Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut PLEKHS1 79949 broad.mit.edu 37 10 115535575 115535575 + Silent SNP T T G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr10:115535575T>G ENST00000354462.3 + 4 389 c.231T>G c.(229-231)ccT>ccG p.P77P PLEKHS1_ENST00000369309.1_Silent_p.P161P|PLEKHS1_ENST00000361048.1_Silent_p.P347P|PLEKHS1_ENST00000369312.4_Silent_p.P245P|PLEKHS1_ENST00000369310.3_Silent_p.P327P pleckstrin homology domain containing, family S member 1 TCCTTTCTCCTCCTGATGTCA 0.433000 40 47 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38936400 38936400 + Missense_Mutation SNP T T C TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr3:38936400T>C ENST00000302328.3 - 15 2657 c.2459A>G c.(2458-2460)aAt>aGt p.N820S SCN11A_ENST00000444237.2_Missense_Mutation_p.N820S|SCN11A_ENST00000456224.3_Missense_Mutation_p.N820S|SCN11A_ENST00000450244.1_Missense_Mutation_p.N820S NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 820 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TAAGTTTCCATTTCTTTCCTC 0.448000 4 46 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53676966 53676966 + Missense_Mutation SNP A A G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr12:53676966A>G ENST00000257934.4 + 15 2936 c.2845A>G c.(2845-2847)Atc>Gtc p.I949V ESPL1_ENST00000552462.1_Missense_Mutation_p.I949V NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 949 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 CCTCCGAAGCATCATCCTCCT 0.532000 7 50 0 0 1 0 0 VTCN1 79679 broad.mit.edu 37 1 117695923 117695923 + Nonsense_Mutation SNP G G A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr1:117695923G>A ENST00000369458.3 - 4 592 c.514C>T c.(514-516)Cga>Tga p.R172* VTCN1_ENST00000328189.3_Nonsense_Mutation_p.R56*|VTCN1_ENST00000539893.1_Nonsense_Mutation_p.R77*|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000359008.4_Nonsense_Mutation_p.R175* NM_024626.3 NP_078902.2 Q7Z7D3 VTCN1_HUMAN V-set domain containing T cell activation inhibitor 1 172 Ig-like V-type 2. integral to membrane|plasma membrane large_intestine(7)|lung(4)|upper_aerodigestive_tract(1) 12 Lung SC(450;0.225) all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05) Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23) GGGAACCATCGGGGAGCCTCA 0.552000 17 34 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34099346 34099346 + Missense_Mutation SNP T T A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr20:34099346T>A ENST00000397527.1 + 35 7940 c.7220T>A c.(7219-7221)cTg>cAg p.L2407Q CEP250_ENST00000342580.4_Missense_Mutation_p.L2351Q NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 2407 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GCCACTGTCCTGGAGGCAGAG 0.647000 3 41 0 0 1 0 0 FTSJD1 0 broad.mit.edu 37 16 71318227 71318227 + Missense_Mutation SNP A A C TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr16:71318227A>C ENST00000338099.5 - 3 1933 c.1597T>G c.(1597-1599)Ttg>Gtg p.L533V FTSJD1_ENST00000434935.2_Missense_Mutation_p.L533V Q8IYT2 FTSJ1_HUMAN 533 integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTGGAATCCAAATTAAAAGCT 0.343000 33 19 0 0 1 0 0 OR4D2 124538 broad.mit.edu 37 17 56247778 56247778 + Missense_Mutation SNP C C A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr17:56247778C>A ENST00000545221.1 + 1 762 c.762C>A c.(760-762)agC>agA p.S254R NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 254 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 TCGTTCCAAGCATTTACCTCT 0.537000 33 3 9.17885e-22 1.08477e-21 1 1 0 AFF3 3899 broad.mit.edu 37 2 100623893 100623893 + Silent SNP C C G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr2:100623893C>G ENST00000317233.4 - 5 439 c.204G>C c.(202-204)cgG>cgC p.R68R AFF3_ENST00000409236.1_Silent_p.R68R|AFF3_ENST00000409579.1_Silent_p.R93R|AFF3_ENST00000356421.2_Silent_p.R93R NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 68 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.R93R(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TGTTCTGGATCCGGTTGGAGA 0.433000 45 79 0 0 1 0 0 ACKR2 1238 broad.mit.edu 37 3 42906763 42906763 + Missense_Mutation SNP G G C TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr3:42906763G>C ENST00000422265.1 + 3 944 c.769G>C c.(769-771)Gtg>Ctg p.V257L ACKR2_ENST00000273145.2_Missense_Mutation_p.V257L|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.V257L|ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron NM_001296.4 NP_001287.2 atypical chemokine receptor 2 AGCCTTGGTGGTGGCCTTCTT 0.532000 47 70 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 69349172 69349172 + Missense_Mutation SNP T T C TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr6:69349172T>C ENST00000370598.1 + 3 1426 c.605T>C c.(604-606)tTg>tCg p.L202S NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 202 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) CCTCAGCATTTGGGAGAGTGG 0.473000 25 38 0 0 1 0 0 XPNPEP2 7512 broad.mit.edu 37 X 128894500 128894500 + Missense_Mutation SNP C C T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chrX:128894500C>T ENST00000371106.3 + 16 1633 c.1441C>T c.(1441-1443)Cgt>Tgt p.R481C NM_003399.5 NP_003390.4 O43895 XPP2_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound 481 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 37 GGCATACACCCGTGTGCTGAT 0.552000 129 166 0 0 1 0 0 ELF4 2000 broad.mit.edu 37 X 129200819 129200819 + Silent SNP G G A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chrX:129200819G>A ENST00000308167.5 - 9 2248 c.1869C>T c.(1867-1869)tcC>tcT p.S623S ELF4_ENST00000335997.7_Silent_p.S623S NM_001421.3 NP_001412.1 Q99607 ELF4_HUMAN E74-like factor 4 (ets domain transcription factor) 623 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 22 CCATCAGCAGGGACCCTGAGC 0.592000 T ERG AML 19 78 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24601303 24601303 + Nonsense_Mutation SNP G G T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr6:24601303G>T ENST00000378214.3 - 2 553 c.29C>A c.(28-30)tCa>tAa p.S10* KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.S10*|KIAA0319_ENST00000430948.2_Intron|KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.S10*|KIAA0319_ENST00000535378.1_5'UTR NM_001168375.1|NM_014809.3 NP_001161847.1|NP_055624.2 Q5VV43 K0319_HUMAN KIAA0319 10 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 CAGCAGCAATGAAGAGAGCAC 0.532000 5 88 0.248553 0.25178 1 1 0 TRIM72 493829 broad.mit.edu 37 16 31234164 31234164 + Missense_Mutation SNP G G T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr16:31234164G>T ENST00000322122.3 + 6 1041 c.757G>T c.(757-759)Gca>Tca p.A253S NM_001008274.3 NP_001008275.2 Q6ZMU5 TRI72_HUMAN tripartite motif containing 72 253 exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization cytoplasmic vesicle membrane|sarcolemma phosphatidylserine binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1) 15 GAAGATCCTGGCAGAGTCTCC 0.612000 3 25 0.115264 0.118297 1 1 0 C3orf56 285311 broad.mit.edu 37 3 126915864 126915864 + Silent SNP C C T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr3:126915864C>T ENST00000398112.1 + 2 576 c.336C>T c.(334-336)gaC>gaT p.D112D NM_001007534.2 NP_001007535.1 chromosome 3 open reading frame 56 breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) CCAGCTTTGACCCCCTCATAG 0.577000 32 155 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977358 29977358 + RNA SNP T T C rs146982767 by1000genomes TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr6:29977358T>C ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA GATTTGTTCATGCCTTCCCTT 0.448000 4 41 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228462109 228462109 + Missense_Mutation SNP C C G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr1:228462109C>G ENST00000570156.2 + 23 6846 c.6772C>G c.(6772-6774)Cgt>Ggt p.R2258G OBSCN_ENST00000359599.6_Missense_Mutation_p.R730G|OBSCN_ENST00000284548.11_Missense_Mutation_p.R1883G|OBSCN_ENST00000422127.1_Missense_Mutation_p.R1883G|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1241 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GTGTGAGAGCCGTGATGACCA 0.647000 17 32 0 0 1 0 0 WISP1 8840 broad.mit.edu 37 8 134233084 134233084 + Splice_Site SNP G G T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr8:134233084G>T ENST00000250160.6 + 3 716 c.610_splice c.e3+1 p.D204_splice WISP1_ENST00000519433.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron NM_003882.3 NP_003873.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 204 cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) AGGAGCCTTCGGTGGGTGTGG 0.627000 13 33 2.31682e-05 2.47551e-05 1 1 0 ZDBF2 57683 broad.mit.edu 37 2 207170014 207170014 + Missense_Mutation SNP T T A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr2:207170014T>A ENST00000374423.3 + 5 1148 c.762T>A c.(760-762)caT>caA p.H254Q NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 254 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 ATCAGAAACATAAAGAATCAA 0.358000 6 18 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43495935 43495935 + Missense_Mutation SNP A A T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr7:43495935A>T ENST00000395891.1 + 13 3145 c.2540A>T c.(2539-2541)tAt>tTt p.Y847F HECW1_ENST00000453890.1_Missense_Mutation_p.Y813F NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 847 WW 1. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CGGGTCTTTTATGTGGACCAC 0.537000 26 30 0 0 1 0 0 PPP4R4 57718 broad.mit.edu 37 14 94718134 94718134 + Missense_Mutation SNP C C A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr14:94718134C>A ENST00000304338.3 + 16 1920 c.1766C>A c.(1765-1767)aCc>aAc p.T589N NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 589 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 TTTTTGGATACCTGTGAATTT 0.289000 22 46 2.89027e-11 3.29111e-11 1 1 0 COL4A1 1282 broad.mit.edu 37 13 110814789 110814789 + Splice_Site SNP C C A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr13:110814789C>A ENST00000375820.4 - 48 4371 c.4249_splice c.e48-1 p.G1417_splice COL4A1_ENST00000467182.1_5'UTR NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1417 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) TCCTCTTGGACCTGGAAGATA 0.468000 12 38 4.3838e-07 4.78233e-07 1 1 0 DHRS7C 201140 broad.mit.edu 37 17 9676168 9676168 + Missense_Mutation SNP C C T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr17:9676168C>T ENST00000330255.4 - 5 658 c.646G>A c.(646-648)Gtc>Atc p.V216I DHRS7C_ENST00000571134.1_Missense_Mutation_p.V215I NM_001220493.1 NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 216 extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 GTGCTGATGACAACATCGTAT 0.567000 15 2 0 0 1 0 0 GAS8 2622 broad.mit.edu 37 16 90106851 90106851 + Missense_Mutation SNP C C G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr16:90106851C>G ENST00000268699.4 + 9 1277 c.1155C>G c.(1153-1155)ttC>ttG p.F385L GAS8_ENST00000536122.1_Missense_Mutation_p.F360L|GAS8_ENST00000540721.1_3'UTR|URAHP_ENST00000409873.1_Intron NM_001481.2 NP_001472.1 O95995 GAS8_HUMAN growth arrest-specific 8 385 negative regulation of cell proliferation|sperm motility cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum protein binding endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.029) AGGTGCAGTTCAACGAGGTCC 0.622000 14 2 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 54025336 54025336 + Missense_Mutation SNP G G T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr15:54025336G>T ENST00000396328.1 - 2 250 c.11C>A c.(10-12)tCc>tAc p.S4Y WDR72_ENST00000559418.1_Missense_Mutation_p.S4Y|WDR72_ENST00000557913.1_Missense_Mutation_p.S4Y|WDR72_ENST00000360509.5_Missense_Mutation_p.S4Y NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 4 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) TGCCTGCAGGGAAGTCCTCAT 0.473000 24 31 8.58068e-18 9.91546e-18 1 1 0 B3GNT9 84752 broad.mit.edu 37 16 67183601 67183601 + Missense_Mutation SNP G G A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr16:67183601G>A ENST00000449549.3 - 2 1323 c.788C>T c.(787-789)cCc>cTc p.P263L NM_033309.2 NP_171608.2 Q6UX72 B3GN9_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 263 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 CGTGCGGATGGGCCGCGCATG 0.657000 4 15 0 0 1 0 0 ELMSAN1 91748 broad.mit.edu 37 14 74206182 74206182 + Missense_Mutation SNP C C T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr14:74206182C>T ENST00000286523.5 - 2 1312 c.530G>A c.(529-531)cGc>cAc p.R177H ELMSAN1_ENST00000394071.2_Missense_Mutation_p.R177H NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 TCGCACATAGCGGTCCAGCTG 0.617000 21 33 0 0 1 0 0 HEPACAM 220296 broad.mit.edu 37 11 124793827 124793827 + Silent SNP T T G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr11:124793827T>G ENST00000298251.4 - 3 912 c.507A>C c.(505-507)tcA>tcC p.S169S NM_152722.4 NP_689935.2 Q14CZ8 HECAM_HUMAN hepatic and glial cell adhesion molecule 169 Ig-like C2-type. cell adhesion|cell cycle arrest|regulation of growth cytoplasm|integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) CATTCTCATGTGAGCAGTTCA 0.582000 10 6 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 24 0 0 1 0 0 TRIM71 131405 broad.mit.edu 37 3 32932438 32932438 + Missense_Mutation SNP A A T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr3:32932438A>T ENST00000383763.4 + 4 1805 c.1742A>T c.(1741-1743)aAg>aTg p.K581M NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 581 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GTGGTGGTCAAGTCAGGCCGC 0.602000 24 19 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228412361 228412361 + Missense_Mutation SNP C C G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr1:228412361C>G ENST00000570156.2 + 10 3205 c.3131C>G c.(3130-3132)gCa>gGa p.A1044G OBSCN_ENST00000284548.11_Missense_Mutation_p.A952G|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.A952G NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1044 Ig-like 10. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GTGCAGCAGGCAGGCCAGGCG 0.602000 20 22 0 0 1 0 0 TAF5L 27097 broad.mit.edu 37 1 229738306 229738306 + Missense_Mutation SNP T T C TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr1:229738306T>C ENST00000366675.3 - 4 696 c.608A>G c.(607-609)aAg>aGg p.K203R TAF5L_ENST00000366676.1_Missense_Mutation_p.K203R|TAF5L_ENST00000258281.2_Missense_Mutation_p.K203R NM_001025247.1 NP_001020418.1 O75529 TAF5L_HUMAN TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 203 histone H3 acetylation|transcription from RNA polymerase II promoter STAGA complex|transcription factor TFTC complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1) 11 Breast(184;0.193)|Ovarian(103;0.249) Prostate(94;0.167) GTCTGTTCTCTTGGCAGGCTG 0.527000 23 33 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140846798 140846798 + Missense_Mutation SNP A A G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr9:140846798A>G ENST00000371372.1 + 7 1184 c.1039A>G c.(1039-1041)Atg>Gtg p.M347V CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.M347V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.M347V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.M347V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.M347V NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 347 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CTCCTTCTTCATGCTCAACCT 0.587000 3 39 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56467779 56467779 + Missense_Mutation SNP G G C TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr6:56467779G>C ENST00000370754.5 - 42 11108 c.11109C>G c.(11107-11109)ttC>ttG p.F3703L DST_ENST00000361203.3_Missense_Mutation_p.F3525L|DST_ENST00000312431.6_Missense_Mutation_p.F3525L|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.F3199L|DST_ENST00000370769.4_Missense_Mutation_p.F3525L Q03001 DYST_HUMAN dystonin 3525 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CCCAATCTGAGAATGACTTAA 0.338000 3 48 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142583149 142583149 + Missense_Mutation SNP A A C TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr7:142583149A>C ENST00000359396.3 - 1 358 c.113T>G c.(112-114)cTg>cGg p.L38R RP11-114L10.2_ENST00000438839.1_RNA NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 38 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) CTGCTGCAGCAGGTTCTGCTC 0.607000 30 38 0 0 1 0 0 PBRM1 55193 broad.mit.edu 37 3 52598071 52598071 + Silent SNP G G A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr3:52598071G>A ENST00000356770.4 - 22 3776 c.3774C>T c.(3772-3774)taC>taT p.Y1258Y SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000296302.7_Silent_p.Y1290Y|PBRM1_ENST00000409767.1_Silent_p.Y1305Y|PBRM1_ENST00000394830.3_Silent_p.Y1265Y|PBRM1_ENST00000409114.3_Silent_p.Y1305Y|PBRM1_ENST00000337303.4_Silent_p.Y1290Y|PBRM1_ENST00000409057.1_Silent_p.Y1290Y|PBRM1_ENST00000410007.1_Silent_p.Y1265Y Q86U86 PB1_HUMAN polybromo 1 1290 BAH 2. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding p.?(3) breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TTTACCTGAAGTAGTAAATTT 0.348000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 30 30 0 0 1 0 0 FLVCR2 55640 broad.mit.edu 37 14 76091035 76091035 + Missense_Mutation SNP T T G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr14:76091035T>G ENST00000238667.4 + 3 1248 c.892T>G c.(892-894)Tta>Gta p.L298V FLVCR2_ENST00000539311.1_Missense_Mutation_p.L93V|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000556856.1_Missense_Mutation_p.L46V|FLVCR2_ENST00000553587.1_Missense_Mutation_p.L46V NM_017791.2 NP_060261.2 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular receptor family, member 2 298 transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 BRCA - Breast invasive adenocarcinoma(234;0.029) TGCCTCATACTTAGGTTCCAT 0.473000 35 41 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238266526 238266526 + Splice_Site SNP C C A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr2:238266526C>A ENST00000295550.4 - 22 6924 c.e22-1 COL6A3_ENST00000347401.3_Splice_Site|COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.?(1) breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTGGGTTACCCTGAAAGCAAC 0.527000 92 10 1.74666e-38 2.16253e-38 1 1 0 AHDC1 27245 broad.mit.edu 37 1 27874315 27874315 + Missense_Mutation SNP C C G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr1:27874315C>G ENST00000374011.2 - 6 5280 c.4312G>C c.(4312-4314)Gct>Cct p.A1438P AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.A1438P NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1438 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) TGGGCTGCAGCTGCGTGGCCC 0.682000 3 19 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10446277 10446277 + Silent SNP C C T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr17:10446277C>T ENST00000245503.5 - 10 1203 c.819G>A c.(817-819)aaG>aaA p.K273K CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.K273K|MYH2_ENST00000532183.1_Silent_p.K273K NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 273 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CAACTCTAGACTTCTCTAGCA 0.313000 3 19 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28437221 28437221 + Silent SNP C C A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr15:28437221C>A ENST00000261609.7 - 53 8445 c.8337G>T c.(8335-8337)ctG>ctT p.L2779L NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2779 DOC. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ACCAGCTGTCCAGCAGCATGC 0.567000 OREG0022997 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 61 80 7.577e-32 9.23447e-32 1 1 0 MLC1 23209 broad.mit.edu 37 22 50500057 50500057 + Silent SNP G G A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr22:50500057G>A ENST00000311597.5 - 12 1695 c.1089C>T c.(1087-1089)gaC>gaT p.D363D MLC1_ENST00000450140.2_Silent_p.D311D|MLC1_ENST00000395876.2_Silent_p.D363D|MLC1_ENST00000431262.2_Silent_p.D333D|MLC1_ENST00000535444.1_Silent_p.D284D|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000538737.1_Silent_p.D329D NM_015166.3 NP_055981.1 Q15049 MLC1_HUMAN megalencephalic leukoencephalopathy with subcortical cysts 1 363 basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3) 18 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) CTTTCTCCTTGTCGAACTCCT 0.642000 25 25 0 0 1 0 0 ZC3H4 23211 broad.mit.edu 37 19 47593282 47593282 + Missense_Mutation SNP G G T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr19:47593282G>T ENST00000253048.5 - 5 694 c.657C>A c.(655-657)gaC>gaA p.D219E ZC3H4_ENST00000594019.1_5'UTR NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 219 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) CTTTGGTGAAGTCGTCATAGT 0.582000 18 23 3.32936e-07 3.65761e-07 1 1 0 FAM71F2 346653 broad.mit.edu 37 7 128312528 128312528 + Missense_Mutation SNP T T G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr7:128312528T>G ENST00000480462.1 + 1 183 c.77T>G c.(76-78)cTt>cGt p.L26R FAM71F2_ENST00000477515.1_Missense_Mutation_p.L26R|FAM71F2_ENST00000378704.3_Missense_Mutation_p.L26R|FAM71F2_ENST00000460349.1_3'UTR Q6NXP2 F71F2_HUMAN family with sequence similarity 71, member F2 26 NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2) 7 GAAAATGGCCTTCTTTGTCAA 0.498000 OREG0018296 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 6 0 0 1 0 0 ZNF556 80032 broad.mit.edu 37 19 2877442 2877442 + Silent SNP G G A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr19:2877442G>A ENST00000586426.1 + 4 570 c.483G>A c.(481-483)ctG>ctA p.L161L ZNF556_ENST00000307635.2_Silent_p.L162L Q9HAH1 ZN556_HUMAN zinc finger protein 556 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCATCCCTGATAAGGCACA 0.428000 40 51 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100679631 100679631 + Missense_Mutation SNP G G C TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr7:100679631G>C ENST00000306151.4 + 3 4998 c.4934G>C c.(4933-4935)aGt>aCt p.S1645T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1645 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCGGTGGCCAGTCCTGAGGCT 0.493000 116 102 0 0 1 0 0 PSMA6 5687 broad.mit.edu 37 14 35782199 35782199 + Missense_Mutation SNP G G C TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr14:35782199G>C ENST00000261479.4 + 5 642 c.522G>C c.(520-522)gaG>gaC p.E174D PSMA6_ENST00000556506.1_Missense_Mutation_p.E174D|PSMA6_ENST00000553809.1_Missense_Mutation_p.E180D|PSMA6_ENST00000540871.1_Missense_Mutation_p.E155D|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000555764.1_Missense_Mutation_p.E95D NM_002791.1 NP_002782.1 P60900 PSA6_HUMAN proteasome (prosome, macropain) subunit, alpha type, 6 174 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1) 10 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) AACAAACTGAGTCAACCAGCT 0.403000 9 134 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977359 29977359 + RNA SNP G G A rs3831361 by1000genomes TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr6:29977359G>A ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA ATTTGTTCATGCCTTCCCTTT 0.453000 4 41 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129558643 129558643 + Missense_Mutation SNP T T G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr12:129558643T>G ENST00000422113.2 - 9 3403 c.3077A>C c.(3076-3078)gAt>gCt p.D1026A TMEM132D_ENST00000389441.4_Missense_Mutation_p.D564A NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 1026 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) ATCTTTCCCATCAATGATGAT 0.468000 16 67 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168175430 168175430 + Missense_Mutation SNP T T A rs34681650 TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr5:168175430T>A ENST00000519560.1 - 20 2566 c.2147A>T c.(2146-2148)gAg>gTg p.E716V SLIT3_ENST00000404867.3_Missense_Mutation_p.E716V|SLIT3_ENST00000332966.8_Missense_Mutation_p.E716V NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 716 LRRNT 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCAGCTACTCTCCTCGTTGCC 0.642000 9 39 0 0 1 0 0 METTL18 92342 broad.mit.edu 37 1 169762232 169762232 + Missense_Mutation SNP C C G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr1:169762232C>G ENST00000310392.4 - 2 958 c.605G>C c.(604-606)gGt>gCt p.G202A METTL18_ENST00000303469.2_Missense_Mutation_p.G202A|C1orf112_ENST00000498289.1_Intron NM_033418.2 NP_219486.1 O95568 MET18_HUMAN methyltransferase like 18 202 cytoplasm protein methyltransferase activity kidney(1)|large_intestine(3)|lung(4) 8 TGCAGTTATACCTAGTAAACC 0.393000 47 59 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112175856 112175856 + Nonsense_Mutation SNP T T G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr5:112175856T>G ENST00000457016.1 + 16 4945 c.4565T>G c.(4564-4566)tTa>tGa p.L1522* APC_ENST00000257430.4_Nonsense_Mutation_p.L1522*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.L1522* P25054 APC_HUMAN adenomatous polyposis coli 1522 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.K1454fs*3(1)|p.D1519fs*2(1)|p.K1192fs*3(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GATGTGGAATTAAGAATAATG 0.398000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 30 34 0 0 1 0 0 TFRC 7037 broad.mit.edu 37 3 195800839 195800839 + Silent SNP C C T rs150889988 TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr3:195800839C>T ENST00000360110.4 - 4 565 c.396G>A c.(394-396)tcG>tcA p.S132S TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Intron|TFRC_ENST00000392396.3_Silent_p.S132S|TFRC_ENST00000420415.1_Silent_p.S51S NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 132 cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) CCAGTTTCTCCGACAACTTTC 0.517000 T BCL6 NHL OREG0016005 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 31 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9416222 9416222 + Nonsense_Mutation SNP T T G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr20:9416222T>G ENST00000378501.2 + 25 2519 c.2504T>G c.(2503-2505)tTa>tGa p.L835* PLCB4_ENST00000378473.3_Nonsense_Mutation_p.L847*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.L835*|PLCB4_ENST00000378493.1_Nonsense_Mutation_p.L835*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.L835*|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.L847* NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 835 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 GTGGATGCTTTATCAGATCCA 0.338000 14 27 0 0 1 0 0 AASS 10157 broad.mit.edu 37 7 121753718 121753718 + Missense_Mutation SNP G G T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr7:121753718G>T ENST00000393376.1 - 9 1195 c.1100C>A c.(1099-1101)aCt>aAt p.T367N AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.T367N Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 367 Lysine-ketoglutarate reductase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) TGTACACTCAGTCATAAACTC 0.378000 5 29 0.184627 0.188247 1 1 0 ACSS2 55902 broad.mit.edu 37 20 33509154 33509154 + Missense_Mutation SNP G G T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr20:33509154G>T ENST00000360596.2 + 11 1510 c.1299G>T c.(1297-1299)caG>caT p.Q433H ACSS2_ENST00000253382.5_Missense_Mutation_p.Q446H|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.Q383H NM_018677.3 NP_061147.1 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 433 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9) 21 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CATCCTTGCAGGTGTTAGGCA 0.602000 7 64 3.09899e-07 3.42866e-07 1 1 0 TSC22D4 81628 broad.mit.edu 37 7 100075364 100075364 + Missense_Mutation SNP G G C TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr7:100075364G>C ENST00000300181.2 - 2 1052 c.298C>G c.(298-300)Ctg>Gtg p.L100V TSC22D4_ENST00000393991.1_Intron NM_030935.3 NP_112197.1 Q9Y3Q8 T22D4_HUMAN TSC22 domain family, member 4 100 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGGGGCTCCAGGTCTCGCTCA 0.662000 4 4 0 0 1 0 0 CENPJ 55835 broad.mit.edu 37 13 25478177 25478177 + Missense_Mutation SNP C C G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr13:25478177C>G ENST00000381884.4 - 8 2897 c.2712G>C c.(2710-2712)caG>caC p.Q904H CENPJ_ENST00000545981.1_Missense_Mutation_p.Q904H NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 904 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) CTCTCAAAACCTGGGATCGAG 0.368000 28 55 0 0 1 0 0 FES 2242 broad.mit.edu 37 15 91437015 91437015 + Missense_Mutation SNP G G T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr15:91437015G>T ENST00000328850.3 + 17 2319 c.2177G>T c.(2176-2178)tGg>tTg p.W726L FES_ENST00000444422.2_Missense_Mutation_p.W656L|FES_ENST00000450438.2_Missense_Mutation_p.W598L|FES_ENST00000394302.1_Missense_Mutation_p.W585L|FES_ENST00000394300.3_Missense_Mutation_p.W668L|FES_ENST00000414248.2_Missense_Mutation_p.W598L NM_002005.3 NP_001996.1 P07332 FES_HUMAN feline sarcoma oncogene 726 Protein kinase. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CCCGTGAAGTGGACCGCACCT 0.617000 8 85 1.06961e-07 1.19185e-07 1 1 0 SCMH1 22955 broad.mit.edu 37 1 41512096 41512096 + Missense_Mutation SNP T T C TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr1:41512096T>C ENST00000402904.2 - 12 1819 c.1451A>G c.(1450-1452)cAc>cGc p.H484R SCMH1_ENST00000456518.2_Missense_Mutation_p.H326R|SCMH1_ENST00000397171.2_Missense_Mutation_p.H423R|SCMH1_ENST00000397174.2_Missense_Mutation_p.H464R|SCMH1_ENST00000372595.1_Missense_Mutation_p.H423R|SCMH1_ENST00000372596.1_Missense_Mutation_p.H423R|SCMH1_ENST00000372597.1_Missense_Mutation_p.H437R|SCMH1_ENST00000361191.5_Missense_Mutation_p.H423R|SCMH1_ENST00000337495.5_Missense_Mutation_p.H494R|SCMH1_ENST00000326197.7_Missense_Mutation_p.H484R|SCMH1_ENST00000361705.3_Missense_Mutation_p.H437R NM_001031694.2 NP_001026864.1 Q96GD3 SCMH1_HUMAN sex comb on midleg homolog 1 (Drosophila) 484 anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) GTACCTGTCGTGGCTGTGGCT 0.582000 15 22 0 0 1 0 0 NRG2 9542 broad.mit.edu 37 5 139232605 139232605 + Missense_Mutation SNP G G A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr5:139232605G>A ENST00000541337.1 - 5 1331 c.1102C>T c.(1102-1104)Cgg>Tgg p.R368W NRG2_ENST00000289409.4_Missense_Mutation_p.R428W|NRG2_ENST00000394770.1_3'UTR|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000340391.3_Missense_Mutation_p.R231W|NRG2_ENST00000545385.1_Missense_Mutation_p.R436W|NRG2_ENST00000358522.3_Missense_Mutation_p.R436W|NRG2_ENST00000361474.1_Missense_Mutation_p.R434W|NRG2_ENST00000289422.7_Missense_Mutation_p.R442W NM_001184935.1 NP_001171864.1 O14511 NRG2_HUMAN neuregulin 2 434 EGF-like. embryo development extracellular region|integral to membrane|plasma membrane growth factor activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCTGCTTCCGCTGTTTTCTG 0.597000 64 3 0 0 1 0 0 CCR1 1230 broad.mit.edu 37 3 46244792 46244792 + Missense_Mutation SNP C C G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr3:46244792C>G ENST00000296140.3 - 2 1138 c.1013G>C c.(1012-1014)aGg>aCg p.R338T CCR3_ENST00000357422.2_Intron NM_001295.2 NP_001286.1 P32246 CCR1_HUMAN chemokine (C-C motif) receptor 1 338 cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) GGAGCTGACCCTCTCCAGCCT 0.587000 17 14 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50140068 50140068 + Missense_Mutation SNP C C T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr20:50140068C>T ENST00000371564.3 - 2 931 c.712G>A c.(712-714)Gtg>Atg p.V238M NFATC2_ENST00000414705.1_Missense_Mutation_p.V218M|NFATC2_ENST00000396009.3_Missense_Mutation_p.V238M NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 238 3 X approximate SP repeats. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity p.V238L(1) EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) GGACGGGGCACGGGCGAGTGG 0.667000 41 79 0 0 1 0 0 PRDM8 56978 broad.mit.edu 37 4 81123131 81123131 + Missense_Mutation SNP C C T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr4:81123131C>T ENST00000339711.4 + 10 1746 c.515C>T c.(514-516)gCg>gTg p.A172V PRDM8_ENST00000504452.1_Missense_Mutation_p.A172V|PRDM8_ENST00000415738.2_Missense_Mutation_p.A172V NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 CCCTATGTGGCGCATCTGCGT 0.597000 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 67 86 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37676290 37676290 + Silent SNP A A G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr17:37676290A>G ENST00000447079.4 + 11 3078 c.3045A>G c.(3043-3045)ctA>ctG p.L1015L CDK12_ENST00000430627.2_Silent_p.L1015L NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1015 Protein kinase. mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 AACAGACCCTACAGAGCGACT 0.473000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 33 9 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141762491 141762491 + Missense_Mutation SNP G G T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr7:141762491G>T ENST00000475668.2 + 35 4300 c.4246G>T c.(4246-4248)Ggc>Tgc p.G1416C MGAM_ENST00000549489.2_Missense_Mutation_p.G1416C O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1416 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GAAGTTTGATGGCATGTGGAT 0.433000 10 24 0.000978159 0.00101729 1 1 0 TTN 7273 broad.mit.edu 37 2 179426672 179426672 + Missense_Mutation SNP G G C TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr2:179426672G>C ENST00000589042.1 - 326 84411 c.84187C>G c.(84187-84189)Cgt>Ggt p.R28063G TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R18998G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R25495G|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R19190G|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R26422G|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R19123G|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26422 Fibronectin type-III 104. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCATCAATACGTATAGGACCT 0.383000 8 32 0 0 1 0 0 MMRN1 22915 broad.mit.edu 37 4 90816530 90816530 + Silent SNP T T C TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr4:90816530T>C ENST00000394980.1 + 2 727 c.408T>C c.(406-408)aaT>aaC p.N136N MMRN1_ENST00000264790.2_Silent_p.N136N|MMRN1_ENST00000394981.1_Silent_p.N102N Q13201 MMRN1_HUMAN multimerin 1 136 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) TCCTTTCCAATTCTACACTGA 0.458000 47 62 0 0 1 0 0 PCDHB11 0 broad.mit.edu 37 5 140579581 140579581 + Missense_Mutation SNP C C G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr5:140579581C>G ENST00000354757.3 + 1 234 c.234C>G c.(232-234)gaC>gaG p.D78E PCDHB11_ENST00000536699.1_Intron NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 78 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCAGCTGGACATAAACACTG 0.512000 38 33 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137308251 137308251 + Missense_Mutation SNP C C A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr7:137308251C>A ENST00000424189.2 - 7 1083 c.854G>T c.(853-855)aGc>aTc p.S285I DGKI_ENST00000446122.1_Missense_Mutation_p.S285I|DGKI_ENST00000453654.1_5'UTR|DGKI_ENST00000288490.5_Missense_Mutation_p.S285I O75912 DGKI_HUMAN diacylglycerol kinase, iota 285 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 CCAGGAACAGCTGATAGCCAC 0.423000 73 99 2.14232e-31 2.59072e-31 1 1 0 BRCA1 672 broad.mit.edu 37 17 41251796 41251796 + Missense_Mutation SNP T T G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr17:41251796T>G ENST00000357654.3 - 7 661 c.543A>C c.(541-543)gaA>gaC p.E181D BRCA1_ENST00000354071.3_Missense_Mutation_p.E181D|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.E181D|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.E134D|BRCA1_ENST00000468300.1_Missense_Mutation_p.E181D|BRCA1_ENST00000491747.2_Missense_Mutation_p.E181D|BRCA1_ENST00000346315.3_Missense_Mutation_p.E181D|BRCA1_ENST00000352993.3_Missense_Mutation_p.E181D|BRCA1_ENST00000351666.3_Missense_Mutation_p.E181D|BRCA1_ENST00000309486.4_5'UTR NM_007294.3 NP_009225.1 P38398 BRCA1_HUMAN breast cancer 1, early onset 181 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) CCTTACCCAATTCAATGTAGA 0.378000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 140 105 0 0 1 0 0 SLC22A17 51310 broad.mit.edu 37 14 23821250 23821250 + Translation_Start_Site SNP C C T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr14:23821250C>T ENST00000397260.3 - 0 625 SLC22A17_ENST00000397267.1_Silent_p.S58S|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000206544.8_Silent_p.S58S|SLC22A17_ENST00000354772.3_Silent_p.S58S Q8WUG5 S22AH_HUMAN solute carrier family 22, member 17 siderophore transport integral to organelle membrane|integral to plasma membrane|vacuolar membrane transmembrane receptor activity|transmembrane transporter activity p.S58S(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00643) AGCCGCTGCACGAGGGGTCGG 0.672000 3 4 0 0 1 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47251781 47251781 + Missense_Mutation SNP T T A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr6:47251781T>A ENST00000296861.2 - 3 1529 c.1136A>T c.(1135-1137)aAg>aTg p.K379M NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 379 cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) CCGGGGCCCCTTTTTCAGAGT 0.512000 48 52 0 0 1 0 0 ITIH1 3697 broad.mit.edu 37 3 52815957 52815957 + Splice_Site SNP G G T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr3:52815957G>T ENST00000273283.2 + 7 713 c.687_splice c.e7-1 p.G230_splice ITIH1_ENST00000540715.1_Splice_Site_p.G88_splice|ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000542827.1_Splice_Site_p.G230_splice|ITIH1_ENST00000487686.1_3'UTR NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 230 hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) CGGTTCCAGGGTCATGTGCTG 0.517000 4 47 1.024e-07 1.14924e-07 1 1 0 WDR31 114987 broad.mit.edu 37 9 116079080 116079080 + Silent SNP G G C TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr9:116079080G>C ENST00000374193.4 - 11 1299 c.1053C>G c.(1051-1053)ctC>ctG p.L351L WDR31_ENST00000341761.4_Silent_p.L350L|WDR31_ENST00000374195.3_Silent_p.L226L|WDR31_ENST00000461942.1_5'UTR NM_001012361.2|NM_145241.3 NP_001012361.1|NP_660284.1 Q8NA23 WDR31_HUMAN WD repeat domain 31 351 NS(1)|large_intestine(1)|lung(2)|prostate(2) 6 GGTCCATTCTGAGTAAGTGAA 0.502000 48 32 0 0 1 0 0 KIAA0368 23392 broad.mit.edu 37 9 114199253 114199253 + Silent SNP A A G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr9:114199253A>G ENST00000259335.4 - 8 1208 c.1209T>C c.(1207-1209)ggT>ggC p.G403G KIAA0368_ENST00000338205.5_Silent_p.G225G NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 ATGGGTTATCACCAATAACTC 0.463000 41 117 0 0 1 0 0 PIGO 84720 broad.mit.edu 37 9 35092294 35092294 + Missense_Mutation SNP C C G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr9:35092294C>G ENST00000378617.3 - 7 1984 c.1590G>C c.(1588-1590)tgG>tgC p.W530C PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.W530C NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 530 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CCCAGCCAGCCCAGGCTTTCC 0.562000 13 15 0 0 1 0 0 VHL 7428 broad.mit.edu 37 3 10188250 10188250 + Missense_Mutation SNP C C G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr3:10188250C>G ENST00000256474.2 + 2 1233 c.393C>G c.(391-393)aaC>aaG p.N131K VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR NM_000551.3 NP_000542.1 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 131 Involved in binding to CCT complex. N -> K (in VHLD; type I).|N -> T (in VHLD; type I). anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.N131fs*27(2)|p.N131K(2)|p.Q132fs*27(1)|p.N131fs*10(1)|p.H125fs*27(1)|p.N131*(1)|p.N131fs*7(1) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) TTCTGGTTAACCAAACTGAAT 0.453000 1 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia 15 138 0 0 1 0 0 GIPR 2696 broad.mit.edu 37 19 46184863 46184863 + Splice_Site SNP G G T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr19:46184863G>T ENST00000590918.1 + 13 1253 c.1152_splice c.e13-1 p.G385_splice GIPR_ENST00000304207.8_Splice_Site_p.G349_splice|GIPR_ENST00000263281.3_Splice_Site_p.G385_splice NM_000164.2 NP_000155.1 P48546 GIPR_HUMAN gastric inhibitory polypeptide receptor 385 generation of precursor metabolites and energy|response to nutrient integral to membrane|plasma membrane endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 12 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199) TCTGGGCAGGGCTTCCTGGTC 0.652000 4 23 3.59834e-05 3.81864e-05 1 1 0 ANK1 286 broad.mit.edu 37 8 41559078 41559078 + Silent SNP C C A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr8:41559078C>A ENST00000396942.1 - 22 2534 c.2451G>T c.(2449-2451)tcG>tcT p.S817S ANK1_ENST00000289734.7_Silent_p.S817S|ANK1_ENST00000347528.4_Silent_p.S817S|ANK1_ENST00000352337.4_Silent_p.S817S|ANK1_ENST00000396945.1_Silent_p.S817S|ANK1_ENST00000265709.8_Silent_p.S850S|ANK1_ENST00000379758.2_Silent_p.S817S P16157 ANK1_HUMAN ankyrin 1, erythrocytic 817 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CTTCATCTTCCGAGACATCCA 0.517000 OREG0018740 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 2 2.4375e-19 2.83768e-19 1 1 0 ANO4 121601 broad.mit.edu 37 12 101493355 101493355 + Splice_Site SNP G G A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr12:101493355G>A ENST00000392979.3 + 21 2262 c.e21-1 ANO4_ENST00000299222.9_Splice_Site|ANO4_ENST00000392977.3_Splice_Site|ANO4_ENST00000550015.1_Splice_Site NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TTTTTGCCCAGGTTAATTCAG 0.328000 HNSCC(74;0.22) 15 30 0 0 1 0 0 YIPF6 286451 broad.mit.edu 37 X 67731784 67731784 + Missense_Mutation SNP A A T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chrX:67731784A>T ENST00000462683.1 + 2 895 c.151A>T c.(151-153)Agc>Tgc p.S51C YIPF6_ENST00000374622.2_Intron|YIPF6_ENST00000470730.1_3'UTR NM_173834.3 NP_776195.2 Q96EC8 YIPF6_HUMAN Yip1 domain family, member 6 51 endoplasmic reticulum|integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1) 7 GGAGTTTGACAGCTCCACATT 0.408000 99 4 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564355 176564355 + Missense_Mutation SNP A A T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr1:176564355A>T ENST00000367662.3 + 3 2779 c.1615A>T c.(1615-1617)Aac>Tac p.N539Y PAPPA2_ENST00000367661.3_Missense_Mutation_p.N539Y NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 539 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGAGGGCCTAAACCCCATTGT 0.542000 14 19 0 0 1 0 0 NPY5R 4889 broad.mit.edu 37 4 164272284 164272284 + Silent SNP A A C TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr4:164272284A>C ENST00000515560.1 + 4 2381 c.859A>C c.(859-861)Aga>Cga p.R287R NPY5R_ENST00000506953.1_Silent_p.R287R|NPY5R_ENST00000338566.3_Silent_p.R287R Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 287 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) AAAACACAGAAGAAGATATAG 0.413000 44 43 0 0 1 0 0 KRT78 196374 broad.mit.edu 37 12 53237983 53237983 + Missense_Mutation SNP G G A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr12:53237983G>A ENST00000359499.4 - 6 622 c.611C>T c.(610-612)tCt>tTt p.S204F KRT78_ENST00000304620.4_Missense_Mutation_p.S314F Q8N1N4 K2C78_HUMAN keratin 78 314 Coil 1B.|Rod. 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 AAGCTGGGCAGACACCTGAAG 0.517000 40 32 0 0 1 0 0 STK36 27148 broad.mit.edu 37 2 219540981 219540981 + Missense_Mutation SNP A A G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr2:219540981A>G ENST00000295709.3 + 6 943 c.664A>G c.(664-666)Acc>Gcc p.T222A STK36_ENST00000392106.2_Missense_Mutation_p.T222A|STK36_ENST00000440309.1_Missense_Mutation_p.T222A|STK36_ENST00000392105.3_Missense_Mutation_p.T222A NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 222 Protein kinase. cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) CTGGCCCTCAACCATCAGTCC 0.448000 20 35 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 24 0 0 1 0 0 KIAA0196 9897 broad.mit.edu 37 8 126049568 126049568 + Missense_Mutation SNP A A T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr8:126049568A>T ENST00000318410.7 - 26 3441 c.3092T>A c.(3091-3093)aTa>aAa p.I1031K KIAA0196_ENST00000517845.1_Missense_Mutation_p.I883K NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 1031 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CTTTGTTGTTATGTATATCTG 0.328000 64 125 0 0 1 0 0 ERLEC1 27248 broad.mit.edu 37 2 54028677 54028677 + Missense_Mutation SNP T T G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr2:54028677T>G ENST00000185150.4 + 7 800 c.669T>G c.(667-669)atT>atG p.I223M ERLEC1_ENST00000378239.5_Missense_Mutation_p.I223M|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000405123.3_Missense_Mutation_p.I223M|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron NM_015701.4 NP_056516.2 Q96DZ1 ERLEC_HUMAN endoplasmic reticulum lectin 1 223 ER-associated protein catabolic process endoplasmic reticulum lumen glycoprotein binding|protein binding endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1) 18 AGCATGAAATTCTTTCAGTAG 0.383000 25 30 0 0 1 0 0 PRTFDC1 56952 broad.mit.edu 37 10 25160954 25160954 + Silent SNP G G A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr10:25160954G>A ENST00000320152.6 - 4 406 c.378C>T c.(376-378)ggC>ggT p.G126G PRTFDC1_ENST00000376378.1_Silent_p.G126G NM_020200.5 NP_064585.1 Q9NRG1 PRDC1_HUMAN phosphoribosyl transferase domain containing 1 126 adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development cytosol hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 9 AAAGATCATCGCCTCCGATTA 0.463000 107 130 0 0 1 0 0 KRTAP21-1 337977 broad.mit.edu 37 21 32127655 32127655 + Silent SNP G G T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr21:32127655G>T ENST00000335093.3 - 1 91 c.42C>A c.(40-42)tcC>tcA p.S14S NM_181619.1 NP_853650.1 Q3LI58 KR211_HUMAN keratin associated protein 21-1 14 intermediate filament breast(1)|endometrium(1)|lung(4)|urinary_tract(1) 7 agccacagccggagccatagc 0.532000 4 114 2.56e-06 2.75421e-06 1 1 0 BOD1L1 259282 broad.mit.edu 37 4 13604756 13604756 + Silent SNP C C T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr4:13604756C>T ENST00000040738.5 - 10 3903 c.3768G>A c.(3766-3768)ttG>ttA p.L1256L NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1256 DNA binding CTGTGTTTTTCAAATTCTTCT 0.393000 14 21 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115997694 115997694 + Missense_Mutation SNP C C T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr4:115997694C>T ENST00000264363.2 - 2 1177 c.499G>A c.(499-501)Gcc>Acc p.A167T NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 167 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TTCTCATTGGCTTTATGAAAA 0.353000 30 32 0 0 1 0 0 FAM71F2 346653 broad.mit.edu 37 7 128312529 128312529 + Silent SNP T T C TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr7:128312529T>C ENST00000480462.1 + 1 184 c.78T>C c.(76-78)ctT>ctC p.L26L FAM71F2_ENST00000477515.1_Silent_p.L26L|FAM71F2_ENST00000378704.3_Silent_p.L26L|FAM71F2_ENST00000460349.1_3'UTR Q6NXP2 F71F2_HUMAN family with sequence similarity 71, member F2 26 NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2) 7 AAAATGGCCTTCTTTGTCAAC 0.498000 OREG0018296 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 7 0 0 1 0 0 PTH2R 5746 broad.mit.edu 37 2 209345821 209345821 + Silent SNP G G A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr2:209345821G>A ENST00000272847.2 + 10 1221 c.1008G>A c.(1006-1008)acG>acA p.T336T PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 336 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) TTCTGAATACGGTTAGAGTTC 0.343000 42 23 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71391322 71391322 + Missense_Mutation SNP C C G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr17:71391322C>G ENST00000392650.3 - 25 3564 c.3564G>C c.(3562-3564)caG>caC p.Q1188H SDK2_ENST00000388726.3_Missense_Mutation_p.Q1188H NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1188 Fibronectin type-III 6. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 CCACCACCGTCTGGCTCCAGG 0.657000 7 18 0 0 1 0 0 ACTR3 10096 broad.mit.edu 37 2 114709088 114709088 + Silent SNP A A T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr2:114709088A>T ENST00000263238.2 + 9 1211 c.891A>T c.(889-891)tcA>tcT p.S297S ACTR3_ENST00000535589.2_Silent_p.S246S|ACTR3_ENST00000536059.1_Silent_p.S235S NM_001277140.1|NM_005721.3 NP_001264069.1|NP_005712.1 P61158 ARP3_HUMAN ARP3 actin-related protein 3 homolog (yeast) 297 cellular component movement|cilium morphogenesis Arp2/3 protein complex actin binding|ATP binding autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2) 15 AACCTATCTCAGAAGTTGTAG 0.303000 17 20 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153902804 153902804 + Missense_Mutation SNP C C G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr1:153902804C>G ENST00000361217.4 - 28 4878 c.4460G>C c.(4459-4461)cGa>cCa p.R1487P NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 1487 NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AAAACATTTTCGGCAGTCAAT 0.547000 18 19 0 0 1 0 0 OR5K2 402135 broad.mit.edu 37 3 98216556 98216556 + Missense_Mutation SNP A A T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr3:98216556A>T ENST00000427338.1 + 1 109 c.32A>T c.(31-33)gAg>gTg p.E11V NM_001004737.1 NP_001004737.1 Q8NHB8 OR5K2_HUMAN olfactory receptor, family 5, subfamily K, member 2 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 ATGAAAAATGAGTTTATCCTC 0.383000 39 38 0 0 1 0 0 UNC13D 201294 broad.mit.edu 37 17 73829083 73829083 + Missense_Mutation SNP T T C TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr17:73829083T>C ENST00000207549.4 - 25 2790 c.2411A>G c.(2410-2412)tAc>tGc p.Y804C UNC13D_ENST00000412096.2_Missense_Mutation_p.Y804C NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 804 MHD2. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) GGTGTTCATGTAGCAAAGCTC 0.647000 Familial Hemophagocytic Lymphohistiocytosis 5 3 0 0 1 0 0 ZNF568 374900 broad.mit.edu 37 19 37488342 37488342 + Missense_Mutation SNP A A T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr19:37488342A>T ENST00000455427.2 + 9 1886 c.1557A>T c.(1555-1557)aaA>aaT p.K519N NM_001204839.1 NP_001191768.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 606 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GACATCAAAAAGTTCACACTG 0.443000 3 4 0 0 1 0 0 MAP7 9053 broad.mit.edu 37 6 136693640 136693640 + Splice_Site SNP G G A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr6:136693640G>A ENST00000354570.3 - 8 1285 c.876_splice c.e8+1 p.A292_splice MAP7_ENST00000432797.2_Splice_Site_p.A146_splice|MAP7_ENST00000454590.1_Splice_Site_p.A314_splice|MAP7_ENST00000544465.1_Splice_Site_p.A277_splice|MAP7_ENST00000438100.2_Splice_Site_p.A277_splice NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4 NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1 Q14244 MAP7_HUMAN microtubule-associated protein 7 292 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) GCTACTCACCGCTGTGCCATG 0.547000 23 9 0 0 1 0 0 NR1D2 9975 broad.mit.edu 37 3 24006646 24006646 + Missense_Mutation SNP C C A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr3:24006646C>A ENST00000312521.4 + 6 1644 c.1325C>A c.(1324-1326)aCt>aAt p.T442N NR1D2_ENST00000492552.1_3'UTR NM_001145425.1|NM_005126.4 NP_001138897.1|NP_005117.3 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 442 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 22 AAGGCTGGGACTTTTGAGGTA 0.363000 7 118 0.27861 0.280408 1 1 0 TRIP13 9319 broad.mit.edu 37 5 914586 914586 + Missense_Mutation SNP A A G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr5:914586A>G ENST00000166345.3 + 11 1383 c.1027A>G c.(1027-1029)Atc>Gtc p.I343V NM_004237.3 NP_004228.1 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 343 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 18 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) CCAGTGTCAGATCATATACCC 0.512000 7 232 0 0 1 0 0 IFITM5 387733 broad.mit.edu 37 11 298630 298630 + Silent SNP C C T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr11:298630C>T ENST00000382614.2 - 2 305 c.270G>A c.(268-270)gcG>gcA p.A90A NM_001025295.1 NP_001020466.1 A6NNB3 IFM5_HUMAN interferon induced transmembrane protein 5 90 multicellular organismal development|regulation of bone mineralization|response to biotic stimulus integral to membrane|plasma membrane lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122) GCGTCCACATCGCGGCCAGGA 0.647000 16 3 0 0 1 0 0 IL16 3603 broad.mit.edu 37 15 81598853 81598853 + Missense_Mutation SNP G G A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr15:81598853G>A ENST00000394660.2 + 18 4129 c.3769G>A c.(3769-3771)Gac>Aac p.D1257N IL16_ENST00000394652.2_Missense_Mutation_p.D557N|RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000302987.4_Missense_Mutation_p.D1258N NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 1258 PDZ 4. immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 CCTACACGGAGACAAGCCTCT 0.577000 40 56 0 0 1 0 0 KANSL1L 151050 broad.mit.edu 37 2 210894539 210894539 + Missense_Mutation SNP C C G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr2:210894539C>G ENST00000281772.9 - 10 2522 c.2259G>C c.(2257-2259)caG>caC p.Q753H KANSL1L_ENST00000418791.1_Missense_Mutation_p.Q711H NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 753 GTGATGAATTCTGGATTCTTG 0.289000 31 84 0 0 1 0 0 ANTXR2 118429 broad.mit.edu 37 4 80954651 80954651 + Nonsense_Mutation SNP G G T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr4:80954651G>T ENST00000403729.2 - 9 1296 c.771C>A c.(769-771)taC>taA p.Y257* ANTXR2_ENST00000295465.4_Nonsense_Mutation_p.Y257*|ANTXR2_ENST00000404191.1_Nonsense_Mutation_p.Y180*|ANTXR2_ENST00000346652.6_Intron|ANTXR2_ENST00000307333.7_Nonsense_Mutation_p.Y257* NM_058172.5 NP_477520.2 P58335 ANTR2_HUMAN anthrax toxin receptor 2 257 endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 13 CATTTACAGTGTAAGTGCAGA 0.378000 Juvenile Hyaline Fibromatosis 16 12 1.00905e-13 1.15744e-13 1 1 0 OBSCN 84033 broad.mit.edu 37 1 228462108 228462108 + Missense_Mutation SNP C C A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr1:228462108C>A ENST00000570156.2 + 23 6845 c.6771C>A c.(6769-6771)agC>agA p.S2257R OBSCN_ENST00000359599.6_Missense_Mutation_p.S729R|OBSCN_ENST00000284548.11_Missense_Mutation_p.S1882R|OBSCN_ENST00000422127.1_Missense_Mutation_p.S1882R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1240 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TGTGTGAGAGCCGTGATGACC 0.647000 17 33 3.70931e-20 4.35078e-20 1 1 0 GPR87 0 broad.mit.edu 37 3 151012739 151012739 + Missense_Mutation SNP C C G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr3:151012739C>G ENST00000260843.4 - 3 759 c.295G>C c.(295-297)Gtc>Ctc p.V99L MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron NM_023915.3 NP_076404.3 Q9BY21 GPR87_HUMAN G protein-coupled receptor 87 99 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 19 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCATCATGGACTATTCGAAAT 0.373000 9 45 0 0 1 0 0 BTBD16 118663 broad.mit.edu 37 10 124050674 124050674 + Silent SNP C C G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr10:124050674C>G ENST00000368994.2 + 7 809 c.558C>G c.(556-558)tcC>tcG p.S186S BTBD16_ENST00000260723.4_Silent_p.S185S Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 185 BTB. breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) TGCTGGCTTCCGCCCACATCC 0.582000 39 37 0 0 1 0 0 RASGEF1B 153020 broad.mit.edu 37 4 82355073 82355073 + Missense_Mutation SNP C C G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr4:82355073C>G ENST00000509081.1 - 12 1463 c.1242G>C c.(1240-1242)tgG>tgC p.W414C RASGEF1B_ENST00000264400.2_Missense_Mutation_p.W415C|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.W373C Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 415 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 26 CCACTTGTTTCCATGTCATAA 0.378000 11 202 0 0 1 0 0 SSRP1 6749 broad.mit.edu 37 11 57095829 57095829 + Missense_Mutation SNP T T C TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr11:57095829T>C ENST00000278412.2 - 13 1819 c.1553A>G c.(1552-1554)aAa>aGa p.K518R NM_003146.2 NP_003137.1 Q08945 SSRP1_HUMAN structure specific recognition protein 1 518 Arg/Lys-rich (basic). DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4) 23 TTTGAGCTGTTTCCGCTTCTT 0.567000 5 60 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103442111 103442111 + Missense_Mutation SNP C C A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr14:103442111C>A ENST00000361246.2 - 11 1705 c.1417G>T c.(1417-1419)Ggc>Tgc p.G473C NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 473 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CGAGATGAGCCGTGGAGGGAC 0.557000 10 153 0.000442599 0.000463393 1 1 0 CDH12 1010 broad.mit.edu 37 5 21752123 21752123 + Missense_Mutation SNP T T C TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr5:21752123T>C ENST00000382254.1 - 15 3194 c.2108A>G c.(2107-2109)cAg>cGg p.Q703R CDH12_ENST00000522262.1_Missense_Mutation_p.Q663R|CDH12_ENST00000504376.2_Missense_Mutation_p.Q703R|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 703 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 GGGTGGTCTCTGACGAGGTAA 0.458000 HNSCC(59;0.17) 4 114 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121490558 121490558 + Missense_Mutation SNP G G A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr11:121490558G>A ENST00000260197.7 + 43 5950 c.5821G>A c.(5821-5823)Gtt>Att p.V1941I SORL1_ENST00000532694.1_Missense_Mutation_p.V787I|SORL1_ENST00000534286.1_Missense_Mutation_p.V851I|SORL1_ENST00000527934.1_Missense_Mutation_p.V556I|SORL1_ENST00000525532.1_Missense_Mutation_p.V885I NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1941 Fibronectin type-III 5. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CCTGCATGTGGTTCATACGGG 0.557000 22 55 0 0 1 0 0 IGKV1-6 0 broad.mit.edu 37 2 89265996 89265996 + RNA SNP G G A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr2:89265996G>A ENST00000464162.1 - 0 164 TGACTTGCCCGGCAAGTGATG 0.498000 60 80 0 0 1 0 0 ARSB 411 broad.mit.edu 37 5 78251233 78251233 + Missense_Mutation SNP C C G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr5:78251233C>G ENST00000264914.4 - 4 1319 c.783G>C c.(781-783)aaG>aaC p.K261N ARSB_ENST00000565165.1_Missense_Mutation_p.K261N|ARSB_ENST00000396151.3_Missense_Mutation_p.K261N NM_000046.3 NP_000037.2 P15848 ARSB_HUMAN arylsulfatase B 261 lysosomal transport|lysosome organization lysosome arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34) GATGCCTGTTCTTGTCTTGGA 0.478000 14 3 0 0 1 0 0 MAP7D3 79649 broad.mit.edu 37 X 135309468 135309468 + Missense_Mutation SNP T T A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chrX:135309468T>A ENST00000316077.9 - 12 2229 c.2009A>T c.(2008-2010)cAg>cTg p.Q670L MAP7D3_ENST00000370663.5_Missense_Mutation_p.Q652L|MAP7D3_ENST00000495432.1_5'UTR|MAP7D3_ENST00000370661.1_Missense_Mutation_p.Q635L NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 670 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) CTGGTCTTCCTGATCCAGCCA 0.448000 28 38 0 0 1 0 0 AP4E1 23431 broad.mit.edu 37 15 51221310 51221310 + Missense_Mutation SNP A A C TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr15:51221310A>C ENST00000261842.5 + 6 753 c.647A>C c.(646-648)gAc>gCc p.D216A AP4E1_ENST00000560508.1_Missense_Mutation_p.D141A NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 216 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) GCACTTTGTGACAGAGATGTT 0.353000 12 81 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173556924 173556924 + Missense_Mutation SNP T T A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr1:173556924T>A ENST00000367714.3 - 5 825 c.403A>T c.(403-405)Att>Ttt p.I135F SLC9C2_ENST00000536496.1_Missense_Mutation_p.I33F|RP3-436N22.3_ENST00000431459.1_RNA NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 135 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ACATATCCAATTATGATGCTT 0.348000 8 115 0 0 1 0 0 SLC7A14 57709 broad.mit.edu 37 3 170218900 170218900 + Missense_Mutation SNP A A C TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr3:170218900A>C ENST00000231706.4 - 3 854 c.539T>G c.(538-540)cTg>cGg p.L180R CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 180 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) AGTCTCACCCAGGCCATTGAG 0.517000 18 32 0 0 1 0 0 ALDH1B1 219 broad.mit.edu 37 9 38396792 38396792 + Silent SNP G G A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr9:38396792G>A ENST00000377698.3 + 2 1200 c.1047G>A c.(1045-1047)ggG>ggA p.G349G NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 349 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) GGAAAGTGGGGAACCCCTTTG 0.567000 14 17 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153130077 153130077 + Missense_Mutation SNP G G C TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chrX:153130077G>C ENST00000370060.1 - 24 3318 c.3129C>G c.(3127-3129)tgC>tgG p.C1043W L1CAM_ENST00000361699.4_Missense_Mutation_p.C1043W|L1CAM_ENST00000543994.1_Missense_Mutation_p.C1045W|L1CAM_ENST00000538883.1_Missense_Mutation_p.C1045W|L1CAM_ENST00000370055.1_Missense_Mutation_p.C1038W|L1CAM_ENST00000370057.3_Missense_Mutation_p.C1043W|L1CAM_ENST00000361981.3_Missense_Mutation_p.C1038W NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 1043 Fibronectin type-III 5. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ACCTGAAGTTGCACTGGCCCT 0.597000 48 65 0 0 1 0 0 INSIG2 51141 broad.mit.edu 37 2 118864346 118864346 + Missense_Mutation SNP C C G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr2:118864346C>G ENST00000245787.4 + 4 609 c.403C>G c.(403-405)Ctc>Gtc p.L135V INSIG2_ENST00000485520.1_3'UTR NM_016133.2 NP_057217.2 Q9Y5U4 INSI2_HUMAN insulin induced gene 2 135 ER-nuclear sterol response pathway SREBP-SCAP-Insig complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 ACAGTTGTCTCTCACACTGGC 0.388000 17 34 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113960064 113960064 + Missense_Mutation SNP T T A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr8:113960064T>A ENST00000297405.5 - 9 1707 c.1463A>T c.(1462-1464)gAt>gTt p.D488V CSMD3_ENST00000352409.3_Missense_Mutation_p.D488V|CSMD3_ENST00000455883.2_Missense_Mutation_p.D384V|CSMD3_ENST00000343508.3_Missense_Mutation_p.D448V NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 488 Sushi 2. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTCTCCTGGATCTGGGCATAA 0.303000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 32 81 0 0 1 0 0 MYOZ1 58529 broad.mit.edu 37 10 75391917 75391917 + Missense_Mutation SNP G G A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr10:75391917G>A ENST00000359322.4 - 6 1035 c.671C>T c.(670-672)aCg>aTg p.T224M NM_021245.3 NP_067068.1 Q9NP98 MYOZ1_HUMAN myozenin 1 224 myofibril assembly nucleus|pseudopodium FATZ binding central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2) 12 Prostate(51;0.0112) GGGCATTGCCGTCCTGAGAAG 0.473000 3 20 0 0 1 0 0 PTPN9 5780 broad.mit.edu 37 15 75819591 75819591 + Silent SNP C C T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr15:75819591C>T ENST00000306726.2 - 2 587 c.75G>A c.(73-75)caG>caA p.Q25Q CTD-2323K18.1_ENST00000568707.1_RNA NM_002833.2 NP_002824.1 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 9 25 cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTTCGAGAAACTGCTTGGTAG 0.393000 22 26 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98146717 98146717 + Missense_Mutation SNP C C T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr10:98146717C>T ENST00000357947.3 - 14 2070 c.1845G>A c.(1843-1845)atG>atA p.M615I NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 615 EGF-like 1; calcium-binding (Potential). cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) AACCTTCACACATCTTCTTAT 0.587000 35 3 0 0 1 0 0 KCNC1 3746 broad.mit.edu 37 11 17793359 17793359 + Nonsense_Mutation SNP G G T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr11:17793359G>T ENST00000379472.3 + 2 748 c.718G>T c.(718-720)Gag>Tag p.E240* KCNC1_ENST00000265969.6_Nonsense_Mutation_p.E240* NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 240 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 CCGGGAGGCCGAGACGGAGGC 0.572000 46 9 1.23103e-26 1.46596e-26 1 1 0 PIK3R2 5296 broad.mit.edu 37 19 18273222 18273222 + Nonsense_Mutation SNP G G T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr19:18273222G>T ENST00000593731.1 + 9 1575 c.1015G>T c.(1015-1017)Gag>Tag p.E339* PIK3R2_ENST00000222254.7_Nonsense_Mutation_p.E339* O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 (beta) 339 SH2 1. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1) 24 CCACAGGGAGGAGGTGAACGA 0.617000 13 19 0.000151284 0.000159462 1 1 0 FMO2 2327 broad.mit.edu 37 1 171173103 171173103 + Missense_Mutation SNP C C T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr1:171173103C>T ENST00000441535.1 + 6 844 c.727C>T c.(727-729)Ctc>Ttc p.L243F RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445909.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.L243F|RP1-127D3.4_ENST00000422841.1_RNA NM_001460.2 NP_001451.1 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 (non-functional) 243 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TCGTTCTATGCTCCGCAATGT 0.473000 30 31 0 0 1 0 0 TUBG1 7283 broad.mit.edu 37 17 40765903 40765903 + Missense_Mutation SNP C C T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr17:40765903C>T ENST00000251413.3 + 8 792 c.730C>T c.(730-732)Cgc>Tgc p.R244C NM_001070.4 NP_001061.2 P23258 TBG1_HUMAN tubulin, gamma 1 244 G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.129) CACCACCCTGCGCTACCCTGG 0.612000 3 25 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7812334 7812334 + Translation_Start_Site SNP G G A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr19:7812334G>A ENST00000593660.1 - 0 63 CD209_ENST00000602261.1_Intron|CD209_ENST00000354397.6_Intron|CD209_ENST00000315591.8_Intron|CD209_ENST00000601951.1_De_novo_Start_OutOfFrame|CD209_ENST00000315599.7_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000204801.8_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000601256.1_De_novo_Start_OutOfFrame|CD209_ENST00000301357.8_Intron Q9NNX6 CD209_HUMAN CD209 molecule cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GAATCCCAGCGTCCCAACCCA 0.607000 87 78 0 0 1 0 0 PLEKHS1 79949 broad.mit.edu 37 10 115535574 115535574 + Missense_Mutation SNP C C A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr10:115535574C>A ENST00000354462.3 + 4 388 c.230C>A c.(229-231)cCt>cAt p.P77H PLEKHS1_ENST00000369309.1_Missense_Mutation_p.P161H|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.P347H|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.P245H|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.P327H pleckstrin homology domain containing, family S member 1 TTCCTTTCTCCTCCTGATGTC 0.438000 40 48 8.72198e-27 1.04664e-26 1 1 0 THSD1 55901 broad.mit.edu 37 13 52952163 52952163 + Missense_Mutation SNP C C T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr13:52952163C>T ENST00000349258.4 - 4 2327 c.1783G>A c.(1783-1785)Gcc>Acc p.A595T THSD1_ENST00000258613.4_Missense_Mutation_p.A648T|THSD1_ENST00000544466.1_Missense_Mutation_p.A269T NM_199263.2 NP_954872.1 Q9NS62 THSD1_HUMAN thrombospondin, type I, domain containing 1 648 extracellular region|integral to membrane|intracellular membrane-bounded organelle p.A648T(1) breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) CTGAAATGGGCGTTCCTGGCA 0.632000 20 14 0 0 1 0 0 KPNA4 3840 broad.mit.edu 37 3 160243734 160243734 + Missense_Mutation SNP T T C TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr3:160243734T>C ENST00000334256.4 - 9 1023 c.718A>G c.(718-720)Att>Gtt p.I240V NM_002268.4 NP_002259.1 O00629 IMA4_HUMAN karyopherin alpha 4 (importin alpha 3) 240 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2) 22 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) ACCTCCTGAATGGTTTCCATT 0.303000 47 40 0 0 1 0 0 MET 0 broad.mit.edu 37 7 116409761 116409761 + Missense_Mutation SNP T T G TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr7:116409761T>G ENST00000397752.3 + 12 2846 c.2646T>G c.(2644-2646)tgT>tgG p.C882W MET_ENST00000318493.6_Missense_Mutation_p.C900W NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 882 axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) ATAAGAGCTGTGAGAATATAC 0.378000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 29 20 0 0 1 0 0 SF3B3 23450 broad.mit.edu 37 16 70589037 70589037 + Silent SNP G G A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr16:70589037G>A ENST00000302516.5 + 13 1849 c.1638G>A c.(1636-1638)aaG>aaA p.K546K NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 546 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) CAATTGTGAAGTGTGCAGTGA 0.463000 67 49 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28437220 28437220 + Missense_Mutation SNP C C A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr15:28437220C>A ENST00000261609.7 - 53 8446 c.8338G>T c.(8338-8340)Gac>Tac p.D2780Y NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2780 DOC. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GACCAGCTGTCCAGCAGCATG 0.567000 OREG0022997 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 60 81 4.09166e-32 5.02598e-32 1 1 0 TUBA4B 0 broad.mit.edu 37 2 220136477 220136480 + RNA DEL TGTG TGTG - TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr2:220136477_220136480delTGTG ENST00000490341.1 + 0 947_950 NR_003063.1 ACCATGGAGATGTGGTGCCCAAGG 0.529 9 47 --- --- --- --- FCHO2 115548 broad.mit.edu 37 5 72354260 72354260 + Splice_Site DEL A A - TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr5:72354260delA ENST00000430046.2 + 17 1370 c.1253_splice c.e17-1 p.E418_splice FCHO2_ENST00000512348.1_Splice_Site_p.E385_splice|FCHO2_ENST00000341845.6_Splice_Site_p.E418_splice NM_001146032.1|NM_138782.2 NP_001139504.1|NP_620137.2 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 418 cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 17 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) ATTATGGTAGAAAAGGAACCA 0.289 2 4 --- --- --- --- SOX30 11063 broad.mit.edu 37 5 157078950 157078950 + Frame_Shift_Del DEL G G - TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr5:157078950delG ENST00000265007.6 - 1 478 c.137delC c.(136-138)gafs p.A47fs SOX30_ENST00000311371.5_Frame_Shift_Del_p.A47fs|SOX30_ENST00000519442.1_Intron NM_178424.1 NP_848511.1 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 47 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CGCACTGGCTGCCGCGCTCAG 0.721 2 4 --- --- --- --- RNF8 9025 broad.mit.edu 37 6 37336452 37336453 + Frame_Shift_Ins INS - - A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr6:37336452_37336453insA ENST00000373479.4 + 3 626_627 c.433_434insA c.(433-435)aaafs p.K145fs RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Frame_Shift_Ins_p.K145fs NM_003958.3|NM_183078.2 NP_003949.1|NP_898901.1 O76064 RNF8_HUMAN ring finger protein 8, E3 ubiquitin protein ligase 145 cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 13 CCAAATGATAGAAAAAAATAAG 0.351 25 26 --- --- --- --- TBC1D31 93594 broad.mit.edu 37 8 124140520 124140521 + Splice_Site INS - - T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr8:124140520_124140521insT ENST00000287380.1 + 14 1974_1975 c.e14-1 TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000309336.3_Splice_Site NM_145647.3 NP_663622.2 TBC1 domain family, member 31 TTTTCTTACAGTTTTTTTTTCA 0.322 7 91 --- --- --- --- KRT85 3891 broad.mit.edu 37 12 52757020 52757031 + Splice_Site DEL TGCCACTCACCT TGCCACTCACCT - TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr12:52757020_52757031delTGCCACTCACCT ENST00000257901.3 - 5 1025_1027 c.951_splice c.e5+1 p.M317_splice KRT85_ENST00000544265.1_Splice_Site_p.M105_splice NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 317 Coil 2.|Rod. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) AGGTGTCCTGTGCCACTCACCTTGCTACGGTA 0.547 8 21 --- --- --- --- HMGN2P46 0 broad.mit.edu 37 15 45848231 45848231 + RNA DEL T T - TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chr15:45848231delT ENST00000409454.1 + 0 1226 TTTGTTTAGCTTTTTTTTTTT 0.323 4 8 --- --- --- --- F8 2157 broad.mit.edu 37 X 154157686 154157686 + Frame_Shift_Del DEL T T - TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx dffce40a-683f-46ab-9b42-d6d7b8ab9692 91fc452e-167f-4e2d-968d-2bf477a75cdd g.chrX:154157686delT ENST00000360256.4 - 14 4579 c.4379delA c.(4378-4380)atfs p.N1461fs NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1461 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding p.N1460fs*5(2)|p.N1460fs*2(2) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AGAAAGGTTATTTTTTTTGGC 0.413 8 133 --- --- --- ---