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 MAGEA5 4104 broad.mit.edu 37 X 151283859 151283859 + RNA SNP C C A TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chrX:151283859C>A ENST00000509345.2 - 0 477 GCAGGCACCTCCCCCAGGGTG 0.622000 17 47 3.41278e-10 3.96197e-10 1 1 0 CAMTA1 23261 broad.mit.edu 37 1 7724554 7724554 + Silent SNP G G A TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr1:7724554G>A ENST00000303635.7 + 9 2154 c.1947G>A c.(1945-1947)acG>acA p.T649T CAMTA1_ENST00000439411.2_Silent_p.T649T NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 649 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CGGTGAAAACGGAGGCCTCGT 0.627000 T WWTR1 epitheliod hemangioendothelioma 56 304 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230632383 230632383 + Missense_Mutation SNP C C G TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr2:230632383C>G ENST00000283943.5 - 41 6044 c.5866G>C c.(5866-5868)Gta>Cta p.V1956L TRIP12_ENST00000389044.4_Missense_Mutation_p.V2004L|TRIP12_ENST00000389045.3_Missense_Mutation_p.V1686L NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1956 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) CAAGTCATTACAGAGGGCAAG 0.413000 26 76 0 0 1 0 0 PARVB 29780 broad.mit.edu 37 22 44527492 44527492 + Missense_Mutation SNP C C T rs144931273 TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr22:44527492C>T ENST00000338758.6 + 5 565 c.502C>T c.(502-504)Cgg>Tgg p.R168W PARVB_ENST00000406477.3_Missense_Mutation_p.R201W|PARVB_ENST00000404989.1_Missense_Mutation_p.R131W NM_013327.4 NP_037459.2 Q9HBI1 PARVB_HUMAN parvin, beta 168 CH 1. cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Ovarian(80;0.0246)|all_neural(38;0.0423) CTGGGCGCTCCGGTGGAGCGT 0.602000 5 31 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94376929 94376929 + Missense_Mutation SNP G G T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr4:94376929G>T ENST00000282020.4 + 11 1920 c.1662G>T c.(1660-1662)aaG>aaT p.K554N GRID2_ENST00000510992.1_Missense_Mutation_p.K459N NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 554 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GGGCTGAAAAGACAGTGGATA 0.473000 7 102 0.000157383 0.000167323 1 1 0 MARC1 64757 broad.mit.edu 37 1 220986672 220986672 + Missense_Mutation SNP G G C TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr1:220986672G>C ENST00000366910.5 + 7 1112 c.926G>C c.(925-927)gGa>gCa p.G309A MARC1_ENST00000496110.1_3'UTR NM_022746.3 NP_073583.3 Q5VT66 MOSC1_HUMAN mitochondrial amidoxime reducing component 1 309 MOSC. molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding AAGTTATATGGAAAATCACCA 0.488000 35 178 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129903554 129903554 + Missense_Mutation SNP G G C TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr10:129903554G>C ENST00000368654.3 - 13 6925 c.6550C>G c.(6550-6552)Cct>Gct p.P2184A MKI67_ENST00000368653.3_Missense_Mutation_p.P1824A NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2184 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TTTCCCTTAGGAGTTCTTGGC 0.488000 40 181 0 0 1 0 0 HIST1H2BK 85236 broad.mit.edu 37 6 27114533 27114533 + Silent SNP C C A TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr6:27114533C>A ENST00000396891.4 - 1 86 c.45G>T c.(43-45)tcG>tcT p.S15S HIST1H2BK_ENST00000356950.1_Silent_p.S15S NM_080593.2 NP_542160.1 O60814 H2B1K_HUMAN histone cluster 1, H2bk 15 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 CGGCTTTCTTCGAGCCCTTCT 0.577000 33 179 1.08312e-15 1.27204e-15 1 1 0 WDR13 64743 broad.mit.edu 37 X 48457207 48457207 + Silent SNP A A C TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chrX:48457207A>C ENST00000218056.5 + 2 649 c.144A>C c.(142-144)ccA>ccC p.P48P WDR13_ENST00000492715.1_3'UTR NM_001166426.1|NM_017883.4 NP_001159898.1|NP_060353.2 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 48 cytoplasm|nucleus endometrium(1)|large_intestine(4)|lung(4)|ovary(2) 11 GGCACCCCCCAGCGCTGCGTC 0.662000 4 13 0 0 1 0 0 DEPTOR 64798 broad.mit.edu 37 8 121015325 121015325 + Silent SNP C C T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr8:121015325C>T ENST00000286234.5 + 6 1030 c.900C>T c.(898-900)ccC>ccT p.P300P DEPTOR_ENST00000518057.1_3'UTR|DEPTOR_ENST00000523492.1_Silent_p.P199P NM_022783.2 NP_073620.2 Q8TB45 DPTOR_HUMAN DEP domain containing MTOR-interacting protein 300 intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis intracellular protein binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 18 gcagcagcCCCCCTGTGCTCT 0.612000 4 76 0 0 1 0 0 ZNF135 7694 broad.mit.edu 37 19 58578599 58578599 + Silent SNP A A G TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr19:58578599A>G ENST00000506786.1 + 5 1175 c.621A>G c.(619-621)aaA>aaG p.K207K ZNF135_ENST00000313434.5_Silent_p.K249K|ZNF135_ENST00000439855.2_Silent_p.K249K|ZNF135_ENST00000401053.4_Silent_p.K273K|ZNF135_ENST00000359978.6_Silent_p.K261K|ZNF135_ENST00000511556.1_Silent_p.K261K B4DHH9 B4DHH9_HUMAN zinc finger protein 135 261 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) AATGCTTAAAAGGCTTCCGGA 0.498000 4 221 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505842 195505842 + Silent SNP T T G TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr3:195505842T>G ENST00000463781.3 - 2 13068 c.12609A>C c.(12607-12609)acA>acC p.T4203T MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T4203T NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 966 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGGCGTGACCTGTGGATGCTG 0.597000 3 8 0 0 1 0 0 ANKS1A 23294 broad.mit.edu 37 6 35053632 35053632 + Silent SNP G G A TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr6:35053632G>A ENST00000360359.3 + 22 3360 c.3222G>A c.(3220-3222)acG>acA p.T1074T ANKS1A_ENST00000535627.1_Intron NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 1074 PID. cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 CCAGGGCGACGGGCGCCTCTG 0.607000 17 47 0 0 1 0 0 CARD10 29775 broad.mit.edu 37 22 37891880 37891880 + Silent SNP C C T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr22:37891880C>T ENST00000403299.1 - 15 2406 c.2190G>A c.(2188-2190)gaG>gaA p.E730E CARD10_ENST00000251973.5_Silent_p.E730E|CARD10_ENST00000406271.3_Silent_p.E444E Q9BWT7 CAR10_HUMAN caspase recruitment domain family, member 10 730 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) GTCGAAGGATCTCTTGGGCTT 0.627000 6 72 0 0 1 0 0 ANKIB1 54467 broad.mit.edu 37 7 92027950 92027950 + Missense_Mutation SNP C C T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr7:92027950C>T ENST00000265742.3 + 20 3333 c.2957C>T c.(2956-2958)gCc>gTc p.A986V NM_019004.1 NP_061877.1 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 986 protein binding|zinc ion binding cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CAGAGTATTGCCCTGATTCCT 0.498000 22 110 0 0 1 0 0 BAIAP3 8938 broad.mit.edu 37 16 1388958 1388958 + Missense_Mutation SNP G G T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr16:1388958G>T ENST00000324385.5 + 3 450 c.292G>T c.(292-294)Ggg>Tgg p.G98W BAIAP3_ENST00000568887.1_Missense_Mutation_p.G63W|BAIAP3_ENST00000397489.1_Missense_Mutation_p.G63W|BAIAP3_ENST00000421665.2_Missense_Mutation_p.G63W|BAIAP3_ENST00000426824.3_Missense_Mutation_p.G63W|BAIAP3_ENST00000397488.2_Missense_Mutation_p.G63W|BAIAP3_ENST00000562208.1_Missense_Mutation_p.G63W NM_003933.4 NP_003924.2 O94812 BAIP3_HUMAN BAI1-associated protein 3 98 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) GCTGAAGAAGGGGGAAGGCAG 0.657000 22 171 1.22574e-08 1.39101e-08 1 1 0 INO80D 54891 broad.mit.edu 37 2 206882489 206882489 + Missense_Mutation SNP T T C TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr2:206882489T>C ENST00000403263.1 - 8 1861 c.1457A>G c.(1456-1458)aAg>aGg p.K486R NM_017759.4 NP_060229.3 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 486 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 ATCTGCAAACTTGGCTGTGCA 0.398000 8 27 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43268418 43268418 + Missense_Mutation SNP A A T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr19:43268418A>T ENST00000404209.4 - 2 176 c.80T>A c.(79-81)tTc>tAc p.F27Y PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.F27Y|PSG8_ENST00000306511.4_Missense_Mutation_p.F27Y NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 27 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) TGGGTTCCAGAAGTTTAAAAG 0.488000 34 163 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75981297 75981297 + Silent SNP G G A TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr15:75981297G>A ENST00000308508.5 - 3 2201 c.2109C>T c.(2107-2109)gtC>gtT p.V703V NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 703 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GGGCCCCAGTGACGCGGAACA 0.667000 5 178 0 0 1 0 0 ISM1 140862 broad.mit.edu 37 20 13260439 13260439 + Silent SNP G G A TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr20:13260439G>A ENST00000262487.3 + 3 543 c.537G>A c.(535-537)aaG>aaA p.K179K TASP1_ENST00000539805.1_Intron NM_080826.1 NP_543016.1 B1AKI9 ISM1_HUMAN isthmin 1, angiogenesis inhibitor 179 extracellular region NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1) 17 AGGACTACAAGTACGACAGTA 0.612000 23 90 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229647 140229647 + Silent SNP T T C TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr5:140229647T>C ENST00000378122.3 + 1 2291 c.1567T>C c.(1567-1569)Ttg>Ctg p.L523L PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.L523L|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGCAGCCGTTGGACCACGA 0.682000 6 350 0 0 1 0 0 B3GNT3 10331 broad.mit.edu 37 19 17918691 17918691 + Silent SNP C C T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr19:17918691C>T ENST00000318683.6 + 2 222 c.75C>T c.(73-75)ttC>ttT p.F25F B3GNT3_ENST00000595387.1_Silent_p.F25F NM_014256.3 NP_055071.2 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 25 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 TCCTCCTCTTCAGTCTGCTAG 0.687000 12 62 0 0 1 0 0 SCUBE3 222663 broad.mit.edu 37 6 35213155 35213155 + Missense_Mutation SNP T T C TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr6:35213155T>C ENST00000274938.7 + 19 2552 c.2552T>C c.(2551-2553)cTg>cCg p.L851P SCUBE3_ENST00000394681.1_Missense_Mutation_p.L867P NM_152753.2 NP_689966.2 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 851 CUB. protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 37 GAGATCTTCCTGCCATCTGAG 0.567000 8 72 0 0 1 0 0 LOC645166 645166 broad.mit.edu 37 1 148932911 148932911 + RNA SNP G G A rs2531445 by1000genomes TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr1:148932911G>A ENST00000539543.1 + 0 167 NR_027355.1 CCAAGACTCCGTCCTGCAAGG 0.612000 11 262 0 0 1 0 0 CCDC171 203238 broad.mit.edu 37 9 15784679 15784679 + Missense_Mutation SNP G G C TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr9:15784679G>C ENST00000380701.3 + 21 3582 c.3254G>C c.(3253-3255)gGa>gCa p.G1085A CCDC171_ENST00000297641.3_Missense_Mutation_p.G1085A NM_173550.2 NP_775821.2 Q6TFL3 CI093_HUMAN coiled-coil domain containing 171 1085 CAAACTCTTGGAGAAGCTGTT 0.358000 12 49 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr16:90162513T>C ENST00000564451.1 + 0 1866 TUBB8P7_ENST00000567960.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 4 107 0 0 1 0 0 GFM1 85476 broad.mit.edu 37 3 158363534 158363534 + Silent SNP C C T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr3:158363534C>T ENST00000486715.1 + 2 555 c.198C>T c.(196-198)gtC>gtT p.V66V GFM1_ENST00000478576.1_Silent_p.V66V|GFM1_ENST00000264263.5_Silent_p.V66V NM_024996.5 NP_079272.4 Q96RP9 EFGM_HUMAN G elongation factor, mitochondrial 1 66 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2) 22 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) CAGAACGAGTCCTTTACTACA 0.363000 7 104 0 0 1 0 0 YY1AP1 55249 broad.mit.edu 37 1 155630074 155630074 + Nonsense_Mutation SNP T T A TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr1:155630074T>A ENST00000368340.5 - 10 2089 c.1981A>T c.(1981-1983)Aaa>Taa p.K661* YY1AP1_ENST00000535662.1_Nonsense_Mutation_p.K389*|YY1AP1_ENST00000407221.1_Nonsense_Mutation_p.K512*|YY1AP1_ENST00000295566.4_Nonsense_Mutation_p.K589*|YY1AP1_ENST00000368339.5_Nonsense_Mutation_p.K681*|YY1AP1_ENST00000368330.2_Nonsense_Mutation_p.K543*|YY1AP1_ENST00000347088.5_Nonsense_Mutation_p.K543*|YY1AP1_ENST00000361831.5_Nonsense_Mutation_p.K532*|YY1AP1_ENST00000355499.4_Nonsense_Mutation_p.K543*|YY1AP1_ENST00000311573.5_Nonsense_Mutation_p.K512*|YY1AP1_ENST00000359205.5_Nonsense_Mutation_p.K532*|YY1AP1_ENST00000404643.1_Nonsense_Mutation_p.K523*|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron NM_001198904.1 NP_001185833.1 YY1 associated protein 1 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2) 31 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) GGGGCAGGTTTGATACAGCGA 0.522000 11 171 0 0 1 0 0 BHLHE41 79365 broad.mit.edu 37 12 26276085 26276085 + Silent SNP T T C TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr12:26276085T>C ENST00000242728.4 - 5 710 c.363A>G c.(361-363)aaA>aaG p.K121K NM_030762.2 NP_110389.1 Q9C0J9 BHE41_HUMAN basic helix-loop-helix family, member e41 121 cell differentiation|cell proliferation|organ morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1) 5 GAATGGGCGATTTCAGAGATC 0.527000 OREG0021711 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 22 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65365202 65365202 + Missense_Mutation SNP G G A TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr3:65365202G>A ENST00000330909.8 - 18 2812 c.2813C>T c.(2812-2814)tCg>tTg p.S938L MAGI1_ENST00000483466.1_Missense_Mutation_p.S938L|MAGI1_ENST00000497477.2_Missense_Mutation_p.S910L|MAGI1_ENST00000402939.2_Missense_Mutation_p.S910L NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 938 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GGAGGCTGGCGAGGGCACCTC 0.627000 38 153 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122423459 122423459 + Missense_Mutation SNP G G A TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr3:122423459G>A ENST00000474629.2 + 8 3670 c.3404G>A c.(3403-3405)gGa>gAa p.G1135E NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1135 Macro 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) ATAGGAACAGGAAACTTGGGA 0.358000 4 15 0 0 1 0 0 ENG 2022 broad.mit.edu 37 9 130605480 130605480 + Missense_Mutation SNP C C T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr9:130605480C>T ENST00000344849.3 - 2 392 c.112G>A c.(112-114)Gag>Aag p.E38K ENG_ENST00000373203.4_Missense_Mutation_p.E38K P17813 EGLN_HUMAN endoglin 38 artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 17 TCGCCCCTCTCGGGGCCCACA 0.547000 Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia 22 127 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164725727 164725727 + Silent SNP G G A rs138374817 TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr3:164725727G>A ENST00000264382.3 - 36 4301 c.4239C>T c.(4237-4239)gaC>gaT p.D1413D NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1413 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) AATTTAGTTCGTCATTTCTGC 0.259000 HNSCC(35;0.089) 17 57 0 0 1 0 0 CRTC1 23373 broad.mit.edu 37 19 18856686 18856686 + Silent SNP G G T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr19:18856686G>T ENST00000338797.6 + 4 370 c.345G>T c.(343-345)ggG>ggT p.G115G CRTC1_ENST00000321949.8_Silent_p.G99G|CRTC1_ENST00000601916.1_Silent_p.G24G|CRTC1_ENST00000594658.1_Silent_p.G58G NM_001098482.1 NP_001091952.1 Q6UUV9 CRTC1_HUMAN CREB regulated transcription coactivator 1 99 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 19 GGCACCATGGGCTGGTGGACA 0.632000 9 142 9.70103e-10 1.11341e-09 1 1 0 KLHDC7A 127707 broad.mit.edu 37 1 18809727 18809727 + Missense_Mutation SNP G G A TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr1:18809727G>A ENST00000400664.1 + 1 2304 c.2252G>A c.(2251-2253)cGg>cAg p.R751Q NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 751 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) AAGGAGCTGCGGAGTTTCCCG 0.642000 25 122 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505851 195505851 + Silent SNP T T C TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr3:195505851T>C ENST00000463781.3 - 2 13059 c.12600A>G c.(12598-12600)tcA>tcG p.S4200S MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.S4200S NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 963 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CTGTGGATGCTGAGGAAGTGT 0.592000 3 5 0 0 1 0 0 VPS37A 137492 broad.mit.edu 37 8 17133958 17133958 + Missense_Mutation SNP C C G TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr8:17133958C>G ENST00000324849.4 + 6 1369 c.695C>G c.(694-696)cCa>cGa p.P232R VPS37A_ENST00000521829.1_Missense_Mutation_p.P207R NM_001145152.1|NM_152415.2 NP_001138624.1|NP_689628.2 Q8NEZ2 VP37A_HUMAN vacuolar protein sorting 37 homolog A (S. cerevisiae) 232 cellular membrane organization|endosome transport|protein transport centrosome|late endosome membrane|nucleus autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1) 10 Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212) GATGCATTTCCAGAACTCTCA 0.313000 5 38 0 0 1 0 0 CDON 50937 broad.mit.edu 37 11 125875682 125875682 + Missense_Mutation SNP A A G TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr11:125875682A>G ENST00000392693.3 - 9 1950 c.1823T>C c.(1822-1824)aTc>aCc p.I608T CDON_ENST00000263577.7_Missense_Mutation_p.I608T NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 608 Fibronectin type-III 1. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) GTAAGCATTGATGGGCAGCCC 0.493000 9 57 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65268705 65268705 + RNA SNP G G T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr11:65268705G>T ENST00000534336.1 + 0 3473 NR_002819.2 ATTTTTTTTTGTGGGGGTGGG 0.393000 6 22 4.68919e-08 5.20448e-08 1 1 0 FMN2 56776 broad.mit.edu 37 1 240497499 240497499 + Missense_Mutation SNP G G T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr1:240497499G>T ENST00000319653.9 + 13 4965 c.4735G>T c.(4735-4737)Gat>Tat p.D1579Y FMN2_ENST00000545751.1_Missense_Mutation_p.D175Y NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1579 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TTTTCAAAAAGATCTCAGAAA 0.378000 30 148 8.16721e-17 9.70456e-17 1 1 0 PTPRB 5787 broad.mit.edu 37 12 70988277 70988277 + Missense_Mutation SNP G G T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr12:70988277G>T ENST00000334414.6 - 6 1530 c.1486C>A c.(1486-1488)Caa>Aaa p.Q496K PTPRB_ENST00000261266.5_Missense_Mutation_p.Q278K|PTPRB_ENST00000551525.1_Missense_Mutation_p.Q495K|PTPRB_ENST00000550358.1_Missense_Mutation_p.Q496K|PTPRB_ENST00000550857.1_Missense_Mutation_p.Q278K|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Missense_Mutation_p.Q278K|PTPRB_ENST00000538708.1_Missense_Mutation_p.Q278K NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 278 Fibronectin type-III 6. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CTGTAGTTTTGCAGCCCTGCA 0.458000 13 47 1.5842e-08 1.77782e-08 1 1 0 HERC1 8925 broad.mit.edu 37 15 63904614 63904614 + Missense_Mutation SNP C C T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr15:63904614C>T ENST00000443617.2 - 77 14323 c.14236G>A c.(14236-14238)Gag>Aag p.E4746K NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4746 HECT. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 TCATCCACCTCACGGTACCGC 0.552000 18 111 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56473842 56473842 + Missense_Mutation SNP T T C TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr6:56473842T>C ENST00000370754.5 - 39 5484 c.5485A>G c.(5485-5487)Agc>Ggc p.S1829G DST_ENST00000370769.4_Missense_Mutation_p.S1651G|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.S1651G|DST_ENST00000312431.6_Missense_Mutation_p.S1651G|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Missense_Mutation_p.S1325G Q03001 DYST_HUMAN dystonin 1651 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) GTTATCATGCTTTGAGCTAGA 0.428000 51 232 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75981291 75981291 + Silent SNP C C T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr15:75981291C>T ENST00000308508.5 - 3 2207 c.2115G>A c.(2113-2115)ggG>ggA p.G705G NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 705 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 ACTGCAGGGCCCCAGTGACGC 0.667000 5 181 0 0 1 0 0 NEDD1 121441 broad.mit.edu 37 12 97339486 97339486 + Missense_Mutation SNP C C T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr12:97339486C>T ENST00000266742.4 + 14 2009 c.1670C>T c.(1669-1671)tCt>tTt p.S557F NEDD1_ENST00000411739.2_Missense_Mutation_p.S468F|NEDD1_ENST00000557644.1_Missense_Mutation_p.S564F|NEDD1_ENST00000429527.2_Missense_Mutation_p.S557F|NEDD1_ENST00000457368.2_Missense_Mutation_p.S468F NM_152905.3 NP_690869.1 Q8NHV4 NEDD1_HUMAN neural precursor cell expressed, developmentally down-regulated 1 557 cell division|G2/M transition of mitotic cell cycle|mitosis cytosol breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8) 22 AAGATAGCATCTTCTGTCACT 0.363000 9 35 0 0 1 0 0 AGAP7 653268 broad.mit.edu 37 10 51464838 51464838 + Missense_Mutation SNP T T C TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr10:51464838T>C ENST00000374095.5 - 7 1743 c.1618A>G c.(1618-1620)Aag>Gag p.K540E NM_001077685.1 NP_001071153.1 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 540 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 11 CACCGTTCCTTCTCTTCCCTC 0.572000 22 215 0 0 1 0 0 HIST1H4G 8369 broad.mit.edu 37 6 26247100 26247100 + Silent SNP G G T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr6:26247100G>T ENST00000244537.4 - 1 159 c.106C>A c.(106-108)Cgg>Agg p.R36R NM_003547.2 NP_003538.1 Q99525 H4G_HUMAN histone cluster 1, H4g 36 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) GCCAAGCGCCGGATAGTGCAC 0.562000 9 61 1.12685e-05 1.22378e-05 1 1 0 ADM2 79924 broad.mit.edu 37 22 50921173 50921173 + Missense_Mutation SNP G G A TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr22:50921173G>A ENST00000362068.2 + 2 553 c.38G>A c.(37-39)cGg>cAg p.R13Q ADM2_ENST00000395737.1_Silent_p.S96S|ADM2_ENST00000395738.2_Silent_p.S96S Q7Z4H4 ADM2_HUMAN adrenomedullin 2 48 positive regulation of angiogenesis extracellular region hormone activity breast(1)|kidney(1) 2 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GAAGACACTCGGGCCCCCGCA 0.697000 9 18 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75981284 75981284 + Missense_Mutation SNP G G T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr15:75981284G>T ENST00000308508.5 - 3 2214 c.2122C>A c.(2122-2124)Cag>Aag p.Q708K NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 708 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 TCCCCAAACTGCAGGGCCCCA 0.672000 6 181 0.00307968 0.00324008 1 1 0 TPO 7173 broad.mit.edu 37 2 1491667 1491667 + Missense_Mutation SNP G G A TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr2:1491667G>A ENST00000345913.4 + 10 1763 c.1672G>A c.(1672-1674)Gag>Aag p.E558K TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.E385K|TPO_ENST00000329066.4_Missense_Mutation_p.E558K|TPO_ENST00000337415.3_Missense_Mutation_p.E558K|TPO_ENST00000346956.3_Missense_Mutation_p.E558K|TPO_ENST00000382198.1_Missense_Mutation_p.E385K|TPO_ENST00000382201.3_Intron NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 558 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity p.E558K(1) breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GCTGATGAACGAGGAGCTGAC 0.562000 16 72 0 0 1 0 0 FAM86DP 692099 broad.mit.edu 37 3 75475607 75475607 + RNA SNP C C T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr3:75475607C>T ENST00000459803.1 - 0 922 NR_024241.1 TCACCTAGCTCGGTGGTGAAC 0.652000 5 62 0 0 1 0 0 APMAP 57136 broad.mit.edu 37 20 24950953 24950953 + Missense_Mutation SNP G G A TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr20:24950953G>A ENST00000217456.2 - 6 883 c.593C>T c.(592-594)tCc>tTc p.S198F APMAP_ENST00000447138.1_Missense_Mutation_p.S198F NM_020531.2 NP_065392.1 adipocyte plasma membrane associated protein ATTCACAAAGGACATGTTCTT 0.428000 21 122 0 0 1 0 0 UGT2B11 10720 broad.mit.edu 37 4 70079796 70079796 + Silent SNP G G A TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr4:70079796G>A ENST00000446444.1 - 1 653 c.645C>T c.(643-645)atC>atT p.I215I RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 215 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 AAAGCACATAGATCATATTTT 0.348000 9 66 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166848095 166848095 + Missense_Mutation SNP T T C TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr2:166848095T>C ENST00000423058.2 - 26 5707 c.5690A>G c.(5689-5691)aAt>aGt p.N1897S AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.N1897S|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1869S|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.N1886S NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1897 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CTTGGAAGGATTGGAAGCCAT 0.428000 16 85 0 0 1 0 0 KRTAP20-2 337976 broad.mit.edu 37 21 32007656 32007656 + Missense_Mutation SNP G G C TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr21:32007656G>C ENST00000330798.2 + 1 102 c.74G>C c.(73-75)gGc>gCc p.G25A NM_181616.1 NP_853647.1 Q3LI61 KR202_HUMAN keratin associated protein 20-2 25 intermediate filament central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1) 8 TATGGCTGTGGCTGTGGTTAT 0.547000 10 129 0 0 1 0 0 CHRM4 1132 broad.mit.edu 37 11 46406910 46406910 + Nonsense_Mutation SNP G G A TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr11:46406910G>A ENST00000433765.2 - 1 1197 c.1198C>T c.(1198-1200)Cga>Tga p.R400* NM_000741.2 NP_000732.2 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 400 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) AAGATCGTTCGTGTCACTTTG 0.617000 9 76 0 0 1 0 0 CCDC73 493860 broad.mit.edu 37 11 32635518 32635518 + Silent SNP C C T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr11:32635518C>T ENST00000335185.5 - 16 2389 c.2346G>A c.(2344-2346)gaG>gaA p.E782E NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 782 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) CATGACTATTCTCATTGTTAA 0.323000 7 32 0 0 1 0 0 PDGFRB 5159 broad.mit.edu 37 5 149502614 149502614 + Missense_Mutation SNP G G A TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr5:149502614G>A ENST00000261799.4 - 15 2643 c.2174C>T c.(2173-2175)cCc>cTc p.P725L NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 725 Protein kinase. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CCTGGGCAGGGGGAGCCCAAC 0.637000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 8 156 0 0 1 0 0 MAPKAP1 79109 broad.mit.edu 37 9 128246829 128246829 + Missense_Mutation SNP G G A TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr9:128246829G>A ENST00000265960.3 - 9 1432 c.1100C>T c.(1099-1101)tCg>tTg p.S367L MAPKAP1_ENST00000394063.1_Missense_Mutation_p.S175L|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.S331L|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.S367L|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.S175L|MAPKAP1_ENST00000373511.2_Intron|MAPKAP1_ENST00000373497.5_Missense_Mutation_p.S80L NM_001006617.1 NP_001006618.1 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated protein 1 367 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane Ras GTPase binding endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3) 23 GTCAATTTGCGAATCCTCCTC 0.453000 13 57 0 0 1 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113655241 113655241 + Missense_Mutation SNP C C G TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr3:113655241C>G ENST00000358160.4 + 14 2077 c.1585C>G c.(1585-1587)Cag>Gag p.Q529E GRAMD1C_ENST00000452134.2_Missense_Mutation_p.Q258E|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.Q324E|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.Q362E NM_017577.4 NP_060047.3 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 529 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 ACTTTCCTCTCAGCATTCCTC 0.428000 17 114 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2058446 2058446 + Silent SNP G G A TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr9:2058446G>A ENST00000382203.1 + 8 1712 c.1503G>A c.(1501-1503)gaG>gaA p.E501E SMARCA2_ENST00000382194.1_Silent_p.E501E|SMARCA2_ENST00000349721.2_Silent_p.E501E|SMARCA2_ENST00000357248.2_Silent_p.E501E P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 501 HSA. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) TTGAAAAGGAGAGAATGCGGC 0.512000 17 133 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51175382 51175382 + Missense_Mutation SNP G G A TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr16:51175382G>A ENST00000440970.1 - 2 891 c.460C>T c.(460-462)Cgt>Tgt p.R154C SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.R251C NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 251 Poly-Ser. adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R251C(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ATTTGGTGACGAATCTGTTCG 0.532000 14 120 0 0 1 0 0 KGFLP2 654466 broad.mit.edu 37 9 41962620 41962620 + RNA SNP G G A rs137865170 by1000genomes TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr9:41962620G>A ENST00000454645.1 - 0 884 NR_003670.1 TCCTCTTACAGGAATCCCCTT 0.363000 4 34 0 0 1 0 0 KRTAP4-12 83755 broad.mit.edu 37 17 39279791 39279791 + Missense_Mutation SNP C C T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr17:39279791C>T ENST00000394014.1 - 1 628 c.584G>A c.(583-585)tGc>tAc p.C195Y NM_031854.2 NP_114060.1 Q9BQ66 KR412_HUMAN keratin associated protein 4-12 195 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GGAGGCACAGCACAAGGGGCG 0.572000 6 18 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16327921 16327921 + Missense_Mutation SNP C C A rs142039862 by1000genomes TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr6:16327921C>A ENST00000244769.4 - 8 1557 c.621G>T c.(619-621)caG>caT p.Q207H ATXN1_ENST00000436367.1_Missense_Mutation_p.Q207H NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 207 Poly-Gln. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association p.Q207H(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) gctgatgctgctgctgctgct 0.662000 5 21 3.59834e-05 3.8663e-05 1 1 0 ASXL3 80816 broad.mit.edu 37 18 31319576 31319576 + Silent SNP C C G TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr18:31319576C>G ENST00000269197.5 + 11 2208 c.2208C>G c.(2206-2208)ctC>ctG p.L736L NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 736 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CCATGCTTCTCACCTCTGAGA 0.408000 12 260 0 0 1 0 0 ABR 29 broad.mit.edu 37 17 910416 910416 + Missense_Mutation SNP C C T rs111816976 TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr17:910416C>T ENST00000544583.2 - 22 2940 c.2341G>A c.(2341-2343)Gtc>Atc p.V781I ABR_ENST00000291107.2_Missense_Mutation_p.V790I|ABR_ENST00000574437.1_Missense_Mutation_p.V781I|ABR_ENST00000572441.1_Intron|ABR_ENST00000543210.2_Missense_Mutation_p.V278I|ABR_ENST00000536794.2_Missense_Mutation_p.V609I|ABR_ENST00000302538.5_Missense_Mutation_p.V827I NM_001159746.2 NP_001153218.1 Q12979 ABR_HUMAN active BCR-related 827 Rho-GAP. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) TGCGCCATGACGTCATGGGAC 0.662000 6 87 0 0 1 0 0 PMS2P3 5387 broad.mit.edu 37 7 75157034 75157034 + RNA SNP C C T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr7:75157034C>T ENST00000418756.1 - 0 419 NR_028059.1 lung(1) 1 GGGCCCGGGCCGGGCCTACGG 0.721000 4 11 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140230586 140230586 + Missense_Mutation SNP C C G TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr5:140230586C>G ENST00000378122.3 + 1 3230 c.2506C>G c.(2506-2508)Cag>Gag p.Q836E PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAAATCCAGCAGATTTTTTT 0.274000 24 179 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20836706 20836706 + Nonsense_Mutation SNP G G A rs151082585 by1000genomes TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr14:20836706G>A ENST00000262715.5 - 55 7814 c.7774C>T c.(7774-7776)Cga>Tga p.R2592* TEP1_ENST00000556935.1_Nonsense_Mutation_p.R2484* NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 2592 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CCTTCGCATCGGAACAGGCCC 0.502000 11 60 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 4 139 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152420376 152420376 + Silent SNP G G T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr2:152420376G>T ENST00000397345.3 - 118 18742 c.18540C>A c.(18538-18540)ccC>ccA p.P6180P NEB_ENST00000427231.2_Silent_p.P6180P|NEB_ENST00000409198.1_Silent_p.P4479P|NEB_ENST00000604864.1_Silent_p.P6180P|NEB_ENST00000172853.10_Silent_p.P4479P|NEB_ENST00000603639.1_Silent_p.P6180P NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 6169 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CTCCAACAATGGGAATGTAGC 0.483000 3 37 0.115264 0.116417 1 1 0 ZIC3 7547 broad.mit.edu 37 X 136649867 136649867 + Silent SNP T T C TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chrX:136649867T>C ENST00000287538.5 + 1 1567 c.1017T>C c.(1015-1017)ttT>ttC p.F339F ZIC3_ENST00000370606.3_Silent_p.F339F NM_003413.3 NP_003404.1 O60481 ZIC3_HUMAN Zic family member 3 339 Nuclear localization signal. cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(192;0.000127) GGAAGATCTTTGCCCGTTCTG 0.587000 8 159 0 0 1 0 0 GFRA3 2676 broad.mit.edu 37 5 137593486 137593486 + Silent SNP C C T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr5:137593486C>T ENST00000274721.3 - 4 873 c.627G>A c.(625-627)gaG>gaA p.E209E GFRA3_ENST00000378362.3_Silent_p.E178E NM_001496.3 NP_001487.2 O60609 GFRA3_HUMAN GDNF family receptor alpha 3 209 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GCGCGTGGGGCTCGGCGGCCT 0.731000 13 58 0 0 1 0 0 OR5M9 390162 broad.mit.edu 37 11 56230199 56230199 + Missense_Mutation SNP G G A TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr11:56230199G>A ENST00000279791.1 - 1 678 c.679C>T c.(679-681)Cgc>Tgc p.R227C NM_001004743.1 NP_001004743.1 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, member 9 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) TCGGCAGAGCGCATGCGTAGC 0.488000 4 29 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64467347 64467347 + Translation_Start_Site SNP A A T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr14:64467347A>T ENST00000357395.3 + 0 3778 SYNE2_ENST00000358025.3_Missense_Mutation_p.H1183L|SYNE2_ENST00000344113.4_Missense_Mutation_p.H1183L|SYNE2_ENST00000554584.1_Missense_Mutation_p.H1183L Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TTAGAAAATCATGTGAATGAC 0.303000 14 61 0 0 1 0 0 CHIA 27159 broad.mit.edu 37 1 111862863 111862863 + Silent SNP G G A TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr1:111862863G>A ENST00000369740.1 + 12 1309 c.1206G>A c.(1204-1206)gaG>gaA p.E402E CHIA_ENST00000430615.1_Silent_p.E294E|CHIA_ENST00000483391.1_Silent_p.E241E|CHIA_ENST00000451398.2_Silent_p.E241E|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000343320.6_Silent_p.E402E|CHIA_ENST00000353665.6_Silent_p.E241E NM_001258001.1|NM_201653.3 NP_001244930.1|NP_970615.2 Q9BZP6 CHIA_HUMAN chitinase, acidic 402 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) AGCCCATTGAGCCAATAACTG 0.582000 19 72 0 0 1 0 0 MON1A 84315 broad.mit.edu 37 3 49948253 49948253 + Silent SNP C C T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr3:49948253C>T ENST00000417270.1 - 5 1395 c.702G>A c.(700-702)cgG>cgA p.R234R MON1A_ENST00000296473.3_Silent_p.R323R|MON1A_ENST00000455683.2_Silent_p.R161R|CTD-2330K9.3_ENST00000419183.1_Intron Q86VX9 MON1A_HUMAN MON1 secretory trafficking family member A 226 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GTGCCGACTGCCGCGTACGAG 0.592000 3 36 0 0 1 0 0 CASS4 57091 broad.mit.edu 37 20 55027486 55027486 + Silent SNP C C T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr20:55027486C>T ENST00000371336.3 + 5 1455 c.1254C>T c.(1252-1254)acC>acT p.T418T CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Silent_p.T418T NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 418 Ser-rich. cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 CCACATCCACCGACGACTCCT 0.567000 3 41 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94376882 94376882 + Missense_Mutation SNP C C A TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr4:94376882C>A ENST00000282020.4 + 11 1873 c.1615C>A c.(1615-1617)Cgt>Agt p.R539S GRID2_ENST00000510992.1_Missense_Mutation_p.R444S NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 539 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.R539C(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CTTTACGACACGTTACATGGA 0.438000 7 110 2.0095e-06 2.20608e-06 1 1 0 ZNF813 126017 broad.mit.edu 37 19 53995284 53995284 + Missense_Mutation SNP C C A TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr19:53995284C>A ENST00000396403.4 + 4 1926 c.1798C>A c.(1798-1800)Ctt>Att p.L600I ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 600 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) TCATCATAGACTTCATACTGG 0.368000 3 36 0.115264 0.116417 1 1 0 POPDC3 64208 broad.mit.edu 37 6 105607694 105607694 + Splice_Site SNP C C A rs149894294 TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr6:105607694C>A ENST00000254765.3 - 3 764 c.485_splice c.e3-1 p.R162_splice BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369122.3_RNA NM_022361.4 NP_071756.2 Q9HBV1 POPD3_HUMAN popeye domain containing 3 162 integral to membrane NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1) 26 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) TCACTCTGATCCTATCAAAAC 0.463000 4 46 0.00909568 0.00937412 1 1 0 TP53 7157 broad.mit.edu 37 17 7578479 7578479 + Missense_Mutation SNP G G A rs28934874 TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr17:7578479G>A ENST00000420246.2 - 5 583 c.451C>T c.(451-453)Ccc>Tcc p.P151S TP53_ENST00000455263.2_Missense_Mutation_p.P151S|TP53_ENST00000269305.4_Missense_Mutation_p.P151S|TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000413465.2_Missense_Mutation_p.P151S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 151 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCGGGCGGGGGTGTGGAATCA 0.612000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 29 61 0 0 1 0 0 IL17RD 54756 broad.mit.edu 37 3 57131801 57131801 + Missense_Mutation SNP G G T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr3:57131801G>T ENST00000296318.7 - 12 2018 c.1930C>A c.(1930-1932)Caa>Aaa p.Q644K IL17RD_ENST00000463523.1_Missense_Mutation_p.Q500K|IL17RD_ENST00000427856.2_Missense_Mutation_p.Q620K|IL17RD_ENST00000320057.5_Missense_Mutation_p.Q500K NM_017563.3 NP_060033.3 Q8NFM7 I17RD_HUMAN interleukin 17 receptor D 644 Golgi membrane|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1) 16 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) AGCAGGGGTTGCAGGGCGGCG 0.682000 3 29 0.004672 0.00486466 1 1 0 MTTP 4547 broad.mit.edu 37 4 100534246 100534246 + Silent SNP C C T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr4:100534246C>T ENST00000457717.1 + 16 2422 c.2166C>T c.(2164-2166)ggC>ggT p.G722G MTTP_ENST00000511045.1_Silent_p.G749G|MTTP_ENST00000265517.5_Silent_p.G722G|RP11-766F14.1_ENST00000508578.1_RNA NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 722 lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) CAGCATCTGGCGACCCTATCA 0.423000 13 43 0 0 1 0 0 SLC45A1 50651 broad.mit.edu 37 1 8399557 8399557 + Silent SNP C C T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr1:8399557C>T ENST00000471889.1 + 8 2164 c.1779C>T c.(1777-1779)atC>atT p.I593I SLC45A1_ENST00000377479.2_Silent_p.I627I|SLC45A1_ENST00000289877.8_Silent_p.I593I Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 593 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CCGCAGCTATCCTGGAGAAGC 0.652000 11 87 0 0 1 0 0 HLA-B 3106 broad.mit.edu 37 6 31324917 31324917 + Nonsense_Mutation SNP G G A rs41553720 TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr6:31324917G>A ENST00000412585.2 - 1 47 c.19C>T c.(19-21)Cga>Tga p.R7* NM_005514.6 NP_005505.2 major histocompatibility complex, class I, B endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 AGGACGGTTCGGGGCGCCATG 0.682000 Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of 7 30 0 0 1 0 0 OLFM1 10439 broad.mit.edu 37 9 137998599 137998599 + Silent SNP C C T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr9:137998599C>T ENST00000252854.4 + 5 814 c.627C>T c.(625-627)tgC>tgT p.C209C OLFM1_ENST00000371796.3_Silent_p.C200C|OLFM1_ENST00000371793.3_Silent_p.C227C NM_014279.4 NP_055094.1 Q99784 NOE1_HUMAN olfactomedin 1 227 nervous system development endoplasmic reticulum lumen protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2) 21 Myeloproliferative disorder(178;0.0333) Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07) TTCCAGCTTGCGGGAAGTTGA 0.647000 7 23 0 0 1 0 0 ONECUT1 3175 broad.mit.edu 37 15 53049960 53049960 + Missense_Mutation SNP C C T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr15:53049960C>T ENST00000305901.5 - 2 1317 c.1190G>A c.(1189-1191)cGt>cAt p.R397H ONECUT1_ENST00000561401.2_5'UTR|ONECUT1_ENST00000560699.2_Missense_Mutation_p.V38I NM_004498.2 NP_004489.1 Q9UBC0 HNF6_HUMAN one cut homeobox 1 397 endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 17 all cancers(107;0.0708) TAGAGTTCGACGCTGGACATC 0.468000 25 193 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9027468 9027468 + Missense_Mutation SNP G G T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr3:9027468G>T ENST00000383836.3 - 22 3462 c.3035C>A c.(3034-3036)cCc>cAc p.P1012H SRGAP3_ENST00000360413.3_Missense_Mutation_p.P988H NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 1012 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GGTGTGAAGGGGACTGGCGGG 0.672000 T RAF1 pilocytic astrocytoma 14 67 7.81268e-19 9.39382e-19 1 1 0 LOC101928372 101928372 broad.mit.edu 37 1 160905975 160905975 + RNA DEL T T - TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr1:160905975delT ENST00000356006.3 + 0 629 cttcttcttcttttttttttt 0.393 2 4 --- --- --- --- AQP12B 653437 broad.mit.edu 37 2 241621800 241621800 + Frame_Shift_Del DEL C C - TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr2:241621800delC ENST00000407834.3 - 1 517 c.455delG c.(454-456)acfs p.S153fs NM_001102467.1 NP_001095937.1 A6NM10 AQ12B_HUMAN aquaporin 12B 141 integral to membrane transporter activity p.S152fs*24(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1) 13 all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) CAGGGCCGAGCTGCAGCTCTG 0.697 11 5 --- --- --- --- LINC00969 440993 broad.mit.edu 37 3 195400814 195400815 + RNA INS - - TT TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr3:195400814_195400815insTT ENST00000445430.1 + 0 1410_1411 ACCTGGTTGTCTGGTCAGGCAT 0.574 7 61 --- --- --- --- SUDS3P1 285647 broad.mit.edu 37 5 177398373 177398396 + RNA DEL AGGACGAAGAGCTGGAGAGCGCCA AGGACGAAGAGCTGGAGAGCGCCA - rs70994948 TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA ENST00000511650.1 + 0 145 GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA 0.683 5 7 --- --- --- --- PHKG1 5260 broad.mit.edu 37 7 62693665 62693666 + RNA INS - - C TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr7:62693665_62693666insC ENST00000451381.1 - 0 181 GCGATCACCTGAAGGCCACGCG 0.653 5 3 --- --- --- --- DIS3 22894 broad.mit.edu 37 13 73349380 73349382 + In_Frame_Del DEL TCT TCT - TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr13:73349380_73349382delTCT ENST00000377767.4 - 6 1054_1056 c.954_956delAGA c.(952-957)gat>ga p.ED318del DIS3_ENST00000377780.4_In_Frame_Del_p.ED288del|DIS3_ENST00000545453.1_In_Frame_Del_p.ED156del NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 318 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) TTTCTCCACATCTTCTTCATTTT 0.394 Multiple Myeloma(4;0.011) 27 91 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20086237 20086237 + RNA DEL T T - TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr14:20086237delT ENST00000548261.1 + 0 51 GGTGTGTGTGTGGGGGGGTAT 0.388 5 5 --- --- --- --- HERC2P2 400322 broad.mit.edu 37 15 23299147 23299147 + RNA DEL A A - TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr15:23299147delA ENST00000560464.1 - 0 4510 ACATTCAAAGAAAAAAAAAAA 0.313 2 4 --- --- --- --- CASC5 57082 broad.mit.edu 37 15 40915815 40915816 + Frame_Shift_Del DEL TG TG - TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr15:40915815_40915816delTG ENST00000346991.5 + 11 3821_3822 c.3431_3432delTG c.(3430-3432)tfs p.L1144fs CASC5_ENST00000399668.2_Frame_Shift_Del_p.L1118fs Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 1144 2 X 104 AA approximate repeats. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) AAAACTATTTTGTATTCATGTG 0.426 15 75 --- --- --- --- EDC4 23644 broad.mit.edu 37 16 67913767 67913769 + In_Frame_Del DEL CAG CAG - TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr16:67913767_67913769delCAG ENST00000358933.5 + 16 2075_2077 c.1836_1838delCAG c.(1834-1839)ccc>cc p.PS612del NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 612 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CTGCCTCTCCcagcagcagcagc 0.611 8 158 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74394379 74394380 + RNA INS - - A rs142790741 by1000genomes TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr16:74394379_74394380insA ENST00000429810.2 - 0 435 TAGTCATCCTTAAACAAAATTC 0.347 3 3 --- --- --- --- CST5 1473 broad.mit.edu 37 20 23858182 23858182 + Frame_Shift_Del DEL A A - TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr20:23858182delA ENST00000304710.4 - 2 378 c.305delT c.(304-306)tgfs p.L102fs NM_001900.4 NP_001891.2 P28325 CYTD_HUMAN cystatin D 102 extracellular region cysteine-type endopeptidase inhibitor activity|protein binding breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1) 11 ACAGTTGTCCAAGTTGGGCTG 0.527 16 112 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36689510 36689512 + In_Frame_Del DEL CTC CTC - TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chr22:36689510_36689512delCTC ENST00000216181.5 - 30 4188_4190 c.3958_3960delGAG c.(3958-3960)del p.E1320del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1320 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity p.E1320D(1) NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TCTGCCGGTTCTCCTCCTGCAGC 0.616 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 24 144 --- --- --- --- SRPX 8406 broad.mit.edu 37 X 38079976 38079978 + In_Frame_Del DEL GCA GCA - rs72445954 TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c01fa25-4571-434e-a777-544e9fc9f607 cadcaafa-e9bc-429e-bf94-8fa6a43af319 g.chrX:38079976_38079978delGCA ENST00000378533.3 - 1 174_176 c.68_70delTGC c.(67-72)cgc>c p.LR23del SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 23 Missing. cell adhesion cell surface|membrane p.L23delL(2) autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 GGCGGGACGCgcagcagcagcag 0.729 OREG0019726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 7 --- --- --- ---