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 KCNN3 3782 broad.mit.edu 37 1 154744824 154744824 + Missense_Mutation SNP T T C TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr1:154744824T>C ENST00000271915.4 - 3 1390 c.1075A>G c.(1075-1077)Acc>Gcc p.T359A KCNN3_ENST00000358505.2_Missense_Mutation_p.T46A|KCNN3_ENST00000361147.4_Missense_Mutation_p.T54A NM_001204087.1|NM_002249.5 NP_001191016.1|NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) CGCTCGTAGGTCATGGCTATC 0.592 9 30 --- --- --- --- C1ORF220 400798 broad.mit.edu 37 1 178514844 178514844 + Missense_Mutation SNP C C T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr1:178514844C>T ENST00000367636.4 + 2 568 c.230C>T c.(229-231)gCc>gTc p.A77V C1orf220_ENST00000319387.2_3'UTR|C1orf220_ENST00000521244.1_3'UTR GCTCTTTCCGCCACATCACAG 0.527 7 79 --- --- --- --- KIF26B 55083 broad.mit.edu 37 1 245850131 245850131 + Silent SNP G G A TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr1:245850131G>A ENST00000366518.4 + 9 2807 c.2703G>A c.(2701-2703)ctG>ctA p.L901L KIF26B_ENST00000407071.2_Silent_p.L1282L Q2KJY2 KI26B_HUMAN kinesin family member 26B 1282 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GCTCCTGGCTGAGCGAGATGA 0.612 12 35 --- --- --- --- TANC1 85461 broad.mit.edu 37 2 160035657 160035657 + Silent SNP C C G TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr2:160035657C>G ENST00000263635.6 + 14 2730 c.2493C>G c.(2491-2493)gcC>gcG p.A831A TANC1_ENST00000454300.1_Silent_p.A725A NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 831 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 AAAACACGGCCTTCCTGTGTG 0.537 46 77 --- --- --- --- CNTN6 27255 broad.mit.edu 37 3 1418725 1418725 + Missense_Mutation SNP G G A TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr3:1418725G>A ENST00000446702.2 + 17 2759 c.2132G>A c.(2131-2133)gGa>gAa p.G711E CNTN6_ENST00000539053.1_Missense_Mutation_p.G639E|CNTN6_ENST00000350110.2_Missense_Mutation_p.G711E Q9UQ52 CNTN6_HUMAN contactin 6 711 Fibronectin type-III 2. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CATGGAGGTGGAGGAAGTCGG 0.398 23 59 --- --- --- --- VGLL4 9686 broad.mit.edu 37 3 11744471 11744471 + Missense_Mutation SNP G G T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr3:11744471G>T ENST00000273038.3 - 2 403 c.38C>A c.(37-39)tCt>tAt p.S13Y VGLL4_ENST00000404339.1_5'UTR NM_001284391.1|NM_014667.2 NP_001271320.1|NP_055482.2 Q14135 VGLL4_HUMAN vestigial like 4 (Drosophila) 13 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.S13F(1) NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111) ATGCACCAGAGATGCTGCCCT 0.373 3 18 --- --- --- --- ARPP21 10777 broad.mit.edu 37 3 35763246 35763246 + Missense_Mutation SNP C C T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr3:35763246C>T ENST00000187397.4 + 14 1601 c.1145C>T c.(1144-1146)gCg>gTg p.A382V ARPP21_ENST00000417925.1_Missense_Mutation_p.A348V|ARPP21_ENST00000458225.1_Missense_Mutation_p.A348V|ARPP21_ENST00000444190.1_Missense_Mutation_p.A328V|ARPP21_ENST00000337271.5_Missense_Mutation_p.A328V NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 382 Ser-rich. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 ACCAAGACGGCGAGTTTTGGG 0.537 6 29 --- --- --- --- EPHB1 2047 broad.mit.edu 37 3 134967232 134967232 + Missense_Mutation SNP G G T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr3:134967232G>T ENST00000398015.3 + 14 2941 c.2571G>T c.(2569-2571)atG>atT p.M857I EPHB1_ENST00000493838.1_Missense_Mutation_p.M418I NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 857 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 ACCAGCTCATGCTGGACTGTT 0.577 37 76 --- --- --- --- UGT2B15 7366 broad.mit.edu 37 4 69536088 69536088 + Missense_Mutation SNP T T A TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr4:69536088T>A ENST00000338206.5 - 1 258 c.249A>T c.(247-249)aaA>aaT p.K83N NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 83 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity CCAAATAATTTTTAGTTAAAG 0.308 31 81 --- --- --- --- DCHS2 54798 broad.mit.edu 37 4 155241971 155241971 + Missense_Mutation SNP G G A TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr4:155241971G>A ENST00000357232.4 - 14 3214 c.3215C>T c.(3214-3216)aCc>aTc p.T1072I NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 Cadherin 9. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ATACACCAGGGTTCCTATGGG 0.428 30 56 --- --- --- --- GCNT4 51301 broad.mit.edu 37 5 74325284 74325284 + Silent SNP C C T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr5:74325284C>T ENST00000322348.4 - 1 1440 c.579G>A c.(577-579)gaG>gaA p.E193E NM_016591.2 NP_057675.1 Q9P109 GCNT4_HUMAN glucosaminyl (N-acetyl) transferase 4, core 2 193 protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2) 19 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) ATTCCACAGCCTCTAATTTGG 0.398 22 62 --- --- --- --- DST 667 broad.mit.edu 37 6 56426236 56426236 + Missense_Mutation SNP T T C TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr6:56426236T>C ENST00000370754.5 - 57 14086 c.14087A>G c.(14086-14088)cAa>cGa p.Q4696R DST_ENST00000421834.2_Missense_Mutation_p.Q2430R|DST_ENST00000370769.4_Missense_Mutation_p.Q4518R|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.Q2430R|DST_ENST00000361203.3_Missense_Mutation_p.Q4516R|DST_ENST00000446842.2_Missense_Mutation_p.Q4192R|DST_ENST00000244364.6_Missense_Mutation_p.Q2104R Q03001 DYST_HUMAN dystonin 4516 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) CTGAGCCTTTTGCAATTTGGA 0.398 4 46 --- --- --- --- FNDC1 84624 broad.mit.edu 37 6 159654482 159654482 + Missense_Mutation SNP C C T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr6:159654482C>T ENST00000297267.9 + 11 3138 c.2938C>T c.(2938-2940)Cgt>Tgt p.R980C FNDC1_ENST00000340366.6_Missense_Mutation_p.R917C NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 980 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GTCCCCTGCTCGTCCGCCCGC 0.662 8 24 --- --- --- --- ELOVL3 83401 broad.mit.edu 37 10 103988611 103988611 + Missense_Mutation SNP C C T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr10:103988611C>T ENST00000370005.3 + 4 636 c.415C>T c.(415-417)Cgg>Tgg p.R139W NM_152310.1 NP_689523.1 Q9HB03 ELOV3_HUMAN ELOVL fatty acid elongase 3 139 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding p.R139W(1) breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1) 16 Colorectal(252;0.207) Epithelial(162;4.47e-08)|all cancers(201;7.96e-07) CCTGCGTAAGCGGCCACTCAT 0.537 36 91 --- --- --- --- IKZF5 64376 broad.mit.edu 37 10 124755532 124755532 + Missense_Mutation SNP A A C TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr10:124755532A>C ENST00000368886.5 - 4 614 c.294T>G c.(292-294)atT>atG p.I98M PSTK_ENST00000497219.1_Intron NM_001271840.1 NP_001258769.1 Q9H5V7 IKZF5_HUMAN IKAROS family zinc finger 5 (Pegasus) 98 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|lung(3)|prostate(1) 6 all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222) Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754) TGATGTGTTCAATAAGCCGGG 0.483 5 80 --- --- --- --- CKAP5 9793 broad.mit.edu 37 11 46772926 46772926 + Silent SNP T T C TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr11:46772926T>C ENST00000529230.1 - 39 5338 c.5292A>G c.(5290-5292)ctA>ctG p.L1764L CKAP5_ENST00000312055.5_Silent_p.L1704L|CKAP5_ENST00000354558.3_Silent_p.L1704L|CKAP5_ENST00000415402.1_Silent_p.L1764L Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 1764 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 ATAAGGTGTGTAGCAGGGTCT 0.428 37 73 --- --- --- --- GAB2 9846 broad.mit.edu 37 11 77937837 77937837 + Missense_Mutation SNP G G T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr11:77937837G>T ENST00000361507.4 - 4 966 c.881C>A c.(880-882)aCc>aAc p.T294N GAB2_ENST00000340149.2_Missense_Mutation_p.T256N NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 294 osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) CGTCTTGAAGGTGTACACATC 0.592 8 79 --- --- --- --- CEP164 22897 broad.mit.edu 37 11 117241960 117241960 + Silent SNP T T C TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr11:117241960T>C ENST00000278935.3 + 9 1077 c.930T>C c.(928-930)ctT>ctC p.L310L CEP164_ENST00000533706.1_3'UTR NM_001271933.1|NM_014956.4 NP_001258862.1|NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 310 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) GACCTGGTCTTCCAGAAAAAG 0.562 51 95 --- --- --- --- HSPA8 3312 broad.mit.edu 37 11 122929413 122929413 + Missense_Mutation SNP A A C TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr11:122929413A>C ENST00000534624.1 - 7 1725 c.1449T>G c.(1447-1449)aaT>aaG p.N483K HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.N483K|HSPA8_ENST00000526110.1_Missense_Mutation_p.N464K|HSPA8_ENST00000532636.1_Missense_Mutation_p.N483K|HSPA8_ENST00000533540.1_Missense_Mutation_p.N337K|HSPA8_ENST00000534319.1_Missense_Mutation_p.N247K NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 483 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TGAGTATACCATTGGCATCAA 0.453 25 55 --- --- --- --- SLC8B1 80024 broad.mit.edu 37 12 113758894 113758894 + Missense_Mutation SNP A A T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr12:113758894A>T ENST00000552014.1 - 5 844 c.329T>A c.(328-330)cTg>cAg p.L110Q SLC8B1_ENST00000202831.3_Missense_Mutation_p.L110Q|SLC8B1_ENST00000553238.1_5'UTR|SLC8B1_ENST00000546737.1_Missense_Mutation_p.L110Q solute carrier family 8 (sodium/lithium/calcium exchanger), member B1 110 AATCAGAAACAGGTAGAGCAG 0.622 20 55 --- --- --- --- SLITRK1 114798 broad.mit.edu 37 13 84455386 84455386 + Missense_Mutation SNP C C G TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr13:84455386C>G ENST00000377084.2 - 1 1142 c.257G>C c.(256-258)aGt>aCt p.S86T NM_001281503.1|NM_052910.1 NP_001268432.1|NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 86 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CATGTGCAAACTAACCGCATT 0.453 29 44 --- --- --- --- PTPN9 5780 broad.mit.edu 37 15 75816566 75816566 + Missense_Mutation SNP C C T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr15:75816566C>T ENST00000306726.2 - 3 793 c.281G>A c.(280-282)gGa>gAa p.G94E NM_002833.2 NP_002824.1 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 9 94 CRAL-TRIO. cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GGTGAATTTTCCACTGAGGAT 0.388 3 37 --- --- --- --- MEFV 4210 broad.mit.edu 37 16 3299765 3299765 + Missense_Mutation SNP G G A rs104895155 byFrequency TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr16:3299765G>A ENST00000219596.1 - 3 965 c.926C>T c.(925-927)aCg>aTg p.T309M MEFV_ENST00000339854.4_Missense_Mutation_p.T129M|MEFV_ENST00000541159.1_Missense_Mutation_p.T98M|MEFV_ENST00000536379.1_Missense_Mutation_p.T98M NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 309 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) ACTCGCAGCCGTGTCTGGTGG 0.602 7 38 --- --- --- --- ZCCHC14 23174 broad.mit.edu 37 16 87451066 87451066 + Splice_Site SNP C C G TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr16:87451066C>G ENST00000268616.4 - 8 1189 c.972G>C c.(970-972)aaG>aaC p.K324N NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 324 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) ACCGACATACCTTCTCCATGG 0.493 OREG0024030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 64 140 --- --- --- --- C17orf53 78995 broad.mit.edu 37 17 42226166 42226166 + Missense_Mutation SNP C C G TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr17:42226166C>G ENST00000319977.4 + 3 1232 c.995C>G c.(994-996)tCt>tGt p.S332C C17orf53_ENST00000245382.6_Missense_Mutation_p.S332C|C17orf53_ENST00000585683.1_Missense_Mutation_p.S332C NM_001171251.1|NM_024032.3 NP_001164722.1|NP_076937.2 Q8N3J3 CQ053_HUMAN chromosome 17 open reading frame 53 332 NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) AGGACTAGCTCTGGATTATTT 0.517 93 180 --- --- --- --- TUBB4A 10382 broad.mit.edu 37 19 6495508 6495508 + Missense_Mutation SNP C C G TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr19:6495508C>G ENST00000264071.2 - 4 1373 c.1002G>C c.(1000-1002)caG>caC p.Q334H TUBB4A_ENST00000540257.1_Missense_Mutation_p.Q334H P04350 TBB4_HUMAN tubulin, beta 4A class IVa 334 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity TGTTCTTGCTCTGCACGCTCA 0.667 154 286 --- --- --- --- CEACAM7 1087 broad.mit.edu 37 19 42192031 42192031 + Splice_Site SNP C C T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr19:42192031C>T ENST00000006724.3 - 1 265 c.64G>A c.(64-66)Gcc>Acc p.A22T CEACAM7_ENST00000338196.4_Splice_Site_p.A22T|CEACAM7_ENST00000401731.1_Splice_Site_p.A22T|CEACAM7_ENST00000602225.1_Splice_Site_p.A22T|CEACAM7_ENST00000599715.1_Intron NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 22 anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) CTCCCCTCACCTGTGAGCAGG 0.632 21 49 --- --- --- --- ITSN1 6453 broad.mit.edu 37 21 35237515 35237515 + Silent SNP C C T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr21:35237515C>T ENST00000381318.3 + 32 4239 c.3951C>T c.(3949-3951)gaC>gaT p.D1317D ITSN1_ENST00000399367.3_Silent_p.D1312D|ITSN1_ENST00000381285.4_Silent_p.D1317D|ITSN1_ENST00000437442.2_Silent_p.D1312D|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 1317 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 TGATTGGAGACATCCTGAGCG 0.617 7 26 --- --- --- --- DMD 1756 broad.mit.edu 37 X 31986568 31986568 + Missense_Mutation SNP C C G TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chrX:31986568C>G ENST00000357033.4 - 45 6708 c.6502G>C c.(6502-6504)Gaa>Caa p.E2168Q DMD_ENST00000378677.2_Missense_Mutation_p.E2164Q|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2168 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TGAATTATTTCTTCCCCAGTT 0.448 12 26 --- --- --- --- MAPRE1 22919 broad.mit.edu 37 20 31421540 31421540 + Frame_Shift_Del DEL T T - TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr20:31421540delT ENST00000375571.5 + 3 278 c.139delT c.(139-141)tttfs p.F47fs NM_012325.2 NP_036457.1 Q15691 MARE1_HUMAN microtubule-associated protein, RP/EB family, member 1 47 CH. cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule centrosome|cortical microtubule cytoskeleton|cytosol microtubule plus-end binding|protein C-terminus binding endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 GTATTGTCAGTTTATGGACAT 0.413 27 48 --- --- --- --- RPS6KA6 27330 broad.mit.edu 37 X 83411191 83411194 + Frame_Shift_Del DEL TCCT TCCT - TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chrX:83411191_83411194delTCCT ENST00000262752.2 - 3 154_157 c.147_150delAGGA c.(145-150)gaaggafs p.EG49fs RPS6KA6_ENST00000543399.1_Frame_Shift_Del_p.EG49fs NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 49 axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 CTTTAACAACTCCTTCATCCTGTA 0.358 4 8 --- --- --- ---