edu 37 14 81743497 81743497 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:81743497G>A ENST00000555447.1 - 6 2570 c.2158C>T c.(2158-2160)Ctc>Ttc p.L720F STON2_ENST00000267540.2_Missense_Mutation_p.L720F NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 720 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) ACCTGAGTGAGGGGGTCACGA 0.557000 13 141 0 0 1 0 0 ATP8A2 51761 broad.mit.edu 37 13 26273433 26273433 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr13:26273433G>A ENST00000381655.2 + 25 2476 c.2334G>A c.(2332-2334)cgG>cgA p.R778R ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Silent_p.R738R NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 738 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TCGAAGTCCGGAGGAGTTTCC 0.547000 6 37 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114298197 114298197 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:114298197C>T ENST00000408937.3 + 12 1792 c.1418C>T c.(1417-1419)aCc>aTc p.T473I FOXP2_ENST00000393491.3_Intron|FOXP2_ENST00000393489.3_Missense_Mutation_p.T356I|FOXP2_ENST00000393494.2_Missense_Mutation_p.T448I|FOXP2_ENST00000350908.4_Missense_Mutation_p.T448I|FOXP2_ENST00000403559.4_Missense_Mutation_p.T465I|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393498.2_Missense_Mutation_p.T427I NM_001172766.2|NM_014491.3|NM_148898.3 NP_001166237.1|NP_055306.1|NP_683696.2 O15409 FOXP2_HUMAN forkhead box P2 448 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning 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(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 CAAACCCCTACCACACCAACG 0.547000 16 89 0 0 1 0 0 C15orf26 161502 broad.mit.edu 37 15 81440790 81440790 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:81440790C>A ENST00000286732.4 + 7 905 c.822C>A c.(820-822)gcC>gcA p.A274A NM_173528.2 NP_775799.2 Q6P656 CO026_HUMAN chromosome 15 open reading frame 26 274 endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1) 17 CCAGGGATGCCTCGTCCTCCA 0.552000 22 104 7.41877e-09 1.17795e-08 1 1 0 TRBJ2-6 28623 broad.mit.edu 37 7 142494944 142494944 + RNA SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:142494944T>A ENST00000390418.1 + 0 22 ACGTCCTGACTTTCGGGGCCG 0.731000 6 30 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86200608 86200608 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:86200608G>A ENST00000370571.2 - 59 5188 c.4822C>T c.(4822-4824)Cat>Tat p.H1608Y COL24A1_ENST00000436319.1_Missense_Mutation_p.H1587Y NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 1608 Fibrillar collagen NC1. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) CTCAGTAAATGAAGGAAGTTC 0.428000 14 65 0 0 1 0 0 SLC36A3 285641 broad.mit.edu 37 5 150666833 150666833 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:150666833C>T ENST00000335230.3 - 6 1093 c.682G>A c.(682-684)Gct>Act p.A228T SLC36A3_ENST00000377713.3_Missense_Mutation_p.A269T NM_181774.3 NP_861439.3 Q495N2 S36A3_HUMAN solute carrier family 36, member 3 228 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 21 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGATCAGAGCCATGCTCCCA 0.507000 12 84 0 0 1 0 0 ENSA 2029 broad.mit.edu 37 1 150600004 150600004 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:150600004T>A ENST00000271690.8 - 2 228 c.122A>T c.(121-123)tAc>tTc p.Y41F ENSA_ENST00000369009.3_Missense_Mutation_p.Y41F|ENSA_ENST00000369014.5_Missense_Mutation_p.Y41F|ENSA_ENST00000361631.5_Missense_Mutation_p.Y37F|ENSA_ENST00000362052.7_Missense_Mutation_p.Y41F|ENSA_ENST00000356527.5_Missense_Mutation_p.Y41F|ENSA_ENST00000339643.5_Missense_Mutation_p.Y41F|ENSA_ENST00000361532.5_Missense_Mutation_p.Y37F|ENSA_ENST00000513281.1_Missense_Mutation_p.Y37F|ENSA_ENST00000369016.4_Missense_Mutation_p.Y41F|ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000503241.1_Missense_Mutation_p.Y41F|ENSA_ENST00000503345.1_Missense_Mutation_p.Y41F NM_207044.1 NP_996927.1 O43768 ENSA_HUMAN endosulfine alpha 41 cell division|G2/M transition of mitotic cell cycle|mitosis|response to nutrient|transport cytoplasm ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(1) 4 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171) TAGGCTTGGGTATTTGGCCTT 0.468000 13 106 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136582546 136582546 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:136582546C>A ENST00000531224.1 - 12 2866 c.2614G>T c.(2614-2616)Ggc>Tgc p.G872C BCLAF1_ENST00000031135.9_Missense_Mutation_p.G90C|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G821C|BCLAF1_ENST00000527759.1_Missense_Mutation_p.G870C|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G823C|BCLAF1_ENST00000530767.1_Missense_Mutation_p.G699C|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G821C NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 872 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) CGCCCTCTGCCACGTTGAAAA 0.423000 20 352 7.45023e-12 1.3232e-11 1 1 0 ZNF800 168850 broad.mit.edu 37 7 127014562 127014562 + Silent SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:127014562T>A ENST00000393313.1 - 5 1419 c.828A>T c.(826-828)ggA>ggT p.G276G ZNF800_ENST00000265827.3_Silent_p.G276G|ZNF800_ENST00000393312.1_Silent_p.G276G Q2TB10 ZN800_HUMAN zinc finger protein 800 276 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 TCTTACTGCGTCCTTTAGAGG 0.373000 12 119 0 0 1 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39171395 39171395 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:39171395G>T ENST00000297668.6 - 8 1377 c.1304C>A c.(1303-1305)cCg>cAg p.P435Q CNTNAP3_ENST00000377659.1_Missense_Mutation_p.P435Q|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.P435Q|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.P435Q|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.P347Q NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 435 Laminin G-like 2. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TGACTGTCCCGGCTGGAAGAG 0.468000 22 133 3.10358e-05 3.93722e-05 1 1 0 SSPO 23145 broad.mit.edu 37 7 149517985 149517985 + RNA SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:149517985G>T ENST00000378016.2 + 0 12328 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCAGGATGGTGGCTGCGTGCC 0.657000 6 21 0.00116845 0.00133498 1 1 0 TRBV19 28568 broad.mit.edu 37 7 142326467 142326467 + RNA SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:142326467T>C ENST00000390393.3 + 0 105 ttccaGCCTCTGACAAACTCT 0.512000 4 11 0 0 1 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141151 143141151 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:143141151G>C ENST00000332690.1 + 1 606 c.606G>C c.(604-606)tgG>tgC p.W202C EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 202 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) TGATTACTTGGACAATGCCCA 0.428000 20 152 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42170695 42170695 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:42170695C>A ENST00000320955.6 - 17 3542 c.3315G>T c.(3313-3315)caG>caT p.Q1105H NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1105 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) GCAGGAAGCTCTGCCGGGCCT 0.632000 3 24 0.00024832 0.000296266 1 1 0 FAT4 79633 broad.mit.edu 37 4 126389833 126389833 + Silent SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:126389833G>C ENST00000394329.3 + 11 12079 c.12066G>C c.(12064-12066)cgG>cgC p.R4022R FAT4_ENST00000335110.5_Silent_p.R2285R NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4022 Laminin G-like 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R4022R(1)|p.R3987R(1) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CAGGCGACCGGGCTGAGTTTT 0.408000 14 66 0 0 1 0 0 WDR45 11152 broad.mit.edu 37 X 48934359 48934359 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:48934359C>A ENST00000356463.3 - 6 727 c.289G>T c.(289-291)Gtg>Ttg p.V97L WDR45_ENST00000322995.8_Missense_Mutation_p.V96L|WDR45_ENST00000473974.1_Missense_Mutation_p.V96L|WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000376372.3_Missense_Mutation_p.V96L|WDR45_ENST00000485908.1_Missense_Mutation_p.V61L|WDR45_ENST00000376358.3_Intron|WDR45_ENST00000376368.2_Missense_Mutation_p.V97L|WDR45_ENST00000396681.4_Missense_Mutation_p.V96L|WDR45_ENST00000553851.1_Intron NM_007075.3 NP_009006.2 Q9Y484 WIPI4_HUMAN WD repeat domain 45 96 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 19 AACTCCAGCACCAGCTTCTCC 0.627000 5 27 0.014758 0.0158251 1 1 0 PTPLAD2 401494 broad.mit.edu 37 9 21026606 21026606 + Silent SNP T T G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:21026606T>G ENST00000495827.1 - 3 304 c.259A>C c.(259-261)Agg>Cgg p.R87R PTPLAD2_ENST00000513293.2_Silent_p.R87R|PTPLAD2_ENST00000488436.1_5'UTR NM_001010915.3 NP_001010915.2 Q5VWC8 HACD4_HUMAN protein tyrosine phosphatase-like A domain containing 2 87 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane lyase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10) TGCAAAAACCTTGGGAGAAGA 0.358000 10 96 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11049598 11049598 + RNA SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr21:11049598C>A ENST00000470054.1 - 0 510 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) CTGTCGCACACTGCACAGTTT 0.373000 9 198 2.68362e-12 4.85342e-12 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168107822 168107822 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:168107822A>T ENST00000409195.1 + 9 10009 c.9920A>T c.(9919-9921)gAg>gTg p.E3307V XIRP2_ENST00000409273.1_Missense_Mutation_p.E3085V|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E3307V|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3132 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CGCCTGTCAGAGCACACACAG 0.443000 21 126 0 0 1 0 0 ZNHIT6 54680 broad.mit.edu 37 1 86173681 86173681 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:86173681C>A ENST00000370574.3 - 1 420 c.287G>T c.(286-288)tGg>tTg p.W96L ZNHIT6_ENST00000431532.2_Intron Q9NWK9 BCD1_HUMAN zinc finger, HIT-type containing 6 96 Glu-rich. box C/D snoRNP assembly|ribosome biogenesis pre-snoRNP complex identical protein binding|metal ion binding autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1) 17 CTGTTCTACCCACTGGCCAGC 0.512000 13 81 0.00010058 0.000121664 1 1 0 C1orf210 149466 broad.mit.edu 37 1 43748659 43748659 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:43748659G>A ENST00000523677.1 - 3 372 c.139C>T c.(139-141)Ctc>Ttc p.L47F C1orf210_ENST00000423420.1_Missense_Mutation_p.L47F NM_001164829.1|NM_182517.2 NP_001158301.1|NP_872323.1 Q8IVY1 CA210_HUMAN chromosome 1 open reading frame 210 47 integral to membrane breast(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AGTGCAATGAGGAGCGAGAGG 0.667000 8 29 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 71016204 71016204 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:71016204G>A ENST00000334414.6 - 3 718 c.674C>T c.(673-675)tCg>tTg p.S225L PTPRB_ENST00000551525.1_Missense_Mutation_p.S224L|PTPRB_ENST00000550358.1_Missense_Mutation_p.S225L|PTPRB_ENST00000538174.2_5'UTR NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 Fibronectin type-III 3. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CTGAGTAGTCGACAAAACCCA 0.498000 9 76 0 0 1 0 0 ZFP82 284406 broad.mit.edu 37 19 36884694 36884694 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:36884694T>A ENST00000392161.3 - 5 790 c.548A>T c.(547-549)cAa>cTa p.Q183L ZFP82_ENST00000392171.1_Missense_Mutation_p.Q183L NM_133466.2 NP_597723.1 Q8N141 ZFP82_HUMAN ZFP82 zinc finger protein 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AGTAAGCTGTTGGCGCACTCT 0.428000 11 50 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38645457 38645457 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:38645457C>A ENST00000413689.1 - 12 1829 c.1636G>T c.(1636-1638)Gat>Tat p.D546Y SCN5A_ENST00000414099.2_Missense_Mutation_p.D546Y|SCN5A_ENST00000455624.2_Missense_Mutation_p.D546Y|SCN5A_ENST00000451551.2_Missense_Mutation_p.D546Y|SCN5A_ENST00000333535.4_Missense_Mutation_p.D546Y|SCN5A_ENST00000450102.2_Missense_Mutation_p.D546Y|SCN5A_ENST00000449557.2_Missense_Mutation_p.D546Y|SCN5A_ENST00000443581.1_Missense_Mutation_p.D546Y|SCN5A_ENST00000425664.1_Missense_Mutation_p.D546Y|SCN5A_ENST00000423572.2_Missense_Mutation_p.D546Y NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 546 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) CTGTTTTCATCATCTGCAAAA 0.622000 4 35 0.184627 0.187793 1 1 0 IFFO1 25900 broad.mit.edu 37 12 6657972 6657972 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:6657972C>T ENST00000436152.2 - 7 738 c.179G>A c.(178-180)cGg>cAg p.R60Q IFFO1_ENST00000336604.4_Missense_Mutation_p.R367Q|IFFO1_ENST00000465801.1_Missense_Mutation_p.R60Q|IFFO1_ENST00000356896.4_Missense_Mutation_p.R367Q|IFFO1_ENST00000396840.2_Missense_Mutation_p.R364Q Q0D2I5 IFFO1_HUMAN intermediate filament family orphan 1 364 intermediate filament central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 20 CTCCCGCTTCCGCCCCCCCAT 0.677000 5 15 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61566417 61566417 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:61566417C>A ENST00000577647.1 + 6 888 c.843C>A c.(841-843)taC>taA p.Y281* ACE_ENST00000290863.6_Nonsense_Mutation_p.Y281*|ACE_ENST00000290866.4_Nonsense_Mutation_p.Y855*|ACE_ENST00000490216.2_Nonsense_Mutation_p.Y281*|ACE_ENST00000428043.1_Nonsense_Mutation_p.Y855*|ACE_ENST00000421982.2_Intron|ACE_ENST00000413513.3_Nonsense_Mutation_p.Y281* P12821 ACE_HUMAN angiotensin I converting enzyme 855 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) TGCATGCCTACGTGCGCCGGG 0.632000 15 45 1.15088e-07 1.71878e-07 1 1 0 GABRA6 2559 broad.mit.edu 37 5 161119046 161119046 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:161119046T>A ENST00000523217.1 + 8 1138 c.896T>A c.(895-897)gTt>gAt p.V299D GABRA6_ENST00000274545.5_Missense_Mutation_p.V309D NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 309 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTCATAGCTGTTTGCTTTGCA 0.468000 TCGA Ovarian(5;0.080) 21 120 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140579691 140579691 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:140579691A>T ENST00000354757.3 + 1 344 c.344A>T c.(343-345)cAg>cTg p.Q115L PCDHB11_ENST00000536699.1_Intron NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 115 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AACCCCACGCAGTTTTTACAA 0.463000 30 199 0 0 1 0 0 STX7 8417 broad.mit.edu 37 6 132781941 132781941 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:132781941C>A ENST00000367941.2 - 10 855 c.742G>T c.(742-744)Gga>Tga p.G248* NM_003569.2 NP_003560.2 O15400 STX7_HUMAN syntaxin 7 248 intracellular protein transport|post-Golgi vesicle-mediated transport early endosome membrane|integral to membrane SNAP receptor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5) 19 Breast(56;0.0615) OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114) ATCGCAACTCCAATGACAAGG 0.373000 7 87 0.000157383 0.000189601 1 1 0 KIF14 9928 broad.mit.edu 37 1 200567484 200567484 + Silent SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:200567484T>C ENST00000367350.4 - 14 2868 c.2430A>G c.(2428-2430)ccA>ccG p.P810P NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 810 microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 CAGATAGTTGTGGATCTTCAT 0.338000 9 90 0 0 1 0 0 FMN1 342184 broad.mit.edu 37 15 33261646 33261646 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:33261646C>A ENST00000334528.9 - 4 1586 c.1587G>T c.(1585-1587)cgG>cgT p.R529R FMN1_ENST00000561249.1_Silent_p.R654R|FMN1_ENST00000559047.1_Silent_p.R752R NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 752 Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CATGCTCGCCCCGGATATGAA 0.403000 24 110 1.22574e-08 1.93999e-08 1 1 0 OR10H4 126541 broad.mit.edu 37 19 16060028 16060028 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:16060028G>A ENST00000322107.1 + 1 211 c.211G>A c.(211-213)Gag>Aag p.E71K NM_001004465.1 NP_001004465.1 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, member 4 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 CTCCGTCTCTGAGATTCTGTT 0.507000 80 301 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179466615 179466615 + Silent SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:179466615A>G ENST00000589042.1 - 285 55520 c.55296T>C c.(55294-55296)gaT>gaC p.D18432D TTN_ENST00000342175.6_Silent_p.D9559D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Silent_p.D16791D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.D15864D|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.D9492D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.D9367D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16791 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ttaCCTGTGCATCTTCGGGTA 0.308000 11 55 0 0 1 0 0 SIRPD 128646 broad.mit.edu 37 20 1532543 1532543 + Missense_Mutation SNP C C T rs139039354 byFrequency TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:1532543C>T ENST00000381623.3 - 2 1404 c.215G>A c.(214-216)cGg>cAg p.R72Q SIRPD_ENST00000381621.1_Missense_Mutation_p.R72Q Q9H106 SIRPD_HUMAN signal-regulatory protein delta 72 Ig-like V-type. extracellular region p.R72Q(1) breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1) 15 GATTAATTTCCGGTTTGGCCC 0.463000 10 89 0 0 1 0 0 CPA3 1359 broad.mit.edu 37 3 148600343 148600343 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:148600343G>C ENST00000296046.3 + 8 791 c.739G>C c.(739-741)Ggc>Cgc p.G247R RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 247 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) CAAATGCATCGGCACTGACCT 0.388000 8 44 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196715021 196715021 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:196715021G>A ENST00000367429.4 + 21 3625 c.3385G>A c.(3385-3387)Gct>Act p.A1129T NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 1129 Sushi 19. 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 GTCAGTATATGCTCCAGCTTC 0.413000 24 179 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179580319 179580319 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:179580319C>G ENST00000589042.1 - 89 26046 c.25822G>C c.(25822-25824)Gaa>Caa p.E8608Q TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E8291Q|TTN_ENST00000342992.6_Missense_Mutation_p.E7364Q|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8291 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGTGCATTTCCAGCACAGCC 0.458000 11 46 0 0 1 0 0 RSAD2 91543 broad.mit.edu 37 2 7018185 7018185 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:7018185A>G ENST00000382040.3 + 1 390 c.254A>G c.(253-255)tAc>tGc p.Y85C NM_080657.4 NP_542388.2 Q8WXG1 RSAD2_HUMAN radical S-adenosyl methionine domain containing 2 85 defense response to virus endoplasmic reticulum membrane|Golgi apparatus catalytic activity|iron-sulfur cluster binding|metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1) 20 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) OV - Ovarian serous cystadenocarcinoma(76;0.191) CAGTGCAACTACAAATGCGGC 0.527000 8 84 0 0 1 0 0 OTOP1 133060 broad.mit.edu 37 4 4199434 4199434 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:4199434T>A ENST00000296358.4 - 5 1151 c.1127A>T c.(1126-1128)gAg>gTg p.E376V NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 376 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) CAGTGACTTCTCGTCTATCCT 0.572000 17 75 0 0 1 0 0 SLU7 10569 broad.mit.edu 37 5 159839521 159839521 + Silent SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:159839521T>C ENST00000297151.4 - 6 963 c.576A>G c.(574-576)aaA>aaG p.K192K NM_006425.4 NP_006416.3 O95391 SLU7_HUMAN SLU7 splicing factor homolog (S. cerevisiae) 192 alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1) 20 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCAATGTTCGTTTTGCCTTTa 0.269000 4 44 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179478579 179478579 + Silent SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:179478579A>G ENST00000589042.1 - 263 49655 c.49431T>C c.(49429-49431)gaT>gaC p.D16477D TTN_ENST00000342175.6_Silent_p.D7604D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Silent_p.D14836D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.D13909D|TTN_ENST00000359218.5_Silent_p.D7537D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.D7412D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14836 Fibronectin type-III 19. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGCTGCCACCATCATCATCTG 0.453000 26 140 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6985289 6985289 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:6985289G>A ENST00000389658.3 - 39 5700 c.5607C>T c.(5605-5607)taC>taT p.Y1869Y NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1869 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCTCAGCTCTGTAGACCAGGT 0.493000 24 170 0 0 1 0 0 CCDC40 55036 broad.mit.edu 37 17 78071180 78071180 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:78071180G>T ENST00000397545.4 + 19 3185 c.3158G>T c.(3157-3159)cGg>cTg p.R1053L NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 1053 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) GACCTCACCCGGCTTGGGGCC 0.577000 9 40 0.000442599 0.000519695 1 1 0 ZNF536 9745 broad.mit.edu 37 19 30934792 30934792 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:30934792G>T ENST00000355537.3 + 2 470 c.323G>T c.(322-324)gGg>gTg p.G108V NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 108 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TTCCTCAACGGGCAGAACCTG 0.647000 3 29 0.115264 0.119286 1 1 0 IL22 50616 broad.mit.edu 37 12 68646305 68646305 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:68646305G>T ENST00000538666.1 - 4 445 c.375C>A c.(373-375)ctC>ctA p.L125L IL22_ENST00000328087.4_Silent_p.L125L Q9GZX6 IL22_HUMAN interleukin 22 125 acute-phase response extracellular space cytokine activity|interleukin-22 receptor binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 14 Myeloproliferative disorder(1001;0.0255) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104) GCCTGTTGCTGAGCCTGGCCA 0.542000 9 65 1.12685e-05 1.46718e-05 1 1 0 COL14A1 7373 broad.mit.edu 37 8 121309824 121309824 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:121309824C>A ENST00000297848.3 + 35 4581 c.4311C>A c.(4309-4311)ggC>ggA p.G1437G COL14A1_ENST00000309791.4_Silent_p.G1437G|COL14A1_ENST00000247781.3_Silent_p.G1342G NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1437 Nonhelical region (NC4). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging p.G1437G(1) NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AACTTCCAGGCCTGGTAAGAA 0.323000 4 37 0.0215528 0.0228632 1 1 0 CCT4 10575 broad.mit.edu 37 2 62107478 62107478 + Missense_Mutation SNP A A C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:62107478A>C ENST00000394440.3 - 4 618 c.322T>G c.(322-324)Tca>Gca p.S108A AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544185.1_Intron|CCT4_ENST00000538252.1_Missense_Mutation_p.S52A|CCT4_ENST00000544079.1_Missense_Mutation_p.S78A NM_006430.3 NP_006421.2 P50991 TCPD_HUMAN chaperonin containing TCP1, subunit 4 (delta) 108 'de novo' posttranslational protein folding melanosome|microtubule organizing center|nucleus ATP binding|unfolded protein binding breast(1)|large_intestine(2)|lung(6)|ovary(2) 11 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221) ATGACTACTGATGTGGTGCCA 0.413000 9 163 0 0 1 0 0 CBS 875 broad.mit.edu 37 21 44485371 44485371 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr21:44485371G>A ENST00000398165.3 - 8 937 c.678C>T c.(676-678)gcC>gcT p.A226A CBS_ENST00000359624.3_Silent_p.A226A|CBS_ENST00000398158.1_Silent_p.A226A|CBS_ENST00000544202.1_Silent_p.A138A|CBS_ENST00000352178.5_Silent_p.A226A|CBS_ENST00000398168.1_Silent_p.A226A NM_000071.2 NP_000062.1 P35520 CBS_HUMAN cystathionine-beta-synthase 226 A -> T (in CBSD; presents 20% of the wild-type activity; dramatically reduced capacity to form multimeric quaternary structure). cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process cytosol|nucleolus cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8) 17 L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118) GGGGGTTGCTGGCGTTGCGGT 0.587000 5 30 0 0 1 0 0 MYL2 4633 broad.mit.edu 37 12 111352081 111352081 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:111352081C>A ENST00000228841.8 - 4 230 c.183G>T c.(181-183)gtG>gtT p.V61V MYL2_ENST00000548438.1_Silent_p.V47V NM_000432.3 NP_000423.2 P10916 MLRV_HUMAN myosin, light chain 2, regulatory, cardiac, slow 61 cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis cytosol|myosin complex|sarcomere actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1) 12 CTTCATTTTTCACGTTCACTC 0.473000 7 42 0.248553 0.251606 1 1 0 CHST10 9486 broad.mit.edu 37 2 101010155 101010155 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:101010155C>A ENST00000264249.3 - 7 1008 c.623G>T c.(622-624)cGg>cTg p.R208L CHST10_ENST00000542617.1_Missense_Mutation_p.R256L|CHST10_ENST00000409701.1_Missense_Mutation_p.R208L NM_004854.4 NP_004845.1 O43529 CHSTA_HUMAN carbohydrate sulfotransferase 10 208 carbohydrate biosynthetic process|cell adhesion Golgi membrane|integral to membrane|membrane fraction breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1) 16 AGGCTCAAACCGGGGATTGTG 0.408000 19 120 5.03518e-11 8.76429e-11 1 1 0 TBCE 6905 broad.mit.edu 37 1 235582795 235582795 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:235582795A>T ENST00000543662.1 + 5 485 c.379A>T c.(379-381)Agc>Tgc p.S127C TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000366601.3_Missense_Mutation_p.S127C|TBCE_ENST00000406207.1_Missense_Mutation_p.S127C Q15813 TBCE_HUMAN tubulin folding cofactor E 127 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) CAGTCAGCTGAGCAAGTTGCA 0.413000 10 105 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137990559 137990559 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:137990559C>A ENST00000409968.1 + 9 2184 c.2006C>A c.(2005-2007)cCt>cAt p.P669H THSD7B_ENST00000413152.2_Missense_Mutation_p.P638H|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.P669H thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GAGACATCGCCTTGGGGCCCT 0.517000 12 53 0.00010058 0.000121664 1 1 0 BPTF 2186 broad.mit.edu 37 17 65850086 65850086 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:65850086G>A ENST00000321892.4 + 2 705 c.644G>A c.(643-645)cGt>cAt p.R215H BPTF_ENST00000424123.3_Missense_Mutation_p.R76H|BPTF_ENST00000306378.6_Missense_Mutation_p.R215H|BPTF_ENST00000335221.5_Missense_Mutation_p.R215H Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 215 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CATCGGCCTCGTTCTCCTATA 0.388000 26 161 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53726226 53726226 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:53726226C>A ENST00000262135.4 - 4 374 c.281G>T c.(280-282)cGg>cTg p.R94L RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R94L|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R94L|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.R94L NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 94 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding p.R94L(1) endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) GCCACCAACCCGCTCATATCT 0.418000 16 207 1.5739e-10 2.69525e-10 1 1 0 UNC79 57578 broad.mit.edu 37 14 94088734 94088734 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:94088734G>T ENST00000553484.1 + 31 5375 c.5221G>T c.(5221-5223)Gac>Tac p.D1741Y UNC79_ENST00000256339.4_Missense_Mutation_p.D1542Y|UNC79_ENST00000393151.2_Missense_Mutation_p.D1719Y|UNC79_ENST00000555664.1_Missense_Mutation_p.D1719Y Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1719 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CACTCTGGAAGACCCTATGGA 0.502000 16 103 6.31663e-08 9.6374e-08 1 1 0 NRCAM 4897 broad.mit.edu 37 7 107866784 107866784 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:107866784C>T ENST00000379028.3 - 9 1059 c.589G>A c.(589-591)Ggt>Agt p.G197S NRCAM_ENST00000351718.4_Missense_Mutation_p.G191S|NRCAM_ENST00000379024.4_Missense_Mutation_p.G197S|NRCAM_ENST00000425651.2_Missense_Mutation_p.G197S|NRCAM_ENST00000413765.2_Missense_Mutation_p.G197S|NRCAM_ENST00000379022.4_Missense_Mutation_p.G197S Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 197 Ig-like 2. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 CCATTCAAACCTTGAGAAACT 0.408000 47 87 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103544254 103544254 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:103544254C>A ENST00000358392.2 - 3 765 c.448G>T c.(448-450)Gac>Tac p.D150Y COL11A1_ENST00000512756.1_Missense_Mutation_p.D150Y|COL11A1_ENST00000370096.3_Missense_Mutation_p.D150Y|COL11A1_ENST00000353414.4_Missense_Mutation_p.D150Y NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 150 TSP N-terminal. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AGGGGATAGTCTTCTGGGGCA 0.373000 10 71 0.010729 0.0116225 1 1 0 IQCG 84223 broad.mit.edu 37 3 197665601 197665601 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:197665601C>A ENST00000265239.6 - 5 757 c.333G>T c.(331-333)atG>atT p.M111I IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Missense_Mutation_p.M111I|IQCG_ENST00000453254.1_Missense_Mutation_p.M111I NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 111 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) TTGTTGAGGCCATTGGAAGTT 0.368000 13 352 2.32078e-09 3.76969e-09 1 1 0 ZNF99 7652 broad.mit.edu 37 19 22940999 22940999 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:22940999C>A ENST00000397104.3 - 5 1438 c.1439G>T c.(1438-1440)gGc>gTc p.G480V ZNF99_ENST00000596209.1_Missense_Mutation_p.G571V zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AAAAGCTTTGCCACATTCTTC 0.353000 10 48 1.58986e-06 2.19736e-06 1 1 0 HS6ST1 9394 broad.mit.edu 37 2 129075886 129075886 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:129075886C>A ENST00000259241.6 - 1 265 c.252G>T c.(250-252)aaG>aaT p.K84N HS6ST1_ENST00000494089.1_5'UTR NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 84 heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) CGTCGTCGCCCTTCATGTCGA 0.647000 3 26 0.00909568 0.00987474 1 1 0 OAS2 4939 broad.mit.edu 37 12 113445588 113445588 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:113445588C>A ENST00000392583.2 + 9 1942 c.1735C>A c.(1735-1737)Cag>Aag p.Q579K RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Missense_Mutation_p.Q579K NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 579 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 TGCCTGGGAGCAGGGGAGTGG 0.522000 11 121 0.00010058 0.000121664 1 1 0 EPB41L3 23136 broad.mit.edu 37 18 5478250 5478250 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:5478250C>G ENST00000341928.2 - 3 711 c.371G>C c.(370-372)tGt>tCt p.C124S RP11-286N3.1_ENST00000577527.1_RNA|EPB41L3_ENST00000544123.1_Missense_Mutation_p.C124S|EPB41L3_ENST00000540638.2_Missense_Mutation_p.C124S|EPB41L3_ENST00000400111.3_Missense_Mutation_p.C124S|EPB41L3_ENST00000342933.3_Missense_Mutation_p.C124S NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 124 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 CTCTACATCACAGGTATATTC 0.373000 10 87 0 0 1 0 0 FAM213A 84293 broad.mit.edu 37 10 82182201 82182201 + Silent SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:82182201A>T ENST00000372181.1 + 2 677 c.207A>T c.(205-207)ctA>ctT p.L69L FAM213A_ENST00000372187.5_Silent_p.L69L|FAM213A_ENST00000372188.1_Silent_p.L69L|FAM213A_ENST00000372185.1_Silent_p.L58L NM_001243778.1|NM_001243782.1 NP_001230707.1|NP_001230711.1 Q9BRX8 CJ058_HUMAN family with sequence similarity 213, member A 69 extracellular region CAAAGGAGCTATGGGAAAAAA 0.478000 11 46 0 0 1 0 0 WNT3A 89780 broad.mit.edu 37 1 228210445 228210445 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:228210445C>A ENST00000284523.1 + 2 227 c.149C>A c.(148-150)cCc>cAc p.P50H WNT3A_ENST00000366753.2_Missense_Mutation_p.P50H NM_033131.3 NP_149122.1 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 50 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) GGCCTGGTCCCCAAGCAGCTC 0.647000 6 55 0.0215528 0.0228632 1 1 0 ADAMTSL1 92949 broad.mit.edu 37 9 18474251 18474251 + Silent SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:18474251A>T ENST00000380548.4 + 1 360 c.21A>T c.(19-21)gcA>gcT p.A7A ADAMTSL1_ENST00000276935.6_Silent_p.A7A|ADAMTSL1_ENST00000380570.4_Silent_p.A7A|ADAMTSL1_ENST00000327883.7_Silent_p.A7A|ADAMTSL1_ENST00000431052.2_Silent_p.A7A|ADAMTSL1_ENST00000380566.4_Silent_p.A7A NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 7 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GCCGTCGGGCAACTCCTGGCA 0.512000 14 105 0 0 1 0 0 NID1 4811 broad.mit.edu 37 1 236195948 236195948 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:236195948G>T ENST00000264187.6 - 6 1372 c.1290C>A c.(1288-1290)tcC>tcA p.S430S NID1_ENST00000366595.3_Silent_p.S430S NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 430 Nidogen G2 beta-barrel. cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CTCGCTGGGGGGAACCTGAGC 0.453000 4 65 1.23904e-05 1.602e-05 1 1 0 MYEF2 50804 broad.mit.edu 37 15 48458325 48458325 + Splice_Site SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:48458325C>A ENST00000324324.7 - 4 703 c.423_splice c.e4-1 p.G142_splice MYEF2_ENST00000267836.6_Splice_Site_p.G142_splice NM_016132.3 NP_057216.2 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 142 RRM 1. transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) TACCCACAACCCTATATCCAG 0.254000 10 64 7.48243e-07 1.05882e-06 1 1 0 ARID3C 138715 broad.mit.edu 37 9 34627741 34627741 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:34627741G>A ENST00000378909.2 - 1 363 c.271C>T c.(271-273)Cct>Tct p.P91S NM_001017363.1 NP_001017363.1 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT-like) 91 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 14 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) TGGAGTCCAGGGGGCTGGCTA 0.627000 5 52 0 0 1 0 0 TRIM54 57159 broad.mit.edu 37 2 27505742 27505742 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:27505742G>T ENST00000296098.4 + 1 413 c.143G>T c.(142-144)cGc>cTc p.R48L TRIM54_ENST00000380075.2_Missense_Mutation_p.R48L NM_032546.3 NP_115935.3 Q9BYV2 TRI54_HUMAN tripartite motif containing 54 48 cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding p.R32H(1) cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AACCTGTGCCGCAAATGTGCC 0.587000 46 212 1.65492e-34 3.43731e-34 1 1 0 TRRAP 8295 broad.mit.edu 37 7 98522798 98522798 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:98522798G>T ENST00000359863.4 + 22 3096 c.2887G>T c.(2887-2889)Gcg>Tcg p.A963S TRRAP_ENST00000446306.3_Missense_Mutation_p.A962S|TRRAP_ENST00000355540.3_Missense_Mutation_p.A963S NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 963 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CCGGAGGCAGGCGTGGGAAGT 0.542000 25 72 1.55469e-16 3.02574e-16 1 1 0 ADH1B 125 broad.mit.edu 37 4 100235173 100235173 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:100235173G>A ENST00000305046.8 - 6 700 c.633C>T c.(631-633)ggC>ggT p.G211G ADH1B_ENST00000394887.3_Silent_p.G171G P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 211 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) CTGCTTTACAGCCCATAACAG 0.498000 54 247 0 0 1 0 0 SLC4A2 6522 broad.mit.edu 37 7 150767561 150767561 + Silent SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:150767561A>T ENST00000485713.1 + 11 2507 c.1467A>T c.(1465-1467)ccA>ccT p.P489P SLC4A2_ENST00000413384.2_Silent_p.P489P|SLC4A2_ENST00000392826.2_Silent_p.P480P|SLC4A2_ENST00000461735.1_Silent_p.P475P|SLC4A2_ENST00000310317.5_Silent_p.P407P NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 489 bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGCCGCCTCCAGCACCACCAG 0.647000 3 19 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62205614 62205614 + Splice_Site SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:62205614C>A ENST00000261517.5 - 62 8519 c.8445_splice c.e62-1 p.V2816_splice VPS13C_ENST00000395898.3_Splice_Site_p.V2773_splice|VPS13C_ENST00000249837.3_Splice_Site_p.V2773_splice|VPS13C_ENST00000395896.4_Splice_Site_p.V2816_splice NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2816 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TTTAATTGTACCTATACCAGA 0.358000 20 135 3.99206e-14 7.51297e-14 1 1 0 PROS1 5627 broad.mit.edu 37 3 93624899 93624899 + Silent SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:93624899A>G ENST00000394236.3 - 5 751 c.435T>C c.(433-435)tgT>tgC p.C145C PROS1_ENST00000407433.1_Silent_p.C14C NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 145 EGF-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) AACCTGGTTTACAAGTGCAAG 0.448000 21 176 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53062449 53062449 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:53062449G>T ENST00000276480.7 - 16 2578 c.1895C>A c.(1894-1896)tCc>tAc p.S632Y NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 632 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) AGTGTTAGAGGAAGTTAGGGG 0.438000 12 95 3.07112e-06 4.13291e-06 1 1 0 TMPRSS11A 339967 broad.mit.edu 37 4 68810257 68810257 + Nonsense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:68810257G>A ENST00000508048.1 - 3 264 c.229C>T c.(229-231)Cga>Tga p.R77* RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Nonsense_Mutation_p.R78*|TMPRSS11A_ENST00000334830.7_Nonsense_Mutation_p.R78* Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A 78 SEA. cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 29 GTCGTCTCTCGTAAGTCCTTA 0.338000 28 109 0 0 1 0 0 IPO9 55705 broad.mit.edu 37 1 201836004 201836004 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:201836004G>T ENST00000361565.4 + 15 1841 c.1772G>T c.(1771-1773)tGt>tTt p.C591F NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 591 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 TGCATCGTTTGTACAGTAGAC 0.517000 25 170 1.10923e-09 1.82169e-09 1 1 0 KDM2B 84678 broad.mit.edu 37 12 121891041 121891041 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:121891041C>A ENST00000377069.4 - 13 2154 c.1748G>T c.(1747-1749)cGc>cTc p.R583L KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000377071.4_Missense_Mutation_p.R614L|KDM2B_ENST00000536437.1_Missense_Mutation_p.R497L NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 614 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 CTCGCACTTGCGGCATCGCGT 0.697000 3 17 0.115264 0.119286 1 1 0 PIP5K1B 8395 broad.mit.edu 37 9 71491657 71491657 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:71491657T>A ENST00000265382.3 + 6 570 c.265T>A c.(265-267)Tta>Ata p.L89I PIP5K1B_ENST00000541509.1_Missense_Mutation_p.L89I NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 89 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) ATACGCTCCATTAGCATTCCG 0.373000 13 81 0 0 1 0 0 ST3GAL5 8869 broad.mit.edu 37 2 86088357 86088357 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:86088357T>A ENST00000377332.3 - 3 373 c.265A>T c.(265-267)Act>Tct p.T89S ST3GAL5_ENST00000393808.3_Missense_Mutation_p.T66S|ST3GAL5_ENST00000484728.1_5'UTR|ST3GAL5_ENST00000393805.1_Missense_Mutation_p.T61S|ST3GAL5_ENST00000525834.2_Missense_Mutation_p.T89S NM_003896.3 NP_003887.3 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 5 89 ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 CATTCTTCAGTAGTATAATTT 0.343000 16 62 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183609476 183609476 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:183609476G>C ENST00000511685.1 + 12 2316 c.2193G>C c.(2191-2193)caG>caC p.Q731H TENM3_ENST00000406950.2_Missense_Mutation_p.Q731H|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 AATGCAGCCAGGGCTGGAATG 0.592000 10 49 0 0 1 0 0 SALL4 57167 broad.mit.edu 37 20 50407048 50407048 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:50407048C>A ENST00000217086.4 - 2 2085 c.1974G>T c.(1972-1974)ctG>ctT p.L658L SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 658 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GATTCTCTGGCAGGGGCGTGT 0.547000 4 54 1 1 1 1 0 MAMLD1 10046 broad.mit.edu 37 X 149642051 149642051 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:149642051G>A ENST00000370401.2 + 5 2327 c.2017G>A c.(2017-2019)Gga>Aga p.G673R MAMLD1_ENST00000426613.2_Missense_Mutation_p.G648R|MAMLD1_ENST00000262858.5_Missense_Mutation_p.G673R|MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000455522.2_Intron Q13495 MAMD1_HUMAN mastermind-like domain containing 1 673 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCAGCCTGGAGACGTGTC 0.488000 31 117 0 0 1 0 0 MIOS 54468 broad.mit.edu 37 7 7612383 7612383 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:7612383G>T ENST00000340080.4 + 4 698 c.277G>T c.(277-279)Ggt>Tgt p.G93C MIOS_ENST00000405785.1_Missense_Mutation_p.G93C NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 93 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TACAAGCCTTGGTCAAGATCA 0.398000 16 140 2.31682e-05 2.94417e-05 1 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125627324 125627324 + Missense_Mutation SNP T T G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:125627324T>G ENST00000431078.1 + 21 3782 c.3418T>G c.(3418-3420)Ttg>Gtg p.L1140V NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 1140 Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GTCACTCACCTTGGGCAAAGT 0.393000 4 35 0 0 1 0 0 C4orf22 255119 broad.mit.edu 37 4 81884677 81884677 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:81884677C>A ENST00000358105.3 + 6 662 c.613C>A c.(613-615)Cca>Aca p.P205T C4orf22_ENST00000508675.1_Missense_Mutation_p.P222T NM_152770.2 NP_689983.2 Q6V702 CD022_HUMAN chromosome 4 open reading frame 22 205 NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5) 15 TTAGGCGCAGCCAGGTGACAA 0.323000 20 58 8.10497e-08 1.23279e-07 1 1 0 MYH8 4626 broad.mit.edu 37 17 10317596 10317596 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:10317596G>T ENST00000403437.2 - 11 1015 c.921C>A c.(919-921)acC>acA p.T307T CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 307 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 ATGGGTTGGTGGTGATCAGGA 0.388000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 21 189 2.98393e-07 4.35548e-07 1 1 0 ATP11C 286410 broad.mit.edu 37 X 138886699 138886699 + Silent SNP T T G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:138886699T>G ENST00000370557.1 - 6 1513 c.486A>C c.(484-486)ctA>ctC p.L162L ATP11C_ENST00000327569.3_Silent_p.L165L|ATP11C_ENST00000361648.2_Silent_p.L165L|ATP11C_ENST00000359686.2_Silent_p.L165L|ATP11C_ENST00000370543.1_Silent_p.L165L Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 165 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) TGCAAGATGATAGAAGAATAA 0.373000 43 200 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14537829 14537829 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:14537829A>G ENST00000358970.5 - 3 780 c.781T>C c.(781-783)Tat>Cat p.Y261H POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 261 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TCAGCACCATATAAGAGCAGT 0.363000 5 75 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3432593 3432593 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:3432593T>A ENST00000336727.3 + 17 4929 c.4025T>A c.(4024-4026)cTg>cAg p.L1342Q RGS12_ENST00000382788.3_Missense_Mutation_p.L1342Q|RGS12_ENST00000538395.1_3'UTR|RGS12_ENST00000338806.4_Missense_Mutation_p.L694Q|RGS12_ENST00000344733.5_Missense_Mutation_p.L1342Q NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1342 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GAGCTGACCCTGATGGGGGAG 0.677000 7 32 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175348727 175348727 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:175348727G>T ENST00000367674.1 - 9 2632 c.1924C>A c.(1924-1926)Ccc>Acc p.P642T TNR_ENST00000263525.2_Missense_Mutation_p.P642T NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 642 Fibronectin type-III 4. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.P642T(2) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) ATGCCCCTGGGGACCAGTACC 0.547000 5 55 5.9392e-07 8.50177e-07 1 1 0 SULF1 23213 broad.mit.edu 37 8 70536416 70536416 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:70536416G>T ENST00000260128.4 + 15 2551 c.1834G>T c.(1834-1836)Gtc>Ttc p.V612F SULF1_ENST00000419716.3_Missense_Mutation_p.V612F|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.V612F|SULF1_ENST00000402687.4_Missense_Mutation_p.V612F NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 612 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) ACCTACCACTGTCCGAGTGAC 0.512000 7 47 8.12818e-05 9.91291e-05 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77766230 77766230 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:77766230A>T ENST00000521891.2 + 10 7521 c.7073A>T c.(7072-7074)cAa>cTa p.Q2358L ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2332L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2313L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2313L NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2313 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCCACTGATCAAGTGGTATAC 0.493000 HNSCC(33;0.089) 19 149 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1921052 1921052 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:1921052C>A ENST00000399161.2 - 11 2290 c.1543G>T c.(1543-1545)Ggc>Tgc p.G515C MYT1L_ENST00000428368.2_Missense_Mutation_p.G513C NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 515 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GTTACGTGGCCGGTTCCATCA 0.532000 40 154 6.45866e-13 1.18689e-12 1 1 0 PRDM5 11107 broad.mit.edu 37 4 121732566 121732566 + Nonsense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:121732566T>A ENST00000264808.3 - 8 1144 c.904A>T c.(904-906)Aaa>Taa p.K302* PRDM5_ENST00000515109.1_Nonsense_Mutation_p.K271*|PRDM5_ENST00000428209.2_Nonsense_Mutation_p.K271* NM_018699.2 NP_061169.2 Q9NQX1 PRDM5_HUMAN PR domain containing 5 302 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GAACACTTTTTATTGCACACT 0.269000 7 49 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122632241 122632241 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:122632241G>T ENST00000195173.4 - 17 2611 c.2308C>A c.(2308-2310)Ccc>Acc p.P770T SEMA5B_ENST00000451055.2_Missense_Mutation_p.P825T|SEMA5B_ENST00000357599.3_Missense_Mutation_p.P771T Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 771 TSP type-1 2. 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) CGCACTTCGGGGCAGCCCTCG 0.716000 4 11 0.150653 0.154188 1 1 0 OR7G3 390883 broad.mit.edu 37 19 9236787 9236787 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:9236787C>A ENST00000305444.2 - 1 839 c.840G>T c.(838-840)gtG>gtT p.V280V NM_001001958.1 NP_001001958.1 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, member 3 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 TGGGGGTGACCACGGTATACA 0.458000 13 74 2.27111e-07 3.32483e-07 1 1 0 CDH16 1014 broad.mit.edu 37 16 66950328 66950328 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:66950328G>A ENST00000299752.4 - 4 327 c.134C>T c.(133-135)cCg>cTg p.P45L CDH16_ENST00000565796.1_Missense_Mutation_p.P45L|CDH16_ENST00000394055.3_Missense_Mutation_p.P45L|CDH16_ENST00000568632.1_Missense_Mutation_p.P45L|CDH16_ENST00000570262.1_Intron NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 45 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) ACGGGGCAGCGGCAACTGATG 0.582000 3 27 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38433709 38433709 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:38433709C>A ENST00000356264.2 - 18 1719 c.1504G>T c.(1504-1506)Ggg>Tgg p.G502W AMPH_ENST00000428293.2_Missense_Mutation_p.G460W|AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000325590.5_Missense_Mutation_p.G460W NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 502 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 ACTCCTTCCCCGGCAGGGACA 0.582000 23 128 9.95505e-16 1.91235e-15 1 1 0 PLXND1 23129 broad.mit.edu 37 3 129275272 129275272 + Splice_Site SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:129275272C>A ENST00000393239.1 - 36 5847 c.e36-1 PLXND1_ENST00000324093.4_Splice_Site|PLXND1_ENST00000504689.1_Intron Q9Y4D7 PLXD1_HUMAN plexin D1 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 CGGCCATGATCTGAGGGGAGC 0.617000 11 66 3.86212e-05 4.82521e-05 1 1 0 KIAA1199 57214 broad.mit.edu 37 15 81173419 81173419 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:81173419C>A ENST00000394685.3 + 6 978 c.559C>A c.(559-561)Cgt>Agt p.R187S KIAA1199_ENST00000220244.3_Missense_Mutation_p.R187S|KIAA1199_ENST00000356249.5_Missense_Mutation_p.R187S Q8WUJ3 K1199_HUMAN KIAA1199 187 R -> C (in a family with non-syndromic hearing loss).|R -> H (in two unrelated families with non-syndromic hearing loss). breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 CTGGGGCCACCGTGGAGTTAT 0.468000 20 145 1.9806e-07 2.94017e-07 1 1 0 CALHM2 51063 broad.mit.edu 37 10 105209550 105209550 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:105209550G>T ENST00000393235.1 - 3 1346 c.149C>A c.(148-150)cCg>cAg p.P50Q CALHM2_ENST00000260743.5_Missense_Mutation_p.P50Q|CALHM2_ENST00000494180.1_5'UTR|CALHM2_ENST00000369788.3_Missense_Mutation_p.P50Q Q9HA72 CAHM2_HUMAN calcium homeostasis modulator 2 50 integral to membrane NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1) 11 GTTCCGGGCCGGCGAGCAGGG 0.622000 15 59 1.49906e-05 1.92643e-05 1 1 0 MYO7B 4648 broad.mit.edu 37 2 128367240 128367240 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:128367240C>A ENST00000389524.4 + 23 3027 c.2974C>A c.(2974-2976)Cgg>Agg p.R992R MYO7B_ENST00000428314.1_Silent_p.R992R|MYO7B_ENST00000409816.2_Silent_p.R992R Q6PIF6 MYO7B_HUMAN myosin VIIB 992 MyTH4 1. 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) ACACATCCGGCGGCCCCTCCG 0.587000 16 85 8.00594e-06 1.05442e-05 1 1 0 PTPRZ1 5803 broad.mit.edu 37 7 121623874 121623874 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:121623874C>A ENST00000393386.2 + 7 1186 c.775C>A c.(775-777)Cag>Aag p.Q259K PTPRZ1_ENST00000449182.1_Missense_Mutation_p.Q259K NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 259 Alpha-carbonic anhydrase. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 CTCTGAAAGCCAGGTAATCTT 0.318000 11 98 3.86212e-05 4.82521e-05 1 1 0 WNK1 65125 broad.mit.edu 37 12 980429 980429 + Splice_Site SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:980429A>T ENST00000537687.1 + 10 4021 c.e10-1 WNK1_ENST00000530271.2_Splice_Site|WNK1_ENST00000315939.6_Splice_Site|WNK1_ENST00000535572.1_Splice_Site|WNK1_ENST00000340908.4_Splice_Site NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TCTTTCCTTCAGGCACAGGGG 0.448000 7 54 0 0 1 0 0 SCNN1B 6338 broad.mit.edu 37 16 23388520 23388520 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:23388520G>T ENST00000343070.2 + 9 1481 c.1305G>T c.(1303-1305)gcG>gcT p.A435A SCNN1B_ENST00000568923.1_Silent_p.A408A|SCNN1B_ENST00000307331.5_Silent_p.A480A|SCNN1B_ENST00000568085.1_Silent_p.A399A NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 435 excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) TGAGCGTGGCGCAGAGAGAGA 0.612000 4 25 0.150653 0.154188 1 1 0 SLC26A2 1836 broad.mit.edu 37 5 149360151 149360151 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:149360151C>T ENST00000286298.4 + 3 1263 c.995C>T c.(994-996)cCg>cTg p.P332L NM_000112.3 NP_000103.2 P50443 S26A2_HUMAN solute carrier family 26 (anion exchanger), member 2 332 integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity p.P332L(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CTTAAGGCACCGATTCCTATT 0.383000 10 96 0 0 1 0 0 STRA6 64220 broad.mit.edu 37 15 74473699 74473699 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:74473699C>A ENST00000323940.5 - 17 1866 c.1621G>T c.(1621-1623)Gcc>Tcc p.A541S STRA6_ENST00000574278.1_Missense_Mutation_p.A556S|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000563965.1_Missense_Mutation_p.A580S|STRA6_ENST00000535552.1_Missense_Mutation_p.A578S|STRA6_ENST00000449139.2_Missense_Mutation_p.A541S|STRA6_ENST00000423167.2_Missense_Mutation_p.A532S|STRA6_ENST00000416286.3_Missense_Mutation_p.A533S|STRA6_ENST00000395105.4_Missense_Mutation_p.A541S NM_001142617.1|NM_001142618.1|NM_001142619.1 NP_001136089.1|NP_001136090.1|NP_001136091.1 Q9BX79 STRA6_HUMAN stimulated by retinoic acid 6 541 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 AGGTGGATGGCGTTGTAGAGG 0.637000 8 35 5.4927e-09 8.74e-09 1 1 0 OR2T12 127064 broad.mit.edu 37 1 248458817 248458817 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:248458817G>T ENST00000317996.1 - 1 63 c.64C>A c.(64-66)Cac>Aac p.H22N NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) AGGACTTGGTGGGCTCTGGTG 0.478000 38 137 2.26627e-22 4.6166e-22 1 1 0 RALGDS 5900 broad.mit.edu 37 9 135985807 135985807 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:135985807C>A ENST00000393160.3 - 3 552 c.199G>T c.(199-201)Gag>Tag p.E67* RALGDS_ENST00000542690.1_Nonsense_Mutation_p.E193*|RALGDS_ENST00000393157.3_Nonsense_Mutation_p.E121*|RALGDS_ENST00000372047.3_Nonsense_Mutation_p.E122*|RALGDS_ENST00000372050.3_Nonsense_Mutation_p.E122*|RALGDS_ENST00000372062.3_Nonsense_Mutation_p.E105* NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 122 nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) ACCAGCTTCTCCAGCGTGCCA 0.582000 T CIITA """PMBL, Hodgkin Lymphona, """ 10 46 2.17888e-05 2.77601e-05 1 1 0 RYR2 6262 broad.mit.edu 37 1 237777861 237777861 + Silent SNP A A C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:237777861A>C ENST00000366574.2 + 37 5750 c.5433A>C c.(5431-5433)ggA>ggC p.G1811G RYR2_ENST00000360064.6_Silent_p.G1809G|RYR2_ENST00000542537.1_Silent_p.G1795G NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1811 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding 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) ACCCAGTTGGAGGGACTACTG 0.483000 61 243 0 0 1 0 0 HS6ST3 266722 broad.mit.edu 37 13 97485038 97485038 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr13:97485038C>T ENST00000376705.2 + 2 1026 c.1002C>T c.(1000-1002)aaC>aaT p.N334N NM_153456.3 NP_703157.2 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 334 integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) GTGAAAGAAACACCATCCTGT 0.493000 4 69 0 0 1 0 0 MIR381HG 378881 broad.mit.edu 37 14 101514288 101514288 + RNA SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:101514288A>T ENST00000553692.1 + 0 28 MIR889_ENST00000401280.1_RNA TATGATGATTAATATCGGACA 0.428000 4 32 0 0 1 0 0 SLC5A1 6523 broad.mit.edu 37 22 32477882 32477882 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr22:32477882C>A ENST00000266088.4 + 6 757 c.507C>A c.(505-507)atC>atA p.I169I SLC5A1_ENST00000543737.1_Silent_p.I42I NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 169 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 CCATATTCATCAATCTGGCCT 0.493000 21 138 8.04996e-18 1.58751e-17 1 1 0 AKAP12 9590 broad.mit.edu 37 6 151671717 151671717 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:151671717G>A ENST00000402676.2 + 4 2431 c.2191G>A c.(2191-2193)Ggt>Agt p.G731S AKAP12_ENST00000253332.1_Missense_Mutation_p.G731S|AKAP12_ENST00000359755.5_Missense_Mutation_p.G626S|AKAP12_ENST00000354675.6_Missense_Mutation_p.G633S NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 731 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) GATCCTTGCTGGTTCCCAAGA 0.557000 17 116 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28587995 28587995 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:28587995C>A ENST00000434452.1 - 11 1804 c.1650G>T c.(1648-1650)ctG>ctT p.L550L DSC3_ENST00000360428.4_Silent_p.L550L NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 550 Cadherin 4. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) TGTCTATTGCCAGGACTGTAA 0.308000 3 32 0.115264 0.119286 1 1 0 RGS22 26166 broad.mit.edu 37 8 101020743 101020743 + Nonsense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:101020743G>A ENST00000360863.6 - 15 2415 c.2221C>T c.(2221-2223)Cag>Tag p.Q741* RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523287.1_Nonsense_Mutation_p.Q560*|RGS22_ENST00000523437.1_Nonsense_Mutation_p.Q729* NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 741 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TTCTTTTCCTGTTGGAGTCCA 0.413000 10 40 0 0 1 0 0 ADAM19 8728 broad.mit.edu 37 5 156917346 156917346 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:156917346G>A ENST00000257527.4 - 19 2290 c.2212C>T c.(2212-2214)Ctc>Ttc p.L738F ADAM19_ENST00000517905.1_Missense_Mutation_p.L738F|ADAM19_ENST00000430702.2_Missense_Mutation_p.L471F|ADAM19_ENST00000394020.1_Missense_Mutation_p.L740F NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 738 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTGGAAGGGAGAGCTGAGGGC 0.507000 15 78 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32598214 32598214 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr21:32598214C>T ENST00000286827.3 - 8 2108 c.1637G>A c.(1636-1638)tGc>tAc p.C546Y TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.C546Y NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 546 PH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CGCAGTGGCGCAGGCAGAGTG 0.522000 6 41 0 0 1 0 0 IGDCC4 57722 broad.mit.edu 37 15 65686837 65686837 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:65686837G>A ENST00000352385.2 - 9 1835 c.1626C>T c.(1624-1626)gaC>gaT p.D542D NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 542 Fibronectin type-III 2. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 CCACCCTGATGTCCGAAGGGT 0.602000 17 98 0 0 1 0 0 KCNK2 3776 broad.mit.edu 37 1 215259728 215259728 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:215259728C>G ENST00000444842.2 + 2 214 c.64C>G c.(64-66)Ctg>Gtg p.L22V KCNK2_ENST00000391894.2_Missense_Mutation_p.L7V|KCNK2_ENST00000391895.2_Missense_Mutation_p.L18V NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 22 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) ACCTGACTTGCTGGATCCTAA 0.522000 4 76 0 0 1 0 0 HDC 3067 broad.mit.edu 37 15 50546732 50546732 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:50546732C>A ENST00000267845.3 - 5 973 c.571G>T c.(571-573)Gac>Tac p.D191Y HDC_ENST00000543581.1_Missense_Mutation_p.D191Y NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 191 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) CTCACCTGGTCAGAGGCATAG 0.537000 12 48 1.49906e-05 1.92643e-05 1 1 0 BMP15 9210 broad.mit.edu 37 X 50659164 50659164 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:50659164G>A ENST00000252677.3 + 2 736 c.736G>A c.(736-738)Gct>Act p.A246T NM_005448.2 NP_005439.2 O95972 BMP15_HUMAN bone morphogenetic protein 15 246 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) CATTCGGAAGGCTAAATTTCT 0.463000 20 60 0 0 1 0 0 TUBA3E 112714 broad.mit.edu 37 2 130951766 130951766 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:130951766G>T ENST00000312988.7 - 4 749 c.649C>A c.(649-651)Ctg>Atg p.L217M NM_207312.2 NP_997195.1 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 217 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2) 28 Colorectal(110;0.1) TCAATGTCCAGGTTGCGCCGA 0.542000 24 128 1.10923e-09 1.82169e-09 1 1 0 ROBO4 54538 broad.mit.edu 37 11 124757285 124757285 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:124757285C>A ENST00000306534.3 - 14 2652 c.2167G>T c.(2167-2169)Gaa>Taa p.E723* ROBO4_ENST00000533054.1_Nonsense_Mutation_p.E578*|RP11-664I21.5_ENST00000524453.1_RNA NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 723 Pro/Ser-rich. angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) GGGGGAGTTTCATGAGGAAAG 0.607000 15 58 8.28177e-16 1.5992e-15 1 1 0 ANK1 286 broad.mit.edu 37 8 41563750 41563750 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:41563750T>A ENST00000396942.1 - 18 2091 c.2008A>T c.(2008-2010)Act>Tct p.T670S ANK1_ENST00000352337.4_Missense_Mutation_p.T670S|ANK1_ENST00000347528.4_Missense_Mutation_p.T670S|ANK1_ENST00000379758.2_Missense_Mutation_p.T670S|ANK1_ENST00000396945.1_Missense_Mutation_p.T670S|ANK1_ENST00000265709.8_Missense_Mutation_p.T703S|ANK1_ENST00000289734.7_Missense_Mutation_p.T670S P16157 ANK1_HUMAN ankyrin 1, erythrocytic 670 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TGGAGGGGAGTGAGTCCGCTC 0.532000 4 31 0 0 1 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140730891 140730891 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:140730891A>G ENST00000523390.1 + 1 1064 c.1064A>G c.(1063-1065)gAt>gGt p.D355G PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTCCAGAGGATTCAGACCTT 0.433000 5 35 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561121 11561121 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:11561121G>T ENST00000294484.6 + 2 210 c.72G>T c.(70-72)acG>acT p.T24T PTCHD2_ENST00000389575.3_Silent_p.T24T NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 24 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) AAGAAGCAACGGGTGAAACCT 0.632000 11 40 6.40141e-05 7.91768e-05 1 1 0 FYB 2533 broad.mit.edu 37 5 39202744 39202744 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:39202744C>A ENST00000351578.6 - 2 509 c.319G>T c.(319-321)Gtg>Ttg p.V107L FYB_ENST00000540520.1_Missense_Mutation_p.V117L|FYB_ENST00000505428.1_Missense_Mutation_p.V107L|FYB_ENST00000515010.1_Missense_Mutation_p.V107L|FYB_ENST00000512982.1_Missense_Mutation_p.V107L NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 107 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) AGAAATCCCACTTTCGCCTCG 0.542000 12 44 8.60227e-14 1.61279e-13 1 1 0 NUP153 9972 broad.mit.edu 37 6 17629326 17629326 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:17629326G>A ENST00000262077.2 - 18 3103 c.3104C>T c.(3103-3105)cCt>cTt p.P1035L NUP153_ENST00000537253.1_Missense_Mutation_p.P1066L NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa 1035 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) GGTGTTAGCAGGAGCAGGGGT 0.448000 15 68 0 0 1 0 0 CXorf48 54967 broad.mit.edu 37 X 134303519 134303519 + Splice_Site SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:134303519T>A ENST00000344129.2 - 2 504 c.279_splice c.e2+1 p.K93_splice CXorf48_ENST00000276241.6_Splice_Site_p.K93_splice NM_017863.2 NP_060333.1 Q8WUE5 CX048_HUMAN chromosome X open reading frame 48 93 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 5 Acute lymphoblastic leukemia(192;0.000127) ACATCTCACCTTGATTGCTCT 0.413000 13 37 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7229617 7229617 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:7229617G>T ENST00000379938.2 + 10 1822 c.1285G>T c.(1285-1287)Gcg>Tcg p.A429S RREB1_ENST00000349384.6_Missense_Mutation_p.A429S|RREB1_ENST00000334984.6_Missense_Mutation_p.A429S|RREB1_ENST00000379933.3_Missense_Mutation_p.A429S NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 429 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) AGTTCTCCCCGCGACCAAGGA 0.582000 12 79 3.07112e-06 4.13291e-06 1 1 0 BAZ1A 11177 broad.mit.edu 37 14 35331515 35331515 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:35331515G>C ENST00000360310.1 - 3 694 c.127C>G c.(127-129)Cga>Gga p.R43G BAZ1A_ENST00000358716.4_Missense_Mutation_p.R43G|BAZ1A_ENST00000553853.1_5'UTR|BAZ1A_ENST00000382422.2_Missense_Mutation_p.R43G NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 43 Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC. chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) AGAATGGTTCGTTCAAAAAAG 0.368000 22 143 0 0 1 0 0 EML3 256364 broad.mit.edu 37 11 62377136 62377136 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:62377136C>A ENST00000394773.2 - 5 906 c.599G>T c.(598-600)gGg>gTg p.G200V EML3_ENST00000531557.1_5'UTR|EML3_ENST00000529309.1_Missense_Mutation_p.G200V|EML3_ENST00000494176.2_Missense_Mutation_p.G172V|EML3_ENST00000278845.4_Missense_Mutation_p.G201V NM_153265.2 NP_694997.2 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 3 200 cytoplasm|microtubule protein binding biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TCCAGGGCCCCCAGGGCTGGA 0.577000 32 246 6.53348e-20 1.30581e-19 1 1 0 TNN 63923 broad.mit.edu 37 1 175113615 175113615 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:175113615G>C ENST00000239462.4 + 18 3801 c.3688G>C c.(3688-3690)Ggt>Cgt p.G1230R NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 1230 Fibrinogen C-terminal. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GACACATCATGGTGGCTGGTG 0.483000 10 71 0 0 1 0 0 MORC3 23515 broad.mit.edu 37 21 37741775 37741775 + Silent SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr21:37741775A>G ENST00000400485.1 + 15 2185 c.2109A>G c.(2107-2109)ctA>ctG p.L703L MORC3_ENST00000487909.1_3'UTR NM_015358.2 NP_056173.1 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 703 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GAAACCAGCTACTCCTTGTCA 0.388000 17 77 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121676729 121676729 + Missense_Mutation SNP A A C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:121676729A>C ENST00000393386.2 + 18 5771 c.5360A>C c.(5359-5361)tAt>tCt p.Y1787S PTPRZ1_ENST00000449182.1_Missense_Mutation_p.Y920S NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1787 Tyrosine-protein phosphatase 1. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 AATGCCAATTATGTTGATGTA 0.299000 9 51 0 0 1 0 0 MIR379 494328 broad.mit.edu 37 14 101488423 101488423 + RNA SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:101488423C>G ENST00000362218.3 + 0 58 NR_029871.1 GACTATGGAACGTAGGCGTTA 0.512000 7 50 0 0 1 0 0 LRIT2 340745 broad.mit.edu 37 10 85984142 85984142 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:85984142G>T ENST00000372113.4 - 2 844 c.839C>A c.(838-840)cCc>cAc p.P280H LRIT2_ENST00000538192.1_Missense_Mutation_p.P280H NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 280 Ig-like. 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 GGATGGTGAGGGGCTGGCCTG 0.532000 10 46 4.68919e-08 7.19883e-08 1 1 0 GPNMB 10457 broad.mit.edu 37 7 23306147 23306147 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:23306147G>T ENST00000258733.4 + 7 1325 c.1030G>T c.(1030-1032)Gac>Tac p.D344Y GPNMB_ENST00000381990.2_Missense_Mutation_p.D356Y|GPNMB_ENST00000453162.2_Missense_Mutation_p.D298Y|GPNMB_ENST00000539136.1_Missense_Mutation_p.D245Y Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb 356 negative regulation of cell proliferation melanosome breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2) 41 GBM - Glioblastoma multiforme(13;0.154) ACCTGCTGGTGACAACCCCCT 0.398000 10 70 6.40141e-05 7.91768e-05 1 1 0 SPANXC 64663 broad.mit.edu 37 X 140336571 140336571 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:140336571G>T ENST00000358993.2 - 1 58 c.20C>A c.(19-21)gCc>gAc p.A7D NM_022661.2 NP_073152.1 Q9NY87 SPNXC_HUMAN SPANX family, member C 7 cytoplasm|nucleus large_intestine(2)|lung(3)|pancreas(1) 6 Acute lymphoblastic leukemia(192;7.65e-05) CACCCCGCCGGCACTGGATTG 0.502000 34 98 5.71845e-15 1.09144e-14 1 1 0 CTNNBL1 56259 broad.mit.edu 37 20 36361319 36361319 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:36361319G>A ENST00000361383.6 + 2 186 c.69G>A c.(67-69)gaG>gaA p.E23E CTNNBL1_ENST00000405275.2_5'UTR NM_030877.3 NP_110517.2 Q8WYA6 CTBL1_HUMAN catenin, beta like 1 23 Poly-Glu. apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins nucleus enzyme binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) ATGATGAAGAGGAGGAGCAGA 0.502000 6 42 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 134108561 134108561 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:134108561C>A ENST00000220616.4 + 43 7556 c.7516C>A c.(7516-7518)Ctg>Atg p.L2506M SLA_ENST00000524345.1_Intron|SLA_ENST00000338087.5_Intron|SLA_ENST00000517648.1_Intron|TG_ENST00000542445.1_Missense_Mutation_p.L876M|SLA_ENST00000518565.1_Intron|TG_ENST00000519543.1_Missense_Mutation_p.L639M|TG_ENST00000377869.1_Missense_Mutation_p.L2449M|SLA_ENST00000395352.3_Intron NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2506 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGAGGTCGATCTGCTCATTGG 0.577000 28 151 1.55811e-20 3.12676e-20 1 1 0 SYT16 83851 broad.mit.edu 37 14 62463160 62463160 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:62463160G>T ENST00000430451.2 + 1 620 c.423G>T c.(421-423)gcG>gcT p.A141A SYT16_ENST00000446982.2_Silent_p.A141A NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 141 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) CTTCTATTGCGGAGGAAGAGC 0.473000 21 119 9.95505e-16 1.91235e-15 1 1 0 ARHGAP11A 9824 broad.mit.edu 37 15 32929861 32929861 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:32929861G>T ENST00000361627.3 + 12 3609 c.2887G>T c.(2887-2889)Gat>Tat p.D963Y ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.D774Y|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.D774Y NM_014783.3 NP_055598.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 963 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) GGTTCCCTTGGATGATCTGAC 0.383000 11 67 1.08611e-07 1.63191e-07 1 1 0 MSH2 4436 broad.mit.edu 37 2 47690261 47690261 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:47690261A>T ENST00000406134.1 + 9 1540 c.1478A>T c.(1477-1479)cAg>cTg p.Q493L MSH2_ENST00000543555.1_Missense_Mutation_p.Q427L|MSH2_ENST00000233146.2_Missense_Mutation_p.Q493L P43246 MSH2_HUMAN mutS homolog 2 493 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.0?(2)|p.?(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AAGAAGATGCAGTCAACATTA 0.343000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 16 107 0 0 1 0 0 SGOL2 151246 broad.mit.edu 37 2 201399808 201399808 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:201399808A>G ENST00000357799.4 + 3 321 c.223A>G c.(223-225)Att>Gtt p.I75V SGOL2_ENST00000409203.3_Missense_Mutation_p.I75V NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 75 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 TTCTCGAAGAATTACAACTGA 0.313000 13 83 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3430124 3430124 + RNA SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:3430124C>A ENST00000529482.1 + 0 2253 CAGGGCAAATCCTTTCGAGCA 0.557000 5 19 0.014758 0.0158251 1 1 0 PM20D1 148811 broad.mit.edu 37 1 205819059 205819059 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:205819059G>T ENST00000367136.4 - 1 186 c.142C>A c.(142-144)Cgc>Agc p.R48S PM20D1_ENST00000460624.1_5'UTR NM_152491.4 NP_689704.4 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 48 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) ATCGCGACGCGTTCCTCTTTG 0.602000 16 73 7.07596e-05 8.73743e-05 1 1 0 ZC4H2 55906 broad.mit.edu 37 X 64140089 64140089 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:64140089C>A ENST00000545618.1 - 4 818 c.255G>T c.(253-255)ctG>ctT p.L85L ZC4H2_ENST00000374839.3_Silent_p.L90L|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Silent_p.L67L|ZC4H2_ENST00000447788.2_Silent_p.L90L Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 90 metal ion binding|protein binding endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 TAGACTCTAGCAGCTTGTTTA 0.473000 22 96 4.26978e-12 7.61067e-12 1 1 0 GPR111 222611 broad.mit.edu 37 6 47641198 47641198 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:47641198C>T ENST00000398742.2 + 1 92 c.43C>T c.(43-45)Ccc>Tcc p.P15S GPR111_ENST00000507065.1_Missense_Mutation_p.P15S|GPR111_ENST00000296862.1_Intron Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 0 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 GTTTCTTTTGCCCACAGAGTC 0.388000 11 88 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248366567 248366567 + Silent SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:248366567G>C ENST00000456743.1 + 1 236 c.198G>C c.(196-198)ctG>ctC p.L66L NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TCAGCCAACTGTCCCTCATGG 0.542000 70 528 0 0 1 0 0 KRT6A 3853 broad.mit.edu 37 12 52884514 52884514 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:52884514G>T ENST00000330722.6 - 5 984 c.916C>A c.(916-918)Ctg>Atg p.L306M NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 306 Coil 1B.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) ATCTGGGACAGCTCCTGCAGA 0.507000 24 121 1.64293e-13 3.06474e-13 1 1 0 ALG10 84920 broad.mit.edu 37 12 34178815 34178815 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:34178815G>T ENST00000266483.2 + 3 706 c.387G>T c.(385-387)caG>caT p.Q129H RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron NM_032834.3 NP_116223.3 Q5BKT4 AG10A_HUMAN ALG10, alpha-1,2-glucosyltransferase 129 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) CAAGTATCCAGAGAGTCTTGT 0.303000 17 97 1.50039e-11 2.63948e-11 1 1 0 SMG1 23049 broad.mit.edu 37 16 18866197 18866197 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:18866197T>A ENST00000446231.2 - 30 4676 c.4264A>T c.(4264-4266)Atg>Ttg p.M1422L SMG1_ENST00000389467.3_Missense_Mutation_p.M1422L Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 1422 FAT.|Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 CCTAATTCCATGAGATGGCTT 0.418000 12 77 0 0 1 0 0 T 6862 broad.mit.edu 37 6 166580164 166580164 + Silent SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:166580164C>G ENST00000296946.2 - 3 855 c.387G>C c.(385-387)tcG>tcC p.S129S T_ENST00000366871.3_Silent_p.S129S NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 129 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) CGAAGTTGGGCGAGTCGGGGT 0.657000 Chordoma, Familial Clustering of 12 79 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185987352 185987352 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:185987352G>C ENST00000271588.4 + 34 5567 c.5338G>C c.(5338-5340)Gga>Cga p.G1780R HMCN1_ENST00000367492.2_Missense_Mutation_p.G1780R NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1780 Ig-like C2-type 15. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TGAAAGGGATGGATTCAAGAT 0.388000 14 168 0 0 1 0 0 GBP7 388646 broad.mit.edu 37 1 89618023 89618023 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:89618023G>T ENST00000294671.2 - 5 691 c.553C>A c.(553-555)Ctg>Atg p.L185M NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 185 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) TTCAGCTCCAGGGTAAAATCT 0.468000 16 116 1.52009e-12 2.77281e-12 1 1 0 RAPGEF1 2889 broad.mit.edu 37 9 134467558 134467558 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:134467558T>A ENST00000372195.1 - 15 2438 c.2195A>T c.(2194-2196)tAc>tTc p.Y732F RAPGEF1_ENST00000372190.3_Missense_Mutation_p.Y733F|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.Y715F Q13905 RPGF1_HUMAN Rap guanine nucleotide exchange factor (GEF) 1 715 N-terminal Ras-GEF. activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) TGCCTCGCAGTACAACACCAA 0.532000 15 49 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56538870 56538870 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:56538870C>A ENST00000390649.3 + 7 1271 c.1271C>A c.(1270-1272)cCc>cAc p.P424H NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 424 NACHT. mitochondrion|nucleolus ATP binding p.P424L(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GTCGTGTCTCCCCGTTACCTG 0.552000 11 25 1.58986e-06 2.19736e-06 1 1 0 NET1 10276 broad.mit.edu 37 10 5498651 5498651 + Silent SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:5498651T>C ENST00000355029.4 + 12 1627 c.1485T>C c.(1483-1485)tgT>tgC p.C495C NET1_ENST00000380359.3_Silent_p.C441C|NET1_ENST00000542715.1_Silent_p.C314C NM_001047160.1 NP_001040625.1 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming 1 495 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1) 23 GGTTCAACTGTATTCGAGCGG 0.567000 17 105 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167617511 167617511 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:167617511T>A ENST00000519204.1 + 13 2494 c.2376T>A c.(2374-2376)gaT>gaA p.D792E TENM2_ENST00000518659.1_Missense_Mutation_p.D913E|TENM2_ENST00000520394.1_Missense_Mutation_p.D681E|TENM2_ENST00000403607.2_Missense_Mutation_p.D737E|TENM2_ENST00000545108.1_Missense_Mutation_p.D913E teneurin transmembrane protein 2 CAGGCAAGGATAGCACCCACA 0.557000 5 26 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149152289 149152289 + Silent SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:149152289G>C ENST00000247930.4 - 2 1148 c.825C>G c.(823-825)ggC>ggG p.G275G NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 275 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CTCCATTGCTGCCGGGGGGCA 0.522000 21 137 0 0 1 0 0 CLDN14 23562 broad.mit.edu 37 21 37833637 37833637 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr21:37833637G>T ENST00000399137.1 - 3 1223 c.357C>A c.(355-357)atC>atA p.I119I CLDN14_ENST00000399136.1_Silent_p.I119I|AP000695.4_ENST00000428667.1_RNA|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399139.1_Silent_p.I119I|CLDN14_ENST00000342108.2_Silent_p.I119I|CLDN14_ENST00000399135.1_Silent_p.I119I NM_144492.2 NP_652763.1 O95500 CLD14_HUMAN claudin 14 119 calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|lung(5)|skin(1) 7 TGCCGCCGAGGATGGCAAAGG 0.657000 13 71 2.32078e-09 3.76969e-09 1 1 0 OR2T3 343173 broad.mit.edu 37 1 248637272 248637272 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:248637272C>A ENST00000359594.2 + 1 646 c.621C>A c.(619-621)tgC>tgA p.C207* NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C207*(1) breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGTACCTGTGCTGCATCCTCA 0.537000 37 342 2.91434e-09 4.70802e-09 1 1 0 OTOF 9381 broad.mit.edu 37 2 26688940 26688940 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:26688940G>A ENST00000272371.2 - 37 4631 c.4505C>T c.(4504-4506)aCg>aTg p.T1502M OTOF_ENST00000339598.3_Missense_Mutation_p.T735M|OTOF_ENST00000338581.6_Missense_Mutation_p.T735M|OTOF_ENST00000403946.3_Missense_Mutation_p.T1502M|OTOF_ENST00000402415.3_Missense_Mutation_p.T812M NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1502 C2 4. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGCAGGTCCGTGGCCTGGAA 0.602000 4 42 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152187885 152187885 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:152187885C>A ENST00000368801.2 - 3 6295 c.6220G>T c.(6220-6222)Ggg>Tgg p.G2074W FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2074 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGCCTTGACCCAGACCCACGC 0.632000 39 276 3.09479e-21 6.25282e-21 1 1 0 OR4L1 122742 broad.mit.edu 37 14 20528620 20528620 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:20528620G>T ENST00000315683.1 + 1 417 c.417G>T c.(415-417)aaG>aaT p.K139N NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TGAGCCACAAGCTGCTAAAGG 0.423000 22 146 3.5997e-14 6.80045e-14 1 1 0 OR10A7 121364 broad.mit.edu 37 12 55615645 55615645 + Silent SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:55615645T>A ENST00000326258.1 + 1 837 c.837T>A c.(835-837)acT>acA p.T279T NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 TGTCCTACACTGTCATCACAC 0.488000 10 84 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102483429 102483429 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:102483429G>T ENST00000369138.1 + 14 2789 c.2299G>T c.(2299-2301)Ggc>Tgc p.G767C GRIK2_ENST00000369137.3_Missense_Mutation_p.G691C|GRIK2_ENST00000421544.1_Missense_Mutation_p.G767C|GRIK2_ENST00000413795.1_Missense_Mutation_p.G767C|GRIK2_ENST00000318991.6_Missense_Mutation_p.G767C|GRIK2_ENST00000369134.4_Missense_Mutation_p.G718C NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 767 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TTATGGCGTTGGCACTCCCAT 0.443000 21 114 2.4624e-09 3.98661e-09 1 1 0 IRF4 3662 broad.mit.edu 37 6 398864 398864 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:398864C>A ENST00000380956.4 + 6 800 c.674C>A c.(673-675)cCa>cAa p.P225Q NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 225 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) GCTTGTGCCCCACCTGAGTCC 0.567000 T IGH@ MM 12 27 3.07112e-06 4.13291e-06 1 1 0 FAM47B 170062 broad.mit.edu 37 X 34961936 34961936 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:34961936C>A ENST00000329357.5 + 1 1024 c.988C>A c.(988-990)Cat>Aat p.H330N NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 330 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 TGGAGTGTCCCATCTCTGCCT 0.602000 12 65 0.00185496 0.00210797 1 1 0 DLGAP2 9228 broad.mit.edu 37 8 1514007 1514007 + Silent SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:1514007A>T ENST00000421627.2 + 3 1283 c.1149A>T c.(1147-1149)ctA>ctT p.L383L RP11-666I19.2_ENST00000518063.1_RNA NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 462 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CGGCAATCCTACCAGAGCCGC 0.567000 4 17 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52508992 52508992 + Missense_Mutation SNP A A C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr13:52508992A>C ENST00000242839.4 - 21 4454 c.4298T>G c.(4297-4299)cTg>cGg p.L1433R ATP7B_ENST00000417240.2_Missense_Mutation_p.L644R|ATP7B_ENST00000344297.5_Missense_Mutation_p.L1226R|ATP7B_ENST00000400366.3_Missense_Mutation_p.L1322R|ATP7B_ENST00000400370.3_Missense_Mutation_p.L1003R|ATP7B_ENST00000418097.2_Missense_Mutation_p.L1368R|ATP7B_ENST00000448424.2_Missense_Mutation_p.L1355R NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 1433 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) GTCGGACGTCAGGGAGGACAG 0.602000 Wilson disease 7 64 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169186775 169186775 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:169186775C>G ENST00000256935.8 + 24 2523 c.2443C>G c.(2443-2445)Ctc>Gtc p.L815V DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.L307V NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 815 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) TGCGAAGTTACTCAGGTGAGA 0.478000 12 76 0 0 1 0 0 SNX18 112574 broad.mit.edu 37 5 53814547 53814547 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:53814547G>T ENST00000343017.6 + 1 959 c.765G>T c.(763-765)ggG>ggT p.G255G SNX18_ENST00000326277.3_Silent_p.G255G|SNX18_ENST00000381410.4_Silent_p.G255G NM_001145427.1 NP_001138899.1 Q96RF0 SNX18_HUMAN sorting nexin 18 255 cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 18 Lung NSC(810;3.46e-05)|Breast(144;0.102) TGAAGGACGGGGACAAGCTGT 0.657000 6 78 8.12818e-05 9.91291e-05 1 1 0 ZNF12 7559 broad.mit.edu 37 7 6732169 6732169 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:6732169T>C ENST00000405858.1 - 5 945 c.404A>G c.(403-405)tAt>tGt p.Y135C AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Intron|ZNF12_ENST00000404360.1_Intron NM_006956.2|NM_016265.3 NP_008887.2|NP_057349.2 P17014 ZNF12_HUMAN zinc finger protein 12 135 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) GCTATTTTTATAGGCTATTTT 0.363000 33 268 0 0 1 0 0 ATP6V1G3 127124 broad.mit.edu 37 1 198492602 198492602 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:198492602C>G ENST00000367381.1 - 5 399 c.294G>C c.(292-294)atG>atC p.M98I ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.M98I|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.M92I|ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.M92I Q96LB4 VATG3_HUMAN ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 92 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex ATPase binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 7 TCACACTTTCCATATACTTAT 0.378000 4 36 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152276224 152276224 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:152276224T>A ENST00000368799.1 - 3 11173 c.11138A>T c.(11137-11139)cAg>cTg p.Q3713L FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3713 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGTGCTCACCTGGTAGAGGAA 0.622000 Ichthyosis 61 387 0 0 1 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58596425 58596425 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:58596425C>A ENST00000240727.6 - 7 1559 c.1160G>T c.(1159-1161)aGc>aTc p.S387I ZSCAN18_ENST00000601144.1_Missense_Mutation_p.S387I|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.S251I|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.S443I NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 387 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GTCGCCGGAGCTAGAGACGCC 0.731000 5 15 5.9392e-07 8.50177e-07 1 1 0 TLL2 7093 broad.mit.edu 37 10 98130016 98130016 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:98130016G>T ENST00000357947.3 - 20 2944 c.2719C>A c.(2719-2721)Cag>Aag p.Q907K NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 907 CUB 5. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) TCCCCAAACTGGGCGTGGGAA 0.602000 OREG0020396 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 61 1.49906e-05 1.92643e-05 1 1 0 CEP350 9857 broad.mit.edu 37 1 180003076 180003076 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:180003076G>A ENST00000367607.3 + 16 4223 c.3805G>A c.(3805-3807)Gac>Aac p.D1269N NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 1269 Ser-rich. centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 ATTGCAGTTTGACGTTGCAGG 0.433000 11 112 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51317536 51317536 + Splice_Site SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:51317536G>A ENST00000266037.9 + 27 2846 c.e27-1 NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TTGGTCCCTAGGGCGAGTATG 0.537000 3 21 0 0 1 0 0 TUBB4A 10382 broad.mit.edu 37 19 6495352 6495352 + Silent SNP C C G rs144735419 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:6495352C>G ENST00000264071.2 - 4 1529 c.1158G>C c.(1156-1158)acG>acC p.T386T TUBB4A_ENST00000540257.1_Silent_p.T386T P04350 TBB4_HUMAN tubulin, beta 4A class IVa 386 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity GGAACATGGCCGTGAACTGCT 0.617000 40 194 0 0 1 0 0 GAL3ST4 79690 broad.mit.edu 37 7 99764146 99764146 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:99764146G>A ENST00000360039.4 - 3 800 c.408C>T c.(406-408)caC>caT p.H136H GAL3ST4_ENST00000411994.1_Intron|GAL3ST4_ENST00000426974.2_Intron|GAL3ST4_ENST00000413800.1_Silent_p.H136H|GAL3ST4_ENST00000423751.1_Intron NM_024637.4 NP_078913.3 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 136 cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGAACCTCATGTGGTGACAGA 0.592000 38 81 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94546251 94546251 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:94546251C>T ENST00000370225.3 - 8 968 c.882G>A c.(880-882)caG>caA p.Q294Q ABCA4_ENST00000535735.1_Silent_p.Q294Q NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 294 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) ACAGCAAGTCCTGCATACTCG 0.527000 15 57 0 0 1 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202407172 202407172 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:202407172G>T ENST00000480184.1 + 10 1610 c.1478G>T c.(1477-1479)tGg>tTg p.W493L PPP1R12B_ENST00000406302.3_Intron|PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000336894.4_Intron NM_001167857.1 NP_001161329.1 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B 493 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) GGGAGGGTATGGGGGAATTCC 0.408000 10 61 2.74318e-10 4.63869e-10 1 1 0 DOPEY1 23033 broad.mit.edu 37 6 83843957 83843957 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:83843957A>G ENST00000349129.2 + 19 3081 c.2821A>G c.(2821-2823)Aga>Gga p.R941G DOPEY1_ENST00000369739.3_Missense_Mutation_p.R932G|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R922G NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 941 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) GCATCTAACGAGAGATCTCCA 0.338000 10 36 0 0 1 0 0 OSBPL9 114883 broad.mit.edu 37 1 52238379 52238379 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:52238379G>T ENST00000371710.3 + 14 1390 c.1208G>T c.(1207-1209)gGa>gTa p.G403V OSBPL9_ENST00000337809.4_Missense_Mutation_p.G390V|OSBPL9_ENST00000361556.5_Missense_Mutation_p.G275V|OSBPL9_ENST00000462759.1_Missense_Mutation_p.G207V|OSBPL9_ENST00000435686.2_Missense_Mutation_p.G220V|OSBPL9_ENST00000486942.1_Missense_Mutation_p.G207V|OSBPL9_ENST00000531828.1_Missense_Mutation_p.G220V|OSBPL9_ENST00000447887.1_Missense_Mutation_p.G395V|OSBPL9_ENST00000453295.1_Missense_Mutation_p.G368V|OSBPL9_ENST00000530544.1_Missense_Mutation_p.G304V|OSBPL9_ENST00000428468.1_Missense_Mutation_p.G385V|OSBPL9_ENST00000371714.1_Missense_Mutation_p.G372V NM_024586.5|NM_148906.2 NP_078862.4|NP_683704.2 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 385 lipid transport lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1) 18 GTTAGACTTGGAATGGATCTT 0.453000 16 183 2.23348e-06 3.04435e-06 1 1 0 APOB 338 broad.mit.edu 37 2 21228652 21228652 + Missense_Mutation SNP A A C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:21228652A>C ENST00000233242.1 - 26 11215 c.11088T>G c.(11086-11088)atT>atG p.I3696M NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3696 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) GTCTCCTACCAATGCTGGTGG 0.418000 29 107 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103573716 103573716 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:103573716T>C ENST00000358392.2 - 1 336 c.19A>G c.(19-21)Agg>Ggg p.R7G COL11A1_ENST00000512756.1_Missense_Mutation_p.R7G|COL11A1_ENST00000370096.3_Missense_Mutation_p.R7G|COL11A1_ENST00000353414.4_Missense_Mutation_p.R7G NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 7 collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GTTTTCCACCTAGAGGACCAC 0.522000 6 22 0 0 1 0 0 OR2G2 81470 broad.mit.edu 37 1 247752243 247752243 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:247752243C>T ENST00000320065.1 + 1 582 c.582C>T c.(580-582)ggC>ggT p.G194G RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CTTGTGTGGGCACCACGTTTA 0.537000 23 157 0 0 1 0 0 BTBD11 121551 broad.mit.edu 37 12 108051303 108051303 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:108051303G>C ENST00000280758.5 + 17 3651 c.3123G>C c.(3121-3123)gaG>gaC p.E1041D BTBD11_ENST00000420571.2_Missense_Mutation_p.E922D|BTBD11_ENST00000494235.2_Missense_Mutation_p.E120D|BTBD11_ENST00000357167.4_Missense_Mutation_p.E578D NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 1041 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 GAGTCACAGAGCTCTCAGCAT 0.448000 7 65 0 0 1 0 0 CHST2 9435 broad.mit.edu 37 3 142841163 142841163 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:142841163C>A ENST00000309575.3 + 2 2889 c.1505C>A c.(1504-1506)cCc>cAc p.P502H NM_004267.4 NP_004258.2 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 502 inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 TGCTACCAGCCCATGGCCGTC 0.602000 7 48 8.12818e-05 9.91291e-05 1 1 0 MYF5 4617 broad.mit.edu 37 12 81112822 81112822 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:81112822G>A ENST00000228644.3 + 3 912 c.760G>A c.(760-762)Gtg>Atg p.V254M NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 254 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 TATCTATCATGTGCTATGAAC 0.473000 12 64 0 0 1 0 0 ARPC1A 10552 broad.mit.edu 37 7 98956026 98956026 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:98956026C>T ENST00000432884.2 + 9 1097 c.636C>T c.(634-636)agC>agT p.S212S ARPC1A_ENST00000262942.5_Silent_p.S259S|ARPC1A_ENST00000471960.1_3'UTR Q92747 ARC1A_HUMAN actin related protein 2/3 complex, subunit 1A, 41kDa 259 actin cytoskeleton organization|regulation of actin filament polymerization actin cytoskeleton|cytoplasm actin binding endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1) 19 all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258) STAD - Stomach adenocarcinoma(171;0.215) CAGAGAACAGCGTCGTGGCTG 0.488000 16 47 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65476013 65476013 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:65476013G>A ENST00000519389.1 + 17 3078 c.2899G>A c.(2899-2901)Gga>Aga p.G967R HEPH_ENST00000441993.2_Missense_Mutation_p.G916R|HEPH_ENST00000343002.2_Missense_Mutation_p.G913R|HEPH_ENST00000336279.5_Missense_Mutation_p.G646R|HEPH_ENST00000419594.1_Missense_Mutation_p.G724R|HEPH_ENST00000374727.3_Missense_Mutation_p.G916R Q9BQS7 HEPH_HUMAN hephaestin 913 Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 GCCCCATGGAGGACGGAGTGA 0.498000 13 67 0 0 1 0 0 ZNF841 284371 broad.mit.edu 37 19 52568435 52568435 + Silent SNP A A C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:52568435A>C ENST00000389534.4 - 7 3159 c.2700T>G c.(2698-2700)gcT>gcG p.A900A ZNF841_ENST00000359973.2_Silent_p.A476A|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Silent_p.A900A|ZNF841_ENST00000426391.2_Silent_p.A784A NM_001136499.1 NP_001129971.1 Q6ZN19 ZN841_HUMAN zinc finger protein 841 784 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|lung(3) 11 GGTTCTCTCCAGCATGTTTTA 0.373000 10 39 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75039156 75039156 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:75039156C>A ENST00000326665.5 - 14 2456 c.2238G>T c.(2236-2238)atG>atT p.M746I C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 746 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TTTCATCCACCATGAAATTCA 0.373000 13 64 0.105934 0.110712 1 1 0 FGFR1OP 11116 broad.mit.edu 37 6 167417874 167417874 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:167417874G>T ENST00000366847.3 + 5 654 c.423G>T c.(421-423)ggG>ggT p.G141G FGFR1OP_ENST00000349556.4_Silent_p.G141G NM_007045.2 NP_008976.1 O95684 FR1OP_HUMAN FGFR1 oncogene partner 141 G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation centrosome|cytosol|nucleus|perinuclear region of cytoplasm protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity large_intestine(2)|ovary(1)|stomach(1) 4 Breast(66;1.48e-05)|Ovarian(120;0.0607) OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231) AAGAAAAAGGGCCAACCACTG 0.373000 T FGFR1 """MPD, NHL""" 9 54 2.27111e-07 3.32483e-07 1 1 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296553 39296553 + Missense_Mutation SNP G G A rs73983172 by1000genomes TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:39296553G>A ENST00000345847.4 - 1 186 c.187C>T c.(187-189)Ccc>Tcc p.P63S NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 63 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 cagcagctgggacggcagcAG 0.667000 4 78 0 0 1 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51919275 51919275 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:51919275A>G ENST00000353836.5 - 5 1122 c.901T>C c.(901-903)Tgg>Cgg p.W301R SIGLEC10_ENST00000432469.2_Missense_Mutation_p.W218R|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.W243R|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.W243R|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.W301R|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.W253R|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.W301R NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 301 Ig-like C2-type 2. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) CTAGGGCCCCAGGGATGGGAC 0.667000 5 22 0 0 1 0 0 NPR2 4882 broad.mit.edu 37 9 35792873 35792873 + Silent SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:35792873A>G ENST00000342694.2 + 1 723 c.468A>G c.(466-468)ctA>ctG p.L156L NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 156 intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) TGGTGACACTACACGGGCACT 0.567000 22 87 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66213922 66213922 + Splice_Site SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:66213922C>A ENST00000273854.3 - 15 3109 c.e15-1 EPHA5_ENST00000511294.1_Splice_Site|EPHA5_ENST00000432638.2_Splice_Site|EPHA5_ENST00000354839.4_Splice_Site NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TTTTTCCTCCCTAAAATTGAA 0.388000 TSP Lung(17;0.13) 19 109 2.94398e-08 4.56687e-08 1 1 0 IL16 3603 broad.mit.edu 37 15 81517752 81517752 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:81517752C>A ENST00000394660.2 + 2 372 c.12C>A c.(10-12)caC>caA p.H4Q IL16_ENST00000302987.4_Missense_Mutation_p.H4Q NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 4 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 TGGAGTCGCACAGCCGCGCTG 0.547000 5 28 1.23904e-05 1.602e-05 1 1 0 HECTD4 283450 broad.mit.edu 37 12 112677017 112677017 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:112677017C>G ENST00000550722.1 - 34 5086 c.4691G>C c.(4690-4692)cGc>cCc p.R1564P HECTD4_ENST00000430131.2_Missense_Mutation_p.R1288P|HECTD4_ENST00000377560.5_Missense_Mutation_p.R1538P NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 AAGGCCACTGCGTACCAGGCA 0.512000 18 85 0 0 1 0 0 OR2L8 391190 broad.mit.edu 37 1 248113003 248113003 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:248113003C>G ENST00000357191.3 + 1 844 c.844C>G c.(844-846)Cca>Gca p.P282A OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CATCCTCACCCCAATGCTCAA 0.483000 17 148 0 0 1 0 0 ZNF37A 7587 broad.mit.edu 37 10 38404208 38404208 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:38404208G>T ENST00000351773.3 + 7 1058 c.228G>T c.(226-228)caG>caT p.Q76H ZNF37A_ENST00000479469.1_3'UTR|ZNF37A_ENST00000361085.4_Missense_Mutation_p.Q76H NM_001007094.2 NP_001007095.1 P17032 ZN37A_HUMAN zinc finger protein 37A 76 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Q76Q(2) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 TTCCAAGCCAGAGTCATCTGG 0.393000 9 29 5.4927e-09 8.74e-09 1 1 0 TRPA1 8989 broad.mit.edu 37 8 72935251 72935251 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:72935251G>T ENST00000262209.4 - 27 3457 c.3250C>A c.(3250-3252)Cat>Aat p.H1084N RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 1084 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) AAAGAACAATGGCTATCATCA 0.403000 16 83 0.0242445 0.0256819 1 1 0 TRPV6 55503 broad.mit.edu 37 7 142575695 142575695 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:142575695C>T ENST00000359396.3 - 2 458 c.213G>A c.(211-213)aaG>aaA p.K71K RP11-114L10.2_ENST00000438839.1_RNA NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 71 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) TCTGGTGCACCTTGCAATCCT 0.537000 10 83 0 0 1 0 0 FAM124B 79843 broad.mit.edu 37 2 225266188 225266188 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:225266188G>T ENST00000389874.3 - 1 523 c.298C>A c.(298-300)Cag>Aag p.Q100K FAM124B_ENST00000409685.3_Missense_Mutation_p.Q100K|FAM124B_ENST00000243806.2_Missense_Mutation_p.Q100K NM_024785.2 NP_079061.2 Q9H5Z6 F124B_HUMAN family with sequence similarity 124B 100 protein binding endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 16 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) CGAGTGTCCTGGGTGGGGTAG 0.587000 12 35 3.07112e-06 4.13291e-06 1 1 0 RYR2 6262 broad.mit.edu 37 1 237789102 237789102 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:237789102C>A ENST00000366574.2 + 40 6481 c.6164C>A c.(6163-6165)tCc>tAc p.S2055Y RYR2_ENST00000360064.6_Missense_Mutation_p.S2053Y|RYR2_ENST00000542537.1_Missense_Mutation_p.S2039Y NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2055 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.S2053Y(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCCAAAAAGTCCTGTAAGCAG 0.423000 8 36 0.27861 0.281457 1 1 0 CLEC18B 497190 broad.mit.edu 37 16 74447481 74447481 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:74447481G>A ENST00000339953.5 - 4 671 c.550C>T c.(550-552)Ccc>Tcc p.P184S NM_001011880.2 NP_001011880.2 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 184 extracellular region sugar binding endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GCTTACCCGGGGGAGTAGGCA 0.612000 7 131 0 0 1 0 0 MEI1 150365 broad.mit.edu 37 22 42172193 42172193 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr22:42172193G>T ENST00000401548.3 + 21 2672 c.2632G>T c.(2632-2634)Gtg>Ttg p.V878L MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_Missense_Mutation_p.V246L|MEI1_ENST00000540880.1_Missense_Mutation_p.V196L NM_152513.3 NP_689726.3 Q5TIA1 MEI1_HUMAN meiosis inhibitor 1 878 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 GGATATCCAAGTGGGCGGTCT 0.572000 12 48 2.27111e-07 3.32483e-07 1 1 0 LDLRAD3 143458 broad.mit.edu 37 11 36248807 36248807 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:36248807C>A ENST00000315571.5 + 5 648 c.627C>A c.(625-627)caC>caA p.H209Q LDLRAD3_ENST00000524419.1_Missense_Mutation_p.H199Q|LDLRAD3_ENST00000529759.1_3'UTR|LDLRAD3_ENST00000528989.1_Missense_Mutation_p.H160Q NM_174902.2 NP_777562.1 Q86YD5 LRAD3_HUMAN low density lipoprotein receptor class A domain containing 3 209 integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1) 28 all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177) all_hematologic(20;0.124) TGCCCGTGCACCGGCTGCAGC 0.612000 13 40 1.5842e-08 2.49402e-08 1 1 0 SRRM4 84530 broad.mit.edu 37 12 119568529 119568529 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:119568529C>A ENST00000267260.4 + 8 1049 c.661C>A c.(661-663)Cac>Aac p.H221N SRRM4_ENST00000537597.1_3'UTR NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 221 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 CCGCCGAAGGCACTCCCGCCG 0.662000 3 24 0.00909568 0.00987474 1 1 0 GALNT7 51809 broad.mit.edu 37 4 174216996 174216996 + Splice_Site SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:174216996T>A ENST00000265000.4 + 5 1048 c.e5+2 GALNT7_ENST00000512285.1_Splice_Site NM_017423.2 NP_059119.2 Q86SF2 GALT7_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9) 19 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199) TAAGGACAGGTAACATTACCT 0.403000 10 51 0 0 1 0 0 REG3A 5068 broad.mit.edu 37 2 79385824 79385824 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:79385824G>C ENST00000393878.1 - 2 402 c.148C>G c.(148-150)Cac>Gac p.H50D REG3A_ENST00000409839.3_Missense_Mutation_p.H50D|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.H50D NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 50 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding p.H50N(2) breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 GCATAGCAGTGGGAGCCATAG 0.567000 8 42 0 0 1 0 0 CSF2RA 1438 broad.mit.edu 37 X 1428394 1428394 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:1428394G>T ENST00000355432.3 + 11 1195 c.1046G>T c.(1045-1047)gGc>gTc p.G349V CSF2RA_ENST00000417535.2_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000381524.3_3'UTR|CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000361536.3_3'UTR NM_172246.2 NP_758449.1 P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 0 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) TGTAGGAATGGCATGGACATC 0.463000 24 150 4.7796e-09 7.63809e-09 1 1 0 TRBV10-1 28585 broad.mit.edu 37 7 142231813 142231813 + RNA SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:142231813C>A ENST00000390364.3 - 0 171 CACCTGCCTTCCTGTCTCTGT 0.493000 27 116 8.24728e-16 1.5967e-15 1 1 0 SOBP 55084 broad.mit.edu 37 6 107955117 107955117 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:107955117G>T ENST00000317357.5 + 6 1728 c.1069G>T c.(1069-1071)Gag>Tag p.E357* NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 357 Pro-rich. metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) CCCCATCAGCGAGACTCCAAA 0.632000 21 88 1.2644e-06 1.77399e-06 1 1 0 PCDHGA12 26025 broad.mit.edu 37 5 140812204 140812204 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:140812204G>T ENST00000252085.3 + 1 2020 c.1878G>T c.(1876-1878)gtG>gtT p.V626V PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGGCGAGGTGCGCACGGCGC 0.692000 18 112 8.04996e-18 1.58751e-17 1 1 0 UNC45B 146862 broad.mit.edu 37 17 33513327 33513327 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:33513327T>A ENST00000268876.5 + 20 2642 c.2545T>A c.(2545-2547)Tgg>Agg p.W849R UNC45B_ENST00000394570.2_Missense_Mutation_p.W847R|UNC45B_ENST00000378449.1_Missense_Mutation_p.W768R|UNC45B_ENST00000433649.1_Missense_Mutation_p.W847R|UNC45B_ENST00000591048.1_Missense_Mutation_p.W768R NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 849 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) GACAACCCAGTGGTTGGAGAT 0.562000 7 81 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86088162 86088162 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:86088162G>T ENST00000330753.4 + 2 1071 c.304G>T c.(304-306)Gaa>Taa p.E102* FLRT2_ENST00000554746.1_Nonsense_Mutation_p.E102* NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 102 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity p.E102K(1) NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) CCAACTGGACGAATTCCCCAT 0.468000 13 133 5.50884e-06 7.26833e-06 1 1 0 FLT4 2324 broad.mit.edu 37 5 180043473 180043473 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:180043473A>T ENST00000261937.6 - 23 3191 c.3113T>A c.(3112-3114)cTg>cAg p.L1038Q FLT4_ENST00000502649.1_Missense_Mutation_p.L1038Q|FLT4_ENST00000393347.3_Missense_Mutation_p.L1038Q NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 1038 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CCGAGCAGCCAGGTCTCTGTG 0.622000 7 52 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179701621 179701621 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:179701621C>A ENST00000295723.5 - 13 2656 c.2600G>T c.(2599-2601)tGg>tTg p.W867L CCDC141_ENST00000420890.2_Splice_Site_p.W1442_splice|CCDC141_ENST00000480419.1_5'UTR Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 867 Ig-like. protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) GGCTACCCACCATGTCAGTGT 0.413000 5 60 2.0095e-06 2.75169e-06 1 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43828102 43828102 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:43828102T>C ENST00000389420.3 - 19 2665 c.2666A>G c.(2665-2667)cAc>cGc p.H889R ADAMTS20_ENST00000553158.1_Missense_Mutation_p.H889R|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.H43R NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 889 TSP type-1 2. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) AAGTGGCAAGTGGTCACATTC 0.333000 3 6 0 0 1 0 0 OR8S1 341568 broad.mit.edu 37 12 48921775 48921775 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:48921775C>A ENST00000310194.1 + 2 969 c.969C>A c.(967-969)acC>acA p.T323T OR8S1_ENST00000551654.1_3'UTR NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 323 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T323T(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 CAGCCTTCACCGAAGGCCGCA 0.642000 3 27 6.4e-05 7.91768e-05 1 1 0 SERPINB7 8710 broad.mit.edu 37 18 61449763 61449763 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:61449763C>A ENST00000398019.2 + 2 482 c.157C>A c.(157-159)Cag>Aag p.Q53K SERPINB7_ENST00000540675.1_Missense_Mutation_p.Q53K|SERPINB7_ENST00000546027.1_Missense_Mutation_p.Q53K|SERPINB7_ENST00000336429.2_Missense_Mutation_p.Q53K NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 53 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) CTCCCTCTCTCAGATTGATAA 0.483000 5 95 0.014758 0.0158251 1 1 0 SPRR2E 6704 broad.mit.edu 37 1 153066119 153066119 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:153066119G>C ENST00000368751.1 - 2 183 c.109C>G c.(109-111)Cca>Gca p.P37A SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Missense_Mutation_p.P37A P22531 SPR2E_HUMAN small proline-rich protein 2E 37 3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P. keratinization cornified envelope|cytoplasm protein binding|structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 14 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TTTGGTGGTGGGCAGGGCTCA 0.627000 38 223 0 0 1 0 0 MAEL 84944 broad.mit.edu 37 1 166990361 166990361 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:166990361T>A ENST00000367872.4 + 11 1325 c.1081T>A c.(1081-1083)Tct>Act p.S361T MAEL_ENST00000367870.2_Missense_Mutation_p.S330T|MAEL_ENST00000491055.1_3'UTR NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 361 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 TCATTTCAACTCTTCTAATGA 0.363000 11 80 0 0 1 0 0 PBX1 5087 broad.mit.edu 37 1 164789390 164789390 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:164789390G>T ENST00000420696.2 + 7 1267 c.1079G>T c.(1078-1080)gGg>gTg p.G360V PBX1_ENST00000559240.1_Intron|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000540236.1_Missense_Mutation_p.G360V|PBX1_ENST00000540246.1_Missense_Mutation_p.G255V|PBX1_ENST00000560641.1_Missense_Mutation_p.G255V|PBX1_ENST00000367897.1_Intron NM_001204961.1|NM_001204963.1|NM_002585.3 NP_001191890.1|NP_001191892.1|NP_002576.1 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 360 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 TCTTACCAAGGGGCCCAGGTT 0.488000 T """TCF3, EWSR1""" """pre B-ALL, myoepithelioma""" 15 93 2.32078e-09 3.76969e-09 1 1 0 OR2M4 26245 broad.mit.edu 37 1 248402679 248402679 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:248402679C>A ENST00000306687.1 + 1 449 c.449C>A c.(448-450)aCc>aAc p.T150N NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GCTTCCTGGACCTTGGGGTCT 0.468000 23 210 1.10513e-12 2.02585e-12 1 1 0 CSNK2A1 1457 broad.mit.edu 37 20 480524 480524 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:480524C>A ENST00000217244.3 - 5 643 c.268G>T c.(268-270)Gga>Tga p.G90* CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000400217.1_De_novo_Start_OutOfFrame|CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.G90*|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.G90* NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 90 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) TTGGGACCTCCTCTCAAATTC 0.388000 15 171 1.3612e-06 1.90261e-06 1 1 0 ADAM12 8038 broad.mit.edu 37 10 128019079 128019079 + Splice_Site SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:128019079C>A ENST00000368679.4 - 2 398 c.e2-1 ADAM12_ENST00000368676.4_Splice_Site NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) AAGCTCACCCCTGAATCAAAA 0.443000 15 89 0.00316338 0.0035326 1 1 0 PLXNA2 5362 broad.mit.edu 37 1 208219331 208219331 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:208219331C>A ENST00000367033.3 - 18 4144 c.3387G>T c.(3385-3387)ttG>ttT p.L1129F NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 1129 IPT/TIG 3. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) TGTAAATTAGCAAGGATTGGA 0.512000 10 109 6.40141e-05 7.91768e-05 1 1 0 MAP7 9053 broad.mit.edu 37 6 136681912 136681912 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:136681912C>A ENST00000354570.3 - 13 2136 c.1726G>T c.(1726-1728)Gaa>Taa p.E576* MAP7_ENST00000544465.1_Nonsense_Mutation_p.E561*|MAP7_ENST00000438100.2_Nonsense_Mutation_p.E561*|MAP7_ENST00000432797.2_Nonsense_Mutation_p.E430*|MAP7_ENST00000454590.1_Nonsense_Mutation_p.E598* NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4 NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1 Q14244 MAP7_HUMAN microtubule-associated protein 7 576 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) TCTGCTTCTTCACGAACGCGA 0.572000 52 349 8.44121e-28 1.73624e-27 1 1 0 NHEJ1 79840 broad.mit.edu 37 2 219941074 219941074 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:219941074C>A ENST00000409720.1 - 7 918 c.919G>T c.(919-921)Gac>Tac p.D307Y NHEJ1_ENST00000356853.5_3'UTR Q9H9Q4 NHEJ1_HUMAN nonhomologous end-joining factor 1 0 B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation nonhomologous end joining complex|nucleus DNA binding|identical protein binding kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 12 Renal(207;0.0915) Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112) TTCTCCAAGTCCATCCTCAGC 0.488000 Non-homologous end-joining 4 60 0.014758 0.0158251 1 1 0 IP6K3 117283 broad.mit.edu 37 6 33695901 33695901 + Missense_Mutation SNP A A C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:33695901A>C ENST00000451316.1 - 4 911 c.376T>G c.(376-378)Tgg>Ggg p.W126G IP6K3_ENST00000293756.4_Missense_Mutation_p.W126G NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 126 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 GCATGCGGCCACTGGGCAAGG 0.667000 7 44 0 0 1 0 0 CPQ 10404 broad.mit.edu 37 8 97797370 97797370 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:97797370A>G ENST00000220763.5 + 2 455 c.245A>G c.(244-246)aAg>aGg p.K82R NM_016134.2 NP_057218.1 Q9Y646 PGCP_HUMAN carboxypeptidase Q 82 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity AGTGGCTCCAAGAACCTAGAA 0.483000 18 75 0 0 1 0 0 TERT 7015 broad.mit.edu 37 5 1293519 1293519 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:1293519G>A ENST00000310581.5 - 2 1539 c.1482C>T c.(1480-1482)ttC>ttT p.F494F TERT_ENST00000296820.5_Silent_p.F494F|TERT_ENST00000334602.6_Silent_p.F494F|TERT_ENST00000508104.2_Silent_p.F494F NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 494 QFP motif.|RNA-interacting domain 2.|Required for oligomerization. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CCAGGGAGATGAACTTCTTGG 0.662000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 5 30 0 0 1 0 0 COG7 91949 broad.mit.edu 37 16 23404669 23404669 + Splice_Site SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:23404669C>A ENST00000307149.5 - 15 2073 c.e15-1 COG7_ENST00000569635.1_Intron NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) ACTGCCCGATCTGAAACAAAA 0.473000 5 31 0.184627 0.187793 1 1 0 ARAP3 64411 broad.mit.edu 37 5 141049581 141049581 + Silent SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:141049581T>C ENST00000239440.4 - 15 2222 c.2157A>G c.(2155-2157)gcA>gcG p.A719A ARAP3_ENST00000508305.1_Silent_p.A621A|ARAP3_ENST00000513878.1_Silent_p.A381A NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 719 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding p.A719A(1) NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 TGTTTTCCGATGCAAACATTT 0.587000 9 49 0 0 1 0 0 KCNA3 3738 broad.mit.edu 37 1 111216333 111216333 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:111216333G>T ENST00000369769.2 - 1 1322 c.1099C>A c.(1099-1101)Cgc>Agc p.R367S NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 367 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) CTTACCAGGCGGATGACCCTC 0.587000 14 121 4.14922e-12 7.42254e-12 1 1 0 FAT4 79633 broad.mit.edu 37 4 126411546 126411546 + Silent SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:126411546G>C ENST00000394329.3 + 17 13582 c.13569G>C c.(13567-13569)ctG>ctC p.L4523L FAT4_ENST00000335110.5_Silent_p.L2764L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4523 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TCCTTAGCCTGATCCTGTGTA 0.537000 13 44 0 0 1 0 0 CD1D 912 broad.mit.edu 37 1 158152695 158152695 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:158152695G>T ENST00000368171.3 + 5 1134 c.635G>T c.(634-636)gGc>gTc p.G212V NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 212 Ig-like. antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding p.G212V(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) CTGTCCCGTGGCCCCAGTCCT 0.572000 13 119 0.00136819 0.0015572 1 1 0 COL6A6 131873 broad.mit.edu 37 3 130305378 130305378 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:130305378G>T ENST00000358511.6 + 10 4030 c.3999G>T c.(3997-3999)ctG>ctT p.L1333L COL6A6_ENST00000453409.2_Silent_p.L1333L NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1333 Nonhelical region.|VWFA 7. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CTGTTGCTCTGGATGGACCTG 0.423000 22 164 1.96895e-08 3.06717e-08 1 1 0 VNN2 8875 broad.mit.edu 37 6 133078932 133078932 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:133078932A>T ENST00000326499.6 - 1 215 c.91T>A c.(91-93)Tat>Aat p.Y31N VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525270.1_Intron|VNN2_ENST00000525289.1_Missense_Mutation_p.Y31N NM_004665.2 NP_004656.2 O95498 VNN2_HUMAN vanin 2 31 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) GCATGTTCATACACTGCAGCT 0.433000 19 109 0 0 1 0 0 GLB1 2720 broad.mit.edu 37 3 33063130 33063130 + Silent SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:33063130T>A ENST00000307363.5 - 12 1305 c.1161A>T c.(1159-1161)gcA>gcT p.A387A GLB1_ENST00000307377.8_Silent_p.A256A|GLB1_ENST00000445488.2_Silent_p.A435A|GLB1_ENST00000497796.1_5'UTR|GLB1_ENST00000399402.3_Silent_p.A357A NM_000404.2 NP_000395.2 P16278 BGAL_HUMAN galactosidase, beta 1 387 carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) TGTCCAGAGCTGCTCCCACTG 0.463000 6 24 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 124783286 124783286 + Missense_Mutation SNP A A C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:124783286A>C ENST00000431078.1 + 1 423 c.59A>C c.(58-60)cAt>cCt p.H20P CNTNAP5_ENST00000423939.2_3'UTR NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 20 cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GGCTTGTGGCATTTAGGATTA 0.502000 8 64 0 0 1 0 0 TUBB4A 10382 broad.mit.edu 37 19 6495336 6495336 + Nonsense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:6495336T>A ENST00000264071.2 - 4 1545 c.1174A>T c.(1174-1176)Aag>Tag p.K392* TUBB4A_ENST00000540257.1_Nonsense_Mutation_p.K392* P04350 TBB4_HUMAN tubulin, beta 4A class IVa 392 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity AAGAAGGCCTTGCGCCGGAAC 0.602000 33 190 0 0 1 0 0 ZNF575 284346 broad.mit.edu 37 19 44039424 44039424 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:44039424C>G ENST00000458714.2 + 5 1427 c.620C>G c.(619-621)gCc>gGc p.A207G ZNF575_ENST00000601282.1_Missense_Mutation_p.A108G|ZNF575_ENST00000314228.5_Missense_Mutation_p.A108G Q86XF7 ZN575_HUMAN zinc finger protein 575 108 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1) 4 Prostate(69;0.0199) AAGCTGGCAGCCCACCGCCTC 0.711000 6 19 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200955994 200955994 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:200955994A>G ENST00000332129.2 - 26 3983 c.3667T>C c.(3667-3669)Tac>Cac p.Y1223H KIF21B_ENST00000360529.5_Missense_Mutation_p.Y1223H|KIF21B_ENST00000461742.2_Missense_Mutation_p.Y1223H|KIF21B_ENST00000422435.2_Missense_Mutation_p.Y1223H NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1223 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CCTCGGTCGTAGGACTTCCTT 0.537000 11 74 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71491580 71491580 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:71491580G>T ENST00000296755.7 + 5 2696 c.2398G>T c.(2398-2400)Ggc>Tgc p.G800C NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 800 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TGCAGCTGTCGGCACTGGAGC 0.542000 15 72 7.93312e-07 1.11515e-06 1 1 0 KRBA1 84626 broad.mit.edu 37 7 149430453 149430453 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:149430453C>A ENST00000255992.10 + 18 2806 c.2407C>A c.(2407-2409)Cac>Aac p.H803N KRBA1_ENST00000319551.8_Missense_Mutation_p.H743N|KRBA1_ENST00000485033.2_Missense_Mutation_p.H743N|KRBA1_ENST00000479560.1_3'UTR NM_032534.2 NP_115923.2 A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 804 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCAGGAGCTGCACAGCCTCGG 0.687000 5 40 5.9392e-07 8.50177e-07 1 1 0 SH3GL3 6457 broad.mit.edu 37 15 84237387 84237387 + Silent SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:84237387G>C ENST00000324537.5 + 7 810 c.318G>C c.(316-318)ctG>ctC p.L106L SH3GL3_ENST00000427482.2_Silent_p.L98L|SH3GL3_ENST00000434347.1_Silent_p.L106L|SH3GL3_ENST00000535412.1_Silent_p.L98L Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 98 BAR. central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 ACTGTATGCTGAAATACGGGA 0.527000 9 60 0 0 1 0 0 GALNT8 26290 broad.mit.edu 37 12 4870123 4870123 + Splice_Site SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:4870123G>C ENST00000252318.2 + 7 1510 c.e7-1 NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 TTCTTCTGCAGGTGTGGCAGT 0.488000 14 47 0 0 1 0 0 PCDHB15 56121 broad.mit.edu 37 5 140626974 140626974 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:140626974A>T ENST00000231173.3 + 1 1828 c.1828A>T c.(1828-1830)Acg>Tcg p.T610S NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 610 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTCAAGGCCACGGAGCCCGG 0.716000 16 52 0 0 1 0 0 KAT2A 2648 broad.mit.edu 37 17 40269976 40269976 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:40269976C>A ENST00000225916.5 - 8 1293 c.1240G>T c.(1240-1242)Ggc>Tgc p.G414C NM_021078.2 NP_066564.2 Q92830 KAT2A_HUMAN K(lysine) acetyltransferase 2A 414 chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 CTGTTGCTGCCCCCACCCATG 0.602000 4 39 1.23904e-05 1.602e-05 1 1 0 MC5R 4161 broad.mit.edu 37 18 13826139 13826139 + Silent SNP C C G rs45613135 byFrequency TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:13826139C>G ENST00000324750.3 + 1 597 c.375C>G c.(373-375)tcC>tcG p.S125S NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 125 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 TCTGCATTTCCGTGGTGGCAT 0.522000 12 103 0 0 1 0 0 C1orf210 149466 broad.mit.edu 37 1 43748661 43748661 + Missense_Mutation SNP A A C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:43748661A>C ENST00000523677.1 - 3 370 c.137T>G c.(136-138)cTc>cGc p.L46R C1orf210_ENST00000423420.1_Missense_Mutation_p.L46R NM_001164829.1|NM_182517.2 NP_001158301.1|NP_872323.1 Q8IVY1 CA210_HUMAN chromosome 1 open reading frame 210 46 integral to membrane breast(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TGCAATGAGGAGCGAGAGGAC 0.667000 6 29 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237711811 237711811 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:237711811T>C ENST00000366574.2 + 26 3304 c.2987T>C c.(2986-2988)gTg>gCg p.V996A RYR2_ENST00000360064.6_Missense_Mutation_p.V994A|RYR2_ENST00000542537.1_Missense_Mutation_p.V980A NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 996 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding 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) GAAGCAATGGTGGACAAGTTG 0.483000 15 40 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34028461 34028461 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:34028461C>A ENST00000389232.4 + 49 7520 c.7450C>A c.(7450-7452)Caa>Aaa p.Q2484K RYR3_ENST00000415757.3_Missense_Mutation_p.Q2484K NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2484 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CATGTTACAGCAACTCCTGCG 0.373000 4 24 0.150653 0.154188 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113812480 113812480 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:113812480T>A ENST00000297405.5 - 13 2127 c.1883A>T c.(1882-1884)gAc>gTc p.D628V CSMD3_ENST00000343508.3_Missense_Mutation_p.D588V|CSMD3_ENST00000455883.2_Missense_Mutation_p.D524V|CSMD3_ENST00000352409.3_Missense_Mutation_p.D628V NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 628 CUB 3. 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 CACTATCAAGTCTGGTACAAA 0.398000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 15 68 0 0 1 0 0 C1orf87 127795 broad.mit.edu 37 1 60456410 60456410 + Missense_Mutation SNP G G T rs41301090 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:60456410G>T ENST00000371201.3 - 12 1683 c.1576C>A c.(1576-1578)Cgc>Agc p.R526S C1orf87_ENST00000395552.1_Missense_Mutation_p.R160S|C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Missense_Mutation_p.R297S NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 526 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 CGGAATCTGCGCAAGGCCTGG 0.488000 23 252 1.66031e-10 2.8269e-10 1 1 0 TLL1 7092 broad.mit.edu 37 4 166964480 166964480 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:166964480A>T ENST00000061240.2 + 12 2080 c.1433A>T c.(1432-1434)tAt>tTt p.Y478F TLL1_ENST00000507499.1_Missense_Mutation_p.Y478F NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 478 CUB 2. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TCTCCCAATTATCCTGATGAC 0.428000 33 123 0 0 1 0 0 MAD1L1 8379 broad.mit.edu 37 7 2260537 2260537 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:2260537C>A ENST00000402746.1 - 3 374 c.177G>T c.(175-177)tgG>tgT p.W59C MAD1L1_ENST00000399654.2_Intron|MAD1L1_ENST00000406869.1_Intron|MAD1L1_ENST00000265854.7_Intron Q9Y6D9 MD1L1_HUMAN MAD1 mitotic arrest deficient-like 1 (yeast) 0 R -> C (in a prostate cancer cell line; somatic mutation; dbSNP:rs28939694). cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5) 36 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) AGGGGCAAGGCCAGATGCAGG 0.507000 3 23 0.00024832 0.000296266 1 1 0 CASS4 57091 broad.mit.edu 37 20 55012503 55012503 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:55012503C>A ENST00000371336.3 + 2 521 c.320C>A c.(319-321)cCc>cAc p.P107H CASS4_ENST00000360314.3_Missense_Mutation_p.P107H|CASS4_ENST00000434344.1_Missense_Mutation_p.P107H NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 107 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 CCCCGCCCTCCCACTCCAGGC 0.647000 11 70 1.58986e-06 2.19736e-06 1 1 0 UNC13C 440279 broad.mit.edu 37 15 54914577 54914577 + Silent SNP T T G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:54914577T>G ENST00000545554.1 + 30 6159 c.6159T>G c.(6157-6159)acT>acG p.T2053T UNC13C_ENST00000537900.1_Silent_p.T2051T|UNC13C_ENST00000260323.11_Silent_p.T2053T|UNC13C_ENST00000539562.2_5'UTR Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 2053 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TGGACATCACTGCCACCCCAG 0.438000 12 90 0 0 1 0 0 IL12RB1 3594 broad.mit.edu 37 19 18191740 18191740 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:18191740C>T ENST00000600835.1 - 5 614 c.311G>A c.(310-312)gGg>gAg p.G104E IL12RB1_ENST00000593993.1_Missense_Mutation_p.G104E|IL12RB1_ENST00000430026.2_Missense_Mutation_p.G104E|IL12RB1_ENST00000322153.6_Missense_Mutation_p.G104E P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 104 Fibronectin type-III 1. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 CACAGACACCCCAGCCTGGTC 0.622000 11 56 0 0 1 0 0 MTCH1 23787 broad.mit.edu 37 6 36946279 36946279 + Splice_Site SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:36946279A>T ENST00000373627.5 - 3 638 c.e3+1 MTCH1_ENST00000538808.1_Splice_Site|MTCH1_ENST00000373616.5_Splice_Site NM_001271641.1 NP_001258570.1 Q9NZJ7 MTCH1_HUMAN mitochondrial carrier 1 activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport integral to membrane|mitochondrial inner membrane protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 6 GTGTGGGCTCACCTTCTTCAT 0.587000 17 66 0 0 1 0 0 DYRK4 8798 broad.mit.edu 37 12 4705767 4705767 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:4705767G>T ENST00000540757.2 + 6 592 c.432G>T c.(430-432)caG>caT p.Q144H DYRK4_ENST00000010132.5_Missense_Mutation_p.Q144H|DYRK4_ENST00000543431.1_Missense_Mutation_p.Q144H NM_003845.1 NP_003836.1 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 144 Protein kinase. Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(7;0.103) TTCACCAGCAGGCCCTGATGG 0.522000 5 25 3.59834e-05 4.51849e-05 1 1 0 HRH3 11255 broad.mit.edu 37 20 60791200 60791200 + Silent SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:60791200G>C ENST00000340177.5 - 3 1484 c.1200C>G c.(1198-1200)ctC>ctG p.L400L HRH3_ENST00000317393.6_Silent_p.L400L NM_007232.2 NP_009163.2 Q9Y5N1 HRH3_HUMAN histamine receptor H3 400 G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion integral to plasma membrane histamine receptor activity breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 9 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;7.08e-07) Histamine Phosphate(DB00667) TGGCCCACAGGAGCCAGAAGG 0.622000 6 21 0 0 1 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52724342 52724342 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:52724342G>T ENST00000322088.6 + 12 1532 c.1474G>T c.(1474-1476)Gac>Tac p.D492Y PPP2R1A_ENST00000462990.1_Missense_Mutation_p.D313Y|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.D437Y NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 492 PP2A subunit C binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) CATGTCCGGAGACCCCAACTA 0.592000 Mis clear cell ovarian carcinoma 25 102 1.55469e-16 3.02574e-16 1 1 0 SOX30 11063 broad.mit.edu 37 5 157073663 157073663 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:157073663G>T ENST00000265007.6 - 3 1710 c.1369C>A c.(1369-1371)Ccc>Acc p.P457T SOX30_ENST00000311371.5_Missense_Mutation_p.P457T|SOX30_ENST00000519442.1_Missense_Mutation_p.P152T NM_178424.1 NP_848511.1 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 457 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGAGTGATGGGATTCTGTAGG 0.363000 19 121 1.96292e-10 3.32308e-10 1 1 0 CRHBP 1393 broad.mit.edu 37 5 76251488 76251488 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:76251488G>T ENST00000274368.4 + 4 766 c.344G>T c.(343-345)gGt>gTt p.G115V CRHBP_ENST00000506501.1_Missense_Mutation_p.G115V NM_001882.3 NP_001873.2 P24387 CRHBP_HUMAN corticotropin releasing hormone binding protein 115 female pregnancy|learning or memory|signal transduction soluble fraction kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) GTATTTGATGGTTGGATTCTC 0.458000 4 38 0.00909568 0.00987474 1 1 0 OTUD7A 161725 broad.mit.edu 37 15 31776743 31776743 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:31776743G>T ENST00000382902.1 - 11 1648 c.1556C>A c.(1555-1557)tCc>tAc p.S519Y OTUD7A_ENST00000307050.4_Missense_Mutation_p.S512Y Q8TE49 OTU7A_HUMAN OTU domain containing 7A 512 cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) GTTGGCCACGGAGTCGGCGCG 0.592000 6 27 2.0095e-06 2.75169e-06 1 1 0 MSH2 4436 broad.mit.edu 37 2 47693845 47693845 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:47693845G>T ENST00000406134.1 + 10 1621 c.1559G>T c.(1558-1560)gGa>gTa p.G520V MSH2_ENST00000543555.1_Missense_Mutation_p.G454V|MSH2_ENST00000233146.2_Missense_Mutation_p.G520V P43246 MSH2_HUMAN mutS homolog 2 520 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.0?(2)|p.?(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GCACAGTTTGGATATTACTTT 0.343000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 15 67 3.27435e-08 5.04244e-08 1 1 0 NIPAL4 348938 broad.mit.edu 37 5 156899946 156899946 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:156899946A>T ENST00000311946.7 + 6 1495 c.1379A>T c.(1378-1380)aAa>aTa p.K460I NIPAL4_ENST00000435489.2_Missense_Mutation_p.K441I|ADAM19_ENST00000430702.2_Intron NM_001099287.1 NP_001092757.1 Q0D2K0 NIPA4_HUMAN NIPA-like domain containing 4 460 integral to membrane receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1) 22 GAGAAACCCAAAGTATTTATA 0.458000 5 37 0 0 1 0 0 BBOX1 8424 broad.mit.edu 37 11 27114844 27114844 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:27114844C>G ENST00000263182.3 + 5 832 c.464C>G c.(463-465)gCa>gGa p.A155G BBOX1_ENST00000525090.1_Missense_Mutation_p.A155G|BBOX1_ENST00000529202.1_Missense_Mutation_p.A155G|BBOX1_ENST00000528583.1_Missense_Mutation_p.A155G|RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000527505.1_Intron|RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000530430.1_RNA NM_003986.2 NP_003977.1 O75936 BODG_HUMAN butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 155 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 23 Succinic acid(DB00139)|Vitamin C(DB00126) CTCACCGGAGCATCTGACAAA 0.418000 20 81 0 0 1 0 0 CPZ 8532 broad.mit.edu 37 4 8603010 8603010 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:8603010C>A ENST00000360986.4 + 3 456 c.282C>A c.(280-282)aaC>aaA p.N94K CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.N83K|CPZ_ENST00000382480.2_5'UTR NM_001014447.2 NP_001014447.1 Q66K79 CBPZ_HUMAN carboxypeptidase Z 94 FZ. proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GCCAGTGCAACCCGGACCTGC 0.687000 7 32 0.0293803 0.0309453 1 1 0 SLIT2 9353 broad.mit.edu 37 4 20482357 20482357 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:20482357G>T ENST00000504154.1 + 6 738 c.486G>T c.(484-486)caG>caT p.Q162H SLIT2_ENST00000273739.5_Missense_Mutation_p.Q162H|SLIT2_ENST00000503837.1_Missense_Mutation_p.Q162H|SLIT2_ENST00000503823.1_Missense_Mutation_p.Q162H NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 162 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 ATTACAACCAGATCAGCTGTA 0.453000 22 118 1.55469e-16 3.02574e-16 1 1 0 ZNF711 7552 broad.mit.edu 37 X 84526150 84526150 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:84526150G>T ENST00000360700.4 + 10 2626 c.1740G>T c.(1738-1740)caG>caT p.Q580H ZNF711_ENST00000373165.3_Missense_Mutation_p.Q534H|ZNF711_ENST00000542798.1_Missense_Mutation_p.Q376H|ZNF711_ENST00000395402.1_Missense_Mutation_p.Q542H|ZNF711_ENST00000276123.3_Missense_Mutation_p.Q534H Q9Y462 ZN711_HUMAN zinc finger protein 711 534 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 AGCCATATCAGTGTCAGTATT 0.373000 11 35 0.010729 0.0116225 1 1 0 MED12L 116931 broad.mit.edu 37 3 151129238 151129238 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:151129238G>T ENST00000474524.1 + 39 6016 c.5978G>T c.(5977-5979)aGt>aTt p.S1993I MED12L_ENST00000273432.4_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1993 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CAGCAGCCGAGTGGCTATGTT 0.537000 11 98 7.93312e-07 1.11515e-06 1 1 0 IGHV3OR16-9 28307 broad.mit.edu 37 16 33647408 33647408 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:33647408C>A ENST00000558425.1 - 2 191 c.192G>T c.(190-192)ctG>ctT p.L64L AAATCCACTCCAGTCCCTTCC 0.532000 50 298 1.83081e-24 3.74495e-24 1 1 0 COL11A1 1301 broad.mit.edu 37 1 103400050 103400050 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:103400050C>T ENST00000358392.2 - 46 3908 c.3591G>A c.(3589-3591)gaG>gaA p.E1197E COL11A1_ENST00000512756.1_Silent_p.E1069E|COL11A1_ENST00000370096.3_Silent_p.E1185E|COL11A1_ENST00000353414.4_Silent_p.E1146E NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1185 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTCTGGCACCCTCATCACCTT 0.473000 13 93 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24507633 24507633 + Splice_Site SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:24507633T>A ENST00000355123.4 - 17 2386 c.1944_splice c.e17+1 p.K648_splice ITSN2_ENST00000361999.3_Intron|ITSN2_ENST00000406921.3_Splice_Site_p.K648_splice NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 648 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAAAATAACCTTAAGTAAGAG 0.333000 13 73 0 0 1 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105360819 105360819 + Silent SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:105360819T>C ENST00000297581.2 + 2 88 c.39T>C c.(37-39)agT>agC p.S13S DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Silent_p.S13S NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 13 osteoclast differentiation cell surface|integral to membrane|plasma membrane TCTTCCTAAGTCTTTGGGAGA 0.458000 11 82 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130368298 130368298 + Silent SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:130368298C>G ENST00000358511.6 + 32 5656 c.5625C>G c.(5623-5625)tcC>tcG p.S1875S COL6A6_ENST00000453409.2_Silent_p.S1875S NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1875 Nonhelical region.|VWFA 8. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GCGGTCAGTCCGCGGATGCCC 0.572000 7 17 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13602464 13602464 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:13602464T>A ENST00000040738.5 - 10 6195 c.6060A>T c.(6058-6060)gaA>gaT p.E2020D NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2020 DNA binding TGTGAGCAACTTCACATTCTG 0.458000 6 26 0 0 1 0 0 CORIN 10699 broad.mit.edu 37 4 47625740 47625740 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:47625740G>T ENST00000273857.4 - 19 2387 c.2388C>A c.(2386-2388)gcC>gcA p.A796A CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000502252.1_Silent_p.A729A|CORIN_ENST00000508498.1_Silent_p.A657A|CORIN_ENST00000505909.1_Silent_p.A759A NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 796 SRCR. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 TGTTCATTCGGGCAGCAGGGC 0.532000 15 81 7.93312e-07 1.11515e-06 1 1 0 DNAJC17 55192 broad.mit.edu 37 15 41067249 41067249 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:41067249G>A ENST00000220496.4 - 8 610 c.580C>T c.(580-582)Ctc>Ttc p.L194F NM_018163.2 NP_060633.1 Q9NVM6 DJC17_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 17 194 RRM. protein folding heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1) 6 all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) AGCCGTAGGAGGACGTCTTTG 0.498000 13 53 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30490510 30490510 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:30490510G>T ENST00000356798.6 + 5 606 c.426G>T c.(424-426)caG>caT p.Q142H RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_Missense_Mutation_p.Q142H|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Intron NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 142 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) CCATGCTGCAGGGGCGCCCTG 0.557000 11 73 3.07112e-06 4.13291e-06 1 1 0 OR6K2 81448 broad.mit.edu 37 1 158670015 158670015 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:158670015A>T ENST00000359610.2 - 1 471 c.428T>A c.(427-429)cTg>cAg p.L143Q NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) ACTTAAAGTCAGTTGGGTACA 0.468000 15 95 0 0 1 0 0 ZNF664 144348 broad.mit.edu 37 12 124496713 124496713 + Missense_Mutation SNP T T G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:124496713T>G ENST00000539644.1 + 6 1852 c.22T>G c.(22-24)Tgt>Ggt p.C8G ZNF664_ENST00000538932.2_Missense_Mutation_p.C8G|RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000392404.3_Missense_Mutation_p.C8G|ZNF664_ENST00000337815.4_Missense_Mutation_p.C8G Q8N3J9 ZN664_HUMAN zinc finger protein 664 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(5)|lung(6)|skin(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249) GTGCCCCATGTGTAGGGAATT 0.363000 14 84 0 0 1 0 0 SULF1 23213 broad.mit.edu 37 8 70488288 70488288 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:70488288A>T ENST00000260128.4 + 6 973 c.256A>T c.(256-258)Atg>Ttg p.M86L SULF1_ENST00000419716.3_Missense_Mutation_p.M86L|SULF1_ENST00000458141.2_Missense_Mutation_p.M86L|SULF1_ENST00000402687.4_Missense_Mutation_p.M86L NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 86 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) GACTACACCCATGTGCTGCCC 0.537000 13 44 0 0 1 0 0 SAMD4A 23034 broad.mit.edu 37 14 55236906 55236906 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:55236906C>A ENST00000251091.5 + 7 1722 c.1417C>A c.(1417-1419)Ctt>Att p.L473I SAMD4A_ENST00000392067.3_Missense_Mutation_p.L561I|SAMD4A_ENST00000554335.1_Missense_Mutation_p.L561I|SAMD4A_ENST00000357634.3_Missense_Mutation_p.L560I|SAMD4A_ENST00000555192.1_Missense_Mutation_p.L152I NM_001161576.2 NP_001155048.2 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4A 561 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1) 29 TCGGAAAACCCTTCTAGACAT 0.443000 21 102 1.28384e-07 1.91158e-07 1 1 0 RPL7A 6130 broad.mit.edu 37 9 136217159 136217159 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:136217159C>T ENST00000323345.6 + 5 510 c.480C>T c.(478-480)gaC>gaT p.D160D RPL7A_ENST00000315731.4_Silent_p.D45D|RPL7A_ENST00000463740.1_3'UTR NM_000972.2 NP_000963.1 P62424 RL7A_HUMAN ribosomal protein L7a 160 endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome RNA binding|structural constituent of ribosome cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05) TTGCACACGACGTGGATCCCA 0.527000 4 32 0 0 1 0 0 SERPINA6 866 broad.mit.edu 37 14 94770832 94770832 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:94770832G>T ENST00000341584.3 - 5 1287 c.1141C>A c.(1141-1143)Cag>Aag p.Q381K NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 381 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) ATGAAGGGCTGGTTGAAACGC 0.537000 6 61 8.12818e-05 9.91291e-05 1 1 0 PCDHA8 56140 broad.mit.edu 37 5 140222311 140222311 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:140222311C>A ENST00000531613.1 + 1 1405 c.1405C>A c.(1405-1407)Ccg>Acg p.P469T PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P469T|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGAACAACCCGCCGGGCTG 0.672000 11 102 0.0809354 0.0847051 1 1 0 ATRNL1 26033 broad.mit.edu 37 10 117228684 117228684 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:117228684G>T ENST00000355044.3 + 24 3625 c.3499G>T c.(3499-3501)Gga>Tga p.G1167* ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Nonsense_Mutation_p.G218* NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 1167 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CATTTTAGCTGGAACAATATC 0.219000 10 46 0.00621372 0.00683601 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113267542 113267542 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:113267542G>T ENST00000297405.5 - 62 10221 c.9977C>A c.(9976-9978)tCa>tAa p.S3326* CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S3286*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S3157*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S3256* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3326 Sushi 26. 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 TCTGGTGCTTGATCCCACTAA 0.408000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 13 68 2.31682e-05 2.94417e-05 1 1 0 FLT3 2322 broad.mit.edu 37 13 28644627 28644627 + Splice_Site SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr13:28644627C>A ENST00000380982.4 - 2 247 c.e2+1 FLT3_ENST00000241453.7_Splice_Site|FLT3_ENST00000537084.1_Splice_Site P36888 FLT3_HUMAN fms-related tyrosine kinase 3 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TGTTACTTTACCATGGGATAT 0.343000 """Mis, O""" """AML, ALL""" 15 94 0.000566183 0.00066323 1 1 0 OXER1 165140 broad.mit.edu 37 2 42990807 42990807 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:42990807C>T ENST00000378661.2 - 1 594 c.513G>A c.(511-513)atG>atA p.M171I NM_148962.4 NP_683765.1 Q8TDS5 OXER1_HUMAN oxoeicosanoid (OXE) receptor 1 171 regulation of cAMP biosynthetic process integral to membrane|plasma membrane 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10 TGGTGGACAGCATGAAGAGGT 0.607000 6 24 0 0 1 0 0 CLCN6 1185 broad.mit.edu 37 1 11897516 11897516 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:11897516C>A ENST00000346436.6 + 20 2307 c.2255C>A c.(2254-2256)aCc>aAc p.T752N CLCN6_ENST00000376487.3_Missense_Mutation_p.T730N|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.T752N NM_001286.3 NP_001277.1 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 752 cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) CAGCTTGTCACCCTGCTTGTC 0.582000 11 58 0.00829132 0.00910817 1 1 0 FGF23 8074 broad.mit.edu 37 12 4479626 4479626 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:4479626G>A ENST00000237837.1 - 3 784 c.639C>T c.(637-639)gcC>gcT p.A213A NM_020638.2 NP_065689.1 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 213 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 22 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) TGTTGTCCTCGGCGCTCGGGA 0.721000 6 30 0 0 1 0 0 MFSD8 256471 broad.mit.edu 37 4 128842778 128842778 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:128842778G>A ENST00000296468.3 - 12 1378 c.1251C>T c.(1249-1251)gcC>gcT p.A417A MFSD8_ENST00000513559.1_Silent_p.A372A|MFSD8_ENST00000515130.1_5'UTR NM_152778.2 NP_689991.1 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 8 417 cell death|transmembrane transport integral to membrane|lysosomal membrane cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1) 23 TAAGGAACTGGGCCAGATGAA 0.443000 14 73 0 0 1 0 0 CES5A 221223 broad.mit.edu 37 16 55895369 55895369 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:55895369C>A ENST00000521992.1 - 8 1102 c.957G>T c.(955-957)agG>agT p.R319S CES5A_ENST00000518005.1_Missense_Mutation_p.R184S|CES5A_ENST00000319165.9_Missense_Mutation_p.R290S|CES5A_ENST00000290567.9_Missense_Mutation_p.R290S|CES5A_ENST00000520435.1_Missense_Mutation_p.R260S|CES5A_ENST00000541580.1_5'UTR NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 290 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 TCCTCAGGCACCTCAGCAGGG 0.547000 7 35 0.00307968 0.00344432 1 1 0 NCKAP5L 57701 broad.mit.edu 37 12 50186268 50186268 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:50186268G>C ENST00000335999.6 - 12 3954 c.3753C>G c.(3751-3753)tgC>tgG p.C1251W NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 1247 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 GTCGGGGTGGGCACATGAGAG 0.637000 4 29 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136600952 136600952 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:136600952T>A ENST00000531224.1 - 3 305 c.53A>T c.(52-54)cAg>cTg p.Q18L BCLAF1_ENST00000392348.2_Missense_Mutation_p.Q18L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.Q18L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.Q18L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.Q18L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.Q18L NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 18 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) AGAACTAGACTGTGATCTAGA 0.313000 6 74 0 0 1 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89102387 89102387 + RNA SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:89102387G>A ENST00000393525.3 + 0 2861 AGTCAAGTATGTATGCAACTT 0.368000 4 10 0 0 1 0 0 ZNF366 167465 broad.mit.edu 37 5 71756846 71756846 + Missense_Mutation SNP C C A rs142702552 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:71756846C>A ENST00000318442.5 - 2 968 c.478G>T c.(478-480)Gtg>Ttg p.V160L NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 160 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) TGGGGCCACACGGCGCTGGGC 0.617000 9 127 0.000274275 0.00032488 1 1 0 PALLD 23022 broad.mit.edu 37 4 169606711 169606711 + Splice_Site SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:169606711G>T ENST00000335742.7 + 6 1546 c.e6+1 PALLD_ENST00000505667.1_Splice_Site|PALLD_ENST00000333488.4_Splice_Site|PALLD_ENST00000261509.6_Splice_Site|PALLD_ENST00000512127.1_Splice_Site Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) TTTTACAAAGGTCTGACATCT 0.403000 Pancreatic Cancer, Familial Clustering of 18 115 4.96729e-08 7.61001e-08 1 1 0 DHX8 1659 broad.mit.edu 37 17 41590792 41590792 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:41590792G>T ENST00000262415.3 + 17 2637 c.2565G>T c.(2563-2565)gtG>gtT p.V855V DHX8_ENST00000540306.1_Silent_p.V855V NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 855 Helicase C-terminal. catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) ACTATGTGGTGGACCCAGGAT 0.493000 16 100 4.14922e-12 7.42254e-12 1 1 0 C1orf110 339512 broad.mit.edu 37 1 162829310 162829310 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:162829310C>T ENST00000367912.1 - 2 301 c.127G>A c.(127-129)Gtg>Atg p.V43M C1orf110_ENST00000367910.1_Missense_Mutation_p.V43M|C1orf110_ENST00000367911.2_Missense_Mutation_p.V39M Q86UF4 CA110_HUMAN chromosome 1 open reading frame 110 43 endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 12 AGCAATTTCACATGGTAGAGG 0.488000 6 34 0 0 1 0 0 TNFAIP6 7130 broad.mit.edu 37 2 152220477 152220477 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:152220477C>G ENST00000243347.3 + 2 190 c.115C>G c.(115-117)Cac>Gac p.H39D NM_007115.3 NP_009046.2 P98066 TSG6_HUMAN tumor necrosis factor, alpha-induced protein 6 39 Link. cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.131) CGGTGTGTACCACAGAGAAGC 0.498000 5 44 0 0 1 0 0 PIBF1 10464 broad.mit.edu 37 13 73482668 73482668 + Splice_Site SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr13:73482668G>T ENST00000326291.6 + 12 1826 c.e12-1 NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) TTCACTATTAGGTTTTAACCA 0.348000 5 26 1.06961e-07 1.61367e-07 1 1 0 ADAMTS16 170690 broad.mit.edu 37 5 5318377 5318377 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:5318377C>A ENST00000274181.7 + 22 3680 c.3542C>A c.(3541-3543)cCc>cAc p.P1181H NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 1181 TSP type-1 6. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 CACTTCTGCCCCATTGCAGAG 0.642000 3 18 0.115264 0.119286 1 1 0 RABEP1 9135 broad.mit.edu 37 17 5250193 5250193 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:5250193G>T ENST00000262477.6 + 6 981 c.757G>T c.(757-759)Gag>Tag p.E253* RABEP1_ENST00000341923.6_Nonsense_Mutation_p.E253*|RABEP1_ENST00000546142.2_Nonsense_Mutation_p.E253*|RABEP1_ENST00000537505.1_Nonsense_Mutation_p.E210*|RABEP1_ENST00000408982.2_Nonsense_Mutation_p.E253* NM_004703.4 NP_004694.2 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 253 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 GGAAGATGCTGAGAAACTGCG 0.328000 6 36 0.00116845 0.00133498 1 1 0 SNX27 81609 broad.mit.edu 37 1 151634641 151634641 + Splice_Site SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:151634641G>T ENST00000368843.3 + 5 921 c.e5-1 SNX27_ENST00000368838.1_Splice_Site|SNX27_ENST00000458013.2_Splice_Site NM_030918.5 NP_112180.4 Q96L92 SNX27_HUMAN sorting nexin family member 27 cell communication|protein transport|signal transduction cytosol|early endosome phosphatidylinositol binding|protein binding central_nervous_system(1)|large_intestine(2)|ovary(2) 5 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) TTTTCCCCCAGAACTACAATG 0.413000 4 40 0.150653 0.154188 1 1 0 CDON 50937 broad.mit.edu 37 11 125889635 125889635 + Silent SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:125889635T>C ENST00000392693.3 - 4 502 c.375A>G c.(373-375)acA>acG p.T125T CDON_ENST00000263577.7_Silent_p.T125T NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 125 Ig-like C2-type 2. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) TAACATGCTTTGTGGATGAAC 0.368000 12 87 0 0 1 0 0 ONECUT2 9480 broad.mit.edu 37 18 55104121 55104121 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:55104121G>T ENST00000491143.2 + 1 1205 c.1173G>T c.(1171-1173)atG>atT p.M391I NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 391 organ morphogenesis nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) TCCGCAGGATGTGGAAGTGGC 0.627000 8 19 5.18039e-06 6.86552e-06 1 1 0 DCAF8 50717 broad.mit.edu 37 1 160209851 160209851 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:160209851C>A ENST00000368073.3 - 4 793 c.359G>T c.(358-360)cGc>cTc p.R120L DCAF8_ENST00000556710.1_Missense_Mutation_p.R274L|DCAF8_ENST00000368074.1_Missense_Mutation_p.R120L|DCAF8_ENST00000326837.2_Missense_Mutation_p.R120L|DCAF8_ENST00000461888.1_5'UTR Q5TAQ9 DCAF8_HUMAN DDB1 and CUL4 associated factor 8 120 CUL4 RING ubiquitin ligase complex protein binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1) 33 AGCCCGCTTGCGCTGTACACG 0.557000 8 37 0.000274275 0.00032488 1 1 0 CWC25 54883 broad.mit.edu 37 17 36971335 36971335 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:36971335C>A ENST00000225428.4 - 3 504 c.207G>T c.(205-207)aaG>aaT p.K69N CWC25_ENST00000536127.1_Missense_Mutation_p.K6N NM_017748.3 NP_060218.1 Q9NXE8 CWC25_HUMAN CWC25 spliceosome-associated protein homolog (S. cerevisiae) 69 central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 14 TCCAGTCCAACTTTTCTTCTT 0.448000 18 153 5.3912e-06 7.13853e-06 1 1 0 PTPRT 11122 broad.mit.edu 37 20 40730872 40730872 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:40730872G>A ENST00000373198.3 - 27 3907 c.3672C>T c.(3670-3672)aaC>aaT p.N1224N PTPRT_ENST00000373201.1_Silent_p.N1192N|PTPRT_ENST00000373193.3_Silent_p.N1205N|PTPRT_ENST00000356100.2_Silent_p.N1211N|PTPRT_ENST00000373187.1_Silent_p.N1202N|PTPRT_ENST00000373184.1_Silent_p.N1212N|PTPRT_ENST00000373190.1_Silent_p.N1201N NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1202 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TCTTATCATGGTTCCGGGGCA 0.567000 8 56 0 0 1 0 0 GLI1 2735 broad.mit.edu 37 12 57858581 57858581 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:57858581G>T ENST00000228682.2 + 4 410 c.319G>T c.(319-321)Gta>Tta p.V107L GLI1_ENST00000546141.1_Missense_Mutation_p.V66L|GLI1_ENST00000543426.1_5'UTR NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 107 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CAGCTCCCTCGTAGCTTTCAT 0.597000 12 70 0.0931896 0.0974613 1 1 0 PJA2 9867 broad.mit.edu 37 5 108713993 108713993 + Nonsense_Mutation SNP C C A rs141872724 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:108713993C>A ENST00000361189.2 - 4 1434 c.1195G>T c.(1195-1197)Gga>Tga p.G399* PJA2_ENST00000361557.3_Nonsense_Mutation_p.G399* NM_014819.4 NP_055634.3 O43164 PJA2_HUMAN praja ring finger 2, E3 ubiquitin protein ligase 399 long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) GCTGTGGCTCCACTTTCTGAT 0.403000 14 119 1.3612e-06 1.90261e-06 1 1 0 PEAK1 79834 broad.mit.edu 37 15 77407136 77407136 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:77407136C>A ENST00000560626.2 - 7 5078 c.4603G>T c.(4603-4605)Ggc>Tgc p.G1535C PEAK1_ENST00000312493.4_Missense_Mutation_p.G1535C Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 1535 Protein kinase. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding GGCCCAAAGCCTTGGGCAGTC 0.567000 8 57 5.18039e-06 6.86552e-06 1 1 0 ANKIB1 54467 broad.mit.edu 37 7 92015842 92015842 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:92015842G>T ENST00000265742.3 + 12 2013 c.1637G>T c.(1636-1638)tGg>tTg p.W546L NM_019004.1 NP_061877.1 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 546 protein binding|zinc ion binding cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GACTTTTGCTGGATTTGCCTT 0.378000 7 16 0.000274275 0.00032488 1 1 0 THBS2 7058 broad.mit.edu 37 6 169629707 169629707 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:169629707C>A ENST00000366787.3 - 15 2468 c.2219G>T c.(2218-2220)tGt>tTt p.C740F XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 740 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GTCATCATCACAGGCATCGCC 0.537000 19 121 3.62473e-10 6.08086e-10 1 1 0 DLGAP2 9228 broad.mit.edu 37 8 1497730 1497730 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:1497730T>A ENST00000421627.2 + 2 1005 c.871T>A c.(871-873)Tgg>Agg p.W291R NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 370 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GCGCAGCTCCTGGTCTACGCT 0.647000 8 31 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31599928 31599928 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:31599928T>A ENST00000379416.3 - 14 1466 c.1418A>T c.(1417-1419)cAg>cTg p.Q473L NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 473 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CTTGGAAAGCTGCCTCTGAGT 0.468000 16 104 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175106062 175106062 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:175106062T>C ENST00000239462.4 + 17 3646 c.3533T>C c.(3532-3534)tTc>tCc p.F1178S NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 1178 Fibrinogen C-terminal. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TATGATTTCTTCCAAGTGGCC 0.488000 12 48 0 0 1 0 0 GARNL3 84253 broad.mit.edu 37 9 130097597 130097597 + Missense_Mutation SNP A A C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:130097597A>C ENST00000373387.4 + 10 1210 c.858A>C c.(856-858)aaA>aaC p.K286N GARNL3_ENST00000435213.2_Missense_Mutation_p.K264N|GARNL3_ENST00000314904.5_Missense_Mutation_p.K286N NM_032293.4 NP_115669.3 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 286 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 CATATTCCAAAGAGAACAAAC 0.398000 22 83 0 0 1 0 0 CSRNP3 80034 broad.mit.edu 37 2 166535754 166535754 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:166535754G>T ENST00000314499.7 + 7 1625 c.1249G>T c.(1249-1251)Gcc>Tcc p.A417S CSRNP3_ENST00000409420.1_Missense_Mutation_p.A449S|CSRNP3_ENST00000342316.4_Missense_Mutation_p.A417S NM_001172173.1 NP_001165644.1 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 417 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2) 33 TGATGGCACCGCCGTTCACGA 0.453000 21 115 3.73194e-20 7.47901e-20 1 1 0 NUF2 83540 broad.mit.edu 37 1 163310200 163310200 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:163310200A>G ENST00000271452.3 + 9 932 c.653A>G c.(652-654)gAg>gGg p.E218G NUF2_ENST00000367900.3_Missense_Mutation_p.E218G|NUF2_ENST00000524800.1_Missense_Mutation_p.E218G NM_145697.2 NP_663735.2 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 218 Interaction with the N-terminus of NDC80. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 all_hematologic(923;0.101) AATATTTCAGAGAAAACCAAG 0.333000 12 117 0 0 1 0 0 EXOC8 149371 broad.mit.edu 37 1 231472295 231472295 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:231472295G>A ENST00000366645.1 - 1 1303 c.1185C>T c.(1183-1185)tcC>tcT p.S395S EXOC8_ENST00000360394.2_Silent_p.S399S Q8IYI6 EXOC8_HUMAN exocyst complex component 8 399 exocytosis|protein transport growth cone|nucleus protein binding cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1) 14 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) AACGATCTGGGGAGAGTTCGA 0.537000 19 88 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138373847 138373847 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:138373847C>A ENST00000409968.1 + 18 3704 c.3526C>A c.(3526-3528)Ctg>Atg p.L1176M THSD7B_ENST00000413152.2_Missense_Mutation_p.L1148M|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.L1179M thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GCCTTGCCTCCTGAATGAAAA 0.443000 29 159 2.14196e-07 3.16386e-07 1 1 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 34 0 0 1 0 0 FAM153B 202134 broad.mit.edu 37 5 175530244 175530244 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:175530244G>T ENST00000253490.4 + 13 736 c.679G>T c.(679-681)Gta>Tta p.V227L FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Missense_Mutation_p.V150L|FAM153B_ENST00000510151.1_Missense_Mutation_p.V150L P0C7A2 F153B_HUMAN family with sequence similarity 153, member B 227 endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 16 all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Kidney(146;0.0965) GATCAGGGATGTACTTCAGGA 0.498000 18 233 4.96729e-08 7.61001e-08 1 1 0 ASPM 259266 broad.mit.edu 37 1 197059396 197059396 + Silent SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:197059396A>G ENST00000367409.4 - 24 10015 c.9759T>C c.(9757-9759)acT>acC p.T3253T ASPM_ENST00000367408.1_Silent_p.T918T|ASPM_ENST00000294732.7_Silent_p.T1668T NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 3253 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 GTGCAAGTGCAGTTCTTTTGT 0.343000 14 89 0 0 1 0 0 CPA5 93979 broad.mit.edu 37 7 129989906 129989906 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:129989906G>T ENST00000485477.1 + 4 1418 c.289G>T c.(289-291)Gag>Tag p.E97* CPA5_ENST00000393213.3_Nonsense_Mutation_p.E97*|CPA5_ENST00000355388.3_Nonsense_Mutation_p.E97*|CPA5_ENST00000474905.1_Nonsense_Mutation_p.E97*|CPA5_ENST00000466363.2_Nonsense_Mutation_p.E97*|CPA5_ENST00000431780.2_Nonsense_Mutation_p.E97*|CPA5_ENST00000461828.1_Nonsense_Mutation_p.E97* Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 97 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) AGCTTATCTGGAGTCTCATGG 0.552000 26 142 2.27525e-19 4.53522e-19 1 1 0 ACTG2 72 broad.mit.edu 37 2 74140736 74140736 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:74140736G>T ENST00000409624.1 + 7 1219 c.576G>T c.(574-576)aaG>aaT p.K192N ACTG2_ENST00000409731.3_Missense_Mutation_p.K149N|ACTG2_ENST00000345517.3_Missense_Mutation_p.K192N P63267 ACTH_HUMAN actin, gamma 2, smooth muscle, enteric 192 muscle contraction cytoskeleton|cytosol ATP binding large_intestine(3)|lung(14)|skin(1) 18 ACCTCATGAAGATCCTCACAG 0.532000 16 98 6.72482e-11 1.15829e-10 1 1 0 ISLR 3671 broad.mit.edu 37 15 74468090 74468090 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:74468090G>T ENST00000249842.3 + 2 1248 c.891G>T c.(889-891)gtG>gtT p.V297V RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.V297V NM_005545.3 NP_005536.1 O14498 ISLR_HUMAN immunoglobulin superfamily containing leucine-rich repeat 297 Ig-like. cell adhesion extracellular region central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 GCACCCCTGTGGCCAGCTCCC 0.637000 15 124 2.94398e-08 4.56687e-08 1 1 0 ATP6V0A4 50617 broad.mit.edu 37 7 138391432 138391432 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:138391432C>T ENST00000310018.2 - 22 2742 c.2460G>A c.(2458-2460)ggG>ggA p.G820G ATP6V0A4_ENST00000353492.4_Silent_p.G820G|ATP6V0A4_ENST00000393054.1_Silent_p.G820G NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 820 G -> R (in RTADR). cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 TGTAACCATCCCCGACATAGA 0.522000 6 72 0 0 1 0 0 RAD23A 5886 broad.mit.edu 37 19 13059350 13059350 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:13059350C>T ENST00000586534.1 + 4 517 c.456C>T c.(454-456)gaC>gaT p.D152D RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000541222.1_Intron|RAD23A_ENST00000316856.3_Silent_p.D152D|RAD23A_ENST00000592268.1_Silent_p.D152D P54725 RD23A_HUMAN RAD23 homolog A (S. cerevisiae) 152 interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process nucleus|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 GAGAGGAAGACGCGGCCTCCA 0.652000 Nucleotide excision repair (NER) 11 75 0 0 1 0 0 LCE5A 254910 broad.mit.edu 37 1 152484248 152484248 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:152484248C>A ENST00000334269.2 + 2 414 c.238C>A c.(238-240)Cgc>Agc p.R80S NM_178438.4 NP_848525.1 Q5TCM9 LCE5A_HUMAN late cornified envelope 5A 80 Cys-rich. keratinization lung(3)|ovary(1)|prostate(3) 7 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GTCCCTCCGACGCCGACCTCA 0.677000 17 40 1.22384e-17 2.40072e-17 1 1 0 GBP6 163351 broad.mit.edu 37 1 89844074 89844074 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:89844074T>A ENST00000370456.4 + 5 620 c.527T>A c.(526-528)tTt>tAt p.F176Y GBP6_ENST00000535065.1_Missense_Mutation_p.F46Y NM_198460.2 NP_940862.2 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 176 GTP binding|GTPase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) TTCCCAGACTTTCTTTGGACA 0.458000 21 122 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170151120 170151120 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:170151120T>A ENST00000263816.3 - 5 813 c.528A>T c.(526-528)gaA>gaT p.E176D LRP2_ENST00000443831.1_Missense_Mutation_p.E176D NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 176 LDL-receptor class A 4. 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) TGCAGTTGATTTCATCTGAGG 0.443000 15 59 0 0 1 0 0 NCKAP1 10787 broad.mit.edu 37 2 183795447 183795447 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:183795447C>G ENST00000360982.2 - 28 3705 c.2947G>C c.(2947-2949)Gta>Cta p.V983L NCKAP1_ENST00000361354.3_Missense_Mutation_p.V977L|NCKAP1_ENST00000478449.1_5'UTR NM_205842.1 NP_995314.1 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 977 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) GAAAGAGCTACGACCAATGCA 0.343000 9 67 0 0 1 0 0 GABRG3 2567 broad.mit.edu 37 15 27572176 27572176 + Splice_Site SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:27572176G>T ENST00000333743.6 + 4 745 c.491_splice c.e4+1 p.R164_splice GABRG3_ENST00000555083.1_Splice_Site_p.R164_splice NM_033223.4 NP_150092.2 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 164 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.R164M(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) TACACTTTGAGGTAAGATGCT 0.423000 3 30 0.004672 0.00515519 1 1 0 TSHR 7253 broad.mit.edu 37 14 81558909 81558909 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:81558909C>T ENST00000541158.2 + 7 824 c.502C>T c.(502-504)Cct>Tct p.P168S TSHR_ENST00000342443.6_Missense_Mutation_p.P168S|TSHR_ENST00000298171.2_Missense_Mutation_p.P168S|TSHR_ENST00000554435.1_Missense_Mutation_p.P168S|TSHR_ENST00000554263.1_Missense_Mutation_p.P168S P16473 TSHR_HUMAN thyroid stimulating hormone receptor 168 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) GACGTCAATCCCTGTGAATGC 0.408000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 6 85 0 0 1 0 0 DHX35 60625 broad.mit.edu 37 20 37631511 37631511 + Splice_Site SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:37631511G>T ENST00000252011.3 + 10 885 c.852_splice c.e10+1 p.Q284_splice DHX35_ENST00000373325.2_Splice_Site_p.Q284_splice|DHX35_ENST00000373323.4_Splice_Site_p.Q253_splice NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 284 Helicase C-terminal. catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) TTACTGGCCAGGTAATGCCAC 0.398000 10 65 1.58986e-06 2.19736e-06 1 1 0 RNF213 57674 broad.mit.edu 37 17 78319153 78319153 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:78319153G>T ENST00000582970.1 + 29 7161 c.7018G>T c.(7018-7020)Gtc>Ttc p.V2340F RNF213_ENST00000508628.2_Missense_Mutation_p.V2389F|RNF213_ENST00000336301.6_Missense_Mutation_p.V413F NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GACTGGGAAGGTCATCAAGAG 0.517000 17 143 3.41278e-10 5.73177e-10 1 1 0 FANCI 55215 broad.mit.edu 37 15 89833462 89833462 + Nonsense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:89833462C>T ENST00000310775.7 + 19 1926 c.1840C>T c.(1840-1842)Cga>Tga p.R614* FANCI_ENST00000300027.8_Nonsense_Mutation_p.R614* NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 614 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) TGATGTTCTTCGAAGGAACTC 0.358000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 15 79 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31025778 31025778 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:31025778C>A ENST00000355537.3 + 3 2342 c.2195C>A c.(2194-2196)tCt>tAt p.S732Y NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 732 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GCTGGGAGATCTGCCGGCGTC 0.567000 23 135 5.45024e-15 1.04159e-14 1 1 0 LHCGR 3973 broad.mit.edu 37 2 48915778 48915778 + Silent SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:48915778T>C ENST00000294954.7 - 11 1179 c.1158A>G c.(1156-1158)acA>acG p.T386T STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Silent_p.T359T|LHCGR_ENST00000403273.1_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Silent_p.T324T NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 386 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) TGTAACGACTTGTCAGGAGAA 0.423000 20 81 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24877553 24877553 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:24877553A>T ENST00000382554.3 + 3 995 c.677A>T c.(676-678)cAg>cTg p.Q226L NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 226 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 TGCCCTCCCCAGCAGCAGAAG 0.602000 13 64 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9052056 9052056 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:9052056G>A ENST00000382496.5 - 20 3439 c.2774C>T c.(2773-2775)cCc>cTc p.P925L NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 925 TSP type-1 7. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 GCTGCCCATGGGGAACAGGAG 0.572000 4 28 0 0 1 0 0 RIMS4 140730 broad.mit.edu 37 20 43384801 43384801 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:43384801C>A ENST00000372851.3 - 6 850 c.784G>T c.(784-786)Gtg>Ttg p.V262L RIMS4_ENST00000541604.2_Missense_Mutation_p.V263L NM_001205317.1|NM_182970.3 NP_001192246.1|NP_892015.1 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 262 exocytosis|neurotransmitter transport cell junction|synapse central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1) 29 Myeloproliferative disorder(115;0.0122) CAGGGCCCCACGGTGCTCTCG 0.682000 15 76 1.15088e-07 1.71878e-07 1 1 0 RFX4 5992 broad.mit.edu 37 12 107109318 107109318 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:107109318C>A ENST00000392842.1 + 11 1548 c.1134C>A c.(1132-1134)acC>acA p.T378T RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Silent_p.T387T|RFX4_ENST00000229387.5_Silent_p.T284T|RP11-482D24.3_ENST00000552415.1_RNA NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 378 Necessary for dimerization. transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 AACTCATCACCCAATGTAAGC 0.458000 4 76 0.000602214 0.000697722 1 1 0 DCPS 28960 broad.mit.edu 37 11 126201400 126201400 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:126201400G>T ENST00000263579.4 + 3 806 c.477G>T c.(475-477)agG>agT p.R159S DCPS_ENST00000530860.1_3'UTR NM_014026.3 NP_054745.1 Q96C86 DCPS_HUMAN decapping enzyme, scavenger 159 deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus exoribonuclease activity|protein binding endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08) ATGACTACAGGAATATTACTT 0.572000 9 67 0.00448238 0.00498677 1 1 0 FZD10 11211 broad.mit.edu 37 12 130648338 130648338 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:130648338G>T ENST00000229030.4 + 1 1335 c.851G>T c.(850-852)gGc>gTc p.G284V FZD10_ENST00000539839.1_Silent_p.R251R Q9ULW2 FZD10_HUMAN frizzled family receptor 10 284 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CTCTTCGCCGGCGCCGAGAGC 0.657000 16 128 3.32936e-07 4.81232e-07 1 1 0 CDH18 1016 broad.mit.edu 37 5 19483538 19483538 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:19483538G>T ENST00000507958.1 - 14 2744 c.1754C>A c.(1753-1755)aCc>aAc p.T585N CDH18_ENST00000274170.4_Missense_Mutation_p.T585N|CDH18_ENST00000502796.1_Missense_Mutation_p.P549T|CDH18_ENST00000506372.1_Missense_Mutation_p.P550T|CDH18_ENST00000382275.1_Missense_Mutation_p.T585N Q13634 CAD18_HUMAN cadherin 18, type 2 585 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) AACCCTGATGGTGAGGGTGCT 0.537000 10 40 1.76689e-08 2.75531e-08 1 1 0 VEPH1 79674 broad.mit.edu 37 3 157034922 157034922 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:157034922T>A ENST00000362010.2 - 10 2111 c.1804A>T c.(1804-1806)Agt>Tgt p.S602C VEPH1_ENST00000392832.2_Missense_Mutation_p.S602C|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Missense_Mutation_p.S602C|VEPH1_ENST00000543418.1_Missense_Mutation_p.S602C NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 602 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CTGGACTTACTGTATAGGCAG 0.398000 24 123 0 0 1 0 0 SERPINA12 145264 broad.mit.edu 37 14 94953681 94953681 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:94953681C>A ENST00000341228.2 - 6 1999 c.1204G>T c.(1204-1206)Gtg>Ttg p.V402L SERPINA12_ENST00000556881.1_Missense_Mutation_p.V402L NM_173850.2 NP_776249.1 Q8IW75 SPA12_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 402 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) AGGAAGAGCACGGAAGGTATT 0.498000 5 109 0.00116845 0.00133498 1 1 0 ABCA13 154664 broad.mit.edu 37 7 48285610 48285610 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:48285610G>T ENST00000435803.1 + 13 1666 c.1642G>T c.(1642-1644)Ggt>Tgt p.G548C NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 548 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CAAGCTACTTGGTTCAGTAGA 0.418000 4 29 0.00909568 0.00987474 1 1 0 EDARADD 128178 broad.mit.edu 37 1 236645782 236645782 + Nonsense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:236645782C>T ENST00000359362.5 + 6 665 c.451C>T c.(451-453)Cag>Tag p.Q151* EDARADD_ENST00000334232.4_Nonsense_Mutation_p.Q161* NM_080738.3 NP_542776.1 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain 161 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) GCAGAGGCCACAGAGCCCCAC 0.562000 7 103 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139606328 139606328 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:139606328G>T ENST00000303045.6 - 63 4993 c.4547C>A c.(4546-4548)cCc>cAc p.P1516H COL22A1_ENST00000435777.1_Missense_Mutation_p.P1496H|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1516 Collagen-like 15.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTCCCCCATGGGGCCGGCCCG 0.657000 HNSCC(7;0.00092) 5 69 0.184627 0.187793 1 1 0 C1orf110 339512 broad.mit.edu 37 1 162829312 162829312 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:162829312T>A ENST00000367912.1 - 2 299 c.125A>T c.(124-126)cAt>cTt p.H42L C1orf110_ENST00000367910.1_Missense_Mutation_p.H42L|C1orf110_ENST00000367911.2_Missense_Mutation_p.H38L Q86UF4 CA110_HUMAN chromosome 1 open reading frame 110 42 endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 12 CAATTTCACATGGTAGAGGCA 0.483000 6 32 0 0 1 0 0 OR4K1 79544 broad.mit.edu 37 14 20404366 20404366 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:20404366C>A ENST00000285600.4 + 1 600 c.541C>A c.(541-543)Ctt>Att p.L181I NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) CTTTTGTGACCTTCCCTTGGT 0.478000 14 177 0.000308642 0.000365005 1 1 0 TESK1 7016 broad.mit.edu 37 9 35609662 35609662 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:35609662G>T ENST00000336395.5 + 10 2054 c.1804G>T c.(1804-1806)Ggc>Tgc p.G602C CD72_ENST00000396757.1_3'UTR|TESK1_ENST00000498522.1_3'UTR NM_006285.2 NP_006276.2 Q15569 TESK1_HUMAN testis-specific kinase 1 602 cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 27 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CTGTGAGGCGGGCAGTCTCCT 0.677000 7 20 5.18039e-06 6.86552e-06 1 1 0 CORO2A 7464 broad.mit.edu 37 9 100889046 100889046 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:100889046C>A ENST00000343933.5 - 11 1488 c.1231G>T c.(1231-1233)Gca>Tca p.A411S CORO2A_ENST00000375077.4_Missense_Mutation_p.A411S NM_003389.3 NP_003380.3 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 411 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) GGTCTCTCTGCAGGCAGTGGG 0.597000 7 103 0.27861 0.281457 1 1 0 PDZD4 57595 broad.mit.edu 37 X 153070011 153070011 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:153070011G>T ENST00000164640.4 - 8 1298 c.1107C>A c.(1105-1107)aaC>aaA p.N369K PDZD4_ENST00000393758.2_Missense_Mutation_p.N294K|PDZD4_ENST00000544474.1_Missense_Mutation_p.N260K NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 369 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCTGGTTGCCGTTCTCCAGGT 0.687000 8 30 0.0477658 0.0500612 1 1 0 OR5P2 120065 broad.mit.edu 37 11 7818310 7818310 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:7818310G>T ENST00000329434.2 - 1 210 c.180C>A c.(178-180)agC>agA p.S60R RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AAGCCAAGTGGCTCAGAAAGA 0.413000 10 70 0.00621372 0.00683601 1 1 0 QKI 9444 broad.mit.edu 37 6 163984649 163984649 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:163984649G>T ENST00000361752.3 + 6 1383 c.832G>T c.(832-834)Ggg>Tgg p.G278W QKI_ENST00000424802.3_Missense_Mutation_p.G270W|QKI_ENST00000453779.2_Missense_Mutation_p.G278W|QKI_ENST00000392127.2_Missense_Mutation_p.G278W|QKI_ENST00000275262.7_Missense_Mutation_p.G278W|QKI_ENST00000361195.2_Missense_Mutation_p.G270W NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2 NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1 Q96PU8 QKI_HUMAN QKI, KH domain containing, RNA binding 278 mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2) 27 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) AGTTCCTCCAGGGCCCGAAGC 0.483000 10 80 0.00829132 0.00910817 1 1 0 PIBF1 10464 broad.mit.edu 37 13 73482669 73482669 + Splice_Site SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr13:73482669G>T ENST00000326291.6 + 12 1827 c.1488_splice c.e12-1 p.V497_splice NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 497 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) TCACTATTAGGTTTTAACCAA 0.348000 5 26 1.06961e-07 1.61367e-07 1 1 0 SPOCK1 6695 broad.mit.edu 37 5 136328288 136328288 + Splice_Site SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:136328288G>T ENST00000394945.1 - 7 760 c.589_splice c.e7-1 p.A197_splice SPOCK1_ENST00000282223.7_Splice_Site_p.A197_splice NM_004598.3 NP_004589.1 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 197 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGTCTGTGCAGGCTAGAGAAA 0.537000 8 58 0.000157383 0.000189601 1 1 0 ZSCAN20 7579 broad.mit.edu 37 1 33957208 33957208 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:33957208G>T ENST00000361328.3 + 6 1503 c.1350G>T c.(1348-1350)atG>atT p.M450I ZSCAN20_ENST00000373413.2_Missense_Mutation_p.M396I NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 450 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) CTGAAGAAATGGCAGAAGACT 0.587000 14 95 2.48551e-13 4.61327e-13 1 1 0 FOLR1 2348 broad.mit.edu 37 11 71907192 71907192 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:71907192G>T ENST00000393679.1 + 5 1181 c.745G>T c.(745-747)Gcc>Tcc p.A249S FOLR1_ENST00000393681.2_Missense_Mutation_p.A249S|FOLR1_ENST00000312293.4_Missense_Mutation_p.A249S|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393676.3_Missense_Mutation_p.A249S P15328 FOLR1_HUMAN folate receptor 1 (adult) 249 cell death|folic acid transport|receptor-mediated endocytosis anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction folic acid binding|receptor activity cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 14 GCTTAGCCTGGCCCTAATGCT 0.602000 11 41 6.40141e-05 7.91768e-05 1 1 0 KMO 8564 broad.mit.edu 37 1 241712173 241712173 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:241712173G>T ENST00000366559.4 + 2 410 c.99G>T c.(97-99)caG>caT p.Q33H KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366558.3_Missense_Mutation_p.Q33H|KMO_ENST00000366557.4_Missense_Mutation_p.Q33H NM_003679.4 NP_003670.2 O15229 KMO_HUMAN kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) 33 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) GGAATTTCCAGATTGATGTAT 0.408000 7 64 7.48243e-07 1.05882e-06 1 1 0 XDH 7498 broad.mit.edu 37 2 31562386 31562386 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:31562386C>T ENST00000379416.3 - 34 3791 c.3743G>A c.(3742-3744)tGc>tAc p.C1248Y NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 1248 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CTTGTTGGGGCAGTCGCGGAG 0.612000 19 86 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42338118 42338118 + Silent SNP C C A rs112590340 byFrequency TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:42338118C>A ENST00000262418.6 - 5 389 c.234G>T c.(232-234)gcG>gcT p.A78A AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'UTR NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 78 bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CCCAGCGCGCCGCCTCCATCC 0.622000 9 61 1.12685e-05 1.46718e-05 1 1 0 MYO9A 4649 broad.mit.edu 37 15 72172852 72172852 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:72172852C>A ENST00000356056.5 - 29 5918 c.5446G>T c.(5446-5448)Ggc>Tgc p.G1816C MYO9A_ENST00000564571.1_Missense_Mutation_p.G1816C|MYO9A_ENST00000424560.1_Missense_Mutation_p.G1887C|MYO9A_ENST00000444904.1_Missense_Mutation_p.G1797C NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1816 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CGGCAACTGCCGGGCAGTTCT 0.428000 10 112 0.000442599 0.000519695 1 1 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 34 0 0 1 0 0 FAM187B 148109 broad.mit.edu 37 19 35719441 35719441 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:35719441C>A ENST00000324675.3 - 1 191 c.143G>T c.(142-144)gGg>gTg p.G48V NM_152481.1 NP_689694.1 Q17R55 F187B_HUMAN family with sequence similarity 187, member B 48 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 9 CCAGTGCGCCCCCGAGGAGTT 0.517000 15 52 1.02788e-11 1.8147e-11 1 1 0 CD1D 912 broad.mit.edu 37 1 158153931 158153931 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:158153931C>T ENST00000368171.3 + 7 1498 c.999C>T c.(997-999)ggC>ggT p.G333G NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 333 antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) CCTATCAGGGCGTCCTGTGAC 0.512000 18 116 0 0 1 0 0 IPPK 64768 broad.mit.edu 37 9 95378177 95378177 + Missense_Mutation SNP G G T rs112162638 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:95378177G>T ENST00000287996.3 - 13 1689 c.1413C>A c.(1411-1413)aaC>aaA p.N471K IPPK_ENST00000375522.1_Missense_Mutation_p.N143K|IPPK_ENST00000486841.1_5'UTR|CENPP_ENST00000375587.3_3'UTR NM_022755.5 NP_073592.1 Q9H8X2 IPPK_HUMAN inositol 1,3,4,5,6-pentakisphosphate 2-kinase 471 inositol or phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol pentakisphosphate 2-kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1) 15 ACATCACGGCGTTGTCTTTGG 0.453000 8 55 0.000274275 0.00032488 1 1 0 BEND7 222389 broad.mit.edu 37 10 13494596 13494596 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:13494596C>T ENST00000341083.3 - 7 1266 c.970G>A c.(970-972)Gta>Ata p.V324I BEND7_ENST00000396900.2_Missense_Mutation_p.V376I|BEND7_ENST00000378605.3_Missense_Mutation_p.V337I|BEND7_ENST00000396898.2_Missense_Mutation_p.V389I|BEND7_ENST00000486542.1_5'UTR NM_152751.2 NP_689964.2 Q8N7W2 BEND7_HUMAN BEN domain containing 7 376 BEN. protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1) 17 AGAATCTGTACCCAATCTCTT 0.368000 23 106 0 0 1 0 0 PRR16 51334 broad.mit.edu 37 5 120022193 120022193 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:120022193G>A ENST00000379551.2 + 3 992 c.635G>A c.(634-636)aGt>aAt p.S212N PRR16_ENST00000505123.1_Missense_Mutation_p.S165N|PRR16_ENST00000446965.1_Missense_Mutation_p.S165N|PRR16_ENST00000407149.2_Missense_Mutation_p.S235N NM_016644.1 NP_057728.1 Q569H4 PRR16_HUMAN proline rich 16 235 Pro-rich. endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) CACTTACACAGTGAACCTGTC 0.502000 8 61 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31318052 31318052 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:31318052T>A ENST00000514738.1 + 11 2168 c.1738T>A c.(1738-1740)Tcc>Acc p.S580T CDH6_ENST00000265071.2_Intron P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 635 Cadherin 5. 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 TCTCCCTGCCTCCTATCTCCC 0.557000 18 75 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152276223 152276223 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:152276223C>A ENST00000368799.1 - 3 11174 c.11139G>T c.(11137-11139)caG>caT p.Q3713H FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3713 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGTGCTCACCTGGTAGAGGA 0.622000 Ichthyosis 61 391 1.02487e-32 2.12274e-32 1 1 0 DNAH5 1767 broad.mit.edu 37 5 13794062 13794062 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:13794062T>A ENST00000265104.4 - 48 8097 c.7993A>T c.(7993-7995)Aat>Tat p.N2665Y NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2665 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCCCACTCATTGATTATTGGC 0.323000 Kartagener syndrome 9 41 0 0 1 0 0 OR6B2 389090 broad.mit.edu 37 2 240969849 240969849 + Translation_Start_Site SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:240969849C>A ENST00000402971.2 - 0 57 NM_001005853.1 NP_001005853.1 Q6IFH4 OR6B2_HUMAN olfactory receptor, family 6, subfamily B, member 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1) 15 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) CCACTCATGCCTCTGTGCTTG 0.592000 3 31 0.004672 0.00515519 1 1 0 OR8H1 219469 broad.mit.edu 37 11 56058304 56058304 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:56058304G>T ENST00000313022.2 - 1 262 c.235C>A c.(235-237)Cct>Act p.P79T NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) AAGGTTTTAGGTGTGATGACA 0.413000 55 341 3.28156e-27 6.74037e-27 1 1 0 ATP13A5 344905 broad.mit.edu 37 3 193082012 193082012 + Missense_Mutation SNP C C A rs146780815 byFrequency TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:193082012C>A ENST00000342358.4 - 2 238 c.121G>T c.(121-123)Gtg>Ttg p.V41L NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 41 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CAGGTCAGCACGGATGCGACA 0.512000 21 224 2.27525e-19 4.53522e-19 1 1 0 DLK1 8788 broad.mit.edu 37 14 101200982 101200982 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:101200982G>T ENST00000341267.4 + 5 1143 c.901G>T c.(901-903)Gag>Tag p.E301* DLK1_ENST00000331224.6_Intron NM_003836.5 NP_003827.3 P80370 DLK1_HUMAN delta-like 1 homolog (Drosophila) 301 multicellular organismal development extracellular space|integral to membrane|soluble fraction breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1) 29 Melanoma(154;0.155) TCTCCTCACCGAGGGCCAGGC 0.622000 8 81 2.52707e-12 4.58708e-12 1 1 0 SPATA31C1 441452 broad.mit.edu 37 9 90535884 90535884 + RNA SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:90535884G>T ENST00000602681.1 + 0 1788 CCACACCTATGGCTCAGGCCG 0.567000 37 268 1.7489e-18 3.47671e-18 1 1 0 IGHV4-61 28391 broad.mit.edu 37 14 107095142 107095142 + RNA SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:107095142A>G ENST00000390630.2 - 0 438 ACAGTAATACACGGCCGTGTC 0.592000 7 101 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140397252 140397252 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:140397252C>A ENST00000286349.3 + 1 372 c.181C>A c.(181-183)Ccc>Acc p.P61T NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 61 Cys-rich. intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TTCTGAGAGCCCCAACTGCCA 0.542000 20 116 1.56452e-12 2.84686e-12 1 1 0 KDR 3791 broad.mit.edu 37 4 55973987 55973987 + Silent SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:55973987C>G ENST00000263923.4 - 10 1624 c.1329G>C c.(1327-1329)ctG>ctC p.L443L NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 443 Ig-like C2-type 5. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CCGTACATGTCAGCGTTTGAG 0.512000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 16 111 0 0 1 0 0 SLC35B1 10237 broad.mit.edu 37 17 47782569 47782569 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:47782569C>A ENST00000240333.6 - 5 566 c.445G>T c.(445-447)Gct>Tct p.A149S SLC35B1_ENST00000415270.2_Missense_Mutation_p.A186S P78383 S35B1_HUMAN solute carrier family 35, member B1 149 endoplasmic reticulum membrane|integral to membrane|microsome UDP-galactose transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1) 7 GCCACTCCAGCCACAATTAAC 0.473000 13 79 2.68362e-12 4.85342e-12 1 1 0 SV2C 22987 broad.mit.edu 37 5 75490886 75490886 + Silent SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:75490886T>C ENST00000502798.2 + 3 1165 c.723T>C c.(721-723)taT>taC p.Y241Y SV2C_ENST00000322285.7_Silent_p.Y241Y NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 241 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) TCCAAGGTTATGGCTTCTTTC 0.408000 31 258 0 0 1 0 0 LAMC3 10319 broad.mit.edu 37 9 133943616 133943616 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:133943616G>T ENST00000361069.4 + 15 2878 c.2745G>T c.(2743-2745)cgG>cgT p.R915R LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 915 Laminin EGF-like 9. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) GGGGCTGCCGGAGGTAGGTAG 0.657000 6 33 0.0215528 0.0228632 1 1 0 COL6A3 1293 broad.mit.edu 37 2 238266479 238266479 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:238266479G>A ENST00000295550.4 - 22 6970 c.6518C>T c.(6517-6519)aCc>aTc p.T2173I COL6A3_ENST00000347401.3_Missense_Mutation_p.T1972I|COL6A3_ENST00000346358.4_Missense_Mutation_p.T1973I|COL6A3_ENST00000472056.1_Missense_Mutation_p.T1566I|COL6A3_ENST00000353578.4_Missense_Mutation_p.T1967I|COL6A3_ENST00000409809.1_Missense_Mutation_p.T1967I NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2173 Triple-helical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GAGGTCACCGGTTTCTCCTTT 0.542000 27 242 0 0 1 0 0 ME3 10873 broad.mit.edu 37 11 86161369 86161369 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:86161369C>A ENST00000543262.1 - 9 1317 c.991G>T c.(991-993)Gtg>Ttg p.V331L ME3_ENST00000393324.3_Missense_Mutation_p.V331L|ME3_ENST00000359636.2_Missense_Mutation_p.V331L|RP11-317J19.1_ENST00000524610.1_RNA NM_001161586.1 NP_001155058.1 Q16798 MAON_HUMAN malic enzyme 3, NADP(+)-dependent, mitochondrial 331 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) AAAACAAACACGTGATTGGAA 0.502000 6 41 0.00116845 0.00133498 1 1 0 OR5T1 390155 broad.mit.edu 37 11 56043637 56043637 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:56043637A>G ENST00000313033.2 + 1 609 c.523A>G c.(523-525)Aca>Gca p.T175A NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) TACAGTGGCTACATTTAGCCT 0.423000 42 246 0 0 1 0 0 PABPC1L 80336 broad.mit.edu 37 20 43547850 43547850 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:43547850A>T ENST00000255136.3 + 5 752 c.670A>T c.(670-672)Agg>Tgg p.R224W PABPC1L_ENST00000217074.4_Missense_Mutation_p.R224W|PABPC1L_ENST00000217073.2_Missense_Mutation_p.R224W|PABPC1L_ENST00000537323.1_Missense_Mutation_p.R224W NM_001124756.1 NP_001118228.1 Q4VXU2 PAP1L_HUMAN poly(A) binding protein, cytoplasmic 1-like 224 RRM 3. nucleotide binding|RNA binding breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 GAAGGTGATGAGGGACAACAG 0.572000 10 67 0 0 1 0 0 KRT14 3861 broad.mit.edu 37 17 39739859 39739859 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:39739859C>T ENST00000167586.6 - 5 1083 c.997G>A c.(997-999)Gag>Aag p.E333K NM_000526.4 NP_000517.2 P02533 K1C14_HUMAN keratin 14 333 Coil 2.|Rod. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) CGCCGGAGCTCCGAGATCTCG 0.592000 14 81 0 0 1 0 0 EDARADD 128178 broad.mit.edu 37 1 236590748 236590748 + Nonsense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:236590748C>T ENST00000359362.5 + 4 401 c.187C>T c.(187-189)Cag>Tag p.Q63* EDARADD_ENST00000334232.4_Nonsense_Mutation_p.Q73* NM_080738.3 NP_542776.1 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain 73 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) TATGAAAAATCAGGTAAGAAT 0.264000 8 70 0 0 1 0 0 HOXD12 3238 broad.mit.edu 37 2 176964685 176964685 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:176964685C>A ENST00000406506.2 + 1 228 c.156C>A c.(154-156)gcC>gcA p.A52A HOXD12_ENST00000404162.2_Silent_p.A52A P35452 HXD12_HUMAN homeobox D12 52 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) TGCCCTGGGCCGCCACGCCCG 0.731000 7 22 1.06961e-07 1.61367e-07 1 1 0 CUX2 23316 broad.mit.edu 37 12 111748360 111748360 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:111748360C>A ENST00000261726.6 + 15 1928 c.1774C>A c.(1774-1776)Cta>Ata p.L592I NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 592 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 CAGCGAGATCCTAGCCCGGCC 0.607000 15 84 1.15088e-07 1.71878e-07 1 1 0 GBA3 57733 broad.mit.edu 37 4 22749425 22749425 + RNA SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:22749425C>A ENST00000511446.1 + 0 796 GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA NM_001277225.1 NP_001264154.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TGGTGATTATCCTGAAGTTGT 0.423000 11 64 0.000673444 0.000778424 1 1 0 LOC220729 220729 broad.mit.edu 37 3 197349060 197349060 + RNA SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:197349060C>A ENST00000418868.1 - 0 517 NR_003266.2 CCCATCACCTCGACCATGGCA 0.582000 6 32 5.18039e-06 6.86552e-06 1 1 0 WASF3 10810 broad.mit.edu 37 13 27257051 27257051 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr13:27257051G>T ENST00000361042.4 + 9 1507 c.1282G>T c.(1282-1284)Gag>Tag p.E428* WASF3_ENST00000335327.5_Nonsense_Mutation_p.E431* Q9UPY6 WASF3_HUMAN WAS protein family, member 3 431 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) GAAGCGGCAAGAGCCTGCACA 0.637000 16 92 4.7546e-09 7.61455e-09 1 1 0 TRAPPC11 60684 broad.mit.edu 37 4 184606486 184606486 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:184606486G>A ENST00000334690.6 + 17 1894 c.1692G>A c.(1690-1692)ctG>ctA p.L564L TRAPPC11_ENST00000512476.1_Silent_p.L170L|TRAPPC11_ENST00000357207.4_Silent_p.L564L NM_021942.5 NP_068761.4 Q7Z392 CD041_HUMAN trafficking protein particle complex 11 564 CTCAGAAGCTGTGGGCAGACC 0.428000 44 172 0 0 1 0 0 PTPN22 26191 broad.mit.edu 37 1 114402056 114402056 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:114402056G>T ENST00000359785.5 - 2 249 c.114C>A c.(112-114)taC>taA p.Y38* PTPN22_ENST00000538253.1_5'UTR|PTPN22_ENST00000534519.1_5'UTR|PTPN22_ENST00000528414.1_Nonsense_Mutation_p.Y38*|PTPN22_ENST00000420377.2_Nonsense_Mutation_p.Y38*|PTPN22_ENST00000525799.1_Nonsense_Mutation_p.Y38*|PTPN22_ENST00000460620.1_Nonsense_Mutation_p.Y38*|AP4B1-AS1_ENST00000419536.1_RNA NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051.3 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 38 Tyrosine-protein phosphatase. negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) 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) TGTCTGCCTTGTACTTGGTAG 0.368000 12 133 6.40141e-05 7.91768e-05 1 1 0 OR5W2 390148 broad.mit.edu 37 11 55681186 55681186 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:55681186G>A ENST00000344514.1 - 1 872 c.873C>T c.(871-873)agC>agT p.S291S NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TGTTCCTCAGGCTATAAATCA 0.343000 5 48 0 0 1 0 0 CNDP1 84735 broad.mit.edu 37 18 72223613 72223613 + Missense_Mutation SNP G G T rs112094037 byFrequency TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:72223613G>T ENST00000358821.3 + 2 293 c.65G>T c.(64-66)cGc>cTc p.R22L CNDP1_ENST00000585136.1_3'UTR|CNDP1_ENST00000582365.1_Intron NM_032649.5 NP_116038.4 Q96KN2 CNDP1_HUMAN carnosine dipeptidase 1 (metallopeptidase M20 family) 22 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) CTGCTGGAGCGCGGCATGTTC 0.557000 12 64 1.08611e-07 1.63191e-07 1 1 0 RBFOX1 54715 broad.mit.edu 37 16 7383081 7383081 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:7383081C>A ENST00000340209.4 + 1 331 c.34C>A c.(34-36)Ctg>Atg p.L12M RBFOX1_ENST00000355637.4_Missense_Mutation_p.L27M|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000436368.2_Missense_Mutation_p.L27M|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000311745.5_Missense_Mutation_p.L27M Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 0 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 CCTTCCTGGACTGATTCAGGT 0.443000 13 92 4.3838e-07 6.31796e-07 1 1 0 ITM2B 9445 broad.mit.edu 37 13 48807510 48807510 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr13:48807510C>T ENST00000378565.5 + 1 217 c.14C>T c.(13-15)aCg>aTg p.T5M ITM2B_ENST00000378549.5_Missense_Mutation_p.T5M NM_021999.4 NP_068839.1 Q9Y287 ITM2B_HUMAN integral membrane protein 2B 5 nervous system development Golgi membrane|integral to membrane|nucleus|plasma membrane beta-amyloid binding endometrium(1)|large_intestine(2)|lung(3) 6 all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;1.97e-06) GTGAAGGTGACGTTCAACTCC 0.731000 2 2 0 0 1 0 0 TRAV25 28658 broad.mit.edu 37 14 22580406 22580406 + RNA SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:22580406T>C ENST00000390454.2 + 0 107 GTTGGTCTTATGGATGCAATT 0.453000 15 68 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216017731 216017731 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:216017731T>A ENST00000366943.2 - 46 9549 c.9163A>T c.(9163-9165)Atc>Ttc p.I3055F USH2A_ENST00000307340.3_Missense_Mutation_p.I3055F O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3055 Fibronectin type-III 17. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTTACATAGATAGAATACTCA 0.433000 HNSCC(13;0.011) 23 88 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36486912 36486912 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:36486912C>T ENST00000342292.4 - 11 2560 c.2540G>A c.(2539-2541)aGg>aAg p.R847K NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 847 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GGCCTTTTCCCTGGAGCTGGC 0.657000 3 25 0 0 1 0 0 KIAA1257 57501 broad.mit.edu 37 3 128706480 128706480 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:128706480C>A ENST00000265068.5 - 4 813 c.646G>T c.(646-648)Gtg>Ttg p.V216L KIAA1257_ENST00000511438.1_Missense_Mutation_p.V216L|KIAA1257_ENST00000515659.1_Missense_Mutation_p.V104L|KIAA1257_ENST00000510149.1_5'UTR NM_020741.2 NP_065792.1 Q9ULG3 K1257_HUMAN KIAA1257 216 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 AAAGCTCCCACGTCGTCTGTG 0.433000 8 82 1.76689e-08 2.75531e-08 1 1 0 NRG1 3084 broad.mit.edu 37 8 32600255 32600255 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:32600255C>A ENST00000520407.1 + 5 1468 c.1238C>A c.(1237-1239)aCg>aAg p.T413K NRG1_ENST00000338921.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000520502.2_Missense_Mutation_p.T287K|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000519301.1_Intron NM_013962.2 NP_039256.2 Q02297 NRG1_HUMAN neuregulin 1 0 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) TTCTACAGTACGTCCACTCCC 0.463000 25 192 4.7796e-09 7.63809e-09 1 1 0 KRT12 3859 broad.mit.edu 37 17 39019768 39019768 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:39019768A>T ENST00000251643.4 - 5 1087 c.1064T>A c.(1063-1065)cTg>cAg p.L355Q NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 355 Coil 2.|Rod. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) CTCGATCTCCAGGTTCTGAAA 0.547000 8 59 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157527821 157527821 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:157527821C>T ENST00000346085.5 + 20 5547 c.5546C>T c.(5545-5547)cCc>cTc p.P1849L ARID1B_ENST00000275248.4_Missense_Mutation_p.P1831L|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1889L|ARID1B_ENST00000350026.5_Missense_Mutation_p.P1836L NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1836 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CCACCTCCCCCCTTAAGCTCC 0.547000 10 88 0 0 1 0 0 MIR381HG 378881 broad.mit.edu 37 14 101514284 101514284 + RNA SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:101514284G>T ENST00000553692.1 + 0 28 MIR889_ENST00000401280.1_RNA TATTTATGATGATTAATATCG 0.428000 4 33 0.00909568 0.00987474 1 1 0 OR10J5 127385 broad.mit.edu 37 1 159505662 159505662 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:159505662C>A ENST00000334857.2 - 1 180 c.136G>T c.(136-138)Gtg>Ttg p.V46L NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) ATGATAGTCACAATGATGATG 0.418000 22 203 1.50039e-11 2.63948e-11 1 1 0 ZC3H12C 85463 broad.mit.edu 37 11 110007545 110007545 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:110007545G>T ENST00000453089.2 + 1 967 c.86G>T c.(85-87)tGg>tTg p.W29L ZC3H12C_ENST00000528673.1_Missense_Mutation_p.W61L|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.W60L Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 60 endonuclease activity|nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) GCTGTACCTTGGTCAACAGTA 0.478000 9 45 5.68852e-11 9.84374e-11 1 1 0 PXDN 7837 broad.mit.edu 37 2 1652933 1652933 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:1652933G>T ENST00000252804.4 - 17 2669 c.2619C>A c.(2617-2619)gcC>gcA p.A873A NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 873 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) ACATGCAGCGGGCCCCGCTCC 0.642000 3 26 0.150653 0.154188 1 1 0 UNC13B 10497 broad.mit.edu 37 9 35389884 35389884 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:35389884G>T ENST00000378495.3 + 24 3111 c.2889G>T c.(2887-2889)cgG>cgT p.R963R UNC13B_ENST00000396787.1_Silent_p.R975R|UNC13B_ENST00000378496.4_Silent_p.R963R NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 963 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) CCAGCATTCGGAACCTGGATT 0.493000 14 130 9.31168e-06 1.22314e-05 1 1 0 HSPA6 3310 broad.mit.edu 37 1 161495871 161495871 + Nonsense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:161495871C>T ENST00000309758.4 + 1 1836 c.1423C>T c.(1423-1425)Cag>Tag p.Q475* NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 475 response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) TGGAGTCCCCCAGATAGAGGT 0.537000 6 62 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56535549 56535549 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:56535549C>T ENST00000370754.5 - 9 1004 c.1005G>A c.(1003-1005)ttG>ttA p.L335L DST_ENST00000370769.4_Silent_p.L157L|DST_ENST00000312431.6_Silent_p.L157L|DST_ENST00000361203.3_Silent_p.L157L|DST_ENST00000370788.2_Silent_p.L157L|DST_ENST00000421834.2_Silent_p.L157L Q03001 DYST_HUMAN dystonin 157 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCCAGAGTAGCAATCTCTCTT 0.408000 5 22 0 0 1 0 0 KCNK13 56659 broad.mit.edu 37 14 90651263 90651263 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:90651263G>T ENST00000282146.4 + 2 1584 c.1143G>T c.(1141-1143)ctG>ctT p.L381L NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 381 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) CCAGCACACTGGCCCGGGACA 0.587000 4 31 0.150653 0.154188 1 1 0 HMGCS2 3158 broad.mit.edu 37 1 120299944 120299944 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:120299944G>C ENST00000369406.3 - 5 1017 c.968C>G c.(967-969)gCc>gGc p.A323G HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Missense_Mutation_p.A281G NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 323 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) GTCACTGCTGGCTGACAGGAA 0.498000 10 50 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35670180 35670180 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:35670180A>T ENST00000440995.2 + 10 1375 c.1375A>T c.(1375-1377)Atg>Ttg p.M459L SPEF2_ENST00000509059.1_Missense_Mutation_p.M459L|SPEF2_ENST00000356031.3_Missense_Mutation_p.M459L|SPEF2_ENST00000282469.6_Missense_Mutation_p.M459L Q9C093 SPEF2_HUMAN sperm flagellar 2 459 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTATAAGTTGATGCATGATTG 0.318000 24 150 0 0 1 0 0 XAGE3 170626 broad.mit.edu 37 X 52896112 52896112 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:52896112G>T ENST00000346279.3 - 2 123 c.53C>A c.(52-54)cCa>cAa p.P18Q XAGE3_ENST00000375491.3_Missense_Mutation_p.P18Q NM_133179.2 NP_573440.1 Q8WTP9 GAGD4_HUMAN X antigen family, member 3 18 kidney(1)|large_intestine(1)|lung(2) 4 CTCAGGAGGTGGTACACTTCT 0.403000 35 107 1.06647e-15 2.04603e-15 1 1 0 ADAMTS2 9509 broad.mit.edu 37 5 178553074 178553074 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:178553074C>A ENST00000251582.7 - 18 2776 c.2675G>T c.(2674-2676)cGt>cTt p.R892L NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 892 TSP type-1 2. 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) ACAGAAGCCACGGTGTACCAT 0.657000 19 84 3.51602e-12 6.30502e-12 1 1 0 IGSF22 283284 broad.mit.edu 37 11 18732325 18732325 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:18732325C>A ENST00000513874.1 - 16 2588 c.2449G>T c.(2449-2451)Gcc>Tcc p.A817S RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 817 Fibronectin type-III 2. NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 ATGGTCACGGCTTCTTTAGTC 0.557000 14 38 1.15088e-07 1.71878e-07 1 1 0 N4BP1 9683 broad.mit.edu 37 16 48580110 48580110 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:48580110C>A ENST00000262384.3 - 6 2517 c.2281G>T c.(2281-2283)Gga>Tga p.G761* N4BP1_ENST00000565423.1_Intron NM_153029.3 NP_694574.3 O75113 N4BP1_HUMAN NEDD4 binding protein 1 761 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body breast(3)|kidney(2)|lung(11)|urinary_tract(1) 17 all_cancers(37;0.179)|all_lung(18;0.11) CCACTTCTTCCCAGAGGATCA 0.443000 11 78 9.70103e-10 1.60744e-09 1 1 0 ATP2A3 489 broad.mit.edu 37 17 3851119 3851119 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:3851119C>T ENST00000309890.7 - 8 811 c.661G>A c.(661-663)Ggt>Agt p.G221S ATP2A3_ENST00000397041.3_Missense_Mutation_p.G221S|ATP2A3_ENST00000397035.3_Missense_Mutation_p.G221S|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Missense_Mutation_p.G221S|ATP2A3_ENST00000397043.3_Missense_Mutation_p.G221S|ATP2A3_ENST00000352011.3_Missense_Mutation_p.G221S NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2 NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous 221 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) ACGGCCACACCCACCGCTTTG 0.672000 3 21 0 0 1 0 0 CD55 1604 broad.mit.edu 37 1 207504639 207504639 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:207504639G>T ENST00000367064.3 + 6 1109 c.851G>T c.(850-852)aGa>aTa p.R284I CD55_ENST00000367063.2_Missense_Mutation_p.R284I|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367065.5_Missense_Mutation_p.R284I|CD55_ENST00000391920.4_Missense_Mutation_p.R284I|CD55_ENST00000367062.4_Missense_Mutation_p.R284I|CD55_ENST00000391921.4_Missense_Mutation_p.R220I|CD55_ENST00000314754.8_Missense_Mutation_p.R284I|CD55_ENST00000465534.1_3'UTR NM_000574.3 NP_000565.1 P08174 DAF_HUMAN CD55 molecule, decay accelerating factor for complement (Cromer blood group) 284 Sushi 4. complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 Chloramphenicol(DB00446) CCTGAATGCAGAGGTAATCAC 0.378000 22 131 5.26018e-13 9.69049e-13 1 1 0 CIRH1A 84916 broad.mit.edu 37 16 69189844 69189844 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:69189844G>T ENST00000563094.1 + 11 1269 c.1235G>T c.(1234-1236)cGg>cTg p.R412L CIRH1A_ENST00000352319.4_Intron|CIRH1A_ENST00000314423.7_Missense_Mutation_p.R412L Q969X6 CIR1A_HUMAN cirrhosis, autosomal recessive 1A (cirhin) 412 nucleolus protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(108;0.125) ACAGTTTCTCGGTTTTTTCTC 0.398000 13 85 1.05317e-09 1.73539e-09 1 1 0 PTCHD4 442213 broad.mit.edu 37 6 47847253 47847253 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:47847253G>T ENST00000339488.4 - 3 1360 c.1327C>A c.(1327-1329)Cac>Aac p.H443N NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 443 integral to membrane hedgehog receptor activity ATGAAGTGGTGCTGGTAGGGG 0.453000 17 50 1.67942e-08 2.63832e-08 1 1 0 EIF2AK2 5610 broad.mit.edu 37 2 37365665 37365665 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:37365665C>A ENST00000233057.4 - 7 902 c.580G>T c.(580-582)Gtg>Ttg p.V194L EIF2AK2_ENST00000405334.1_Missense_Mutation_p.V194L|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.V194L NM_001135651.2 NP_001129123.1 P19525 E2AK2_HUMAN eukaryotic translation initiation factor 2-alpha kinase 2 194 evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle cytosol ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1) 22 all_hematologic(82;0.248) GTGCTGGTCACTAAAGAGTTG 0.358000 10 56 0.010729 0.0116225 1 1 0 GPCPD1 56261 broad.mit.edu 37 20 5538643 5538643 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:5538643C>A ENST00000379019.4 - 19 1989 c.1777G>T c.(1777-1779)Gaa>Taa p.E593* GPCPD1_ENST00000481038.1_5'UTR NM_019593.3 NP_062539.1 Q9NPB8 GPCP1_HUMAN glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) 593 GDPD. glycerol metabolic process|lipid metabolic process carbohydrate binding|glycerophosphodiester phosphodiesterase activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1) 16 CTTCTGTTTTCAGGATCATTG 0.343000 6 44 2.0095e-06 2.75169e-06 1 1 0 AHNAK2 113146 broad.mit.edu 37 14 105416830 105416830 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:105416830G>T ENST00000333244.5 - 7 5077 c.4958C>A c.(4957-4959)gCc>gAc p.A1653D AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1653 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) GCTGTCTTTGGCAGTCACCGC 0.607000 31 289 2.09667e-21 4.24775e-21 1 1 0 ZNF479 90827 broad.mit.edu 37 7 57187721 57187721 + Silent SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:57187721A>G ENST00000331162.4 - 5 1671 c.1401T>C c.(1399-1401)tgT>tgC p.C467C NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 467 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) CACATTCTTCACATGTGTAGG 0.423000 14 102 0 0 1 0 0 NCAM1 4684 broad.mit.edu 37 11 113103955 113103955 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:113103955G>T ENST00000316851.7 + 12 1579 c.1579G>T c.(1579-1581)Ggg>Tgg p.G527W NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.G536W|NCAM1_ENST00000533760.1_Missense_Mutation_p.G409W NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 537 Fibronectin type-III 1. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane p.G536W(2)|p.G527W(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) GGCCACAGGTGGGGTGCCCAT 0.542000 3 20 0.150653 0.154188 1 1 0 ACTN3 89 broad.mit.edu 37 11 66325229 66325229 + RNA SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:66325229C>A ENST00000513398.1 + 0 1054 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 GTGAGCCCAGCATGAGTGCCA 0.617000 3 20 0.004672 0.00515519 1 1 0 MANBA 4126 broad.mit.edu 37 4 103635698 103635698 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:103635698C>A ENST00000226578.4 - 5 669 c.570G>T c.(568-570)tgG>tgT p.W190C MANBA_ENST00000505239.1_Missense_Mutation_p.W133C NM_005908.3 NP_005899.3 O00462 MANBA_HUMAN mannosidase, beta A, lysosomal 190 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding p.W190*(1) cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) GCCCCCAGTCCCAACTAAAGG 0.343000 11 51 2.27111e-07 3.32483e-07 1 1 0 SMR3B 10879 broad.mit.edu 37 4 71250262 71250262 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:71250262C>A ENST00000304915.3 + 2 184 c.35C>A c.(34-36)gCt>gAt p.A12D SMR3B_ENST00000504825.1_Missense_Mutation_p.A12D NM_006685.3 NP_006676.1 submaxillary gland androgen regulated protein 3B large_intestine(2)|lung(3)|skin(2) 7 all_hematologic(202;0.196) GGCCTTTGGGCTCTTGCAGCG 0.343000 23 72 1.61788e-16 3.14458e-16 1 1 0 C17orf47 284083 broad.mit.edu 37 17 56620085 56620085 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:56620085G>T ENST00000321691.3 - 1 1644 c.1463C>A c.(1462-1464)cCa>cAa p.P488Q RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA NM_001038704.2 NP_001033793.2 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 488 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) AAACTCCTTTGGTGGTGATGG 0.473000 44 351 3.39706e-21 6.84488e-21 1 1 0 UTRN 7402 broad.mit.edu 37 6 144783812 144783812 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:144783812A>T ENST00000367545.3 + 22 2876 c.2876A>T c.(2875-2877)aAt>aTt p.N959I NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 959 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) ATCCTTGAGAATCAGAAACCT 0.308000 5 38 0 0 1 0 0 BRCA1 672 broad.mit.edu 37 17 41258541 41258541 + Missense_Mutation SNP C C G rs80357682 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:41258541C>G ENST00000357654.3 - 4 262 c.144G>C c.(142-144)atG>atC p.M48I BRCA1_ENST00000354071.3_Missense_Mutation_p.M48I|BRCA1_ENST00000493795.1_Start_Codon_SNP_p.M1I|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000346315.3_Missense_Mutation_p.M48I|BRCA1_ENST00000491747.2_Missense_Mutation_p.M48I|BRCA1_ENST00000471181.2_Missense_Mutation_p.M48I|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.M48I|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000468300.1_Missense_Mutation_p.M48I|BRCA1_ENST00000352993.3_Missense_Mutation_p.M48I NM_007294.3 NP_009225.1 P38398 BRCA1_HUMAN breast cancer 1, early onset 48 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) GAAGTTTCAGCATGCAAAATC 0.303000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 7 49 0 0 1 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73315271 73315271 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:73315271C>A ENST00000258098.6 - 3 1715 c.1475G>T c.(1474-1476)gGg>gTg p.G492V RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 492 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 TGGGGAGGCCCCCAGGATGGG 0.602000 13 99 1.61879e-10 2.76256e-10 1 1 0 KIFC1 3833 broad.mit.edu 37 6 33374037 33374037 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:33374037G>T ENST00000428849.2 + 8 2051 c.1601G>T c.(1600-1602)cGg>cTg p.R534L NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 534 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 CAGAATGAACGGTCATCACGC 0.632000 27 123 8.58068e-18 1.68993e-17 1 1 0 CADPS 8618 broad.mit.edu 37 3 62860636 62860636 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:62860636C>A ENST00000383710.4 - 1 418 c.69G>T c.(67-69)gtG>gtT p.V23V CADPS_ENST00000283269.9_Silent_p.V23V|CADPS_ENST00000357948.3_Silent_p.V23V|CADPS_ENST00000490353.2_Silent_p.V23V NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 23 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) CCGAGCCGAGCACCTCCTTGC 0.741000 3 17 6.4e-05 7.91768e-05 1 1 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862818 10862818 + RNA SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr21:10862818G>A ENST00000559480.1 + 0 114 p.K38N(1) breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 CCTCAGTGAAGGTCTCCTGCA 0.577000 10 238 0 0 1 0 0 OPN1MW2 728458 broad.mit.edu 37 X 153496123 153496123 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:153496123A>T ENST00000369929.4 + 5 911 c.851A>T c.(850-852)tAc>tTc p.Y284F NM_001048181.2 NP_001041646.1 opsin 1 (cone pigments), medium-wave-sensitive 2 haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1) 6 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGGGGACCCTACGCCTTCTTC 0.567000 33 187 0 0 1 0 0 MYF5 4617 broad.mit.edu 37 12 81111042 81111042 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:81111042G>T ENST00000228644.3 + 1 352 c.200G>T c.(199-201)tGc>tTc p.C67F NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 67 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 GCTGGTCACTGCCTCATGTGG 0.647000 9 40 7.48243e-07 1.05882e-06 1 1 0 OR2G6 391211 broad.mit.edu 37 1 248685221 248685221 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:248685221A>G ENST00000343414.4 + 1 306 c.274A>G c.(274-276)Atg>Gtg p.M92V NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGACAAAACCATGAGCTACGG 0.517000 17 131 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170055393 170055393 + Silent SNP T T G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:170055393T>G ENST00000263816.3 - 45 8766 c.8481A>C c.(8479-8481)acA>acC p.T2827T NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2827 LDL-receptor class A 19. T -> P (in Ref. 3; AAB02882). 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) TATGACATTTTGTGTATCCAG 0.363000 6 41 0 0 1 0 0 MIR412 574433 broad.mit.edu 37 14 101531846 101531846 + RNA SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:101531846G>T ENST00000362142.2 + 0 63 NR_030155.1 TACTTCACCTGGTCCACTAGC 0.607000 8 104 0.00307968 0.00344432 1 1 0 MACF1 23499 broad.mit.edu 37 1 39900304 39900304 + Splice_Site SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:39900304G>T ENST00000564288.1 + 69 18561 c.17784_splice c.e69+1 p.R5928_splice MACF1_ENST00000545844.1_Splice_Site_p.R3866_splice|MACF1_ENST00000361689.2_Splice_Site_p.R3866_splice|MACF1_ENST00000317713.7_Splice_Site_p.R3866_splice|MACF1_ENST00000539005.1_Splice_Site_p.R3736_splice|MACF1_ENST00000372915.3_Splice_Site_p.R5824_splice|MACF1_ENST00000567887.1_Splice_Site_p.R5965_splice|MACF1_ENST00000289893.4_Splice_Site_p.R4368_splice Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 5925 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGGAAATGAGGGTAAGGAGCA 0.413000 15 33 3.27435e-08 5.04244e-08 1 1 0 GOLGA8DP 100132979 broad.mit.edu 37 15 22709206 22709206 + RNA SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:22709206G>T ENST00000314246.8 - 0 1190 CACCTCAGAGGGCACTGCTGG 0.512000 7 114 0.00316338 0.0035326 1 1 0 ATP10A 57194 broad.mit.edu 37 15 25953156 25953156 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:25953156C>T ENST00000356865.6 - 12 2653 c.2542G>A c.(2542-2544)Gcc>Acc p.A848T NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 848 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) AGGCGAATGGCAGACTGGAAG 0.542000 6 44 0 0 1 0 0 BTN3A2 11118 broad.mit.edu 37 6 26370772 26370772 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:26370772C>T ENST00000356386.2 + 5 844 c.656C>T c.(655-657)tCc>tTc p.S219F BTN3A2_ENST00000527422.1_Missense_Mutation_p.S219F|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000508906.2_Missense_Mutation_p.S177F|BTN3A2_ENST00000396948.1_Missense_Mutation_p.S219F|BTN3A2_ENST00000377708.2_Missense_Mutation_p.S219F|BTN3A2_ENST00000396934.3_Missense_Mutation_p.S196F NM_001197246.2|NM_001197247.1|NM_007047.3 NP_001184175.1|NP_001184176.1|NP_008978.2 P78410 BT3A2_HUMAN butyrophilin, subfamily 3, member A2 219 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5) 10 GAGGGTGTATCCTGCATCATC 0.542000 15 153 0 0 1 0 0 L1TD1 54596 broad.mit.edu 37 1 62672826 62672826 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:62672826G>T ENST00000498273.1 + 3 821 c.526G>T c.(526-528)Gaa>Taa p.E176* NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 176 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 aagtatggaagaaaccttatg 0.373000 4 9 0.00024832 0.000296266 1 1 0 ANKK1 255239 broad.mit.edu 37 11 113270743 113270743 + Missense_Mutation SNP T T G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:113270743T>G ENST00000303941.3 + 8 2146 c.2052T>G c.(2050-2052)aaT>aaG p.N684K NM_178510.1 NP_848605.1 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 684 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) ATCACGCAAATGTCCACGCCC 0.632000 9 66 0 0 1 0 0 OR2G2 81470 broad.mit.edu 37 1 247752232 247752232 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:247752232G>T ENST00000320065.1 + 1 571 c.571G>T c.(571-573)Gct>Tct p.A191S RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 191 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CATCAAGCTGGCTTGTGTGGG 0.537000 46 142 1.06522e-23 2.17592e-23 1 1 0 ANKRD36B 57730 broad.mit.edu 37 2 98195446 98195446 + RNA SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:98195446C>A ENST00000443455.1 - 0 796 Q8N2N9 AN36B_HUMAN ankyrin repeat domain 36B CAATATTGTGCTGCAGAAGAA 0.358000 3 32 0.115264 0.119286 1 1 0 DOCK2 1794 broad.mit.edu 37 5 169484669 169484669 + Splice_Site SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:169484669A>T ENST00000256935.8 + 44 4546 c.4467_splice c.e44+1 p.Q1489_splice DOCK2_ENST00000540750.1_Splice_Site_p.Q550_splice|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Splice_Site_p.Q981_splice NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1489 DHR-2. 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) CACATGTCGCAGGTGAGTCTG 0.567000 7 43 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 145021127 145021127 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:145021127T>C ENST00000369359.4 - 2 312 c.274A>G c.(274-276)Acg>Gcg p.T92A PDE4DIP_ENST00000313382.9_Missense_Mutation_p.T21A|PDE4DIP_ENST00000493130.2_Missense_Mutation_p.T21A|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T92A|PDE4DIP_ENST00000478649.2_Missense_Mutation_p.T21A|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.T92A Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GTGTGACTCGTTCTGGGTACC 0.433000 T PDGFRB MPD 7 194 0 0 1 0 0 CYTIP 9595 broad.mit.edu 37 2 158272299 158272299 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:158272299T>A ENST00000264192.3 - 8 1091 c.970A>T c.(970-972)Atg>Ttg p.M324L CYTIP_ENST00000540637.1_Missense_Mutation_p.M218L NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 324 regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 GTCCCAAACATGCTTGATAAG 0.512000 6 86 0 0 1 0 0 GUK1 2987 broad.mit.edu 37 1 228334575 228334575 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:228334575C>A ENST00000366718.1 + 4 614 c.187C>A c.(187-189)Cgt>Agt p.R63S GUK1_ENST00000366728.2_Missense_Mutation_p.R84S|GUK1_ENST00000366723.1_Missense_Mutation_p.R84S|GUK1_ENST00000470040.1_3'UTR|GUK1_ENST00000312726.4_Missense_Mutation_p.R63S|GUK1_ENST00000366726.1_Missense_Mutation_p.R63S|GUK1_ENST00000366722.1_Missense_Mutation_p.R63S|GUK1_ENST00000391865.3_Missense_Mutation_p.R84S|GUK1_ENST00000366721.1_Missense_Mutation_p.R65S|GUK1_ENST00000366716.1_Missense_Mutation_p.R63S|GUK1_ENST00000366730.1_Missense_Mutation_p.R63S NM_001159391.1 NP_001152863.1 Q16774 KGUA_HUMAN guanylate kinase 1 63 Guanylate kinase-like. nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process cytosol ATP binding|guanylate kinase activity endometrium(2)|lung(5)|prostate(1)|soft_tissue(1) 9 Prostate(94;0.0405) GGTGATGCAGCGTGACATAGC 0.632000 7 104 7.48243e-07 1.05882e-06 1 1 0 ZNF423 23090 broad.mit.edu 37 16 49669670 49669670 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:49669670A>T ENST00000561648.1 - 4 3446 c.3393T>A c.(3391-3393)agT>agA p.S1131R ZNF423_ENST00000535559.1_Missense_Mutation_p.S1014R|ZNF423_ENST00000567169.1_Missense_Mutation_p.S1014R|ZNF423_ENST00000262383.2_Missense_Mutation_p.S1131R|ZNF423_ENST00000563137.2_Missense_Mutation_p.S1071R|ZNF423_ENST00000562520.1_Missense_Mutation_p.S1071R|ZNF423_ENST00000562871.1_Missense_Mutation_p.S1071R NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1131 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GGTCTTCGGCACTCTCAAACT 0.706000 6 76 0 0 1 0 0 DRG2 1819 broad.mit.edu 37 17 17997259 17997259 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:17997259C>T ENST00000225729.3 + 2 335 c.197C>T c.(196-198)gCg>gTg p.A66V DRG2_ENST00000395726.4_Missense_Mutation_p.A66V|DRG2_ENST00000583355.1_Missense_Mutation_p.A66V NM_001388.4 NP_001379.1 P55039 DRG2_HUMAN developmentally regulated GTP binding protein 2 66 signal transduction GTP binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 14 all_neural(463;0.228) GCCCGTGTGGCGCTGATTGGA 0.562000 7 55 0 0 1 0 0 BIN2 51411 broad.mit.edu 37 12 51717879 51717879 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:51717879T>A ENST00000267012.4 - 1 69 c.8A>T c.(7-9)gAg>gTg p.E3V BIN2_ENST00000604560.1_Missense_Mutation_p.E3V|BIN2_ENST00000452142.2_Missense_Mutation_p.E3V|BIN2_ENST00000544402.1_Intron NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 3 cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 TGCCTTGCCCTCTGCCATCCT 0.706000 10 35 0 0 1 0 0 TAB3 257397 broad.mit.edu 37 X 30872241 30872241 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:30872241T>C ENST00000378933.1 - 3 1718 c.1541A>G c.(1540-1542)tAc>tGc p.Y514C TAB3_ENST00000288422.2_Missense_Mutation_p.Y514C|TAB3_ENST00000378932.2_Missense_Mutation_p.Y514C|TAB3_ENST00000378930.3_Missense_Mutation_p.Y514C NM_152787.3 NP_690000.2 Q8N5C8 TAB3_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 3 514 activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1) 27 ACCTTGTGTGTAGGCATAGTC 0.373000 8 31 0 0 1 0 0 KLHL14 57565 broad.mit.edu 37 18 30254751 30254751 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:30254751T>C ENST00000359358.4 - 9 2194 c.1756A>G c.(1756-1758)Aag>Gag p.K586E NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 586 cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 GTAGATGACTTGTAGGCCCCC 0.433000 22 133 0 0 1 0 0 PSD4 23550 broad.mit.edu 37 2 113940528 113940528 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:113940528G>T ENST00000245796.6 + 2 690 c.495G>T c.(493-495)atG>atT p.M165I PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Missense_Mutation_p.M165I NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 165 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGGCCCAGATGTGTGTCCTAG 0.627000 13 77 7.93312e-07 1.11515e-06 1 1 0 WDR78 79819 broad.mit.edu 37 1 67293554 67293554 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:67293554T>A ENST00000371026.3 - 14 2108 c.2053A>T c.(2053-2055)Att>Ttt p.I685F RP11-342H21.2_ENST00000456389.1_RNA|WDR78_ENST00000431318.1_Intron NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 685 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 CATTTGTGAATATGACCTTCT 0.313000 12 174 0 0 1 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113634669 113634669 + Silent SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:113634669T>C ENST00000358160.4 + 10 1566 c.1074T>C c.(1072-1074)agT>agC p.S358S GRAMD1C_ENST00000452134.2_Silent_p.S87S|GRAMD1C_ENST00000440446.2_Silent_p.S153S|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Silent_p.S191S NM_017577.4 NP_060047.3 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 358 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 AATTTGCCAGTTCTAGAAATA 0.308000 8 53 0 0 1 0 0 PRMT3 10196 broad.mit.edu 37 11 20515790 20515790 + Silent SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:20515790A>G ENST00000331079.6 + 15 1693 c.1476A>G c.(1474-1476)tcA>tcG p.S492S PRMT3_ENST00000437750.2_Silent_p.S430S NM_001145167.1|NM_005788.3 NP_001138639.1|NP_005779.1 O60678 ANM3_HUMAN protein arginine methyltransferase 3 492 zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1) 17 AACCATTTTCAGTTAAAGCAG 0.378000 35 120 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75967608 75967608 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:75967608C>T ENST00000274364.6 + 24 3165 c.2868C>T c.(2866-2868)gaC>gaT p.D956D IQGAP2_ENST00000396234.3_Silent_p.D452D|IQGAP2_ENST00000502745.1_Silent_p.D452D|IQGAP2_ENST00000379730.3_Silent_p.D458D NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 956 Ras-GAP. small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) AGGTACAGGACATAGTTACTG 0.443000 6 83 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48318231 48318231 + Silent SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:48318231T>A ENST00000435803.1 + 18 7464 c.7440T>A c.(7438-7440)ggT>ggA p.G2480G NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2480 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GATTAGTTGGTGCTATTTCAA 0.378000 38 176 0 0 1 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160275017 160275017 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:160275017C>T ENST00000264431.4 + 22 4406 c.3987C>T c.(3985-3987)tcC>tcT p.S1329S NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 1329 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) GGGCGTCTTCCACAGGTTACT 0.473000 5 73 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149247401 149247401 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:149247401C>T ENST00000407073.1 + 12 4498 c.3501C>T c.(3499-3501)ccC>ccT p.P1167P MBD5_ENST00000404807.1_Silent_p.P1400P NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1167 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) CTCGGCTGCCCAAGAATCTAG 0.488000 19 91 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530449 140530449 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:140530449A>T ENST00000231136.1 + 1 611 c.611A>T c.(610-612)cAg>cTg p.Q204L PCDHB6_ENST00000543635.1_Missense_Mutation_p.Q68L NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 204 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCGAGGAGCAGCCCCAACTC 0.597000 10 89 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109697062 109697062 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:109697062C>A ENST00000465301.2 + 3 3463 c.3217C>A c.(3217-3219)Cta>Ata p.L1073I RGAG1_ENST00000540313.1_Missense_Mutation_p.L1073I NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 1073 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 GTCCACACCACTAATGAGGGC 0.547000 22 105 5.26018e-13 9.69049e-13 1 1 0 ADAMTS19 171019 broad.mit.edu 37 5 129070804 129070804 + Splice_Site SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:129070804T>A ENST00000274487.4 + 22 3617 c.e22+2 CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) CCAGACTGGGTAAGCAGACAA 0.328000 16 70 0 0 1 0 0 PDE6A 5145 broad.mit.edu 37 5 149278032 149278032 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:149278032G>T ENST00000255266.5 - 10 1420 c.1301C>A c.(1300-1302)cCt>cAt p.P434H NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha 434 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) ATAGGTGTCAGGATTTAAGAC 0.343000 8 60 1.06961e-07 1.61367e-07 1 1 0 PCDHB16 57717 broad.mit.edu 37 5 140564179 140564179 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:140564179A>T ENST00000361016.2 + 1 3200 c.2045A>T c.(2044-2046)cAg>cTg p.Q682L NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 682 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCCAGACCCAGGCCAACTCG 0.697000 19 111 0 0 1 0 0 SLC9A3 6550 broad.mit.edu 37 5 482774 482774 + Silent SNP G G T rs143761751 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:482774G>T ENST00000264938.3 - 7 1254 c.1245C>A c.(1243-1245)cgC>cgA p.R415R SLC9A3_ENST00000514375.1_Silent_p.R415R NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 415 cell surface|integral to membrane sodium:hydrogen antiporter activity p.R415R(2) NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CCACGGCCCCGCGCAGGCCCC 0.612000 4 29 1 1 1 1 0 RAPGEF6 51735 broad.mit.edu 37 5 130840330 130840330 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:130840330T>C ENST00000509018.1 - 11 1448 c.1243A>G c.(1243-1245)Att>Gtt p.I415V RAPGEF6_ENST00000308008.6_Missense_Mutation_p.I415V|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.I415V|FNIP1_ENST00000514667.1_Missense_Mutation_p.I465V|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.I415V|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.I415V|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.I415V|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.I130V NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 415 N-terminal Ras-GEF. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) TTGATCACAATGTGTCCTTTC 0.363000 21 129 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179594882 179594882 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:179594882T>A ENST00000589042.1 - 62 18469 c.18245A>T c.(18244-18246)tAc>tTc p.Y6082F TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y5765F|TTN_ENST00000342992.6_Missense_Mutation_p.Y4838F|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5765 Ig-like 42. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGGCAAATGTAGGTTCCAGA 0.468000 6 31 0 0 1 0 0 SLAMF7 57823 broad.mit.edu 37 1 160721138 160721138 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:160721138A>T ENST00000368043.3 + 5 810 c.773A>T c.(772-774)tAc>tTc p.Y258F SLAMF7_ENST00000458602.2_Missense_Mutation_p.Y111F|SLAMF7_ENST00000441662.2_Missense_Mutation_p.Y127F|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000359331.4_Intron|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000368042.3_Missense_Mutation_p.Y151F NM_021181.3 NP_067004.3 Q9NQ25 SLAF7_HUMAN SLAM family member 7 258 cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CTTTTAGAGTACATTGAAGAG 0.483000 24 166 0 0 1 0 0 VNN3 55350 broad.mit.edu 37 6 133055416 133055416 + Nonsense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:133055416C>T ENST00000425515.2 - 2 392 c.320G>A c.(319-321)tGg>tAg p.W107* VNN3_ENST00000367927.5_Nonsense_Mutation_p.W107*|VNN3_ENST00000509351.1_Nonsense_Mutation_p.W107*|VNN3_ENST00000519686.2_Nonsense_Mutation_p.W107*|VNN3_ENST00000414302.2_Nonsense_Mutation_p.W107*|VNN3_ENST00000427187.2_Nonsense_Mutation_p.W107*|VNN3_ENST00000392394.2_Nonsense_Mutation_p.W107*|VNN3_ENST00000207771.3_Nonsense_Mutation_p.W107*|VNN3_ENST00000450865.2_Nonsense_Mutation_p.W108*|VNN3_ENST00000417437.2_Nonsense_Mutation_p.W139*|VNN3_ENST00000392393.3_Nonsense_Mutation_p.W107*|VNN3_ENST00000275223.3_Nonsense_Mutation_p.W107*|VNN3_ENST00000423615.2_Nonsense_Mutation_p.W107* vanin 3 cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168) ACATGGAATCCAGTTCACTCC 0.398000 11 64 0 0 1 0 0 TAF2 6873 broad.mit.edu 37 8 120759150 120759150 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:120759150C>A ENST00000378164.2 - 23 3201 c.2903G>T c.(2902-2904)cGg>cTg p.R968L TAF2_ENST00000519355.1_5'UTR NM_003184.3 NP_003175.1 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 968 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) AGCACCACACCGTAACCTCCA 0.403000 12 61 0.00136819 0.0015572 1 1 0 MTRR 4552 broad.mit.edu 37 5 7892985 7892985 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:7892985C>A ENST00000264668.2 + 11 1627 c.1597C>A c.(1597-1599)Cat>Aat p.H533N MTRR_ENST00000440940.2_Missense_Mutation_p.H506N NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 533 FAD-binding FR-type. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) GCCAAACATACATGCATCCCA 0.453000 12 74 0.000978159 0.00112538 1 1 0 SEPT7P2 641977 broad.mit.edu 37 7 45797685 45797685 + RNA SNP T T G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:45797685T>G ENST00000429741.1 - 0 487 CAGTGCACCCTGTTACCAGGC 0.393000 6 28 0 0 1 0 0 KIAA1683 80726 broad.mit.edu 37 19 18368436 18368436 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:18368436A>T ENST00000392413.3 - 4 3873 c.3658T>A c.(3658-3660)Tgc>Agc p.C1220S KIAA1683_ENST00000600359.2_Missense_Mutation_p.C987S|KIAA1683_ENST00000600328.2_Missense_Mutation_p.C1033S NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 0 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 GACTGGAAGCAGCGATGGTCA 0.667000 5 33 0 0 1 0 0 COL25A1 84570 broad.mit.edu 37 4 109767304 109767304 + Silent SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:109767304A>T ENST00000399132.1 - 28 2036 c.1506T>A c.(1504-1506)ccT>ccA p.P502P COL25A1_ENST00000399127.1_Silent_p.P475P|COL25A1_ENST00000399126.1_Silent_p.P502P NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 502 Collagen-like 6. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CCGGTAATCCAGGAAGTCCAA 0.343000 13 78 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34072770 34072770 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:34072770C>T ENST00000254466.6 - 6 1773 c.1746G>A c.(1744-1746)gaG>gaA p.E582E GAS2L2_ENST00000587565.1_Silent_p.E566E NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 582 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GCCCCTCCTGCTCCTGTAGGC 0.597000 8 65 0 0 1 0 0 NPAS3 64067 broad.mit.edu 37 14 34269178 34269178 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:34269178C>A ENST00000346562.2 + 11 1643 c.1569C>A c.(1567-1569)atC>atA p.I523I NPAS3_ENST00000356141.4_Silent_p.I555I|NPAS3_ENST00000548645.1_Silent_p.I525I|NPAS3_ENST00000357798.5_Silent_p.I542I|NPAS3_ENST00000551492.1_Silent_p.I560I NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 555 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) CGATGCAGATCAAGGTGGAGC 0.662000 4 35 0.00024832 0.000296266 1 1 0 OR13D1 286365 broad.mit.edu 37 9 107457248 107457248 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:107457248C>G ENST00000318763.5 + 1 589 c.546C>G c.(544-546)atC>atG p.I182M NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 182 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 GGTCCTGGATCATAGGCTGTC 0.463000 8 141 0 0 1 0 0 CLUAP1 23059 broad.mit.edu 37 16 3565567 3565567 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:3565567G>T ENST00000571025.1 + 6 605 c.555G>T c.(553-555)atG>atT p.M185I CLUAP1_ENST00000576634.1_Missense_Mutation_p.M185I|CLUAP1_ENST00000341633.5_Missense_Mutation_p.M185I|CLUAP1_ENST00000572600.1_Missense_Mutation_p.M19I|CLUAP1_ENST00000417763.2_Missense_Mutation_p.M19I Q96AJ1 CLUA1_HUMAN clusterin associated protein 1 185 nucleus protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2) 16 AAAAAGTGATGAGAATTGCAA 0.328000 7 61 8.12818e-05 9.91291e-05 1 1 0 YIPF1 54432 broad.mit.edu 37 1 54332053 54332053 + Silent SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:54332053T>A ENST00000072644.1 - 9 987 c.651A>T c.(649-651)atA>atT p.I217I YIPF1_ENST00000539954.1_Silent_p.I242I|YIPF1_ENST00000371399.1_Silent_p.I34I|YIPF1_ENST00000469457.1_5'UTR NM_018982.4 NP_061855.1 Q9Y548 YIPF1_HUMAN Yip1 domain family, member 1 217 integral to membrane|transport vesicle endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2) 19 TAATCCACAGTATCTGAAAGA 0.488000 6 49 0 0 1 0 0 OR2G6 391211 broad.mit.edu 37 1 248685890 248685890 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:248685890A>G ENST00000343414.4 + 1 975 c.943A>G c.(943-945)Aag>Gag p.K315E NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 315 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACAAAGCCACAAGGACTAGGA 0.488000 10 53 0 0 1 0 0 LCE1C 353133 broad.mit.edu 37 1 152777655 152777655 + Silent SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:152777655C>G ENST00000368768.1 - 2 350 c.300G>C c.(298-300)tcG>tcC p.S100S LCE1C_ENST00000607093.1_Silent_p.S100S NM_178351.3 NP_848128.1 Q5T751 LCE1C_HUMAN late cornified envelope 1C 100 Gly-rich. keratinization NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1) 9 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TGGAGCCCCCCGAGGGCTGGC 0.672000 10 76 0 0 1 0 0 NPIPB7 440350 broad.mit.edu 37 16 28468325 28468325 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:28468325T>C ENST00000452313.1 - 7 773 c.665A>G c.(664-666)cAt>cGt p.H222R AGAATGACAATGCTCCGCTGC 0.483000 16 87 0 0 1 0 0 PTAFR 5724 broad.mit.edu 37 1 28476541 28476541 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:28476541G>A ENST00000373857.3 - 2 1626 c.992C>T c.(991-993)cCa>cTa p.P331L PTAFR_ENST00000305392.3_Missense_Mutation_p.P331L|PTAFR_ENST00000539896.1_Missense_Mutation_p.P331L NM_000952.4|NM_001164722.2|NM_001164723.2 NP_000943.1|NP_001158194.1|NP_001158195.1 P25105 PTAFR_HUMAN platelet-activating factor receptor 331 chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1) 15 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) CTGGTTGAATGGCACAACCAC 0.527000 21 84 0 0 1 0 0 OR11G2 390439 broad.mit.edu 37 14 20665761 20665761 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:20665761G>T ENST00000357366.3 + 1 267 c.267G>T c.(265-267)tgG>tgT p.W89C NM_001005503.1 NP_001005503.1 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, member 2 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) CTGTGCACTGGGATCAGAGAC 0.547000 14 106 2.62699e-14 4.99464e-14 1 1 0 SSTR2 6752 broad.mit.edu 37 17 71166526 71166526 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:71166526C>A ENST00000357585.2 + 2 1437 c.1068C>A c.(1066-1068)acC>acA p.T356T RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Intron NM_001050.2 NP_001041.1 P30874 SSR2_HUMAN somatostatin receptor 2 356 digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity endometrium(2)|large_intestine(5)|lung(2)|prostate(2) 11 LUSC - Lung squamous cell carcinoma(166;0.197) CCACGGAGACCCAGAGGACCC 0.562000 8 69 2.17888e-05 2.77601e-05 1 1 0 CLCN1 1180 broad.mit.edu 37 7 143028323 143028323 + Splice_Site SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:143028323A>T ENST00000343257.2 + 9 1066 c.e9-1 NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) TCCATCCTACAGTCACCATCA 0.483000 16 94 0 0 1 0 0 OR8A1 390275 broad.mit.edu 37 11 124440079 124440079 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:124440079G>T ENST00000284287.3 + 1 187 c.115G>T c.(115-117)Gac>Tac p.D39Y NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) GAAGAGAGCAGACCTCCAGCT 0.527000 16 84 2.23348e-06 3.04435e-06 1 1 0 IL16 3603 broad.mit.edu 37 15 81592487 81592487 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:81592487G>T ENST00000394660.2 + 14 3180 c.2820G>T c.(2818-2820)ccG>ccT p.P940P IL16_ENST00000394652.2_Silent_p.P239P|IL16_ENST00000302987.4_Silent_p.P940P NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 940 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 GCCCGGACCCGCTCCTAAGGC 0.652000 9 49 7.48243e-07 1.05882e-06 1 1 0 RNF10 9921 broad.mit.edu 37 12 121000748 121000748 + Splice_Site SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:121000748A>G ENST00000325954.4 + 8 1590 c.1128_splice c.e8-1 p.T377_splice RNF10_ENST00000413266.2_Splice_Site_p.T377_splice NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 377 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCCACGTTAGACTCGGGAAGA 0.542000 10 63 0 0 1 0 0 OAS2 4939 broad.mit.edu 37 12 113442939 113442939 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:113442939G>A ENST00000392583.2 + 7 1587 c.1380G>A c.(1378-1380)aaG>aaA p.K460K RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Silent_p.K460K NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 460 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CCAAGTGGAAGGCTCCCAGGG 0.512000 10 55 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64120308 64120308 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:64120308G>T ENST00000356786.5 + 20 3493 c.3449G>T c.(3448-3450)cGg>cTg p.R1150L CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.R302L|CCDC88B_ENST00000301897.4_5'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 1150 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GATGGGCATCGGCAGCGGGGC 0.687000 4 19 0.150653 0.154188 1 1 0 PLXND1 23129 broad.mit.edu 37 3 129290685 129290685 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:129290685C>A ENST00000393239.1 - 16 3258 c.3080G>T c.(3079-3081)cGc>cTc p.R1027L PLXND1_ENST00000324093.4_Missense_Mutation_p.R1027L Q9Y4D7 PLXD1_HUMAN plexin D1 1027 IPT/TIG 2. axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 GGTATCTGTGCGCCTGGGGGG 0.677000 3 14 0.115264 0.119286 1 1 0 FTSJ3 117246 broad.mit.edu 37 17 61904229 61904229 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:61904229G>T ENST00000427159.2 - 2 679 c.34C>A c.(34-36)Cga>Aga p.R12R NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 12 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 AACTTGTCTCGTCGGCTCTTG 0.567000 21 63 5.35356e-11 9.28576e-11 1 1 0 OR10X1 128367 broad.mit.edu 37 1 158549267 158549267 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:158549267G>T ENST00000368150.1 - 1 422 c.423C>A c.(421-423)gcC>gcA p.A141A NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) GGTTACAGATGGCCAGGAAGC 0.453000 6 81 3.59834e-05 4.51849e-05 1 1 0 LRRC15 131578 broad.mit.edu 37 3 194081387 194081387 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:194081387G>T ENST00000347624.3 - 2 471 c.386C>A c.(385-387)tCt>tAt p.S129Y LRRC15_ENST00000439944.2_Missense_Mutation_p.S135Y|LRRC15_ENST00000428839.1_Missense_Mutation_p.S135Y NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 129 integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) CAGAAGGAGAGACTCGAGGCT 0.607000 7 78 0.0293803 0.0309453 1 1 0 CRIP3 401262 broad.mit.edu 37 6 43273595 43273595 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:43273595A>G ENST00000372569.3 - 8 576 c.572T>C c.(571-573)gTg>gCg p.V191A CRIP3_ENST00000274990.4_3'UTR NM_206922.2 NP_996805.2 Q6Q6R5 CRIP3_HUMAN cysteine-rich protein 3 72 cytoplasm zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) GTAGCAGCCCACATCGCCAAT 0.542000 9 54 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100585731 100585731 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:100585731G>T ENST00000471714.1 - 10 1110 c.1001C>A c.(1000-1002)cCc>cAc p.P334H ABI3BP_ENST00000284322.5_Missense_Mutation_p.P334H|ABI3BP_ENST00000495063.1_Missense_Mutation_p.P334H Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 334 extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 ACCTGTTGTGGGTCGTGCTGA 0.363000 7 43 0.27861 0.281457 1 1 0 OR52E6 390078 broad.mit.edu 37 11 5862647 5862647 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:5862647G>T ENST00000329322.5 - 1 480 c.481C>A c.(481-483)Ctg>Atg p.L161M TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.L165M NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGAAACACCAGTGGAATGACC 0.498000 23 122 1.87028e-06 2.58252e-06 1 1 0 PCDHGA2 56113 broad.mit.edu 37 5 140720216 140720216 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:140720216C>A ENST00000394576.2 + 1 1678 c.1678C>A c.(1678-1680)Ccc>Acc p.P560T PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGACAACGCGCCCGAGATCCT 0.622000 26 181 4.59853e-10 7.67975e-10 1 1 0 TDGF1P3 6998 broad.mit.edu 37 X 109764342 109764342 + RNA SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:109764342C>A ENST00000602699.1 + 0 803 NR_002718.2 TCTTTTCCCCCTAATTGTTAA 0.408000 17 91 2.35005e-26 4.82037e-26 1 1 0 CYLC2 1539 broad.mit.edu 37 9 105766997 105766997 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:105766997A>T ENST00000374798.3 + 4 271 c.201A>T c.(199-201)ttA>ttT p.L67F CYLC2_ENST00000487798.1_Missense_Mutation_p.L67F NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 67 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) AAGAACAATTAAGAGGAGATC 0.338000 9 39 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77147246 77147246 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:77147246C>A ENST00000461745.1 + 2 1043 c.143C>A c.(142-144)aCg>aAg p.T48K ROBO2_ENST00000332191.8_Missense_Mutation_p.T48K|ROBO2_ENST00000487694.3_Missense_Mutation_p.T64K NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 48 Ig-like C2-type 1. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding p.T48K(1) NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GGCGAGCCCACGACTCTGAAC 0.592000 5 27 0.0215528 0.0228632 1 1 0 SLC23A2 9962 broad.mit.edu 37 20 4855259 4855259 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:4855259C>G ENST00000379333.1 - 10 1300 c.908G>C c.(907-909)tGg>tCg p.W303S SLC23A2_ENST00000338244.1_Missense_Mutation_p.W303S|SLC23A2_ENST00000424750.2_Missense_Mutation_p.W189S|SLC23A2_ENST00000468355.1_5'UTR NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 303 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 GTACGCAGTCCATCCTTTCTT 0.378000 19 172 0 0 1 0 0 CABS1 85438 broad.mit.edu 37 4 71201520 71201520 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:71201520C>T ENST00000273936.4 + 1 823 c.764C>T c.(763-765)gCt>gTt p.A255V NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 255 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AGTGCTGTGGCTACATTAACT 0.388000 7 109 0 0 1 0 0 ICOS 29851 broad.mit.edu 37 2 204820589 204820589 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:204820589T>C ENST00000316386.6 + 2 356 c.289T>C c.(289-291)Tac>Cac p.Y97H ICOS_ENST00000435193.1_Missense_Mutation_p.Y97H NM_012092.3 NP_036224.1 Q9Y6W8 ICOS_HUMAN inducible T-cell co-stimulator 97 Ig-like V-type. immune response|T cell costimulation extracellular region breast(1)|large_intestine(1)|lung(4) 6 TTTTTTTCTATACAACTTGGA 0.368000 21 74 0 0 1 0 0 TTLL5 23093 broad.mit.edu 37 14 76198730 76198730 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:76198730G>T ENST00000298832.9 + 13 1297 c.1092G>T c.(1090-1092)ttG>ttT p.L364F TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Missense_Mutation_p.L364F NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 364 TTL. protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) AGCCATGGTTGTTGGAAGTGA 0.363000 15 67 2.48551e-13 4.61327e-13 1 1 0 CSMD2 114784 broad.mit.edu 37 1 34049273 34049273 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:34049273C>A ENST00000373381.4 - 47 7385 c.7209G>T c.(7207-7209)gaG>gaT p.E2403D NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2405 CUB 14. integral to membrane|plasma membrane protein binding p.E2405E(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CATATTGCTTCTCGCTGAGGA 0.502000 31 137 1.80694e-10 3.06953e-10 1 1 0 CRAMP1L 57585 broad.mit.edu 37 16 1706025 1706025 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:1706025A>G ENST00000397412.3 + 10 1366 c.1267A>G c.(1267-1269)Aca>Gca p.T423A LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.T420A|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.T423A|CRAMP1L_ENST00000262317.4_Intron Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 423 nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 GGCCTTCTGCACAGTGCACTG 0.657000 7 24 0 0 1 0 0 CHRD 8646 broad.mit.edu 37 3 184103932 184103932 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:184103932G>T ENST00000204604.1 + 15 2163 c.1917G>T c.(1915-1917)ggG>ggT p.G639G CHRD_ENST00000545352.1_Silent_p.G269G|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Silent_p.G639G|CHRD_ENST00000348986.3_Silent_p.G599G NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 639 CHRD 4. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCCCCAGAGGGGAGCTCCGAG 0.642000 8 52 5.18039e-06 6.86552e-06 1 1 0 SETBP1 26040 broad.mit.edu 37 18 42530251 42530251 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:42530251G>T ENST00000282030.5 + 4 1242 c.946G>T c.(946-948)Gat>Tat p.D316Y NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 316 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GCCCTTGGTGGATCAAGATGG 0.547000 Schinzel-Giedion syndrome 9 92 1.08611e-07 1.63191e-07 1 1 0 REXO2 25996 broad.mit.edu 37 11 114316770 114316770 + Missense_Mutation SNP A A G rs144984096 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:114316770A>G ENST00000265881.5 + 5 634 c.491A>G c.(490-492)tAt>tGt p.Y164C REXO2_ENST00000539275.1_Intron|REXO2_ENST00000538791.1_Missense_Mutation_p.Y74C|REXO2_ENST00000539754.1_Missense_Mutation_p.Y149C NM_015523.3 NP_056338.2 Q9Y3B8 ORN_HUMAN RNA exonuclease 2 164 Exonuclease. nucleotide metabolic process mitochondrion|nucleus 3'-5' exonuclease activity|nucleic acid binding cervix(1)|endometrium(1)|kidney(1)|lung(1) 4 all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104) BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494) CATCTTCATTATAGAATAATT 0.333000 32 168 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175052939 175052939 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:175052939G>T ENST00000239462.4 + 5 1215 c.1102G>T c.(1102-1104)Gac>Tac p.D368Y NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 368 Fibronectin type-III 2. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GAACTCCCTTGACGTGGAGTG 0.567000 10 59 3.07112e-06 4.13291e-06 1 1 0 C11orf30 56946 broad.mit.edu 37 11 76255427 76255427 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:76255427A>G ENST00000529032.1 + 18 2834 c.2834A>G c.(2833-2835)cAg>cGg p.Q945R C11orf30_ENST00000524490.1_Missense_Mutation_p.Q847R|C11orf30_ENST00000343878.3_Missense_Mutation_p.Q945R|C11orf30_ENST00000334736.3_Missense_Mutation_p.Q945R|C11orf30_ENST00000525919.1_Missense_Mutation_p.Q946R|C11orf30_ENST00000533248.1_Missense_Mutation_p.Q854R|C11orf30_ENST00000524767.1_Missense_Mutation_p.Q960R|C11orf30_ENST00000525038.1_Missense_Mutation_p.Q946R Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 945 Gln-rich. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 GCCCTGACTCAGTCACAGTCA 0.512000 9 92 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40036947 40036947 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr22:40036947G>T ENST00000336649.4 + 8 816 c.816G>T c.(814-816)tcG>tcT p.S272S CACNA1I_ENST00000400164.3_Silent_p.S272S|CACNA1I_ENST00000401624.1_Silent_p.S272S|CACNA1I_ENST00000404898.1_Silent_p.S272S|CACNA1I_ENST00000407673.1_Silent_p.S272S|CACNA1I_ENST00000402142.3_Silent_p.S272S Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 272 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GCTCCCTGTCGGGCGACAATG 0.612000 5 23 1.23904e-05 1.602e-05 1 1 0 VAT1L 57687 broad.mit.edu 37 16 77918547 77918547 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:77918547G>A ENST00000302536.2 + 7 1078 c.925G>A c.(925-927)Gag>Aag p.E309K NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 309 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 GCTGTATGAGGAGAACAAAGT 0.502000 7 29 0 0 1 0 0 CATSPERG 57828 broad.mit.edu 37 19 38850212 38850212 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:38850212G>A ENST00000409235.3 + 14 1714 c.1599G>A c.(1597-1599)gaG>gaA p.E533E CATSPERG_ENST00000410018.1_Silent_p.E493E|CATSPERG_ENST00000215069.4_Intron NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 533 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 TTGTCACAGAGACGGAGGAGG 0.592000 4 23 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196254836 196254836 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:196254836G>A ENST00000367433.5 - 22 2677 c.2576C>T c.(2575-2577)gCt>gTt p.A859V KCNT2_ENST00000294725.8_Missense_Mutation_p.A883V|KCNT2_ENST00000367431.4_Missense_Mutation_p.A809V|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 883 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 CCTCCCAGCAGCAAAAGGCAG 0.368000 10 46 0 0 1 0 0 C11orf24 53838 broad.mit.edu 37 11 68029452 68029452 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:68029452C>A ENST00000304271.6 - 4 1413 c.1011G>T c.(1009-1011)ggG>ggT p.G337G C11orf24_ENST00000533310.1_Intron NM_022338.3 NP_071733.1 Q96F05 CK024_HUMAN chromosome 11 open reading frame 24 337 integral to membrane endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1) 13 ATGTGCCTGGCCCAGCGGCCC 0.627000 10 41 4.68919e-08 7.19883e-08 1 1 0 TRIM42 287015 broad.mit.edu 37 3 140401611 140401611 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:140401611C>G ENST00000286349.3 + 2 840 c.649C>G c.(649-651)Cgc>Ggc p.R217G NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 217 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TCTCACCAAGCGCTACATGCA 0.617000 18 82 0 0 1 0 0 INSM2 84684 broad.mit.edu 37 14 36004579 36004579 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:36004579G>A ENST00000307169.3 + 1 1332 c.1121G>A c.(1120-1122)gGg>gAg p.G374E NM_032594.3 NP_115983.3 Q96T92 INSM2_HUMAN insulinoma-associated 2 374 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 10 Breast(36;0.122)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452) GBM - Glioblastoma multiforme(112;0.0223) GACAGCTCCGGGGCGGATCAG 0.682000 9 74 0 0 1 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140730107 140730107 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:140730107G>A ENST00000523390.1 + 1 280 c.280G>A c.(280-282)Gga>Aga p.G94R PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAGATTTGCGGAAGGAAACT 0.423000 OREG0016856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 54 0 0 1 0 0 MFSD11 79157 broad.mit.edu 37 17 74765851 74765851 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:74765851G>T ENST00000588460.1 + 10 2814 c.772G>T c.(772-774)Ggt>Tgt p.G258C MFSD11_ENST00000593181.1_Missense_Mutation_p.G206C|MFSD11_ENST00000355954.3_Missense_Mutation_p.G206C|MFSD11_ENST00000336509.4_Missense_Mutation_p.G258C|MFSD11_ENST00000586622.1_Missense_Mutation_p.G258C|MFSD11_ENST00000590514.1_Missense_Mutation_p.G258C NM_001242534.1 NP_001229463.1 O43934 MFS11_HUMAN major facilitator superfamily domain containing 11 258 integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 TTTCTTCTCTGGTGTATATGG 0.328000 32 112 1.80694e-10 3.06953e-10 1 1 0 LATS2 26524 broad.mit.edu 37 13 21565414 21565414 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr13:21565414G>A ENST00000382592.4 - 3 877 c.472C>T c.(472-474)Cca>Tca p.P158S LATS2_ENST00000542899.1_Missense_Mutation_p.P158S|LATS2_ENST00000472754.1_5'UTR NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 158 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) GGCTCACCTGGGGAGGTCTGC 0.592000 10 75 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116443771 116443771 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:116443771C>A ENST00000281928.3 - 13 2578 c.2372G>T c.(2371-2373)aGa>aTa p.R791I NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 791 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GGAGCCAGCTCTGCCAGCAGC 0.493000 17 74 1.99824e-07 2.95452e-07 1 1 0 POTEC 388468 broad.mit.edu 37 18 14542946 14542946 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:14542946T>A ENST00000358970.5 - 1 199 c.200A>T c.(199-201)cAc>cTc p.H67L POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 67 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GGGGAAGCAGTGGTGGCAACA 0.572000 33 392 0 0 1 0 0 ZBTB16 7704 broad.mit.edu 37 11 114113009 114113009 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:114113009G>C ENST00000335953.4 + 5 1954 c.1574G>C c.(1573-1575)cGc>cCc p.R525P ZBTB16_ENST00000392996.2_Missense_Mutation_p.R525P|RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 525 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) GAGTGCAACCGCACCTTCCCC 0.632000 4 32 0 0 1 0 0 ANXA2R 389289 broad.mit.edu 37 5 43039635 43039635 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:43039635C>A ENST00000314890.3 - 2 1933 c.514G>T c.(514-516)Gtt>Ttt p.V172F NM_001014279.2 NP_001014301.1 Q3ZCQ2 AX2R_HUMAN annexin A2 receptor 172 receptor activity GCAAAACCAACGCGAAGAATC 0.587000 OREG0016598 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 77 1.12685e-05 1.46718e-05 1 1 0 DNMT3A 1788 broad.mit.edu 37 2 25458603 25458603 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:25458603T>A ENST00000264709.3 - 22 2907 c.2570A>T c.(2569-2571)gAc>gTc p.D857V DNMT3A_ENST00000321117.5_Missense_Mutation_p.D857V|DNMT3A_ENST00000380746.4_Missense_Mutation_p.D668V|DNMT3A_ENST00000402667.1_Missense_Mutation_p.D634V|DNMT3A_ENST00000474887.1_5'UTR NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 857 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCATAAGATGTCCTCTTTCTC 0.498000 """Mis, F, N, S""" AML 18 67 0 0 1 0 0 SDE2 163859 broad.mit.edu 37 1 226175989 226175989 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:226175989C>A ENST00000272091.7 - 6 760 c.742G>T c.(742-744)Gct>Tct p.A248S SDE2_ENST00000366817.1_Missense_Mutation_p.A153S NM_152608.3 NP_689821.3 SDE2 telomere maintenance homolog (S. pombe) ATTTTTGGAGCATGGAAACCC 0.493000 18 238 8.00594e-06 1.05442e-05 1 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125671702 125671702 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:125671702G>T ENST00000431078.1 + 24 4122 c.3758G>T c.(3757-3759)tGt>tTt p.C1253F NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 1253 cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) ATCATCTTCTGTATCATCGGC 0.473000 24 157 3.08376e-08 4.7787e-08 1 1 0 PSCA 8000 broad.mit.edu 37 8 143763462 143763462 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:143763462G>T ENST00000301258.4 + 3 340 c.257G>T c.(256-258)aGc>aTc p.S86I NM_005672.4 NP_005663.2 D3DWI6 D3DWI6_HUMAN prostate stem cell antigen 86 endometrium(1)|large_intestine(1) 2 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TGCAACGCCAGCGGGGCCCAT 0.637000 6 20 2.0095e-06 2.75169e-06 1 1 0 PRTG 283659 broad.mit.edu 37 15 56032796 56032796 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:56032796G>T ENST00000389286.4 - 2 228 c.181C>A c.(181-183)Cag>Aag p.Q61K PRTG_ENST00000561292.1_Missense_Mutation_p.Q61K NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 61 Ig-like 1. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) CCGTGAGCCTGGCAATCTAAA 0.398000 24 180 3.5997e-14 6.80045e-14 1 1 0 UNC45B 146862 broad.mit.edu 37 17 33495266 33495266 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:33495266C>G ENST00000268876.5 + 10 1435 c.1338C>G c.(1336-1338)atC>atG p.I446M UNC45B_ENST00000394570.2_Missense_Mutation_p.I446M|UNC45B_ENST00000378449.1_Missense_Mutation_p.I446M|UNC45B_ENST00000433649.1_Missense_Mutation_p.I446M|UNC45B_ENST00000591048.1_Missense_Mutation_p.I446M NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 446 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) AGGCCCTCATCCATGCCTCCA 0.552000 14 53 0 0 1 0 0 CDR1 1038 broad.mit.edu 37 X 139865906 139865906 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:139865906G>A ENST00000370532.2 - 1 817 c.626C>T c.(625-627)tCc>tTc p.S209F NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 209 breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) ACATCTTCCGGAAAAAATCCA 0.443000 38 193 0 0 1 0 0 F7 2155 broad.mit.edu 37 13 113771153 113771153 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr13:113771153G>A ENST00000375581.3 + 7 680 c.645G>A c.(643-645)ggG>ggA p.G215G F7_ENST00000346342.3_Silent_p.G193G|F7_ENST00000541084.1_Silent_p.G146G NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 215 Peptidase S1. anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) GAATTGTGGGGGGCAAGGTGT 0.473000 13 68 0 0 1 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835790 12835790 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:12835790G>T ENST00000357726.4 + 2 419 c.392G>T c.(391-393)cGa>cTa p.R131L NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 131 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AGTAAGAGACGAACAGCAGGG 0.542000 26 133 2.41591e-17 4.73289e-17 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168104966 168104966 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:168104966C>G ENST00000409195.1 + 9 7153 c.7064C>G c.(7063-7065)tCt>tGt p.S2355C XIRP2_ENST00000409273.1_Missense_Mutation_p.S2133C|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2355C|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2180 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GATGAGAAATCTGAAAGAGAA 0.478000 24 156 0 0 1 0 0 MYO10 4651 broad.mit.edu 37 5 16701632 16701632 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:16701632C>A ENST00000513610.1 - 25 3326 c.2872G>T c.(2872-2874)Gag>Tag p.E958* MYO10_ENST00000505695.1_Nonsense_Mutation_p.E297*|MYO10_ENST00000274203.9_Nonsense_Mutation_p.E315*|MYO10_ENST00000515803.1_Nonsense_Mutation_p.E297*|MYO10_ENST00000427430.2_Nonsense_Mutation_p.E315* NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 958 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 AGGGACCGCTCGATATTCCGG 0.612000 6 39 8.12818e-05 9.91291e-05 1 1 0 ASTN1 460 broad.mit.edu 37 1 177001594 177001594 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:177001594G>T ENST00000367654.2 - 3 876 c.863C>A c.(862-864)cCa>cAa p.P288Q ASTN1_ENST00000424564.2_Missense_Mutation_p.P288Q|ASTN1_ENST00000361833.2_Missense_Mutation_p.P288Q|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.P288Q O14525 ASTN1_HUMAN astrotactin 1 288 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 ATCCCCACCTGGTGTGAGGTC 0.592000 16 108 0.00074312 0.000858292 1 1 0 NCR1 9437 broad.mit.edu 37 19 55420614 55420614 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:55420614C>A ENST00000594765.1 + 4 391 c.366C>A c.(364-366)gaC>gaA p.D122E NCR1_ENST00000338835.5_Missense_Mutation_p.D122E|NCR1_ENST00000357397.5_Missense_Mutation_p.D15E|NCR1_ENST00000598576.1_Missense_Mutation_p.D110E|NCR1_ENST00000291890.4_Missense_Mutation_p.D122E|NCR1_ENST00000447255.1_Missense_Mutation_p.D122E|NCR1_ENST00000350790.5_Missense_Mutation_p.D27E O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 122 cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) AAATGTATGACACACCCACCC 0.483000 6 41 0.0215528 0.0228632 1 1 0 TG 7038 broad.mit.edu 37 8 133913597 133913597 + Splice_Site SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:133913597G>T ENST00000220616.4 + 16 3473 c.e16-1 TG_ENST00000377869.1_Splice_Site NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CTCTGTGTCAGGCCCAAGCCT 0.627000 16 75 2.32078e-09 3.76969e-09 1 1 0 SELP 6403 broad.mit.edu 37 1 169572428 169572428 + Missense_Mutation SNP A A C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:169572428A>C ENST00000263686.6 - 10 1578 c.1541T>G c.(1540-1542)cTa>cGa p.L514R SELP_ENST00000367792.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.L452R|SELP_ENST00000367794.2_Missense_Mutation_p.L452R|SELP_ENST00000367791.2_Missense_Mutation_p.L390R|SELP_ENST00000367786.2_Missense_Mutation_p.L452R|SELP_ENST00000458599.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.L452R NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 514 Sushi 6. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CTGAGGGCTTAGCAAAGGTGT 0.423000 10 144 0 0 1 0 0 IKBKB 3551 broad.mit.edu 37 8 42177128 42177128 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:42177128G>C ENST00000520810.1 + 15 1728 c.1542G>C c.(1540-1542)tgG>tgC p.W514C IKBKB_ENST00000379708.3_Missense_Mutation_p.W291C|IKBKB_ENST00000522785.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.W512C|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000416505.2_Missense_Mutation_p.W455C NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 514 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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 CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) TGCTGGCCTGGAGGGAAATGG 0.428000 OREG0018747 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 36 0 0 1 0 0 IL21R 50615 broad.mit.edu 37 16 27459864 27459864 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:27459864G>T ENST00000337929.3 + 9 1350 c.877G>T c.(877-879)Ggt>Tgt p.G293C IL21R_ENST00000564089.1_Missense_Mutation_p.G293C|IL21R_ENST00000564583.1_3'UTR|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.G293C|IL21R_ENST00000395755.1_Missense_Mutation_p.G293C NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 293 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 GAAATGGGTGGGTGCACCCTT 0.542000 T BCL6 NHL 4 27 0.000602214 0.000697722 1 1 0 ZFPM2 23414 broad.mit.edu 37 8 106813842 106813842 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:106813842C>T ENST00000407775.2 + 8 1782 c.1532C>T c.(1531-1533)cCt>cTt p.P511L ZFPM2_ENST00000520492.1_Missense_Mutation_p.P379L|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P242L|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P379L|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 511 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) ACCATGGTCCCTCAAGCTTCA 0.498000 31 166 0 0 1 0 0 GATA3 2625 broad.mit.edu 37 10 8100626 8100626 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:8100626C>G ENST00000379328.3 + 3 1168 c.600C>G c.(598-600)caC>caG p.H200Q GATA3_ENST00000346208.3_Missense_Mutation_p.H200Q|GATA3_ENST00000461472.1_3'UTR NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 200 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 AGTCGTCCCACTCCCGTGGCA 0.677000 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 12 90 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76886496 76886496 + Nonsense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:76886496A>T ENST00000409709.3 + 18 2445 c.2173A>T c.(2173-2175)Aag>Tag p.K725* MYO7A_ENST00000458637.2_Nonsense_Mutation_p.K725*|MYO7A_ENST00000409893.1_Nonsense_Mutation_p.K725*|MYO7A_ENST00000409619.2_Nonsense_Mutation_p.K714* NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 725 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AGGCAAAACCAAGATCTTTCT 0.622000 14 125 0 0 1 0 0 ZNF2 7549 broad.mit.edu 37 2 95847781 95847781 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:95847781G>T ENST00000398107.2 + 4 1604 c.1082G>T c.(1081-1083)tGt>tTt p.C361F ZNF2_ENST00000425369.1_Missense_Mutation_p.C323F|ZNF2_ENST00000295210.6_Missense_Mutation_p.C365F|ZNF2_ENST00000453539.2_Missense_Mutation_p.C416F|ZNF2_ENST00000340539.5_Missense_Mutation_p.C403F NM_001017396.1 NP_001017396.1 Q9BSG1 ZNF2_HUMAN zinc finger protein 2 402 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 12 Ovarian(717;0.00768) READ - Rectum adenocarcinoma(193;0.0222) TGCACTGTGTGTGGGAAAGTT 0.507000 13 103 0.00010058 0.000121664 1 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88885054 88885054 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:88885054G>T ENST00000319675.3 - 1 1242 c.1146C>A c.(1144-1146)ctC>ctA p.L382L NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 382 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 GGACAGCCATGAGCAGCCCTG 0.552000 5 63 0.184627 0.187793 1 1 0 DSEL 92126 broad.mit.edu 37 18 65180485 65180485 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:65180485T>C ENST00000310045.7 - 2 2864 c.1391A>G c.(1390-1392)tAt>tGt p.Y464C CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 454 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) AATCCAGGAATATGGCTGAAA 0.453000 15 95 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152286189 152286189 + Silent SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:152286189T>C ENST00000368799.1 - 3 1208 c.1173A>G c.(1171-1173)tcA>tcG p.S391S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 391 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGCTGTCTGCTGACTGCTGGT 0.587000 Ichthyosis 89 582 0 0 1 0 0 PRSS38 339501 broad.mit.edu 37 1 228003539 228003539 + Missense_Mutation SNP A A C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:228003539A>C ENST00000366757.3 + 1 146 c.122A>C c.(121-123)cAg>cCg p.Q41P NM_183062.2 NP_898885.1 A1L453 PRS38_HUMAN protease, serine, 38 41 proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 CCAGAGAACCAGGGAATCTCC 0.692000 4 18 0 0 1 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141231578 141231578 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:141231578C>A ENST00000389328.4 - 17 2844 c.2830G>T c.(2830-2832)Ggc>Tgc p.G944C TRAPPC9_ENST00000389327.3_Missense_Mutation_p.G837C|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.G846C NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 846 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 CTGTAGTCGCCTGCTTTGTTG 0.582000 7 86 0.00198382 0.00224067 1 1 0 AQP10 89872 broad.mit.edu 37 1 154295748 154295748 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:154295748G>T ENST00000484864.1 + 4 438 c.402G>T c.(400-402)ctG>ctT p.L134L AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Silent_p.L134L Q96PS8 AQP10_HUMAN aquaporin 10 134 response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1) 23 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GTGGGAACCTGACAGTGACTG 0.532000 12 139 0.00136819 0.0015572 1 1 0 CRIPAK 285464 broad.mit.edu 37 4 1389500 1389500 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:1389500C>T ENST00000324803.4 + 1 4161 c.1201C>T c.(1201-1203)Ctg>Ttg p.L401L NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 401 Interaction with PAK1. ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) ACACAAAGCCCTGGCATGGTG 0.562000 29 163 0 0 1 0 0 CRX 1406 broad.mit.edu 37 19 48339506 48339506 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:48339506C>A ENST00000221996.7 + 3 313 c.107C>A c.(106-108)cCc>cAc p.P36H CRX_ENST00000539067.1_Missense_Mutation_p.P36H|TPRX2P_ENST00000535362.1_Intron NM_000554.4 NP_000545.1 O43186 CRX_HUMAN cone-rod homeobox 36 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1) 23 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) CCAGGCGCCCCCAGGAAGCAG 0.637000 14 53 7.07596e-05 8.73743e-05 1 1 0 OR51Q1 390061 broad.mit.edu 37 11 5443730 5443730 + Missense_Mutation SNP T T G rs79683057 byFrequency TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:5443730T>G ENST00000300778.4 + 1 390 c.300T>G c.(298-300)ttT>ttG p.F100L AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGCCTGTTTTGCTCAGTTTT 0.527000 15 94 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92086549 92086549 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:92086549C>A ENST00000298047.6 + 1 1288 c.1271C>A c.(1270-1272)cCt>cAt p.P424H FAT3_ENST00000541502.1_Missense_Mutation_p.P424H|FAT3_ENST00000525166.1_Missense_Mutation_p.P274H|FAT3_ENST00000409404.2_Missense_Mutation_p.P424H Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 424 Cadherin 4. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AAAATTAATCCTCGGTCGGGT 0.413000 TCGA Ovarian(4;0.039) 7 30 0.00198382 0.00224067 1 1 0 NCAM1 4684 broad.mit.edu 37 11 113103956 113103956 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:113103956G>T ENST00000316851.7 + 12 1580 c.1580G>T c.(1579-1581)gGg>gTg p.G527V NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.G536V|NCAM1_ENST00000533760.1_Missense_Mutation_p.G409V NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 537 Fibronectin type-III 1. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) GCCACAGGTGGGGTGCCCATC 0.547000 3 20 0.150653 0.154188 1 1 0 PDZRN3 23024 broad.mit.edu 37 3 73433282 73433282 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:73433282G>T ENST00000263666.4 - 10 2549 c.2435C>A c.(2434-2436)aCg>aAg p.T812K PDZRN3_ENST00000466780.1_Missense_Mutation_p.T469K|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T529K|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T534K|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T469K NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 812 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GGGATCTTCCGTGATGGAGAG 0.647000 9 71 1.08611e-07 1.63191e-07 1 1 0 COL4A6 1288 broad.mit.edu 37 X 107423779 107423779 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:107423779C>A ENST00000334504.7 - 25 2330 c.2097G>T c.(2095-2097)ggG>ggT p.G699G COL4A6_ENST00000394872.2_Silent_p.G700G|COL4A6_ENST00000545689.1_Silent_p.G699G|COL4A6_ENST00000538570.1_Silent_p.G699G|COL4A6_ENST00000372216.4_Silent_p.G700G NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 700 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 ATCCTGGACTCCCTGGCTCTC 0.517000 Alport syndrome with Diffuse Leiomyomatosis 6 32 0.00198382 0.00224067 1 1 0 MICAL1 64780 broad.mit.edu 37 6 109767562 109767562 + Silent SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:109767562T>A ENST00000368952.4 - 19 2705 c.2415A>T c.(2413-2415)acA>acT p.T805T MICAL1_ENST00000358807.3_Silent_p.T786T|MICAL1_ENST00000358577.3_Silent_p.T700T Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 786 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) CCTGCGAGGCTGTGGGAGTTG 0.662000 13 66 0 0 1 0 0 PLEKHS1 79949 broad.mit.edu 37 10 115529575 115529575 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:115529575C>A ENST00000361048.1 + 7 795 c.468C>A c.(466-468)ctC>ctA p.L156L PLEKHS1_ENST00000369310.3_Silent_p.L150L|PLEKHS1_ENST00000369312.4_Silent_p.L68L NM_024889.4 NP_079165.3 pleckstrin homology domain containing, family S member 1 AAAGAACCCTCTTCTACTCCA 0.502000 32 117 3.80469e-20 7.61452e-20 1 1 0 PAK3 5063 broad.mit.edu 37 X 110463671 110463671 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:110463671G>T ENST00000519681.1 + 19 2136 c.1694G>T c.(1693-1695)cGc>cTc p.R565L PAK3_ENST00000360648.4_Missense_Mutation_p.R580L|PAK3_ENST00000372007.4_Missense_Mutation_p.R544L|PAK3_ENST00000425146.1_Missense_Mutation_p.R544L|PAK3_ENST00000262836.4_Missense_Mutation_p.R559L|PAK3_ENST00000417227.1_Missense_Mutation_p.R565L|PAK3_ENST00000518291.1_Missense_Mutation_p.R580L|PAK3_ENST00000446737.1_Missense_Mutation_p.R544L|PAK3_ENST00000372010.1_Missense_Mutation_p.R559L O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 559 multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 AACAGCAGCCGCTAAGACTGC 0.448000 TSP Lung(19;0.15) 7 18 0.00198382 0.00224067 1 1 0 TTN 7273 broad.mit.edu 37 2 179553837 179553837 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:179553837G>T ENST00000589042.1 - 125 32262 c.32038C>A c.(32038-32040)Cca>Aca p.P10680T TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P10363T|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P9436T|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10363 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCTCCTCTGGGACGGGTTTC 0.418000 8 59 3.86212e-05 4.82521e-05 1 1 0 MARK3 4140 broad.mit.edu 37 14 103934452 103934452 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:103934452G>A ENST00000429436.2 + 12 1703 c.1193G>A c.(1192-1194)gGc>gAc p.G398D MARK3_ENST00000303622.9_Missense_Mutation_p.G398D|MARK3_ENST00000335102.5_Missense_Mutation_p.G421D|MARK3_ENST00000216288.7_Missense_Mutation_p.G382D|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000440884.3_Missense_Mutation_p.G319D|MARK3_ENST00000416682.2_Missense_Mutation_p.G421D|MARK3_ENST00000553942.1_Missense_Mutation_p.G398D NM_001128918.1|NM_001128919.1 NP_001122390.1|NP_001122391.1 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 398 ATP binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Melanoma(154;0.155) Epithelial(46;0.241) AACAGTACTGGCCAGTCTCCT 0.448000 17 81 0 0 1 0 0 CDK19 23097 broad.mit.edu 37 6 111067334 111067334 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:111067334T>C ENST00000368911.3 - 2 378 c.199A>G c.(199-201)Att>Gtt p.I67V CDK19_ENST00000323817.3_Missense_Mutation_p.I7V NM_015076.3 NP_055891.1 Q9BWU1 CDK19_HUMAN cyclin-dependent kinase 19 67 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1) 22 CTTACTGCAATCTCTCTACAA 0.269000 23 83 0 0 1 0 0 HTRA1 5654 broad.mit.edu 37 10 124268284 124268284 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:124268284A>T ENST00000368984.3 + 6 1246 c.1118A>T c.(1117-1119)aAa>aTa p.K373I NM_002775.4 NP_002766.1 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 373 PDZ. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) CGACAGGCCAAAGGTAGGCAA 0.537000 13 58 0 0 1 0 0 MGAT3 4248 broad.mit.edu 37 22 39884219 39884219 + Missense_Mutation SNP C C A rs144639692 byFrequency TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr22:39884219C>A ENST00000341184.6 + 2 1082 c.867C>A c.(865-867)gaC>gaA p.D289E NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 289 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) GGATCGCCGACGACTACCTGC 0.652000 23 89 3.5997e-14 6.80045e-14 1 1 0 ADAMTSL1 92949 broad.mit.edu 37 9 18680332 18680332 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:18680332G>T ENST00000380548.4 + 11 1498 c.1159G>T c.(1159-1161)Gcg>Tcg p.A387S ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.A387S|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.A387S|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.A370S NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 387 TSP type-1 2. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) CCCATGGACCGCGTGCTCCTC 0.602000 6 28 3.59834e-05 4.51849e-05 1 1 0 SPTA1 6708 broad.mit.edu 37 1 158627452 158627452 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:158627452C>A ENST00000368148.3 - 19 2800 c.2620G>T c.(2620-2622)Gtc>Ttc p.V874F SPTA1_ENST00000368147.3_Missense_Mutation_p.V874F NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 874 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AAACTCTTGACCCTAGAGGCC 0.453000 49 124 5.73435e-26 1.17459e-25 1 1 0 NID1 4811 broad.mit.edu 37 1 236211988 236211988 + Splice_Site SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:236211988A>T ENST00000264187.6 - 2 608 c.e2+1 NID1_ENST00000366595.3_Splice_Site NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) AGGGGAGCTTACCTTGCCTTT 0.542000 4 40 0 0 1 0 0 MMP9 4318 broad.mit.edu 37 20 44639908 44639908 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:44639908C>A ENST00000372330.3 + 5 795 c.776C>A c.(775-777)aCg>aAg p.T259K NM_004994.2 NP_004985.2 P14780 MMP9_HUMAN matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) 259 Fibronectin type-II 1. collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 46 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) TGCAGTACCACGGCCAACTAC 0.682000 10 114 5.16669e-11 8.97213e-11 1 1 0 ACIN1 22985 broad.mit.edu 37 14 23549553 23549553 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:23549553G>A ENST00000262710.1 - 6 1492 c.1165C>T c.(1165-1167)Cct>Tct p.P389S ACIN1_ENST00000457657.1_Missense_Mutation_p.P349S|ACIN1_ENST00000605057.1_Missense_Mutation_p.P331S|ACIN1_ENST00000555053.1_Missense_Mutation_p.P389S NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 389 Glu-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) AGTCGAGGAGGGGAAGGAGAC 0.473000 12 56 0 0 1 0 0 WIPI2 26100 broad.mit.edu 37 7 5270471 5270471 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:5270471A>G ENST00000288828.4 + 13 1490 c.1258A>G c.(1258-1260)Aca>Gca p.T420A WIPI2_ENST00000404704.3_Missense_Mutation_p.T409A|WIPI2_ENST00000484262.1_Missense_Mutation_p.T350A|WIPI2_ENST00000382384.2_Missense_Mutation_p.T391A|WIPI2_ENST00000401525.3_Missense_Mutation_p.T402A NM_001033518.1|NM_001278299.1|NM_015610.3 NP_001028690.1|NP_001265228.1|NP_056425.1 Q9Y4P8 WIPI2_HUMAN WD repeat domain, phosphoinositide interacting 2 420 autophagic vacuole assembly cytosol|PAS complex|pre-autophagosomal structure membrane phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3) 16 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14) TGCAGCCTACACAGACGACCT 0.607000 5 34 0 0 1 0 0 CASP5 838 broad.mit.edu 37 11 104869746 104869746 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:104869746C>A ENST00000393141.2 - 7 1032 c.1001G>T c.(1000-1002)gGg>gTg p.G334V CASP5_ENST00000444749.2_Missense_Mutation_p.G263V|CASP5_ENST00000531367.1_Missense_Mutation_p.G179V|CASP5_ENST00000418434.1_Missense_Mutation_p.G179V|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000526056.1_Missense_Mutation_p.G334V|CASP5_ENST00000260315.3_Missense_Mutation_p.G321V NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 321 L -> V (in dbSNP:rs523104). apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) CCAGAGTTCCCCATGTTTTTC 0.418000 13 72 0.00010058 0.000121664 1 1 0 PCDHGA2 56113 broad.mit.edu 37 5 140719419 140719419 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:140719419T>A ENST00000394576.2 + 1 881 c.881T>A c.(880-882)cTt>cAt p.L294H PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTATTTGAGCTTAAGTCAACA 0.438000 25 243 0 0 1 0 0 GJA10 84694 broad.mit.edu 37 6 90605358 90605358 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:90605358G>T ENST00000369352.1 + 1 1171 c.1171G>T c.(1171-1173)Gac>Tac p.D391Y NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 391 synaptic transmission connexon complex|integral to membrane gap junction channel activity p.D391N(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) GCAGTCCCAGGACCCAGAACC 0.522000 18 74 1.02788e-11 1.8147e-11 1 1 0 ASXL3 80816 broad.mit.edu 37 18 31325521 31325521 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:31325521G>T ENST00000269197.5 + 12 5709 c.5709G>T c.(5707-5709)tcG>tcT p.S1903S NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1903 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 TGCTCCCCTCGTGTAGCTTCC 0.498000 20 143 2.4624e-09 3.98661e-09 1 1 0 KLK11 11012 broad.mit.edu 37 19 51527302 51527302 + Splice_Site SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:51527302C>A ENST00000594768.1 - 4 743 c.559_splice c.e4+1 p.Q186_splice KLK11_ENST00000319720.7_Splice_Site_p.Q154_splice|KLK11_ENST00000453757.3_Splice_Site_p.Q154_splice|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000391804.3_Splice_Site_p.Q179_splice NM_144947.1 NP_659196.1 Q9UBX7 KLK11_HUMAN kallikrein-related peptidase 11 186 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878) TGCTCCTACACTGGGGGCTGG 0.637000 4 5 0.00909568 0.00987474 1 1 0 OR5M3 219482 broad.mit.edu 37 11 56237872 56237872 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:56237872G>T ENST00000312240.2 - 1 142 c.102C>A c.(100-102)atC>atA p.I34I NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) CCATGGTGATGATGTAGACCA 0.443000 17 124 6.94344e-10 1.15309e-09 1 1 0 FLG 2312 broad.mit.edu 37 1 152278935 152278935 + Silent SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:152278935A>G ENST00000368799.1 - 3 8462 c.8427T>C c.(8425-8427)tcT>tcC p.S2809S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2809 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGAGTGTCCAGAGCTATCTA 0.582000 Ichthyosis 49 430 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140579690 140579690 + Nonsense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:140579690C>T ENST00000354757.3 + 1 343 c.343C>T c.(343-345)Cag>Tag p.Q115* PCDHB11_ENST00000536699.1_Intron NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 115 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAACCCCACGCAGTTTTTACA 0.463000 28 201 0 0 1 0 0 CSTF1 1477 broad.mit.edu 37 20 54974275 54974275 + Missense_Mutation SNP T T G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:54974275T>G ENST00000217109.4 + 5 1250 c.898T>G c.(898-900)Ttt>Gtt p.F300V CSTF1_ENST00000493039.1_3'UTR NM_001033521.1|NM_001324.2 NP_001028693.1|NP_001315.1 Q05048 CSTF1_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa 300 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 15 Colorectal(105;0.202) CATCACAACTTTTGAGAAAGC 0.378000 28 133 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128470785 128470785 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:128470785G>T ENST00000325888.8 + 1 355 c.94G>T c.(94-96)Gcg>Tcg p.A32S FLNC_ENST00000346177.6_Missense_Mutation_p.A32S NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 32 Actin-binding. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GGCGGAGGACGCGCCGTGGAA 0.637000 7 37 8.12818e-05 9.91291e-05 1 1 0 PCDHGB1 56104 broad.mit.edu 37 5 140732048 140732048 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:140732048G>T ENST00000523390.1 + 1 2221 c.2221G>T c.(2221-2223)Gag>Tag p.E741* PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACCACAGCGAGGGGACTTT 0.562000 21 111 7.45023e-12 1.3232e-11 1 1 0 MDM1 56890 broad.mit.edu 37 12 68708775 68708775 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:68708775C>G ENST00000303145.7 - 9 1538 c.1452G>C c.(1450-1452)gaG>gaC p.E484D MDM1_ENST00000540418.1_Missense_Mutation_p.E204D|MDM1_ENST00000411698.2_Missense_Mutation_p.E449D NM_017440.4 NP_059136.2 Q8TC05 MDM1_HUMAN Mdm1 nuclear protein homolog (mouse) 484 nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7) 33 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) CATCCAACTTCTCTTGCTCTC 0.438000 30 463 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13776555 13776555 + Missense_Mutation SNP T T G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:13776555T>G ENST00000265104.4 - 55 9470 c.9366A>C c.(9364-9366)ttA>ttC p.L3122F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3122 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AACCAGCAACTAAAGCATCTT 0.468000 Kartagener syndrome 19 165 0 0 1 0 0 RPL12P38 645688 broad.mit.edu 37 17 58512726 58512726 + RNA SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:58512726G>T ENST00000588627.1 - 0 631 CAACCTCGCGGATCTTTTCTG 0.522000 8 21 1.06961e-07 1.61367e-07 1 1 0 CROCCP2 84809 broad.mit.edu 37 1 16946336 16946336 + RNA SNP G G A rs11586784 by1000genomes TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:16946336G>A ENST00000412962.1 - 0 1183 CAGGGCTCACGAACCTGCTGC 0.662000 3 9 0 0 1 0 0 RIPK3 11035 broad.mit.edu 37 14 24808683 24808683 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:24808683C>A ENST00000216274.5 - 2 359 c.141G>T c.(139-141)gtG>gtT p.V47V RIPK3_ENST00000554338.1_5'UTR NM_006871.3 NP_006862.2 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 47 Protein kinase. apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) TCTTGACCGCCACATCGTAGC 0.602000 15 147 4.7546e-09 7.61455e-09 1 1 0 ZIC4 84107 broad.mit.edu 37 3 147108782 147108782 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:147108782C>A ENST00000383075.3 - 4 1452 c.940G>T c.(940-942)Ggc>Tgc p.G314C ZIC4_ENST00000425731.3_Missense_Mutation_p.G352C|ZIC4_ENST00000525172.2_Missense_Mutation_p.G364C|ZIC4_ENST00000473123.1_Missense_Mutation_p.G314C|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000484399.1_Missense_Mutation_p.G314C|ZIC4_ENST00000491672.1_Missense_Mutation_p.G108C NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 314 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 GACTTGTGGCCGCAGTCCGAC 0.692000 7 34 0.00307968 0.00344432 1 1 0 KANSL1L 151050 broad.mit.edu 37 2 211018645 211018645 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:211018645T>C ENST00000281772.9 - 2 925 c.662A>G c.(661-663)cAt>cGt p.H221R KANSL1L_ENST00000452086.1_Missense_Mutation_p.H221R|KANSL1L_ENST00000418791.1_Missense_Mutation_p.H221R|KANSL1L_ENST00000457374.1_Missense_Mutation_p.H221R NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 221 TAAACGAGCATGTACTTCCTC 0.388000 44 101 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55981172 55981172 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:55981172C>A ENST00000263923.4 - 5 822 c.527G>T c.(526-528)aGa>aTa p.R176I NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 176 Ig-like C2-type 2. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CCAGGAAATTCTGTTACCATC 0.373000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 3 35 1 1 1 1 0 ZSCAN10 84891 broad.mit.edu 37 16 3140367 3140367 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:3140367G>T ENST00000252463.2 - 5 990 c.903C>A c.(901-903)ttC>ttA p.F301L ZSCAN10_ENST00000538082.2_Missense_Mutation_p.F219L|ZSCAN10_ENST00000575108.1_5'UTR NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 301 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 ACAGCTGCGGGAAGCTCACCC 0.642000 10 89 1.58986e-06 2.19736e-06 1 1 0 LAMA2 3908 broad.mit.edu 37 6 129498910 129498910 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:129498910T>A ENST00000421865.2 + 10 1415 c.1366T>A c.(1366-1368)Tgt>Agt p.C456S NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 456 Laminin EGF-like 3. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CTGTGATCGGTGTGCCAGGGG 0.483000 7 54 0 0 1 0 0 SV2C 22987 broad.mit.edu 37 5 75490924 75490924 + Splice_Site SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:75490924G>T ENST00000502798.2 + 3 1203 c.761_splice c.e3+1 p.G254_splice SV2C_ENST00000322285.7_Splice_Site_p.G254_splice NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 254 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) TCTGGATTCGGGTAAGGTTTT 0.378000 27 196 1.1804e-14 2.24715e-14 1 1 0 SLC22A2 6582 broad.mit.edu 37 6 160679600 160679600 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr6:160679600C>A ENST00000366952.1 - 3 1608 c.127G>T c.(127-129)Ggc>Tgc p.G43C SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Missense_Mutation_p.G64C O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 64 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) GGACTCCAGCCGCAGCGCAGA 0.667000 13 64 1.61879e-10 2.76256e-10 1 1 0 MAGEB18 286514 broad.mit.edu 37 X 26157899 26157899 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:26157899G>C ENST00000325250.1 + 2 984 c.797G>C c.(796-798)cGc>cCc p.R266P NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 266 MAGE. protein binding p.R266P(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 GATCCTCCACGCTATGAATTC 0.498000 14 47 0 0 1 0 0 OR2G6 391211 broad.mit.edu 37 1 248685604 248685604 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:248685604C>T ENST00000343414.4 + 1 689 c.657C>T c.(655-657)ggC>ggT p.G219G NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCTCCTATGGCTTTATCACTC 0.473000 35 107 0 0 1 0 0 SRSF7 6432 broad.mit.edu 37 2 38977301 38977301 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:38977301C>A ENST00000313117.6 - 2 301 c.64G>T c.(64-66)Gct>Tct p.A22S SRSF7_ENST00000446327.2_Missense_Mutation_p.A22S|SRSF7_ENST00000409276.1_Missense_Mutation_p.A22S NM_001031684.2|NM_001195446.1 NP_001026854.1|NP_001182375.1 Q16629 SRSF7_HUMAN serine/arginine-rich splicing factor 7 22 RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 CCTTTGCCAGCGCCAGTTCCC 0.413000 24 140 4.26978e-12 7.61067e-12 1 1 0 ST8SIA6 338596 broad.mit.edu 37 10 17365095 17365095 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:17365095C>A ENST00000377602.4 - 7 771 c.697G>T c.(697-699)Gtg>Ttg p.V233L NM_001004470.1 NP_001004470.1 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 233 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1) 37 TTTATAGTCACAAGATTTGTT 0.338000 10 120 2.27111e-07 3.32483e-07 1 1 0 SEMA5B 54437 broad.mit.edu 37 3 122632184 122632184 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:122632184C>A ENST00000195173.4 - 17 2668 c.2365G>T c.(2365-2367)Ggc>Tgc p.G789C SEMA5B_ENST00000451055.2_Missense_Mutation_p.G844C|SEMA5B_ENST00000357599.3_Missense_Mutation_p.G790C Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 790 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) CGTGCCCCGCCCTGCGTCACG 0.716000 3 9 0.004672 0.00515519 1 1 0 MAGEB18 286514 broad.mit.edu 37 X 26157349 26157349 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:26157349G>A ENST00000325250.1 + 2 434 c.247G>A c.(247-249)Gaa>Aaa p.E83K NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 83 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 CAGTTCAAATGAAGGTGCCAG 0.502000 9 37 0 0 1 0 0 HAS2 3037 broad.mit.edu 37 8 122626873 122626873 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:122626873C>A ENST00000303924.4 - 4 1672 c.1135G>T c.(1135-1137)Gaa>Taa p.E379* NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 379 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) ATAATCGCTTCGTAGGTCATC 0.443000 26 164 1.17739e-12 2.15565e-12 1 1 0 SIPA1L2 57568 broad.mit.edu 37 1 232577089 232577089 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:232577089C>T ENST00000366630.1 - 13 3948 c.3590G>A c.(3589-3591)aGa>aAa p.R1197K SIPA1L2_ENST00000308942.4_Missense_Mutation_p.R271K|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R1197K Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1197 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CTGCAGAGCTCTTTCTTTATA 0.438000 59 518 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7034488 7034488 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:7034488C>A ENST00000389658.3 - 14 2134 c.2041G>T c.(2041-2043)Gct>Tct p.A681S NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 681 Laminin IV type A 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGTAAAGAGCCATTTTTGCA 0.358000 7 37 2.0095e-06 2.75169e-06 1 1 0 SLC3A1 6519 broad.mit.edu 37 2 44508563 44508563 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:44508563G>T ENST00000260649.6 + 3 724 c.648G>T c.(646-648)acG>acT p.T216T SLC3A1_ENST00000409229.3_Silent_p.T216T|SLC3A1_ENST00000410056.3_Silent_p.T216T|SLC3A1_ENST00000409387.1_Silent_p.T216T|SLC3A1_ENST00000409741.1_Silent_p.T216T NM_000341.3 NP_000332.2 Q07837 SLC31_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 1 216 T -> M (in CSNU1). carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3) 26 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) CAAACCACACGAGTGATAAAC 0.338000 6 62 0.00116845 0.00133498 1 1 0 BTBD1 53339 broad.mit.edu 37 15 83735784 83735784 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:83735784C>A ENST00000261721.4 - 1 322 c.120G>T c.(118-120)ctG>ctT p.L40L RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000379403.2_Silent_p.L40L|RP11-382A20.5_ENST00000566841.1_RNA NM_001011885.1|NM_025238.3 NP_001011885.1|NP_079514.1 Q9H0C5 BTBD1_HUMAN BTB (POZ) domain containing 1 40 cytoplasmic mRNA processing body|protein complex protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 10 all cancers(203;0.000186) GTTCCCGCTGCAGGGGGAGCA 0.726000 6 18 8.12818e-05 9.91291e-05 1 1 0 SLC5A8 160728 broad.mit.edu 37 12 101551147 101551147 + Silent SNP T T G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:101551147T>G ENST00000536262.2 - 15 2301 c.1743A>C c.(1741-1743)ccA>ccC p.P581P NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 581 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CATCTTCCACTGGATGTGATT 0.388000 9 22 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41967632 41967632 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:41967632G>T ENST00000298919.7 + 10 2659 c.2271G>T c.(2269-2271)ggG>ggT p.G757G PDZRN4_ENST00000539469.2_Silent_p.G759G|PDZRN4_ENST00000402685.2_Silent_p.G1017G Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 1017 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TGACCCATGGGGCCAAGTCTC 0.423000 6 57 2.0095e-06 2.75169e-06 1 1 0 ATRNL1 26033 broad.mit.edu 37 10 117061366 117061366 + Splice_Site SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:117061366T>A ENST00000355044.3 + 17 2757 c.2629_splice c.e17-1 p.V877_splice ATRNL1_ENST00000423111.2_5'UTR NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 877 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TTATTCCAGTTAGTCCAAATC 0.378000 9 32 0 0 1 0 0 OR2T8 343172 broad.mit.edu 37 1 248084444 248084444 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:248084444T>A ENST00000319968.4 + 1 125 c.125T>A c.(124-126)cTc>cAc p.L42H NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 42 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGCAATTCCCTCATGATTCTC 0.502000 9 75 0 0 1 0 0 TRBV10-1 28585 broad.mit.edu 37 7 142231995 142231995 + RNA SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:142231995C>A ENST00000390364.3 - 0 95 AGACAAAGGGCCACATAGAAG 0.582000 9 64 1.12685e-05 1.46718e-05 1 1 0 OR14C36 127066 broad.mit.edu 37 1 248512413 248512413 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:248512413C>A ENST00000317861.1 + 1 337 c.337C>A c.(337-339)Ctc>Atc p.L113I NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 GCTTCTGTTTCTCACCATTAT 0.493000 15 69 1.49906e-05 1.92643e-05 1 1 0 KIF5C 3800 broad.mit.edu 37 2 149837907 149837907 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:149837907G>C ENST00000435030.1 + 14 1769 c.1401G>C c.(1399-1401)caG>caC p.Q467H KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.Q372H|KIF5C_ENST00000397413.1_Missense_Mutation_p.Q235H O60282 KIF5C_HUMAN kinesin family member 5C 467 microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) AGAAGATACAGGAGGAGCTGA 0.448000 4 15 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41536235 41536235 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr22:41536235G>A ENST00000263253.7 + 9 3071 c.1852G>A c.(1852-1854)Gac>Aac p.D618N NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 618 KIX. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 AGTTGAAGGGGACATGTATGA 0.408000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 24 127 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85411584 85411584 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:85411584C>T ENST00000258888.5 + 14 5788 c.5621C>T c.(5620-5622)cCa>cTa p.P1874L NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1874 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) AAGAGTGCTCCAAGTTCCAAG 0.627000 8 46 0 0 1 0 0 DACT3 147906 broad.mit.edu 37 19 47151760 47151760 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:47151760G>A ENST00000391916.2 - 4 1942 c.1869C>T c.(1867-1869)ctC>ctT p.L623L DACT3_ENST00000300875.4_Silent_p.L398L NM_145056.2 NP_659493.2 Q96B18 DACT3_HUMAN dishevelled-binding antagonist of beta-catenin 3 623 lung(1) 1 Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325) TCATGACCTTGAGAGAACCCG 0.562000 62 277 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118950260 118950260 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:118950260G>T ENST00000328252.3 + 2 1612 c.1243G>T c.(1243-1245)Gac>Tac p.D415Y NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 415 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GGCCAACTGTGACATCAGCAA 0.627000 5 53 0.014758 0.0158251 1 1 0 WDR16 146845 broad.mit.edu 37 17 9532018 9532018 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:9532018C>A ENST00000352665.5 + 9 1124 c.1055C>A c.(1054-1056)gCc>gAc p.A352D WDR16_ENST00000396219.3_Missense_Mutation_p.A284D|WDR16_ENST00000299764.5_Missense_Mutation_p.A362D NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 352 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 GCAACCTGTGCCAAGAAGGAT 0.507000 7 37 5.18039e-06 6.86552e-06 1 1 0 RP1 6101 broad.mit.edu 37 8 55541396 55541396 + Missense_Mutation SNP C C A rs151328121 byFrequency TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:55541396C>A ENST00000220676.1 + 4 5102 c.4954C>A c.(4954-4956)Cgc>Agc p.R1652S NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1652 R -> L (in RP1; uncertain pathogenicity). axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TGGGTCTACCCGCAAATCTCA 0.373000 27 168 2.79863e-10 4.7217e-10 1 1 0 PEG3 5178 broad.mit.edu 37 19 57325727 57325727 + Missense_Mutation SNP A A T rs145005818 byFrequency TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:57325727A>T ENST00000326441.9 - 10 4446 c.4083T>A c.(4081-4083)gaT>gaA p.D1361E ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D1361E|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.D1235E|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.D1237E NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1361 Glu-rich. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) ctgctgctTCATCTTCTTCTT 0.453000 12 67 0 0 1 0 0 TOMM20 9804 broad.mit.edu 37 1 235277177 235277177 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:235277177C>A ENST00000366607.4 - 4 519 c.299G>T c.(298-300)tGt>tTt p.C100F TOMM20_ENST00000467767.1_5'UTR NM_014765.2 NP_055580.1 Q15388 TOM20_HUMAN translocase of outer mitochondrial membrane 20 homolog (yeast) 100 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding lung(2)|prostate(1) 3 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05) TGGCTGTCCACACACAGCAAT 0.443000 25 107 7.07758e-08 1.07873e-07 1 1 0 SIGLEC8 27181 broad.mit.edu 37 19 51958789 51958789 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:51958789G>T ENST00000321424.3 - 4 1000 c.934C>A c.(934-936)Ctg>Atg p.L312M SIGLEC8_ENST00000430817.1_Missense_Mutation_p.L203M|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.L219M NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 312 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) AGCTCCAGCAGCCCAGGGTTT 0.642000 5 37 0.0293803 0.0309453 1 1 0 NPR2 4882 broad.mit.edu 37 9 35792898 35792898 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:35792898C>T ENST00000342694.2 + 1 748 c.493C>T c.(493-495)Cgt>Tgt p.R165C NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 165 intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) TTGGACTGCCCGTGCTGCCTT 0.572000 22 85 0 0 1 0 0 KYNU 8942 broad.mit.edu 37 2 143713799 143713799 + Nonsense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:143713799C>T ENST00000264170.4 + 6 721 c.463C>T c.(463-465)Cga>Tga p.R155* KYNU_ENST00000409512.1_Nonsense_Mutation_p.R155*|KYNU_ENST00000375773.2_Nonsense_Mutation_p.R155* NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase 155 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) TACGCCAAAACGATATAAAAT 0.308000 4 45 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21860930 21860930 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:21860930C>A ENST00000399982.2 - 33 6571 c.6507G>T c.(6505-6507)caG>caT p.Q2169H CHD8_ENST00000557364.1_Missense_Mutation_p.Q2169H|CHD8_ENST00000430710.3_Missense_Mutation_p.Q1890H NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 2169 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) AGAGTACAGCCTGGCAGACGA 0.493000 11 129 9.05144e-12 1.60374e-11 1 1 0 MC3R 4159 broad.mit.edu 37 20 54824139 54824139 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:54824139G>A ENST00000243911.2 + 1 352 c.240G>A c.(238-240)ctG>ctA p.L80L NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 117 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) TCTGCAGCCTGGCGGTGGCCG 0.567000 4 63 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11144114 11144114 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:11144114G>T ENST00000358026.2 + 26 3979 c.3695G>T c.(3694-3696)gGc>gTc p.G1232V SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1232V|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1232V|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1232V|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1232V|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1232V|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1232V|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1232V|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1232V NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1232 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.G1232D(1)|p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) ATCCAGGCCGGCATGTTCGAC 0.637000 """F, N, Mis""" NSCLC 16 91 6.94344e-10 1.15309e-09 1 1 0 ATF7IP 55729 broad.mit.edu 37 12 14599921 14599921 + Splice_Site SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:14599921G>T ENST00000544627.1 + 6 2273 c.e6-1 ATF7IP_ENST00000543189.1_Splice_Site|ATF7IP_ENST00000540793.1_Splice_Site|ATF7IP_ENST00000261168.4_Splice_Site|ATF7IP_ENST00000541654.1_Splice_Site|ATF7IP_ENST00000536444.1_Splice_Site Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 TTTTTTTTCAGGCCAAGATAG 0.264000 5 51 8.12818e-05 9.91291e-05 1 1 0 MOGAT1 116255 broad.mit.edu 37 2 223559247 223559247 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:223559247G>T ENST00000446656.3 + 4 645 c.645G>T c.(643-645)ttG>ttT p.L215F NM_058165.2 NP_477513.2 Q96PD6 MOGT1_HUMAN monoacylglycerol O-acyltransferase 1 215 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1) 9 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105) AAATTGCTTTGACCCATGGGT 0.413000 4 26 0.014758 0.0158251 1 1 0 ITIH1 3697 broad.mit.edu 37 3 52821100 52821100 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:52821100G>A ENST00000273283.2 + 14 1897 c.1873G>A c.(1873-1875)Gac>Aac p.D625N ITIH1_ENST00000540715.1_Missense_Mutation_p.D483N|ITIH1_ENST00000537050.1_Missense_Mutation_p.D337N|ITIH1_ENST00000542827.1_Missense_Mutation_p.D625N NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 625 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) GCCCACCATCGACAAGCCCTC 0.577000 5 85 0 0 1 0 0 PRSS36 146547 broad.mit.edu 37 16 31160810 31160810 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:31160810G>T ENST00000268281.4 - 3 141 c.83C>A c.(82-84)cCt>cAt p.P28H PRSS36_ENST00000418068.2_Missense_Mutation_p.P28H|PRSS36_ENST00000569305.1_Missense_Mutation_p.P28H NM_001258290.1|NM_173502.4 NP_001245219.1|NP_775773.2 Q5K4E3 POLS2_HUMAN protease, serine, 36 28 proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 TTCCTGGGTAGGACTGAGAGC 0.592000 8 54 0.00448238 0.00498677 1 1 0 PALD1 27143 broad.mit.edu 37 10 72307173 72307173 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:72307173C>A ENST00000263563.6 + 18 2501 c.2233C>A c.(2233-2235)Cgg>Agg p.R745R NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 p.R745W(1) CTACCACCTGCGGGAGATCAT 0.662000 15 51 0.0285812 0.0302541 1 1 0 HTRA1 5654 broad.mit.edu 37 10 124268283 124268283 + Nonsense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:124268283A>T ENST00000368984.3 + 6 1245 c.1117A>T c.(1117-1119)Aaa>Taa p.K373* NM_002775.4 NP_002766.1 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 373 PDZ. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) CCGACAGGCCAAAGGTAGGCA 0.537000 11 58 0 0 1 0 0 POF1B 79983 broad.mit.edu 37 X 84601001 84601001 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:84601001G>T ENST00000262753.4 - 6 733 c.588C>A c.(586-588)ccC>ccA p.P196P POF1B_ENST00000373145.3_Silent_p.P196P NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 196 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 GGATGACCTGGGGCTGTTGGA 0.438000 13 55 0.0167234 0.0179067 1 1 0 FCRL5 83416 broad.mit.edu 37 1 157517179 157517179 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:157517179G>A ENST00000356953.4 - 2 65 c.38C>T c.(37-39)tCc>tTc p.S13F FCRL5_ENST00000368189.3_Intron|FCRL5_ENST00000368188.2_Intron|FCRL5_ENST00000368190.3_Intron|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000361835.3_Intron Q96RD9 FCRL5_HUMAN Fc receptor-like 5 13 integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) TTGCCCAGGGGATGGCAATGA 0.522000 3 14 0 0 1 0 0 MAPK9 5601 broad.mit.edu 37 5 179674444 179674444 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:179674444G>A ENST00000452135.2 - 7 981 c.683C>T c.(682-684)aCt>aTt p.T228I MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000425491.2_Missense_Mutation_p.T228I|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000455781.1_Intron|MAPK9_ENST00000393360.3_Missense_Mutation_p.T228I|MAPK9_ENST00000539014.1_3'UTR|MAPK9_ENST00000347470.4_Intron|MAPK9_ENST00000343111.6_Intron P45984 MK09_HUMAN mitogen-activated protein kinase 9 228 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GATACGGTCAGTGCCTTGGAA 0.483000 7 41 0 0 1 0 0 IMPG2 50939 broad.mit.edu 37 3 100961620 100961620 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:100961620C>A ENST00000193391.7 - 14 3121 c.2934G>T c.(2932-2934)gcG>gcT p.A978A NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 978 SEA 2. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TCATGTACACCGCATTGTTGA 0.413000 25 137 4.47668e-21 9.00803e-21 1 1 0 SLC8A3 6547 broad.mit.edu 37 14 70634049 70634049 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr14:70634049C>A ENST00000381269.2 - 2 1844 c.1091G>T c.(1090-1092)gGt>gTt p.G364V SLC8A3_ENST00000356921.2_Missense_Mutation_p.G364V|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G364V|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G364V|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G364V NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 364 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) ATTGCCTGCACCAGTCATCAT 0.507000 14 78 1.5842e-08 2.49402e-08 1 1 0 USP29 57663 broad.mit.edu 37 19 57642596 57642596 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:57642596G>T ENST00000254181.4 + 4 3007 c.2553G>T c.(2551-2553)caG>caT p.Q851H USP29_ENST00000598197.1_Missense_Mutation_p.Q851H NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 851 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTCAGAAGCAGGCCTGGTTCA 0.468000 11 50 0.00010058 0.000121664 1 1 0 FAM53C 51307 broad.mit.edu 37 5 137680774 137680774 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:137680774G>T ENST00000239906.5 + 4 825 c.397G>T c.(397-399)Gtg>Ttg p.V133L FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000434981.2_Missense_Mutation_p.V133L NM_016605.2 NP_057689.1 Q9NYF3 FA53C_HUMAN family with sequence similarity 53, member C 133 breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CTGGCAGCCGGTGTGGCGGCC 0.692000 13 90 4.36969e-10 7.30581e-10 1 1 0 GP5 2814 broad.mit.edu 37 3 194118786 194118786 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:194118786G>T ENST00000401815.1 - 1 297 c.226C>A c.(226-228)Ctg>Atg p.L76M GP5_ENST00000323007.3_Missense_Mutation_p.L76M P40197 GPV_HUMAN glycoprotein V (platelet) 76 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) AGGCGCTGCAGGACGGTCATG 0.617000 6 78 0.0215528 0.0228632 1 1 0 NEB 4703 broad.mit.edu 37 2 152404840 152404840 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:152404840G>T ENST00000397345.3 - 131 20341 c.20139C>A c.(20137-20139)gtC>gtA p.V6713V NEB_ENST00000603639.1_Silent_p.V6713V|NEB_ENST00000604864.1_Silent_p.V6713V|NEB_ENST00000172853.10_Silent_p.V5012V|NEB_ENST00000427231.2_Silent_p.V6713V|NEB_ENST00000409198.1_Silent_p.V5012V NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 5012 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) TAACATTGTTGACTCTCCGGA 0.413000 10 87 2.17888e-05 2.77601e-05 1 1 0 OMD 4958 broad.mit.edu 37 9 95179521 95179521 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:95179521G>A ENST00000375550.4 - 2 595 c.320C>T c.(319-321)aCt>aTt p.T107I CENPP_ENST00000375587.3_Intron NM_005014.2 NP_005005.1 Q99983 OMD_HUMAN osteomodulin 107 cell adhesion proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2) 16 TGAATTTGCAGTCACAGCCTC 0.353000 T USP6 aneurysmal bone cysts 27 194 0 0 1 0 0 CCP110 9738 broad.mit.edu 37 16 19547731 19547731 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:19547731G>T ENST00000396212.2 + 5 1176 c.740G>T c.(739-741)aGt>aTt p.S247I CCP110_ENST00000396208.2_Missense_Mutation_p.S247I|CCP110_ENST00000381396.5_Missense_Mutation_p.S247I NM_014711.4 NP_055526.3 O43303 CP110_HUMAN centriolar coiled coil protein 110kDa 247 centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 TCTAGACGCAGTCTGAGAGGT 0.388000 18 86 9.16793e-09 1.45257e-08 1 1 0 R3HDM1 23518 broad.mit.edu 37 2 136396678 136396678 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:136396678G>T ENST00000264160.4 + 14 1575 c.1205G>T c.(1204-1206)aGg>aTg p.R402M R3HDM1_ENST00000409478.1_Missense_Mutation_p.R358M|R3HDM1_ENST00000329971.3_Missense_Mutation_p.R358M|R3HDM1_ENST00000443537.2_3'UTR|R3HDM1_ENST00000409606.1_Missense_Mutation_p.R402M|R3HDM1_ENST00000410054.1_Missense_Mutation_p.R346M NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 402 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) AGCATAGGCAGGCTTTCAAAA 0.413000 18 93 8.28177e-16 1.5992e-15 1 1 0 ACACA 31 broad.mit.edu 37 17 35487103 35487103 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:35487103C>A ENST00000353139.5 - 46 6202 c.5721G>T c.(5719-5721)ggG>ggT p.G1907G ACACA_ENST00000335166.5_Silent_p.G1792G|ACACA_ENST00000394406.2_Silent_p.G1870G|ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000360679.3_Silent_p.G1812G NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1870 Carboxyltransferase. 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) TCTGGATGCCCCCCAGCTGGT 0.488000 10 149 0.411799 0.414594 1 1 0 OR10X1 128367 broad.mit.edu 37 1 158549021 158549021 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:158549021C>A ENST00000368150.1 - 1 668 c.669G>T c.(667-669)ttG>ttT p.L223F NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) GGGTACCCAGCAAACCAGACA 0.453000 16 117 4.7546e-09 7.61455e-09 1 1 0 BPIFB1 92747 broad.mit.edu 37 20 31873890 31873890 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:31873890C>G ENST00000253354.1 + 2 172 c.11C>G c.(10-12)cCg>cGg p.P4R NM_033197.2 NP_149974.2 Q8TDL5 LPLC1_HUMAN BPI fold containing family B, member 1 4 extracellular space lipid binding ATGGCCGGCCCGTGGACCTTC 0.617000 7 79 0 0 1 0 0 DDX5 1655 broad.mit.edu 37 17 62499186 62499186 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:62499186T>A ENST00000225792.5 - 8 1242 c.841A>T c.(841-843)Act>Tct p.T281S DDX5_ENST00000450599.2_Missense_Mutation_p.T202S|DDX5_ENST00000578804.1_Missense_Mutation_p.T281S NM_004396.3 NP_004387.1 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 5 281 Helicase ATP-binding. cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 19 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) TTTGGCCAAGTCGCACTCCAC 0.383000 T ETV4 prostate 35 228 0 0 1 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140774264 140774264 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:140774264G>T ENST00000398604.2 + 1 1884 c.1884G>T c.(1882-1884)acG>acT p.T628T PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTGCGCACGGCGCGAGCCC 0.687000 13 71 2.61681e-11 4.57095e-11 1 1 0 USP46 64854 broad.mit.edu 37 4 53492221 53492221 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:53492221C>A ENST00000441222.2 - 4 709 c.525G>T c.(523-525)acG>acT p.T175T USP46_ENST00000451218.2_Silent_p.T148T|USP46_ENST00000508499.1_Silent_p.T168T NM_022832.3 NP_073743.2 P62068 UBP46_HUMAN ubiquitin specific peptidase 46 175 behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2) 12 LUSC - Lung squamous cell carcinoma(32;0.0295) CATTGGTAAGCGTTCCCTGAA 0.388000 6 40 0.000274275 0.00032488 1 1 0 ZIC4 84107 broad.mit.edu 37 3 147113896 147113896 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:147113896C>A ENST00000383075.3 - 3 943 c.431G>T c.(430-432)tGc>tTc p.C144F ZIC4_ENST00000425731.3_Missense_Mutation_p.C182F|ZIC4_ENST00000525172.2_Missense_Mutation_p.C194F|ZIC4_ENST00000473123.1_Missense_Mutation_p.C144F|ZIC4_ENST00000484399.1_Missense_Mutation_p.C144F|ZIC4_ENST00000491672.1_Intron NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 144 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 AGTTTTGGAGCAGAGGCTCGG 0.637000 19 104 5.03518e-11 8.76429e-11 1 1 0 JAKMIP1 152789 broad.mit.edu 37 4 6107499 6107499 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:6107499C>G ENST00000409021.3 - 3 774 c.325G>C c.(325-327)Gag>Cag p.E109Q JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E109Q|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.E109Q|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000410077.2_Intron NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 109 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CGCTGCAGCTCGCCCTCCTTG 0.716000 3 14 0 0 1 0 0 STRC 161497 broad.mit.edu 37 15 43903143 43903143 + Missense_Mutation SNP C C G rs147470294 TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:43903143C>G ENST00000450892.2 - 14 3423 c.3346G>C c.(3346-3348)Ggt>Cgt p.G1116R STRC_ENST00000541030.1_Intron NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1116 sensory perception of sound cell surface skin(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) ACAGCTGGACCAGCACCTGTT 0.493000 8 78 0 0 1 0 0 PARS2 25973 broad.mit.edu 37 1 55223833 55223833 + Silent SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:55223833C>A ENST00000371279.3 - 2 1084 c.1002G>T c.(1000-1002)ctG>ctT p.L334L NM_152268.3 NP_689481.2 Q7L3T8 SYPM_HUMAN prolyl-tRNA synthetase 2, mitochondrial (putative) 334 prolyl-tRNA aminoacylation mitochondrial matrix ATP binding|proline-tRNA ligase activity breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1) 15 L-Proline(DB00172) CCATTTCAGCCAGGGTTGGTT 0.517000 8 94 0.00307968 0.00344432 1 1 0 VCAN 1462 broad.mit.edu 37 5 82817222 82817222 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:82817222G>T ENST00000265077.3 + 7 3662 c.3097G>T c.(3097-3099)Gaa>Taa p.E1033* VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Nonsense_Mutation_p.E985*|VCAN_ENST00000342785.4_Nonsense_Mutation_p.E1033* NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1033 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AACAACTCAGGAAGAATTCCC 0.453000 10 45 1.58986e-06 2.19736e-06 1 1 0 FYB 2533 broad.mit.edu 37 5 39202745 39202745 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:39202745T>A ENST00000351578.6 - 2 508 c.318A>T c.(316-318)aaA>aaT p.K106N FYB_ENST00000540520.1_Missense_Mutation_p.K116N|FYB_ENST00000505428.1_Missense_Mutation_p.K106N|FYB_ENST00000515010.1_Missense_Mutation_p.K106N|FYB_ENST00000512982.1_Missense_Mutation_p.K106N NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 106 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) GAAATCCCACTTTCGCCTCGG 0.542000 11 43 0 0 1 0 0 MUM1L1 139221 broad.mit.edu 37 X 105451271 105451271 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:105451271G>A ENST00000337685.2 + 5 2631 c.1846G>A c.(1846-1848)Gtc>Atc p.V616I MUM1L1_ENST00000372552.1_Missense_Mutation_p.V616I|MUM1L1_ENST00000357175.2_Missense_Mutation_p.V616I NM_152423.4 NP_689636.3 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 616 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 TTTACAAGAAGTCTGCAATCA 0.313000 7 29 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36342388 36342388 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:36342388C>A ENST00000378910.5 - 2 244 c.245G>T c.(244-246)aGg>aTg p.R82M NPHS1_ENST00000353632.6_Missense_Mutation_p.R82M NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 82 Ig-like C2-type 1. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CAGGCGGTACCTCGGGAAGCC 0.672000 6 24 5.18039e-06 6.86552e-06 1 1 0 RIT2 6014 broad.mit.edu 37 18 40695437 40695437 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr18:40695437G>T ENST00000589109.1 - 1 219 c.48C>A c.(46-48)ggC>ggA p.G16G RIT2_ENST00000590910.1_Silent_p.G16G|RIT2_ENST00000282028.4_Silent_p.G16G|RIT2_ENST00000326695.5_Silent_p.G16G NM_001272077.1 NP_001259006.1 Q99578 RIT2_HUMAN Ras-like without CAAX 2 16 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CTCTGGACCCGCCTGATGCGC 0.542000 13 119 2.68362e-12 4.85342e-12 1 1 0 PPARGC1A 10891 broad.mit.edu 37 4 23803944 23803944 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:23803944C>T ENST00000264867.2 - 11 2163 c.2044G>A c.(2044-2046)Ggt>Agt p.G682S PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 682 RRM. androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) CTGATTTTACCGACATAAATC 0.517000 15 89 0 0 1 0 0 KLHL5 51088 broad.mit.edu 37 4 39105132 39105132 + Splice_Site SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:39105132G>T ENST00000261425.3 + 8 1677 c.e8+1 KLHL5_ENST00000504108.1_Splice_Site|KLHL5_ENST00000508137.2_Splice_Site|KLHL5_ENST00000261426.5_Splice_Site|KLHL5_ENST00000359687.2_Splice_Site|KLHL5_ENST00000381930.3_Splice_Site NM_001007075.2 NP_001007076.1 Q96PQ7 KLHL5_HUMAN kelch-like family member 5 cytoplasm|cytoskeleton actin binding endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 CATGGCCTTGGTAAGTACAAC 0.463000 11 81 3.03607e-14 5.75767e-14 1 1 0 OR8U1 219417 broad.mit.edu 37 11 56143710 56143710 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:56143710G>T ENST00000302270.1 + 1 611 c.611G>T c.(610-612)gGt>gTt p.G204V NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) GCCTGTGCTGGTATCATGTTC 0.458000 25 147 9.57634e-11 1.64753e-10 1 1 0 BAGE2 85319 broad.mit.edu 37 21 11039155 11039155 + RNA SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr21:11039155T>A ENST00000470054.1 - 0 1048 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) TTTCCTCATGTGGGGACACTA 0.398000 12 331 0 0 1 0 0 OR2M7 391196 broad.mit.edu 37 1 248487137 248487137 + Missense_Mutation SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:248487137A>T ENST00000317965.2 - 1 762 c.734T>A c.(733-735)cTc>cAc p.L245H NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CACCACCATGAGGTGAGAGGA 0.463000 47 296 0 0 1 0 0 DHCR24 1718 broad.mit.edu 37 1 55331015 55331015 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:55331015G>A ENST00000371269.3 - 6 1079 c.981C>T c.(979-981)taC>taT p.Y327Y DHCR24_ENST00000537443.1_Intron|DHCR24_ENST00000535035.1_Silent_p.Y286Y NM_014762.3 NP_055577.1 Q15392 DHC24_HUMAN 24-dehydrocholesterol reductase 327 anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 GGCGGTGGTAGTAGTGTCTCA 0.552000 5 46 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166866270 166866270 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:166866270G>C ENST00000423058.2 - 20 3978 c.3961C>G c.(3961-3963)Ctg>Gtg p.L1321V AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.L1321V|SCN1A_ENST00000375405.3_Missense_Mutation_p.L1310V|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.L1293V NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1321 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AGAGGTCTCAGAGCTCTTAGT 0.368000 8 68 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127872103 127872103 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:127872103C>A ENST00000508053.1 - 8 1303 c.329G>T c.(328-330)tGc>tTc p.C110F FBN2_ENST00000508989.1_Missense_Mutation_p.C110F|FBN2_ENST00000262464.4_Missense_Mutation_p.C110F P35556 FBN2_HUMAN fibrillin 2 110 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) ACGGACAATGCACTGGTTTCC 0.607000 4 28 0.014758 0.0158251 1 1 0 PDZD9 255762 broad.mit.edu 37 16 21995933 21995933 + Missense_Mutation SNP A A C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:21995933A>C ENST00000286143.6 - 5 585 c.264T>G c.(262-264)agT>agG p.S88R PDZD9_ENST00000424898.2_Missense_Mutation_p.S150R|PDZD9_ENST00000537222.2_Missense_Mutation_p.S90R Q8IXQ8 PDZD9_HUMAN PDZ domain containing 9 150 PDZ. breast(3)|endometrium(2)|lung(3)|pancreas(1) 9 CATTATCATCACTGCTTGTGA 0.333000 8 54 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166179882 166179882 + Missense_Mutation SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:166179882C>T ENST00000357398.3 + 12 2178 c.1888C>T c.(1888-1890)Cgt>Tgt p.R630C SCN2A_ENST00000375427.2_Missense_Mutation_p.R630C|SCN2A_ENST00000283256.6_Missense_Mutation_p.R630C|SCN2A_ENST00000375437.2_Missense_Mutation_p.R630C Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 630 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) CCAGGCCAGCCGTGCCTCCAG 0.602000 6 48 0 0 1 0 0 ABAT 18 broad.mit.edu 37 16 8870254 8870254 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:8870254G>T ENST00000396600.2 + 14 2114 c.1176G>T c.(1174-1176)ctG>ctT p.L392L ABAT_ENST00000567812.1_Silent_p.L407L|ABAT_ENST00000425191.2_Silent_p.L392L|ABAT_ENST00000268251.8_Silent_p.L392L|ABAT_ENST00000569156.1_Silent_p.L392L NM_000663.4 NP_000654.2 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase 392 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) ACCTGTTGCTGGCTGAGGTCA 0.577000 11 75 0.000978159 0.00112538 1 1 0 WDR3 10885 broad.mit.edu 37 1 118495239 118495239 + Frame_Shift_Del DEL G G - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:118495239delG ENST00000349139.4 + 19 2152 c.2105delG c.(2104-2106)tgfs p.W702fs NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 702 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) CTGAGACTTTGGGAGAGAACA 0.458 26 147 --- --- --- --- NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 7 15 --- --- --- --- KCNH1 3756 broad.mit.edu 37 1 211093240 211093240 + Frame_Shift_Del DEL C C - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr1:211093240delC ENST00000367007.4 - 7 1292 c.1123delG c.(1123-1125)acfs p.D375fs KCNH1_ENST00000271751.4_Frame_Shift_Del_p.D402fs NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 402 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) ATCTCATAGTCCCCAATGCTG 0.527 33 138 --- --- --- --- MYO7B 4648 broad.mit.edu 37 2 128351195 128351195 + Frame_Shift_Del DEL G G - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:128351195delG ENST00000389524.4 + 18 2273 c.2220delG c.(2218-2220)gcfs p.A740fs MYO7B_ENST00000428314.1_Frame_Shift_Del_p.A740fs|MYO7B_ENST00000409816.2_Frame_Shift_Del_p.A740fs Q6PIF6 MYO7B_HUMAN myosin VIIB 740 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) ACTGGAAAGCGGGGAAGACAA 0.607 20 88 --- --- --- --- FSIP2 401024 broad.mit.edu 37 2 186673508 186673508 + Frame_Shift_Del DEL C C - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:186673508delC ENST00000343098.5 + 17 19742 c.19742delC c.(19741-19743)gcfs p.A6581fs FSIP2_ENST00000424728.1_Frame_Shift_Del_p.A6492fs NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 GTTCAAAAGGCCCAAGAACAT 0.323 9 105 --- --- --- --- COL6A3 1293 broad.mit.edu 37 2 238280505 238280505 + Frame_Shift_Del DEL G G - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr2:238280505delG ENST00000295550.4 - 9 4607 c.4155delC c.(4153-4155)ccfs p.P1385fs COL6A3_ENST00000472056.1_Frame_Shift_Del_p.P778fs|COL6A3_ENST00000409809.1_Frame_Shift_Del_p.P1179fs|COL6A3_ENST00000353578.4_Frame_Shift_Del_p.P1179fs|COL6A3_ENST00000392004.3_Frame_Shift_Del_p.P1179fs|COL6A3_ENST00000392003.2_Frame_Shift_Del_p.P978fs|COL6A3_ENST00000347401.3_Frame_Shift_Del_p.P1184fs|COL6A3_ENST00000346358.4_Frame_Shift_Del_p.P1185fs NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1385 Nonhelical region.|VWFA 7. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACACATATTCGGGGCTCAGCG 0.617 12 74 --- --- --- --- PDIA5 10954 broad.mit.edu 37 3 122865078 122865080 + In_Frame_Del DEL AAG AAG - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:122865078_122865080delAAG ENST00000316218.7 + 13 1209_1211 c.1114_1116delAAG c.(1114-1116)del p.K374del PDIA5_ENST00000467157.1_3'UTR NM_006810.3 NP_006801.1 Q14554 PDIA5_HUMAN protein disulfide isomerase family A, member 5 374 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress endoplasmic reticulum lumen electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 21 GBM - Glioblastoma multiforme(114;0.0427) GCTCAGGACAAAGAAGAAGTTTC 0.478 12 159 --- --- --- --- SDHAP1 255812 broad.mit.edu 37 3 195690462 195690463 + RNA INS - - G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr3:195690462_195690463insG ENST00000427841.1 - 0 2203 NR_003264.2 catgcgcaacaggggactgtaa 0.366 3 3 --- --- --- --- MMRN1 22915 broad.mit.edu 37 4 90816308 90816308 + Frame_Shift_Del DEL G G - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr4:90816308delG ENST00000394980.1 + 2 505 c.186delG c.(184-186)tcfs p.S62fs MMRN1_ENST00000394981.1_Frame_Shift_Del_p.S62fs|MMRN1_ENST00000264790.2_Frame_Shift_Del_p.S62fs Q13201 MMRN1_HUMAN multimerin 1 62 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) GGGTCATGTCGGCGGAGATAG 0.468 17 73 --- --- --- --- SPINK5 11005 broad.mit.edu 37 5 147493975 147493976 + Frame_Shift_Del DEL CA CA - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:147493975_147493976delCA ENST00000359874.3 + 21 2011_2012 c.1938_1939delCA c.(1936-1941)tgcafs p.CT646fs SPINK5_ENST00000398454.1_Frame_Shift_Del_p.CT646fs|SPINK5_ENST00000256084.7_Frame_Shift_Del_p.CT646fs NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 646 Kazal-like 10. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity p.C646*(4) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACTTTTCTGCACAAGAGAAAA 0.426 8 73 --- --- --- --- OR2V1 26693 broad.mit.edu 37 5 180552202 180552202 + Frame_Shift_Del DEL C C - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr5:180552202delC ENST00000329365.2 - 1 102 c.103delG c.(103-105)tcfs p.V35fs NM_001258283.1 NP_001245212.1 olfactory receptor, family 2, subfamily V, member 1 lung(4) 4 ACTGTGAAGACCACCATAACT 0.537 13 90 --- --- --- --- PMS2CL 441194 broad.mit.edu 37 7 6759312 6759312 + RNA DEL C C - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:6759312delC ENST00000486256.1 + 0 346 NR_002217.1 TTGTCCCAGGCCAGGAATCTT 0.532 31 222 --- --- --- --- CCDC129 223075 broad.mit.edu 37 7 31682724 31682725 + Frame_Shift_Del DEL TG TG - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:31682724_31682725delTG ENST00000319386.3 + 11 2289_2290 c.1296_1297delTG c.(1294-1299)tttgfs p.FV432fs CCDC129_ENST00000407970.3_Frame_Shift_Del_p.FV580fs|CCDC129_ENST00000451887.2_Frame_Shift_Del_p.FV606fs|CCDC129_ENST00000409210.1_Frame_Shift_Del_p.FV488fs Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 580 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 AGGACAGTTTTGTGAGGCCTGA 0.485 35 216 --- --- --- --- HECW1 23072 broad.mit.edu 37 7 43351506 43351507 + Frame_Shift_Ins INS - - T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:43351506_43351507insT ENST00000395891.1 + 4 777_778 c.172_173insT c.(172-174)cgafs p.R58fs HECW1_ENST00000453890.1_Frame_Shift_Ins_p.R58fs NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 58 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GGGCGGCCCCCACGATGGCGTC 0.629 11 72 --- --- --- --- TFPI2 7980 broad.mit.edu 37 7 93518518 93518518 + Frame_Shift_Del DEL G G - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:93518518delG ENST00000222543.5 - 3 601 c.289delC c.(289-291)ggfs p.R97fs TFPI2_ENST00000545378.1_Intron|GNGT1_ENST00000455502.1_Intron NM_006528.3 NP_006519.1 P48307 TFPI2_HUMAN tissue factor pathway inhibitor 2 97 BPTI/Kunitz inhibitor 2. blood coagulation proteinaceous extracellular matrix extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) ACTTGCAGCCGGCAAACTTTG 0.403 32 91 --- --- --- --- SND1 27044 broad.mit.edu 37 7 127729633 127729633 + Frame_Shift_Del DEL C C - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:127729633delC ENST00000354725.3 + 22 2705 c.2511delC c.(2509-2511)tgfs p.C837fs NM_014390.2 NP_055205.2 Q7KZF4 SND1_HUMAN staphylococcal nuclease and tudor domain containing 1 837 gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 GTGCCGGCTGCCCCCATGTCA 0.602 12 52 --- --- --- --- CNTNAP2 26047 broad.mit.edu 37 7 146997236 146997237 + Frame_Shift_Ins INS - - T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr7:146997236_146997237insT ENST00000361727.3 + 9 1868_1869 c.1352_1353insT c.(1351-1353)tggfs p.W451fs NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 451 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TTACCAGGTTCTGGGTTGAATG 0.371 HNSCC(39;0.1) 15 133 --- --- --- --- PIWIL2 55124 broad.mit.edu 37 8 22212876 22212877 + Frame_Shift_Del DEL TG TG - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:22212876_22212877delTG ENST00000356766.6 + 23 2928_2929 c.2780_2781delTG c.(2779-2781)cfs p.L927fs PIWIL2_ENST00000454009.2_Frame_Shift_Del_p.L927fs|PIWIL2_ENST00000521356.1_Frame_Shift_Del_p.L891fs NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 927 Piwi. DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) ACTTTCAAACTGTGCCACATGT 0.455 10 71 --- --- --- --- NRG1 3084 broad.mit.edu 37 8 32621339 32621339 + Frame_Shift_Del DEL C C - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:32621339delC ENST00000338921.4 + 13 1883 c.1366delC c.(1366-1368)ccfs p.P457fs NRG1_ENST00000287840.5_Frame_Shift_Del_p.P449fs|NRG1_ENST00000287842.3_Frame_Shift_Del_p.P446fs|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000287845.5_Frame_Shift_Del_p.P420fs|NRG1_ENST00000519301.1_Frame_Shift_Del_p.P399fs|NRG1_ENST00000356819.4_Frame_Shift_Del_p.P454fs|NRG1_ENST00000405005.2_Frame_Shift_Del_p.P449fs|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000539990.1_Frame_Shift_Del_p.P292fs Q02297 NRG1_HUMAN neuregulin 1 449 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CCCCAAATCGCCCCCTTCGGA 0.557 16 98 --- --- --- --- STMN2 11075 broad.mit.edu 37 8 80553740 80553740 + Frame_Shift_Del DEL G G - rs73256023 by1000genomes TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:80553740delG ENST00000220876.7 + 3 625 c.243delG c.(241-243)ctfs p.L81fs STMN2_ENST00000518491.1_Frame_Shift_Del_p.L70fs|STMN2_ENST00000518111.1_Frame_Shift_Del_p.L81fs NM_001199214.1|NM_007029.3 NP_001186143.1|NP_008960.2 Q93045 STMN2_HUMAN stathmin-like 2 81 Regulatory/phosphorylation domain (Potential). intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 all_lung(9;8.34e-05) Epithelial(68;0.0229)|all cancers(69;0.0874) ACCTGTCCCTGGAGGAGATCC 0.507 10 66 --- --- --- --- RIMS2 9699 broad.mit.edu 37 8 104831779 104831779 + Frame_Shift_Del DEL C C - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:104831779delC ENST00000507740.1 + 1 280 c.44delC c.(43-45)ttfs p.S15fs RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Frame_Shift_Del_p.S15fs NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1007 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) TCTGTTTTATCTCATTTTCAT 0.358 HNSCC(12;0.0054) 12 80 --- --- --- --- DCSTAMP 81501 broad.mit.edu 37 8 105361774 105361774 + Frame_Shift_Del DEL C C - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:105361774delC ENST00000297581.2 + 2 1043 c.994delC c.(994-996)cafs p.P332fs DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 332 osteoclast differentiation cell surface|integral to membrane|plasma membrane TCAAAGCTTGCCAGGGTTTGA 0.483 27 213 --- --- --- --- OC90 729330 broad.mit.edu 37 8 133041324 133041324 + Frame_Shift_Del DEL G G - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:133041324delG ENST00000262283.5 - 17 1869 c.1770delC c.(1768-1770)ccfs p.P590fs OC90_ENST00000603859.1_Frame_Shift_Del_p.P378fs|OC90_ENST00000254627.3_Frame_Shift_Del_p.P378fs|OC90_ENST00000443356.2_Frame_Shift_Del_p.P394fs Q02509 OC90_HUMAN otoconin 90 394 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) ACTTACACTTGGGCGTATGAT 0.507 17 103 --- --- --- --- GSDMD 79792 broad.mit.edu 37 8 144643223 144643223 + Frame_Shift_Del DEL G G - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr8:144643223delG ENST00000526406.1 + 8 1514 c.631delG c.(631-633)gcfs p.G211fs GSDMD_ENST00000262580.4_Frame_Shift_Del_p.G211fs|GSDMD_ENST00000533063.1_Frame_Shift_Del_p.G259fs NM_001166237.1 NP_001159709.1 P57764 GSDMD_HUMAN gasdermin D 211 breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 12 CATCCCCTCAGGCAGCACCCT 0.662 7 46 --- --- --- --- FRMPD1 22844 broad.mit.edu 37 9 37732318 37732318 + Frame_Shift_Del DEL C C - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:37732318delC ENST00000539465.1 + 10 1469 c.876delC c.(874-876)ctfs p.L292fs RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Frame_Shift_Del_p.L114fs|FRMPD1_ENST00000377765.3_Frame_Shift_Del_p.L292fs|FRMPD1_ENST00000541302.1_Frame_Shift_Del_p.L161fs Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 292 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) GCGATGTGCTCCAGGAGCGCT 0.527 15 55 --- --- --- --- FAM102A 399665 broad.mit.edu 37 9 130716108 130716108 + Frame_Shift_Del DEL A A - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr9:130716108delA ENST00000373095.1 - 2 618 c.243delT c.(241-243)tgfs p.C81fs NM_001035254.2 NP_001030331.1 Q5T9C2 F102A_HUMAN family with sequence similarity 102, member A 81 breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4) 10 CACGGAAGACACAGGGGTCCA 0.632 7 124 --- --- --- --- A1CF 29974 broad.mit.edu 37 10 52575856 52575856 + Frame_Shift_Del DEL G G - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:52575856delG ENST00000395489.2 - 11 1426 c.1030delC c.(1030-1032)agfs p.Q344fs A1CF_ENST00000282641.2_Frame_Shift_Del_p.Q351fs|A1CF_ENST00000374001.1_Frame_Shift_Del_p.Q351fs|ASAH2B_ENST00000483649.1_3'UTR|A1CF_ENST00000373995.3_Frame_Shift_Del_p.Q359fs|A1CF_ENST00000395495.1_Frame_Shift_Del_p.Q296fs|A1CF_ENST00000373993.1_Frame_Shift_Del_p.Q351fs|A1CF_ENST00000373997.3_Frame_Shift_Del_p.Q351fs|A1CF_ENST00000493415.1_5'UTR NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 351 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 GCATAGGTCTGGGGGGCATAG 0.517 13 61 --- --- --- --- CTBP2 1488 broad.mit.edu 37 10 126714996 126714996 + Frame_Shift_Del DEL A A - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr10:126714996delA ENST00000309035.6 - 1 1463 c.1333delT c.(1333-1335)gcfs p.C445fs CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 0 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) GTCAGGGCGCAAGGGGTGGGA 0.677 7 32 --- --- --- --- RTN4RL2 349667 broad.mit.edu 37 11 57243949 57243949 + Frame_Shift_Del DEL C C - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:57243949delC ENST00000335099.3 + 3 1145 c.828delC c.(826-828)ttfs p.F276fs NM_178570.1 NP_848665.1 Q86UN3 R4RL2_HUMAN reticulon 4 receptor-like 2 276 LRRCT. axon regeneration anchored to plasma membrane receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(2) 6 GGGCCTGGTTCCAGCGCGCGC 0.766 2 4 --- --- --- --- MS4A1 931 broad.mit.edu 37 11 60233596 60233596 + Frame_Shift_Del DEL C C - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:60233596delC ENST00000534668.1 + 5 828 c.539delC c.(538-540)acfs p.T180fs MS4A1_ENST00000389939.2_Frame_Shift_Del_p.T180fs|MS4A1_ENST00000345732.4_Frame_Shift_Del_p.T180fs|MS4A1_ENST00000532073.1_Frame_Shift_Del_p.T180fs|MS4A1_ENST00000528313.1_Intron NM_152866.2 NP_690605.1 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 1 180 B cell activation|immune response integral to plasma membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) TCCCCATCTACCCAATACTGT 0.373 19 129 --- --- --- --- GUCY1A2 2977 broad.mit.edu 37 11 106680934 106680934 + Frame_Shift_Del DEL G G - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:106680934delG ENST00000526355.1 - 5 1945 c.1477delC c.(1477-1479)ttfs p.L494fs GUCY1A2_ENST00000347596.2_Frame_Shift_Del_p.L515fs|GUCY1A2_ENST00000282249.2_Frame_Shift_Del_p.L494fs NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 494 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GAATATAGAAGATCCACTGTC 0.423 10 83 --- --- --- --- CEP164 22897 broad.mit.edu 37 11 117232681 117232681 + Frame_Shift_Del DEL C C - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:117232681delC ENST00000278935.3 + 6 671 c.524delC c.(523-525)ttfs p.S175fs NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 175 Interaction with ATRIP. cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) TCAGTGGAGTCTGGACGTCAG 0.562 14 135 --- --- --- --- PKNOX2 63876 broad.mit.edu 37 11 125255455 125255455 + Frame_Shift_Del DEL T T - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr11:125255455delT ENST00000298282.9 + 6 507 c.236delT c.(235-237)ctfs p.L79fs PKNOX2_ENST00000542175.1_Frame_Shift_Del_p.L15fs|PKNOX2_ENST00000530517.1_3'UTR NM_022062.2 NP_071345.2 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 79 nucleus sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) AGGCACCCTCTTTTCCCGCTC 0.577 17 118 --- --- --- --- MARS 4141 broad.mit.edu 37 12 57883715 57883716 + Frame_Shift_Ins INS - - C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr12:57883715_57883716insC ENST00000262027.5 + 5 585_586 c.451_452insC c.(451-453)cctfs p.P151fs MARS_ENST00000447721.2_Intron|MARS_ENST00000315473.5_Intron NM_004990.3 NP_004981.2 P56192 SYMC_HUMAN methionyl-tRNA synthetase 151 GST C-terminal. methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 33 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) TTTGTGGGGAGCCCTATACCCA 0.475 23 188 --- --- --- --- CYFIP1 23191 broad.mit.edu 37 15 22925788 22925788 + Frame_Shift_Del DEL G G - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:22925788delG ENST00000313077.7 + 2 131 c.6delG c.(4-6)gcfs p.A3fs CYFIP1_ENST00000560848.1_Frame_Shift_Del_p.A3fs NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 3 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) CCAGGATGGCGGCCCAGGTGA 0.647 9 35 --- --- --- --- HCN4 10021 broad.mit.edu 37 15 73615880 73615881 + Frame_Shift_Del DEL GT GT - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr15:73615880_73615881delGT ENST00000261917.3 - 8 3546_3547 c.2553_2554delAC c.(2551-2556)accgfs p.TP851fs NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 851 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) GATGAAGACGGTGTGTCCACCT 0.678 16 56 --- --- --- --- CDH8 1006 broad.mit.edu 37 16 61935146 61935147 + Frame_Shift_Ins INS - - A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr16:61935146_61935147insA ENST00000577390.1 - 3 1437_1438 c.483_484insT c.(481-486)aaacaafs p.KQ161fs CDH8_ENST00000577730.1_Frame_Shift_Ins_p.KQ161fs|CDH8_ENST00000299345.6_Frame_Shift_Ins_p.KQ161fs|CDH8_ENST00000584337.1_Frame_Shift_Ins_p.KQ161fs NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 161 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GGTGCATTGTCATTGATGTCTT 0.401 7 111 --- --- --- --- ZNF287 57336 broad.mit.edu 37 17 16455578 16455578 + Frame_Shift_Del DEL C C - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:16455578delC ENST00000395824.1 - 6 2495 c.1878delG c.(1876-1878)ggfs p.G626fs ZNF287_ENST00000395825.3_Frame_Shift_Del_p.G626fs Q9HBT7 ZN287_HUMAN zinc finger protein 287 619 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) TGAATGCTTTCCCACACACAC 0.388 11 46 --- --- --- --- SOCS7 30837 broad.mit.edu 37 17 36508663 36508665 + In_Frame_Del DEL AGC AGC - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:36508663_36508665delAGC ENST00000577233.1 + 1 536_538 c.536_538delAGC c.(535-540)gag>g p.EQ179del SOCS7_ENST00000331159.5_In_Frame_Del_p.EQ179del NM_014598.2 NP_055413.1 O14512 SOCS7_HUMAN suppressor of cytokine signaling 7 179 Mediates interaction with SORBS3. intracellular signal transduction|negative regulation of signal transduction|regulation of growth cytoplasm|nucleus|plasma membrane protein binding|SH3 domain binding p.Q187delQ(1) central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5) 9 Breast(7;3.47e-17) AGTAGAGGGGagcagcagcagca 0.709 2 4 --- --- --- --- TUBG1 7283 broad.mit.edu 37 17 40765028 40765028 + Frame_Shift_Del DEL G G - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:40765028delG ENST00000251413.3 + 6 605 c.543delG c.(541-543)gtfs p.V183fs NM_001070.4 NP_001061.2 P23258 TBG1_HUMAN tubulin, gamma 1 183 G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.129) TGAGCGATGTGGTGGTCCAGC 0.532 15 133 --- --- --- --- ANKRD40 91369 broad.mit.edu 37 17 48777210 48777210 + Frame_Shift_Del DEL G G - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:48777210delG ENST00000285243.6 - 3 597 c.328delC c.(328-330)agfs p.Q110fs NM_052855.3 NP_443087.1 Q6AI12 ANR40_HUMAN ankyrin repeat domain 40 110 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1) 11 BRCA - Breast invasive adenocarcinoma(22;2.03e-09) TTCTTCAGCTGGGGGAGGTTG 0.418 23 48 --- --- --- --- SDK2 54549 broad.mit.edu 37 17 71410815 71410815 + Frame_Shift_Del DEL G G - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr17:71410815delG ENST00000392650.3 - 18 2452 c.2452delC c.(2452-2454)agfs p.Q818fs SDK2_ENST00000388726.3_Frame_Shift_Del_p.Q818fs NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 818 Fibronectin type-III 3. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TTGATGAACTGGGGGCTGGGG 0.602 17 58 --- --- --- --- CD320 51293 broad.mit.edu 37 19 8367478 8367478 + Frame_Shift_Del DEL C C - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr19:8367478delC ENST00000301458.5 - 5 782 c.718delG c.(718-720)cafs p.A240fs CD320_ENST00000537716.2_Frame_Shift_Del_p.A198fs NM_016579.3 NP_057663.1 Q9NPF0 CD320_HUMAN CD320 molecule 240 regulation of cell growth endoplasmic reticulum|integral to membrane growth factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2) 6 ACCAGGCTTGCACTGAGCACC 0.627 11 56 --- --- --- --- TMC2 117532 broad.mit.edu 37 20 2582872 2582872 + Frame_Shift_Del DEL C C - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr20:2582872delC ENST00000358864.1 + 11 1353 c.1338delC c.(1336-1338)tafs p.Y446fs TMC2_ENST00000496948.1_3'UTR NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 446 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 GAAGTGGGTACCTCATTTACT 0.398 12 84 --- --- --- --- RIPPLY3 53820 broad.mit.edu 37 21 38390322 38390322 + Frame_Shift_Del DEL C C - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chr21:38390322delC ENST00000329553.2 + 4 598 c.388delC c.(388-390)ccfs p.P132fs RIPPLY3_ENST00000485272.1_3'UTR NM_018962.2 NP_061835.1 ripply transcriptional repressor 3 AGAGGAAGGACCCCCACCCCT 0.592 7 29 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140995492 140995492 + Frame_Shift_Del DEL G G - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:140995492delG ENST00000285879.4 + 4 2588 c.2302delG c.(2302-2304)agfs p.E768fs MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 768 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GAGTCCTCCTGAGGGGCCTGC 0.537 HNSCC(15;0.026) 46 275 --- --- --- --- AFF2 2334 broad.mit.edu 37 X 148068908 148068908 + Frame_Shift_Del DEL C C - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030AEFDC-9EE8-4740-85ED-8C380265437A 986B23FA-8DDD-45DA-A28B-97C5EA6F69CD g.chrX:148068908delC ENST00000370460.2 + 20 4114 c.3635delC c.(3634-3636)tcfs p.S1212fs AFF2_ENST00000370457.5_Frame_Shift_Del_p.S1177fs|AFF2_ENST00000342251.3_Frame_Shift_Del_p.S1179fs|AFF2_ENST00000286437.5_Frame_Shift_Del_p.S853fs NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 1212 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding p.S1212F(2)|p.S853F(1) breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) AACACTCCATCCCCAGTGTCT 0.547 26 112 --- --- --- ---