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 AADACL4 343066 broad.mit.edu 37 1 12726232 12726232 + Missense_Mutation SNP A A G TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr1:12726232A>G uc001auf.3 + 3 710 c.710A>G c.(709-711)cAg>cGg p.Q237R NM_001013630 NP_001013652 Q5VUY2 ADCL4_HUMAN Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA. 237 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|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;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) TCCTTTCAGCAGAACCAAAAT 0.517 C1orf173 127254 broad.mit.edu 37 1 75038917 75038917 + Missense_Mutation SNP G G C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr1:75038917G>C uc001dgg.3 - 13 2696 c.2477C>G c.(2476-2478)aCa>aGa p.T826R NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 826 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 CCTTTTTTCTGTAAACTCTTC 0.582 MAGI3 260425 broad.mit.edu 37 1 114215328 114215328 + Missense_Mutation SNP G G A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr1:114215328G>A uc001edk.3 + 17 3191 c.3010G>A c.(3010-3012)Gca>Aca p.A1004T MAGI3_uc001edh.3_Missense_Mutation_p.A1029T|MAGI3_uc001edi.4_Missense_Mutation_p.A1004T|MAGI3_uc010owm.2_Missense_Mutation_p.A1029T|MAGI3_uc001edj.3_Missense_Mutation_p.A725T NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA. 1029 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding p.T1003T(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCCTGACACCGCAGTAATTTC 0.458 MTMR11 10903 broad.mit.edu 37 1 149906114 149906114 + Missense_Mutation SNP G G A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr1:149906114G>A uc001etl.4 - 6 904 c.653C>T c.(652-654)aCg>aTg p.T218M MTMR11_uc001etm.2_Missense_Mutation_p.T146M|MTMR11_uc010pbm.1_Missense_Mutation_p.T190M|MTMR11_uc010pbn.1_Missense_Mutation_p.T60M NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA. 218 Myotubularin phosphatase. phosphatase activity p.T146M(1)|p.T218M(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) CTCGTTGACCGTGCTGACCCT 0.572 PLXNA2 5362 broad.mit.edu 37 1 208391207 208391207 + Missense_Mutation SNP G G T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr1:208391207G>T uc001hgz.3 - 1 819 c.61C>A c.(61-63)Ctc>Atc p.L21I PLXNA2_uc001hha.4_Missense_Mutation_p.L75I NM_025179 NP_079455 O75051 PLXA2_HUMAN Homo sapiens plexin A2 (PLXNA2), mRNA. 21 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) ACCACTGAGAGCAGGACCACA 0.657 PTEN 5728 broad.mit.edu 37 10 89720805 89720808 + Frame_Shift_Del DEL CTTT CTTT - TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr10:89720805_89720808delCTTT uc001kfb.3 + 7 1988_1991 c.956_959delCTTT c.(955-960)actttafs p.T319fs PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 319 C2 tensin-type. Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.T319fs*1(60)|p.L318fs*2(45)|p.0?(37)|p.T319fs*6(12)|p.T319fs*24(8)|p.L320*(6)|p.R55fs*1(5)|p.T319del(4)|p.L320V(2)|p.T319fs*4(2)|p.T319fs*5(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.T319_K332del(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L316fs*1(1)|p.L318fs*3(1)|p.L318F(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.T318fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CTAGTACTTACTTTAACAAAAAAT 0.328 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) C10orf12 26148 broad.mit.edu 37 10 98743678 98743678 + Missense_Mutation SNP G G T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr10:98743678G>T uc001kmv.3 + 0 2638 c.2531G>T c.(2530-2532)aGg>aTg p.R844M NM_015652 NP_056467 Q8N655 CJ012_HUMAN Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA. 844 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) AGCAAGAAAAGGTCACGGAAA 0.393 CTBP2 1488 broad.mit.edu 37 10 126727602 126727602 + Nonsense_Mutation SNP T T A rs76555439 TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr10:126727602T>A uc009yak.3 - 2 309 c.22A>T c.(22-24)Aaa>Taa p.K8* CTBP2_uc009yal.3_Nonsense_Mutation_p.K8*|CTBP2_uc001lif.4_Nonsense_Mutation_p.K8*|CTBP2_uc001lih.4_Nonsense_Mutation_p.K8* NM_001329 NP_001320 P56545 CTBP2_HUMAN Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA. 8 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) CTCTTGACTTTGTGCTTATCC 0.453 CTBP2 1488 broad.mit.edu 37 10 126727604 126727604 + Missense_Mutation SNP T T C rs78849795 TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr10:126727604T>C uc009yak.3 - 2 307 c.20A>G c.(19-21)cAc>cGc p.H7R CTBP2_uc009yal.3_Missense_Mutation_p.H7R|CTBP2_uc001lif.4_Missense_Mutation_p.H7R|CTBP2_uc001lih.4_Missense_Mutation_p.H7R NM_001329 NP_001320 P56545 CTBP2_HUMAN Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA. 7 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) CTTGACTTTGTGCTTATCCAC 0.453 AMPD3 272 broad.mit.edu 37 11 10514962 10514962 + Missense_Mutation SNP A A T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr11:10514962A>T uc001min.1 + 6 1378 c.1033A>T c.(1033-1035)Aca>Tca p.T345S AMPD3_uc010rbz.1_Missense_Mutation_p.T177S|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.T336S|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.T343S|AMPD3_uc009yfy.2_Missense_Mutation_p.T336S NM_000480 NP_001165902 Q01432 AMPD3_HUMAN Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA. 336 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) CATCAAGCACACATACCAGAC 0.612 VWA5A 4013 broad.mit.edu 37 11 124007318 124007318 + Missense_Mutation SNP C C G TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr11:124007318C>G uc001pzu.3 + 13 1771 c.1562C>G c.(1561-1563)aCa>aGa p.T521R VWA5A_uc001pzt.3_Missense_Mutation_p.T521R NM_001130142 NP_055437 O00534 VMA5A_HUMAN Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA. 521 autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 CTCAAATATACACTCCAGGGC 0.428 DYRK4 8798 broad.mit.edu 37 12 4721722 4721722 + Missense_Mutation SNP C C T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr12:4721722C>T uc009zeh.1 + 13 1546 c.1504C>T c.(1504-1506)Ctt>Ttt p.L502F DYRK4_uc001qmx.3_Missense_Mutation_p.L387F|DYRK4_uc001qmy.2_Missense_Mutation_p.L387F|DYRK4_uc021qtq.1_Missense_Mutation_p.L241F|DYRK4_uc001qmz.2_Missense_Mutation_p.L101F|DYRK4_uc001qna.2_Missense_Mutation_p.L24F|DYRK4_uc010ser.2_Missense_Mutation_p.L24F NM_003845 NP_003836 Q9NR20 DYRK4_HUMAN Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA. 387 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) GGAACCTTCTCTTCGCATGAC 0.448 ABCC9 10060 broad.mit.edu 37 12 21997717 21997717 + Missense_Mutation SNP T T C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr12:21997717T>C uc001rfh.3 - 24 3249 c.3229A>G c.(3229-3231)Atc>Gtc p.I1077V ABCC9_uc001rfi.1_Missense_Mutation_p.I1077V NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 1077 ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GGTCCAAGGATTATCTTATTG 0.368 HOXC11 3227 broad.mit.edu 37 12 54367099 54367099 + Missense_Mutation SNP G G A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr12:54367099G>A uc001sem.3 + 0 190 c.74G>A c.(73-75)cGa>cAa p.R25Q NM_014212 NP_055027 O43248 HXC11_HUMAN Homo sapiens homeobox C11 (HOXC11), mRNA. 25 endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 TTCGGCGAGCGAGGGAGCTGC 0.617 T NUP98 AML TMTC2 160335 broad.mit.edu 37 12 83289748 83289748 + Missense_Mutation SNP G G A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr12:83289748G>A uc001szt.3 + 2 1238 c.806G>A c.(805-807)cGc>cAc p.R269H TMTC2_uc001szr.1_Missense_Mutation_p.R269H|TMTC2_uc001szs.1_Missense_Mutation_p.R269H|TMTC2_uc010suk.2_Missense_Mutation_p.R24H NM_152588 NP_689801 Q8N394 TMTC2_HUMAN Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA. 269 endoplasmic reticulum|integral to membrane binding p.R269S(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 CTCCTCACCCGCACTCTCACC 0.527 HNF1A 6927 broad.mit.edu 37 12 121437175 121437175 + Missense_Mutation SNP C C T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr12:121437175C>T uc001tzg.3 + 7 1629 c.1606C>T c.(1606-1608)Ctc>Ttc p.L536F HNF1A_uc010szn.2_Missense_Mutation_p.L536F|HNF1A_uc021rfa.1_Missense_Mutation_p.L536F|HNF1A_uc021rfb.1_Missense_Mutation_p.L408F|HNF1A_uc021rfc.1_Non-coding_Transcript NM_000545 NP_000536 P20823 HNF1A_HUMAN Homo sapiens HNF1 homeobox A (HNF1A), mRNA. 536 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCTGGCCAGCCTCACGCCCAC 0.672 Hepatic Adenoma, Familial Clustering of DZIP1 22873 broad.mit.edu 37 13 96234520 96234520 + Missense_Mutation SNP C C T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr13:96234520C>T uc001vmk.3 - 22 3424 c.2572G>A c.(2572-2574)Gtg>Atg p.V858M DZIP1_uc001vmj.3_Missense_Mutation_p.V334M|DZIP1_uc001vml.3_Missense_Mutation_p.V839M|DZIP1_uc001vmm.3_Non-coding_Transcript NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA. 858 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) CAATCAGTCACAGTTACTAAG 0.408 OR4K5 79317 broad.mit.edu 37 14 20388930 20388930 + Silent SNP G G T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr14:20388930G>T uc010tkw.2 + 0 165 c.165G>T c.(163-165)ctG>ctT p.L55L NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA. 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATACCAGCCTGCACTCCCCTA 0.408 ZFYVE26 23503 broad.mit.edu 37 14 68274502 68274502 + Missense_Mutation SNP G G A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr14:68274502G>A uc001xka.2 - 4 638 c.499C>T c.(499-501)Cca>Tca p.P167S ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.P167S|ZFYVE26_uc010tta.2_Missense_Mutation_p.P167S NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA. 167 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GCCTGTGCTGGCTGGGGAGAC 0.607 PSEN1 5663 broad.mit.edu 37 14 73678621 73678621 + Missense_Mutation SNP G G C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr14:73678621G>C uc001xnr.3 + 9 1384 c.1100G>C c.(1099-1101)aGt>aCt p.S367T PSEN1_uc001xnv.3_Missense_Mutation_p.S363T|PSEN1_uc010ark.3_Missense_Mutation_p.S363T|PSEN1_uc001xnt.1_Non-coding_Transcript|PSEN1_uc001xnu.3_Non-coding_Transcript NM_000021 NP_000012 P49768 PSN1_HUMAN Homo sapiens presenilin 1 (PSEN1), transcript variant 1, mRNA. 367 Required for interaction with CTNNB1. amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075) CTTTCCAGCAGTATCCTCGCT 0.493 OR4N3P 390539 broad.mit.edu 37 15 22414178 22414178 + Silent SNP A A G TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr15:22414178A>G uc001yuf.3 + 0 717 c.477A>G c.(475-477)acA>acG p.T159T abParts_uc001yuj.2_Intron Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA. CCATGTCCACATGCACCACCC 0.488 NOX5 79400 broad.mit.edu 37 15 69328195 69328195 + Silent SNP G G A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr15:69328195G>A uc002ars.2 + 6 1148 c.1107G>A c.(1105-1107)ccG>ccA p.P369P MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.P323P|NOX5_uc002arp.2_Silent_p.P351P|NOX5_uc010bid.2_Silent_p.P334P|NOX5_uc010bie.2_Silent_p.P169P|NOX5_uc002arr.2_Silent_p.P341P|NOX5_uc010bif.2_Non-coding_Transcript NM_024505 NP_078781 Q96PH1 NOX5_HUMAN Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA. 369 Ferric oxidoreductase. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity p.P351P(1)|p.S369S(1) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 CGGCCTCCCCGACAGGTGTCG 0.632 OTOA 146183 broad.mit.edu 37 16 21726417 21726417 + Missense_Mutation SNP G G A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr16:21726417G>A uc002djh.3 + 12 1433 c.1432G>A c.(1432-1434)Gtc>Atc p.V478I LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.V399I|OTOA_uc002dji.3_Missense_Mutation_p.V154I|OTOA_uc010vbk.2_Missense_Mutation_p.V126I NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA. 492 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix p.V478I(2) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) GAGAAGTGCCGTCTCCCAGTA 0.577 HERPUD1 9709 broad.mit.edu 37 16 56970643 56970643 + Missense_Mutation SNP G G C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr16:56970643G>C uc002eke.1 + 3 754 c.345G>C c.(343-345)caG>caC p.Q115H HERPUD1_uc010vhj.1_Missense_Mutation_p.Q176H|HERPUD1_uc002ekf.1_Missense_Mutation_p.Q114H|HERPUD1_uc002ekg.1_Missense_Mutation_p.Q90H|HERPUD1_uc010cco.1_Missense_Mutation_p.Q176H|HERPUD1_uc010ccp.1_Missense_Mutation_p.Q175H|HERPUD1_uc002ekh.1_5'UTR NM_014685 NP_055500 Q15011 HERP1_HUMAN Homo sapiens homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 (HERPUD1), transcript variant 1, mRNA. 115 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 11 ATCGGGGACAGTATCCTGAGG 0.448 T ERG prostate ANKFY1 51479 broad.mit.edu 37 17 4084568 4084568 + Missense_Mutation SNP C C T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr17:4084568C>T uc002fxn.3 - 15 2464 c.2347G>A c.(2347-2349)Gcc>Acc p.A783T ANKFY1_uc002fxo.3_Missense_Mutation_p.A742T|ANKFY1_uc002fxp.3_Missense_Mutation_p.A740T|ANKFY1_uc010ckp.3_Missense_Mutation_p.A683T|ANKFY1_uc002fxq.1_Missense_Mutation_p.A741T NM_016376 NP_057460 Q9P2R3 ANFY1_HUMAN Homo sapiens ankyrin repeat and FYVE domain containing 1 (ANKFY1), transcript variant 1, mRNA. 741 endosome membrane metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 AGAAAGCAGGCGGTGGGCTCG 0.522 USP6 9098 broad.mit.edu 37 17 5037255 5037255 + Missense_Mutation SNP G G A rs138849740 byFrequency TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr17:5037255G>A uc002gau.1 + 14 2688 c.458G>A c.(457-459)cGg>cAg p.R153Q USP6_uc002gav.1_Missense_Mutation_p.R153Q|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.3_Missense_Mutation_p.R214Q|DQ586040_uc002gay.1_5'Flank|DQ575687_uc021toi.1_5'Flank|DQ570124_uc002gba.3_5'Flank|DQ576627_uc002gbb.3_5'Flank NM_004505 NP_004496 P35125 UBP6_HUMAN Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA. 153 Rab-GAP TBC. protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 ACGACTCTCCGGAACCATGTC 0.562 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts MYH13 8735 broad.mit.edu 37 17 10250061 10250061 + Missense_Mutation SNP C C T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr17:10250061C>T uc002gmk.1 - 12 1289 c.1199G>A c.(1198-1200)gGc>gAc p.G400D MYH13_uc010vvf.1_Missense_Mutation_p.G75D NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 400 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 ACAGCACAGGCCCTTCAGCAT 0.458 KRTAP4-9 100132386 broad.mit.edu 37 17 39261809 39261809 + Missense_Mutation SNP T T C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr17:39261809T>C uc010wfp.2 + 0 169 c.169T>C c.(169-171)Tct>Cct p.S57P NM_001146041 NP_001139513 Q9BYQ8 KRA49_HUMAN Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA. 57 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament p.S57P(2) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 GTGCTGCCAGTCTGTGTGCTG 0.652 CDC27 996 broad.mit.edu 37 17 45219355 45219355 + Frame_Shift_Del DEL C C - TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr17:45219355delC uc002ile.4 - 11 1560 c.1433delG c.(1432-1434)ggtfs p.G478fs CDC27_uc002ild.4_Frame_Shift_Del_p.G472fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.G471fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.G411fs|CDC27_uc010wkq.1_Intron NM_001114091 NP_001107563 P30260 CDC27_HUMAN Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA. 472 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 AGCTAAATAACCTTTCCCCAT 0.368 KIF2B 84643 broad.mit.edu 37 17 51900577 51900577 + Silent SNP G G T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr17:51900577G>T uc002iua.2 + 0 339 c.183G>T c.(181-183)gtG>gtT p.V61V NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN Homo sapiens kinesin family member 2B (KIF2B), mRNA. 61 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.W60L(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TAGAGTGGGTGGAGAAAGCAG 0.557 KIF2B 84643 broad.mit.edu 37 17 51900579 51900579 + Missense_Mutation SNP A A G TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr17:51900579A>G uc002iua.2 + 0 341 c.185A>G c.(184-186)gAg>gGg p.E62G NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN Homo sapiens kinesin family member 2B (KIF2B), mRNA. 62 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GAGTGGGTGGAGAAAGCAGTC 0.552 GRIN2C 2905 broad.mit.edu 37 17 72845978 72845978 + Missense_Mutation SNP G G A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr17:72845978G>A uc002jlt.1 - 6 1742 c.1586C>T c.(1585-1587)aCg>aTg p.T529M GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.T529M NM_000835 NP_000826 Q14957 NMDE3_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA. 529 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) ACTGATGCCCGTCTCCACAAA 0.627 MC5R 4161 broad.mit.edu 37 18 13826125 13826125 + Missense_Mutation SNP A A G TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr18:13826125A>G uc010xaf.2 + 0 583 c.361A>G c.(361-363)Atg>Gtg p.M121V NM_005913 NP_005904 P33032 MC5R_HUMAN Homo sapiens melanocortin 5 receptor (MC5R), mRNA. 121 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 GTTTGACTCCATGATCTGCAT 0.517 CTIF 9811 broad.mit.edu 37 18 46284644 46284644 + Silent SNP A A C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr18:46284644A>C uc002ldd.3 + 8 1298 c.939A>C c.(937-939)ccA>ccC p.P313P CTIF_uc002ldc.3_Silent_p.P313P|CTIF_uc002lde.4_5'Flank NM_001142397 NP_001135869 O43310 CTIF_HUMAN Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA. 313 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding p.P313P(2)|p.P265P(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 31 GGCTGCCCCCACAGCAGTCAG 0.632 MAN2B1 4125 broad.mit.edu 37 19 12769127 12769127 + Missense_Mutation SNP C C T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr19:12769127C>T uc002mub.2 - 8 1217 c.1141G>A c.(1141-1143)Gcg>Acg p.A381T MAN2B1_uc010dyv.1_Missense_Mutation_p.A380T NM_000528 NP_000519 O00754 MA2B1_HUMAN Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA. 381 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GGGCCATCCGCGTAAGGGAAG 0.617 NLRP5 126206 broad.mit.edu 37 19 56565093 56565093 + Missense_Mutation SNP C C T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr19:56565093C>T uc002qmj.3 + 12 3218 c.3218C>T c.(3217-3219)aCg>aTg p.T1073M NLRP5_uc002qmi.3_Missense_Mutation_p.T1054M NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 1073 mitochondrion|nucleolus ATP binding 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) CTGGATCTCACGGACAATGCC 0.587 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr19:58385546G>T uc002qqo.2 - 2 1484 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN Homo sapiens zinc finger protein 814 (ZNF814), mRNA. 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(20) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393 CCDC164 92749 broad.mit.edu 37 2 26647184 26647184 + Silent SNP C C T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr2:26647184C>T uc002rhg.2 + 3 476 c.402C>T c.(400-402)ttC>ttT p.F134F CCDC164_uc010eym.1_Intron NM_145038 NP_659475 Q96MC2 CC164_HUMAN Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA. 134 cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1) 35 AGGACAAATTCGATGAAATCA 0.498 SRBD1 55133 broad.mit.edu 37 2 45801787 45801787 + Missense_Mutation SNP G G A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr2:45801787G>A uc002rus.3 - 7 1224 c.1148C>T c.(1147-1149)aCg>aTg p.T383M NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA. 383 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) GAAGTCAAGCGTGTCTTTGTC 0.393 GALNT5 11227 broad.mit.edu 37 2 158165186 158165186 + Silent SNP A A G TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr2:158165186A>G uc002tzg.3 + 8 2883 c.2628A>G c.(2626-2628)agA>agG p.R876R GALNT5_uc010zci.2_Non-coding_Transcript NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA. 876 Ricin B-type lectin. glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 GTGATAACAGAAACAAAGGGC 0.388 LY75-CD302 4065 broad.mit.edu 37 2 160755282 160755282 + Missense_Mutation SNP C C A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr2:160755282C>A uc002ubb.4 - 1 457 c.383G>T c.(382-384)gGa>gTa p.G128V LY75-CD302_uc010fos.3_Missense_Mutation_p.G128V|LY75-CD302_uc002ubc.4_Missense_Mutation_p.G128V|LY75-CD302_uc010fot.2_Missense_Mutation_p.G128V NM_001198759 NP_001185688 O60449 LY75_HUMAN Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA. 128 Ricin B-type lectin. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding p.G128V(1) TGTGCCATGTCCATCCTTCAG 0.522 VIL1 7429 broad.mit.edu 37 2 219294359 219294359 + Silent SNP C C T rs148795202 TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr2:219294359C>T uc002vib.3 + 6 832 c.810C>T c.(808-810)gtC>gtT p.V270V VIL1_uc010zke.2_5'UTR|VIL1_uc002via.3_Silent_p.V270V|VIL1_uc002vic.1_Silent_p.V270V NM_007127 NP_009058 P09327 VILI_HUMAN Homo sapiens villin 1 (VIL1), mRNA. 270 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGAGGGAAGTCGCCACACGGC 0.622 SPEG 10290 broad.mit.edu 37 2 220344732 220344732 + Missense_Mutation SNP C C T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr2:220344732C>T uc010fwg.3 + 24 5212 c.5212C>T c.(5212-5214)Cgg>Tgg p.R1738W NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 1738 Protein kinase 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GCAGCAGGTGCGGATCTGTGA 0.572 D2HGDH 728294 broad.mit.edu 37 2 242681957 242681957 + Missense_Mutation SNP T T C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr2:242681957T>C uc002wce.1 + 3 631 c.458T>C c.(457-459)aTg>aCg p.M153T D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Missense_Mutation_p.M19T|D2HGDH_uc002wcg.1_Non-coding_Transcript NM_152783 NP_689996 Q8N465 D2HDH_HUMAN Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA. 153 FAD-binding PCMH-type. 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) ACTGCCCGCATGAACCGGGTC 0.642 TNNC2 7125 broad.mit.edu 37 20 44453472 44453472 + Missense_Mutation SNP G G A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr20:44453472G>A uc002xpr.3 - 2 70 c.4_splice c.e2-1 p.T2_splice NM_003279 NP_003270 P02585 TNNC2_HUMAN Homo sapiens troponin C type 2 (fast) (TNNC2), mRNA. 2 TD -> DT (in Ref. 6; AA sequence). muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium ion binding endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(115;0.0122) CTGCTGGTCCGTCTGCAGGAG 0.612 GOLGA4 2803 broad.mit.edu 37 3 37366849 37366849 + Missense_Mutation SNP G G A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr3:37366849G>A uc003cgv.3 + 13 3832 c.3472G>A c.(3472-3474)Gtt>Att p.V1158I GOLGA4_uc010hgr.2_Missense_Mutation_p.V719I|GOLGA4_uc003cgw.3_Missense_Mutation_p.V1180I|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.V1039I NM_002078 NP_002069 Q13439 GOGA4_HUMAN Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA. 1158 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AGAGCAGCTAGTTGAACTGAA 0.383 FAM86DP 692099 broad.mit.edu 37 3 75475655 75475655 + Missense_Mutation SNP C C T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr3:75475655C>T uc003dpp.4 - 6 942 c.583G>A c.(583-585)Gtg>Atg p.V195M FAM86DP_uc003dps.4_Non-coding_Transcript|FAM86DP_uc003dpq.4_Missense_Mutation_p.V103M|FAM86DP_uc003dpr.4_Non-coding_Transcript Homo sapiens family with sequence similarity 86, member D, pseudogene (FAM86DP), non-coding RNA. GTAAAGGCCACGTAGACCTCA 0.647 CEP63 80254 broad.mit.edu 37 3 134225989 134225989 + Missense_Mutation SNP T T C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr3:134225989T>C uc003eqo.1 + 3 532 c.83T>C c.(82-84)cTc>cCc p.L28P CEP63_uc003eql.1_Missense_Mutation_p.L28P|CEP63_uc003eqm.3_Missense_Mutation_p.L28P|CEP63_uc003eqn.1_Missense_Mutation_p.L28P NM_025180 NP_079456 Q96MT8 CEP63_HUMAN Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA. 28 cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 CTACAGGAGCTCATGAAACAG 0.363 HTR3D 200909 broad.mit.edu 37 3 183756271 183756271 + Missense_Mutation SNP C C A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr3:183756271C>A uc011bqv.2 + 6 994 c.994C>A c.(994-996)Cac>Aac p.H332N HTR3D_uc003fmj.3_Missense_Mutation_p.H157N|HTR3D_uc011bqu.2_Missense_Mutation_p.H282N|HTR3D_uc010hxp.3_Missense_Mutation_p.H111N NM_001163646 NP_001157118 Q70Z44 5HT3D_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3 family member D (HTR3D), transcript variant 3, mRNA. 332 integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2) 10 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CCACCTGCTGCACGTGGCCAC 0.652 TRIML2 205860 broad.mit.edu 37 4 189018255 189018255 + Silent SNP G G A rs144128750 TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr4:189018255G>A uc011cle.1 - 6 1002 c.780C>T c.(778-780)tgC>tgT p.C260C TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Silent_p.C185C NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA. 185 B30.2/SPRY. ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) CTCTTATGTGGCATAAACTCA 0.493 HCN1 348980 broad.mit.edu 37 5 45262592 45262592 + Missense_Mutation SNP C C T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr5:45262592C>T uc003jok.3 - 7 2129 c.2104G>A c.(2104-2106)Gcg>Acg p.A702T NM_021072 NP_066550 O60741 HCN1_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA. 702 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.A702A(1) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CTGCAGACCGCGGTGGTGTAG 0.642 RGNEF 64283 broad.mit.edu 37 5 73048878 73048878 + Missense_Mutation SNP G G A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr5:73048878G>A uc010izf.3 + 3 502 c.326G>A c.(325-327)cGc>cAc p.R109H RGNEF_uc011csq.2_Missense_Mutation_p.R109H|RGNEF_uc003kcy.1_Missense_Mutation_p.R109H|RGNEF_uc021yam.1_Missense_Mutation_p.R109H NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA. 109 cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction cytoplasm|plasma membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.25e-51) CAGGCCAATCGCCTCACAGCC 0.617 FBXO38 81545 broad.mit.edu 37 5 147807459 147807459 + Missense_Mutation SNP C C A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr5:147807459C>A uc003lpf.1 + 14 2722 c.2602C>A c.(2602-2604)Cta>Ata p.L868I FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA. 868 cytoplasm|nucleus ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGGAGGCCCCTAACCAGGGC 0.562 FOXI1 2299 broad.mit.edu 37 5 169535162 169535162 + Silent SNP C C A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr5:169535162C>A uc003mai.4 + 1 729 c.684C>A c.(682-684)tcC>tcA p.S228S FOXI1_uc003maj.4_Intron NM_012188 NP_036320 Q12951 FOXI1_HUMAN Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA. 228 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCACAGCCTCCTTGGCCTTAG 0.532 Pendred syndrome DAXX 1616 broad.mit.edu 37 6 33286946 33286946 + Missense_Mutation SNP C C A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr6:33286946C>A uc003oec.3 - 6 2195 c.1991G>T c.(1990-1992)tGt>tTt p.C664F ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|ZBTB22_uc021ywm.1_5'Flank|DAXX_uc021ywn.1_Intron|DAXX_uc021ywo.1_Intron|DAXX_uc011dre.2_Missense_Mutation_p.C676F|DAXX_uc003oed.3_Missense_Mutation_p.C664F|DAXX_uc011drd.2_Missense_Mutation_p.C589F NM_001350 NP_001241646 Q9UER7 DAXX_HUMAN Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA. 664 Interaction with SPOP. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 GGGCAGGGTACATATCTTTTT 0.542 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM IP6K3 117283 broad.mit.edu 37 6 33690701 33690701 + Silent SNP C C T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr6:33690701C>T uc010jvf.2 - 6 1565 c.1029G>A c.(1027-1029)ccG>ccA p.P343P IP6K3_uc003ofb.2_Silent_p.P343P NM_001142883 NP_473452 Q96PC2 IP6K3_HUMAN Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA. 343 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 CGTGAGGATGCGGGCTGCCTG 0.552 ABCB5 340273 broad.mit.edu 37 7 20782599 20782599 + Nonsense_Mutation SNP C C T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr7:20782599C>T uc010kuh.3 + 24 3361 c.3124C>T c.(3124-3126)Cga>Tga p.R1042* ABCB5_uc003suw.4_Nonsense_Mutation_p.R597* NM_001163941 NP_848654 Q2M3G0 ABCB5_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA. 597 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 CAGTATTGAGCGAGGAAAGAC 0.483 C7orf60 154743 broad.mit.edu 37 7 112461814 112461814 + Missense_Mutation SNP T T C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr7:112461814T>C uc011kms.1 - 5 1408 c.1281A>G c.(1279-1281)atA>atG p.I427M C7orf60_uc003vgo.1_Missense_Mutation_p.I401M NM_152556 NP_689769 Q1RMZ1 CG060_HUMAN Homo sapiens chromosome 7 open reading frame 60 (C7orf60), mRNA. 401 breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 17 TTAAAAGTAATATGGGGTCTT 0.398 PPP1R3A 5506 broad.mit.edu 37 7 113518832 113518832 + Missense_Mutation SNP G G A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr7:113518832G>A uc010ljy.1 - 3 2346 c.2315C>T c.(2314-2316)gCg>gTg p.A772V NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 772 glycogen metabolic process integral to membrane p.A772A(1) 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 TGGATCAAACGCTGTTTCCTT 0.403 OR2A1 346528 broad.mit.edu 37 7 144015510 144015510 + Missense_Mutation SNP C C T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr7:144015510C>T uc011kud.2 + 0 293 c.293C>T c.(292-294)aCg>aTg p.T98M OR2A9P_uc003wec.1_Intron NM_001005287 NP_001005287 Q8NGT9 OR2A1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 1 (OR2A1), mRNA. 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(3)|skin(2) 6 Melanoma(164;0.14) GGCTGCATGACGCAGACCTTT 0.577 GIMAP1-GIMAP5 170575 broad.mit.edu 37 7 150417468 150417468 + Missense_Mutation SNP G G A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr7:150417468G>A uc003whq.3 + 2 516 c.376G>A c.(376-378)Gcc>Acc p.A126T GIMAP1-GIMAP5_uc022apw.1_Missense_Mutation_p.A126T NM_130759 NP_570115 Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA. p.A126T(1) TCGGTTCACCGCCCAGGACCA 0.637 FAM110B 90362 broad.mit.edu 37 8 59059573 59059573 + Missense_Mutation SNP G G C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr8:59059573G>C uc022auu.1 + 0 784 c.784G>C c.(784-786)Gac>Cac p.D262H FAM110B_uc003xtj.1_Missense_Mutation_p.D262H NM_147189 NP_671722 Q8TC76 F110B_HUMAN Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA. 262 microtubule organizing center|mitochondrion|nucleus breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2) 26 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) GTCTAAGTCAGACTTGAGTGA 0.562 ZFHX4 79776 broad.mit.edu 37 8 77768255 77768255 + Nonsense_Mutation SNP C C G TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr8:77768255C>G uc003yau.2 + 9 9485 c.9098C>G c.(9097-9099)tCa>tGa p.S3033* ZFHX4_uc003yaw.1_Nonsense_Mutation_p.S2988* NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 2988 V -> G (in dbSNP:rs16939380). 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) CAGCACATTTCAAAAGTGAGG 0.537 HNSCC(33;0.089) FAM83H 286077 broad.mit.edu 37 8 144808629 144808629 + Missense_Mutation SNP C C T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr8:144808629C>T uc003yzk.3 - 4 3071 c.3002G>A c.(3001-3003)cGt>cAt p.R1001H NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA. 1001 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CAGTGACAGACGCCGCGGGCT 0.697 PIP5K1B 8395 broad.mit.edu 37 9 71509330 71509330 + Missense_Mutation SNP A A G TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr9:71509330A>G uc004agu.3 + 7 852 c.547A>G c.(547-549)Atc>Gtc p.I183V PIP5K1B_uc011lrq.2_Missense_Mutation_p.I183V|PIP5K1B_uc004agv.3_Non-coding_Transcript NM_003558 NP_003549 O14986 PI51B_HUMAN Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA. 183 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) AGGCATTAATATCAGGATTGT 0.373 FAM75E1 286234 broad.mit.edu 37 9 90501883 90501883 + Silent SNP C C G TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr9:90501883C>G uc004app.4 + 3 2516 c.2481C>G c.(2479-2481)ctC>ctG p.L827L FAM75E1_uc004apo.1_Silent_p.L639L NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA. 827 integral to membrane TTTCCTTCCTCCATCCCTGCA 0.562 MXRA5 25878 broad.mit.edu 37 X 3240193 3240193 + Missense_Mutation SNP T T C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chrX:3240193T>C uc004crg.4 - 4 3690 c.3533A>G c.(3532-3534)gAg>gGg p.E1178G NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 1178 extracellular region p.E1178D(1) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) AGAAAAAGTCTCTGATGGGGC 0.488 RAI2 10742 broad.mit.edu 37 X 17818870 17818870 + Missense_Mutation SNP C C T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chrX:17818870C>T uc022btm.1 - 0 1261 c.1261G>A c.(1261-1263)Gaa>Aaa p.E421K RAI2_uc004cyf.3_Missense_Mutation_p.E421K|RAI2_uc004cyg.3_Missense_Mutation_p.E421K|RAI2_uc011miy.2_Missense_Mutation_p.E371K|RAI2_uc022btl.1_Missense_Mutation_p.E421K|RAI2_uc004cyh.4_Missense_Mutation_p.E421K|RAI2_uc010nfa.3_Missense_Mutation_p.E421K NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA. 421 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) GCCTTGACTTCGCCGCTGGGG 0.567 KLHL34 257240 broad.mit.edu 37 X 21675213 21675213 + Missense_Mutation SNP C C G TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chrX:21675213C>G uc004czz.1 - 0 1236 c.694G>C c.(694-696)Gta>Cta p.V232L NM_153270 NP_695002 Q8N239 KLH34_HUMAN Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA. 232 BACK. p.D231D(1) cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 CGCCGCAGTACGTCGGCGGGA 0.667 DUSP21 63904 broad.mit.edu 37 X 44703624 44703624 + Silent SNP C C T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chrX:44703624C>T uc004dgd.3 + 0 376 c.246C>T c.(244-246)taC>taT p.Y82Y NM_022076 NP_071359 Q9H596 DUS21_HUMAN Homo sapiens dual specificity phosphatase 21 (DUSP21), mRNA. 82 Sufficient for mitochondrial localization (By similarity).|Tyrosine-protein phosphatase. cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity p.Y82Y(4) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3) 19 CGCGTCTCTACGACTTTTTTG 0.542 EDA2R 60401 broad.mit.edu 37 X 65819404 65819404 + Silent SNP C C T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chrX:65819404C>T uc004dwt.2 - 5 889 c.879G>A c.(877-879)gaG>gaA p.E293E EDA2R_uc004dwr.3_Intron|EDA2R_uc004dws.3_Silent_p.E272E|EDA2R_uc011mpb.2_Non-coding_Transcript|EDA2R_uc011mpc.2_Silent_p.E148E|EDA2R_uc004dwq.3_Silent_p.E272E|EDA2R_uc022byh.1_Silent_p.E274E NM_001242310 NP_001229239 Q9HAV5 TNR27_HUMAN Homo sapiens ectodysplasin A2 receptor (EDA2R), transcript variant 3, mRNA. 272 cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane tumor necrosis factor receptor activity p.E293E(1) breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 CCCCCAAGGTCTCAGCTCCAG 0.547 PCDH11X 27328 broad.mit.edu 37 X 91873723 91873723 + Silent SNP C C A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chrX:91873723C>A uc004efk.2 + 6 4673 c.3828C>A c.(3826-3828)gtC>gtA p.V1276V PCDH11X_uc004efl.2_Silent_p.V1266V|PCDH11X_uc010nmv.2_3'UTR|PCDH11X_uc004efm.2_Silent_p.V1268V|PCDH11X_uc004efn.2_Silent_p.V1258V|PCDH11X_uc004efo.2_Silent_p.V1239V NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA. 1276 homophilic cell adhesion integral to plasma membrane calcium ion binding p.V1276V(2)|p.S1275*(1) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 AATCATCAGTCAGTTTGCAGC 0.517 CSTF2 1478 broad.mit.edu 37 X 100075435 100075435 + Silent SNP G G T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chrX:100075435G>T uc004egh.3 + 0 88 c.30G>T c.(28-30)gcG>gcT p.A10A CSTF2_uc010nnd.3_Silent_p.A10A|CSTF2_uc004egi.3_Silent_p.A10A NM_001325 NP_001316 P33240 CSTF2_HUMAN Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa (CSTF2), mRNA. 10 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cleavage body|mRNA cleavage and polyadenylation specificity factor complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 13 GAGACCCAGCGGTGGATCGTT 0.562 TEX13B 56156 broad.mit.edu 37 X 107224498 107224498 + Missense_Mutation SNP C C G TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chrX:107224498C>G uc004enn.1 - 2 844 c.751G>C c.(751-753)Gtc>Ctc p.V251L NM_031273 NP_112563 Q9BXU2 TX13B_HUMAN Homo sapiens testis expressed 13B (TEX13B), mRNA. 251 breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 AGAAGACAGACATGGCTGTTT 0.552 TRPC5 7224 broad.mit.edu 37 X 111020072 111020072 + Silent SNP G G A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chrX:111020072G>A uc004epl.1 - 10 3310 c.2391C>T c.(2389-2391)gtC>gtT p.V797V NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA. 797 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 AATTAAAAGAGACACTCTTGG 0.483 AFF2 2334 broad.mit.edu 37 X 148059892 148059892 + Silent SNP C C T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chrX:148059892C>T uc004fcp.3 + 18 3956 c.3477_splice c.e18-1 p.C1159_splice AFF2_uc004fcq.3_Splice_Site_p.C1149_splice|AFF2_uc004fcr.3_Splice_Site_p.C1120_splice|AFF2_uc011mxb.2_Splice_Site_p.C1124_splice|AFF2_uc004fcs.3_Splice_Site_p.C1124_splice|AFF2_uc011mxc.2_Splice_Site_p.C800_splice NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 1159 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding 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) ATCACCACAGCTACCGATGTT 0.378 MTMR1 8776 broad.mit.edu 37 X 149931076 149931076 + Silent SNP C C A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chrX:149931076C>A uc004feh.1 + 15 2031 c.1896C>A c.(1894-1896)gtC>gtA p.V632V MTMR1_uc011mya.1_Silent_p.V530V|MTMR1_uc004fei.3_Silent_p.V624V|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Intron NM_003828 NP_003819 Q13613 MTMR1_HUMAN Homo sapiens myotubularin related protein 1 (MTMR1), mRNA. 624 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) TGCTGGCCGTCAGGGCGGAGC 0.627 ABCD1 215 broad.mit.edu 37 X 153008746 153008746 + Missense_Mutation SNP C C T rs74315282 TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chrX:153008746C>T uc004fif.2 + 8 2336 c.1937C>T c.(1936-1938)gCg>gTg p.A646V NM_000033 NP_000024 P33897 ABCD1_HUMAN Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA. 646 ABC transporter. A -> P (in X-ALD). fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity p.Q645Q(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2) 18 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ATCTTCCAGGCGGCCAAGGAC 0.672