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 PYHIN1 149628 broad.mit.edu 37 1 158913599 158913599 + Missense_Mutation SNP C C T TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr1:158913599C>T ENST00000368140.1 + 6 1267 c.1022C>T c.(1021-1023)aCg>aTg p.T341M PYHIN1_ENST00000392254.2_Missense_Mutation_p.T341M|PYHIN1_ENST00000392252.3_Missense_Mutation_p.T332M|PYHIN1_ENST00000368138.3_Missense_Mutation_p.T332M|PYHIN1_ENST00000485134.1_3'UTR NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 341 HIN-200. cell cycle nuclear speck p.T341M(1) breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) AATAGGAAGACGACAATCTAT 0.353 8 28 --- --- --- --- HMCN1 83872 broad.mit.edu 37 1 186063456 186063456 + Silent SNP C C A TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr1:186063456C>A ENST00000271588.4 + 67 10474 c.10245C>A c.(10243-10245)gcC>gcA p.A3415A HMCN1_ENST00000367492.2_Silent_p.A3415A NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3415 Ig-like C2-type 32. 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 CTTGTGTGGCCTCCAACAGAG 0.413 8 29 --- --- --- --- DGUOK 1716 broad.mit.edu 37 2 74154094 74154094 + Silent SNP C C T TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr2:74154094C>T ENST00000264093.4 + 1 142 c.57C>T c.(55-57)gcC>gcT p.A19A DGUOK_ENST00000462685.1_3'UTR|DGUOK_ENST00000356837.6_Silent_p.A19A|DGUOK_ENST00000348222.1_Silent_p.A19A NM_080916.2 NP_550438.1 Q16854 DGUOK_HUMAN deoxyguanosine kinase 19 guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage mitochondrial matrix ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 8 GTTCCATGGCCAAGAGCCCAC 0.637 3 42 --- --- --- --- NCKAP5 344148 broad.mit.edu 37 2 133538654 133538654 + Missense_Mutation SNP C C A TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr2:133538654C>A ENST00000409261.1 - 15 5393 c.5020G>T c.(5020-5022)Gcc>Tcc p.A1674S NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1674S NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1674 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TCCATATCGGCTTTGATTTTC 0.463 4 16 --- --- --- --- NCKAP5 344148 broad.mit.edu 37 2 133538754 133538754 + Silent SNP A A G TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr2:133538754A>G ENST00000409261.1 - 15 5293 c.4920T>C c.(4918-4920)gcT>gcC p.A1640A NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.A1640A NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1640 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TCCTGCAGGAAGCATTACTTG 0.433 8 35 --- --- --- --- SEPT2 4735 broad.mit.edu 37 2 242289493 242289493 + Silent SNP C C T TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr2:242289493C>T ENST00000391973.2 + 12 1518 c.990C>T c.(988-990)cgC>cgT p.R330R SEPT2_ENST00000360051.3_Silent_p.R330R|SEPT2_ENST00000401990.1_Silent_p.R340R|SEPT2_ENST00000402092.2_Silent_p.R330R|SEPT2_ENST00000391971.2_Silent_p.R330R|SEPT2_ENST00000407971.1_Silent_p.R290R NM_006155.1 NP_006146.1 Q15019 SEPT2_HUMAN septin 2 330 cell division|mitosis actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle GTP binding central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) CACAGCTCCGCCGCATGCAAG 0.502 3 14 --- --- --- --- KCNH8 131096 broad.mit.edu 37 3 19498330 19498330 + Missense_Mutation SNP G G T TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr3:19498330G>T ENST00000328405.2 + 11 2162 c.1896G>T c.(1894-1896)aaG>aaT p.K632N NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 632 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 CAGATGTAAAGGCTTTAACCT 0.393 24 41 --- --- --- --- PNRC1 10957 broad.mit.edu 37 6 89793533 89793533 + Missense_Mutation SNP A A G TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr6:89793533A>G ENST00000336032.3 + 2 719 c.602A>G c.(601-603)cAt>cGt p.H201R PNRC1_ENST00000369472.1_Missense_Mutation_p.H16R|PNRC1_ENST00000354922.3_Missense_Mutation_p.H16R NM_006813.2 NP_006804.1 Q12796 PNRC1_HUMAN proline-rich nuclear receptor coactivator 1 201 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(1)|large_intestine(2)|lung(3) 6 all_cancers(76;3.64e-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;0.102) CAGCTTGTTCATGGTATACAC 0.358 Multiple Myeloma(7;0.094) 20 45 --- --- --- --- ZNF804B 219578 broad.mit.edu 37 7 88963984 88963984 + Missense_Mutation SNP A A C TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr7:88963984A>C ENST00000333190.4 + 4 2297 c.1688A>C c.(1687-1689)aAg>aCg p.K563T NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 563 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) GAGCCAAATAAGAGTGAATAT 0.348 HNSCC(36;0.09) 14 43 --- --- --- --- PPP1R3A 5506 broad.mit.edu 37 7 113519341 113519341 + Silent SNP A A G TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr7:113519341A>G ENST00000284601.3 - 4 1874 c.1806T>C c.(1804-1806)caT>caC p.H602H NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 602 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 CACTAGTCAAATGATGATGCT 0.433 6 104 --- --- --- --- RP1L1 94137 broad.mit.edu 37 8 10468857 10468857 + Silent SNP C C T TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr8:10468857C>T ENST00000382483.3 - 4 2974 c.2751G>A c.(2749-2751)gcG>gcA p.A917A NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 917 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CCCGAGACCCCGCACCCTGGC 0.706 3 17 --- --- --- --- CA2 760 broad.mit.edu 37 8 86386565 86386565 + Missense_Mutation SNP C C T TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr8:86386565C>T ENST00000285379.5 + 4 594 c.364C>T c.(364-366)Cac>Tac p.H122Y NM_000067.2 NP_000058.1 P00918 CAH2_HUMAN carbonic anhydrase II 122 one-carbon metabolic process apical part of cell carbonate dehydratase activity|zinc ion binding central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1) 11 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) TCACTTGGTTCACTGGAACAC 0.408 25 56 --- --- --- --- MCM10 55388 broad.mit.edu 37 10 13240783 13240783 + Silent SNP A A G TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr10:13240783A>G ENST00000378694.1 + 15 2289 c.2214A>G c.(2212-2214)tcA>tcG p.S738S MCM10_ENST00000484800.2_Silent_p.S739S|MCM10_ENST00000378714.3_Silent_p.S738S Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 739 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 AAGCAAAATCAAAACACACAG 0.453 12 28 --- --- --- --- CUBN 8029 broad.mit.edu 37 10 16946102 16946102 + Missense_Mutation SNP C C T TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr10:16946102C>T ENST00000377833.4 - 51 7990 c.7925G>A c.(7924-7926)gGg>gAg p.G2642E NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2642 CUB 19. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CATCAGGGGCCCATCAGCATC 0.373 16 39 --- --- --- --- MMRN2 79812 broad.mit.edu 37 10 88702686 88702686 + Missense_Mutation SNP G G C TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr10:88702686G>C ENST00000372027.5 - 6 2176 c.1855C>G c.(1855-1857)Ctg>Gtg p.L619V NM_024756.2 NP_079032.2 Q9H8L6 MMRN2_HUMAN multimerin 2 extracellular space breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1) 19 ATCTCCTCCAGCACCTCCTCC 0.731 3 12 --- --- --- --- ACCS 84680 broad.mit.edu 37 11 44092838 44092838 + Silent SNP A A G TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr11:44092838A>G ENST00000263776.8 + 3 755 c.321A>G c.(319-321)aaA>aaG p.K107K ACCS_ENST00000432284.2_Silent_p.K107K|ACCS_ENST00000533208.1_3'UTR NM_001127219.1|NM_032592.3 NP_001120691.1|NP_115981.1 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) 107 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1) 35 GTGAGAACAAACTCTGCTTTG 0.582 4 81 --- --- --- --- ZBTB44 29068 broad.mit.edu 37 11 130109742 130109742 + Silent SNP C C T TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr11:130109742C>T ENST00000525842.1 - 3 1435 c.1068G>A c.(1066-1068)acG>acA p.T356T ZBTB44_ENST00000357899.4_Silent_p.T356T|ZBTB44_ENST00000530205.1_Silent_p.T356T|ZBTB44_ENST00000397753.1_Silent_p.T356T NM_014155.4 NP_054874.3 Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 356 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235) TAGTGCTAGACGTGCTTTGAA 0.438 3 15 --- --- --- --- KRT78 196374 broad.mit.edu 37 12 53242526 53242526 + Silent SNP C C A TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr12:53242526C>A ENST00000304620.4 - 1 252 c.189G>T c.(187-189)ggG>ggT p.G63G NM_173352.2 NP_775487.2 Q8N1N4 K2C78_HUMAN keratin 78 63 Gly-rich.|Head. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CAAACCGCACCCCCAGCCTAC 0.642 6 11 --- --- --- --- RIMBP2 23504 broad.mit.edu 37 12 130897244 130897244 + Missense_Mutation SNP A A G TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr12:130897244A>G ENST00000261655.4 - 15 2904 c.2741T>C c.(2740-2742)aTa>aCa p.I914T NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 914 SH3 2. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) ATCTGCTTGTATCTCAGAGAC 0.478 4 45 --- --- --- --- NALCN 259232 broad.mit.edu 37 13 101944385 101944385 + Missense_Mutation SNP T T A TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr13:101944385T>A ENST00000251127.6 - 9 1084 c.1003A>T c.(1003-1005)Atg>Ttg p.M335L NALCN_ENST00000376196.3_Missense_Mutation_p.M335L|NALCN_ENST00000470333.1_5'UTR NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 335 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GATCCCCACATTTGTTGAAAC 0.418 9 34 --- --- --- --- CCNB1IP1 57820 broad.mit.edu 37 14 20781932 20781932 + Missense_Mutation SNP T T C TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr14:20781932T>C ENST00000398169.3 - 6 942 c.326A>G c.(325-327)tAc>tGc p.Y109C CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.Y109C Q9NPC3 CIP1_HUMAN cyclin B1 interacting protein 1, E3 ubiquitin protein ligase 109 chromosome|nucleus ligase activity|metal ion binding|protein binding HMGA2/CCNB1IP1(2) breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 9 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;8.86e-07)|all cancers(55;4.98e-06) GBM - Glioblastoma multiforme(265;0.0164) GCTGAAATTGTATTCTTGATA 0.353 T HMGA2 leiomyoma 13 38 --- --- --- --- SNRPA1 6627 broad.mit.edu 37 15 101832175 101832175 + Missense_Mutation SNP C C T TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr15:101832175C>T ENST00000254193.6 - 3 373 c.301G>A c.(301-303)Gtg>Atg p.V101M SNRPA1_ENST00000560856.1_5'UTR NM_003090.2 NP_003081.2 P09661 RU2A_HUMAN small nuclear ribonucleoprotein polypeptide A' 101 catalytic step 2 spliceosome|nucleoplasm|U2 snRNP protein binding|RNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ACCAGTTCCACGAGACTATTA 0.388 48 128 --- --- --- --- NPIPA1 9284 broad.mit.edu 37 16 15045869 15045869 + Missense_Mutation SNP T T C TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr16:15045869T>C ENST00000328085.6 + 8 1040 c.1040T>C c.(1039-1041)aTc>aCc p.I347T NPIPA1_ENST00000472413.1_3'UTR NM_006985.2 NP_008916.2 nuclear pore complex interacting protein family, member A1 CGGATGATAATCTCAAGAAAC 0.413 7 66 --- --- --- --- PIH1D1 55011 broad.mit.edu 37 19 49949879 49949879 + Missense_Mutation SNP G G A TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr19:49949879G>A ENST00000262265.5 - 8 995 c.760C>T c.(760-762)Cat>Tat p.H254Y PIH1D1_ENST00000602226.1_5'UTR|PIH1D1_ENST00000596049.1_Missense_Mutation_p.H254Y NM_017916.2 NP_060386.1 Q9NWS0 PIHD1_HUMAN PIH1 domain containing 1 254 box C/D snoRNP assembly pre-snoRNP complex NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1) 11 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244) GCGTCTAGATGATACAGCTGC 0.622 33 75 --- --- --- --- KIR3DL1 3811 broad.mit.edu 37 19 55340907 55340907 + Silent SNP C C T TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr19:55340907C>T ENST00000391728.4 + 7 1125 c.1092C>T c.(1090-1092)tgC>tgT p.C364C KIR3DL1_ENST00000358178.4_Silent_p.C269C|KIR3DL1_ENST00000326542.7_Silent_p.C347C|KIR3DL1_ENST00000541392.1_Silent_p.C347C|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Silent_p.C364C NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) atctcTGGTGCTCCAACAAAA 0.532 6 47 --- --- --- --- PLCB4 5332 broad.mit.edu 37 20 9365016 9365016 + Missense_Mutation SNP C C A TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr20:9365016C>A ENST00000378501.2 + 11 1037 c.1022C>A c.(1021-1023)tCt>tAt p.S341Y PLCB4_ENST00000334005.3_Missense_Mutation_p.S341Y|PLCB4_ENST00000278655.4_Missense_Mutation_p.S341Y|PLCB4_ENST00000414679.2_Missense_Mutation_p.S341Y|PLCB4_ENST00000378473.3_Missense_Mutation_p.S341Y|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.S341Y NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 341 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 GGCGGGAAGTCTTCGGTAGAA 0.443 7 52 --- --- --- --- KIF16B 55614 broad.mit.edu 37 20 16485058 16485058 + Missense_Mutation SNP C C T TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr20:16485058C>T ENST00000354981.2 - 10 1292 c.1135G>A c.(1135-1137)Gaa>Aaa p.E379K KIF16B_ENST00000408042.1_Missense_Mutation_p.E379K|KIF16B_ENST00000355755.3_Missense_Mutation_p.E379K|KIF16B_ENST00000378003.2_5'UTR NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 379 cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 CTGGCTATTTCAGCTCGCAGC 0.408 56 108 --- --- --- --- KIF16B 55614 broad.mit.edu 37 20 16485059 16485059 + Silent SNP A A G TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr20:16485059A>G ENST00000354981.2 - 10 1291 c.1134T>C c.(1132-1134)gcT>gcC p.A378A KIF16B_ENST00000408042.1_Silent_p.A378A|KIF16B_ENST00000355755.3_Silent_p.A378A|KIF16B_ENST00000378003.2_5'UTR NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 378 cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TGGCTATTTCAGCTCGCAGCT 0.413 56 107 --- --- --- --- DIP2A 23181 broad.mit.edu 37 21 47961679 47961679 + Silent SNP C C T TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr21:47961679C>T ENST00000318711.7 + 18 2233 c.2050C>T c.(2050-2052)Ctg>Ttg p.L684L DIP2A_ENST00000417564.2_Silent_p.L683L|DIP2A_ENST00000466639.1_Silent_p.L640L|DIP2A_ENST00000427143.2_Silent_p.L619L|DIP2A_ENST00000400274.1_Silent_p.L679L|DIP2A_ENST00000457905.3_Silent_p.L683L|DIP2A_ENST00000435722.3_Silent_p.L683L NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 683 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GCCACCTGATCTGGGAGGACC 0.488 4 34 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151845543 151845555 + Frame_Shift_Del DEL TTAATGGCGCAAG TTAATGGCGCAAG - rs138230031 TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx defe4c4d-743a-4352-8020-f614ba5bfe2d ecf06be2-7f7e-4833-a200-287d4835fec1 g.chr7:151845543_151845555delTTAATGGCGCAAG ENST00000355193.2 - 53 13846_13858 c.13628_13640delCTTGCGCCATTAA c.(13627-13641)acttgcgccattaaafs p.TCAIK4543fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.TCAIK4486fs lysine (K)-specific methyltransferase 2C GCATTGTGCTTTAATGGCGCAAGTGAAGTGATA 0.432 30 97 --- --- --- ---