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 C1orf173 127254 broad.mit.edu 37 1 75038884 75038884 + Missense_Mutation SNP C C A TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr1:75038884C>A ENST00000326665.5 - 14 2728 c.2510G>T c.(2509-2511)aGg>aTg p.R837M C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 837 Glu-rich. p.R837M(1)|p.R837K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CTCTGCCCCCCTTTCTATGCC 0.562 21 227 --- --- --- --- NTNG1 22854 broad.mit.edu 37 1 107961230 107961230 + Silent SNP G G A TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr1:107961230G>A ENST00000370067.1 + 6 1743 c.1116G>A c.(1114-1116)ccG>ccA p.P372P NTNG1_ENST00000542803.1_Intron|NTNG1_ENST00000370071.2_Silent_p.P372P|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370068.1_Intron|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370073.2_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370061.3_Silent_p.P372P|NTNG1_ENST00000370070.2_Silent_p.P372P|NTNG1_ENST00000370066.1_Silent_p.P372P Q9Y2I2 NTNG1_HUMAN netrin G1 380 Laminin EGF-like 2. axonogenesis anchored to plasma membrane protein binding p.P372P(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) GGATATGGCCGAATATTTCTT 0.368 16 26 --- --- --- --- OVGP1 5016 broad.mit.edu 37 1 111969101 111969101 + Missense_Mutation SNP T T C TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr1:111969101T>C ENST00000369732.3 - 3 273 c.218A>G c.(217-219)gAt>gGt p.D73G OVGP1_ENST00000540696.1_Missense_Mutation_p.D13G NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 73 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity p.D73G(1)|p.D115G(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) AATTTTCTCATCCTGGAGATC 0.428 11 201 --- --- --- --- LCE2D 353141 broad.mit.edu 37 1 152636733 152636733 + Missense_Mutation SNP G G T TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr1:152636733G>T ENST00000368784.1 + 2 207 c.152G>T c.(151-153)aGc>aTc p.S51I NM_178430.2 NP_848517.1 Q5TA82 LCE2D_HUMAN late cornified envelope 2D 51 Cys-rich. keratinization p.S51I(1) large_intestine(1)|lung(7)|prostate(2) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGTGGTCCCAGCTCTGGGAGC 0.647 109 191 --- --- --- --- AIM2 9447 broad.mit.edu 37 1 159033301 159033301 + Missense_Mutation SNP G G A TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr1:159033301G>A ENST00000368130.4 - 5 1268 c.980C>T c.(979-981)aCa>aTa p.T327I NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 327 HIN-200. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus p.T327I(1) breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) AACTCCAGATGTCAGCTGTAG 0.423 91 348 --- --- --- --- CR1L 1379 broad.mit.edu 37 1 207870862 207870862 + Missense_Mutation SNP C C A TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr1:207870862C>A ENST00000508064.2 + 6 937 c.877C>A c.(877-879)Cca>Aca p.P293T CR1L_ENST00000530905.1_Intron NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 293 Sushi 5. cytoplasm|extracellular region|membrane p.P293T(1)|p.P301T(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TCAGCCACCTCCAGATGTCCT 0.478 110 249 --- --- --- --- CD46 4179 broad.mit.edu 37 1 207932991 207932991 + Missense_Mutation SNP T T G TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr1:207932991T>G ENST00000358170.2 + 4 553 c.397T>G c.(397-399)Tta>Gta p.L133V CD46_ENST00000367047.1_Missense_Mutation_p.L70V|CD46_ENST00000367041.1_Missense_Mutation_p.L133V|CD46_ENST00000480003.1_Missense_Mutation_p.L133V|CD46_ENST00000354848.1_Missense_Mutation_p.L133V|CD46_ENST00000357714.1_Missense_Mutation_p.L133V|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322918.5_Missense_Mutation_p.L133V|CD46_ENST00000367042.1_Missense_Mutation_p.L133V|CD46_ENST00000441839.2_Missense_Mutation_p.L133V|CD46_ENST00000360212.2_Missense_Mutation_p.L133V|CD46_ENST00000322875.4_Missense_Mutation_p.L133V|CD46_ENST00000361067.1_Missense_Mutation_p.L133V NM_002389.4 NP_002380.3 P15529 MCP_HUMAN CD46 molecule, complement regulatory protein 133 Sushi 2. complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization inner acrosomal membrane|integral to plasma membrane protein binding|receptor activity p.L133V(1) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 19 TAGTTATTACTTAATTGGTGA 0.279 23 45 --- --- --- --- HEATR1 55127 broad.mit.edu 37 1 236760202 236760202 + Silent SNP C C G TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr1:236760202C>G ENST00000366582.3 - 6 792 c.678G>C c.(676-678)tcG>tcC p.S226S HEATR1_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Silent_p.S226S NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 226 rRNA processing nucleolus|ribonucleoprotein complex protein binding p.S226S(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CTACCAGCGCCGACACTATGG 0.448 3 116 --- --- --- --- TFB2M 64216 broad.mit.edu 37 1 246729167 246729167 + Missense_Mutation SNP G G C TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr1:246729167G>C ENST00000366514.4 - 1 459 c.274C>G c.(274-276)Cca>Gca p.P92A TFB2M_ENST00000544618.1_Missense_Mutation_p.P92A NM_022366.2 NP_071761.1 Q9H5Q4 TFB2M_HUMAN transcription factor B2, mitochondrial 92 positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter mitochondrial nucleoid protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity p.P92A(1) breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376) OV - Ovarian serous cystadenocarcinoma(106;0.00358) GGTCTACTTGGTTTTCCCAAA 0.473 3 137 --- --- --- --- OR11L1 391189 broad.mit.edu 37 1 248004290 248004290 + Missense_Mutation SNP C C A TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr1:248004290C>A ENST00000355784.2 - 1 964 c.909G>T c.(907-909)aaG>aaT p.K303N NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K303N(1) NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TTCTCATGACCTTTCTAACAG 0.378 49 57 --- --- --- --- CNTNAP5 129684 broad.mit.edu 37 2 125367413 125367413 + Missense_Mutation SNP C C A TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr2:125367413C>A ENST00000431078.1 + 12 2153 c.1789C>A c.(1789-1791)Cag>Aag p.Q597K NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 597 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding p.Q597K(2) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GTACAGGCACCAGGGGAATAC 0.527 4 162 --- --- --- --- MUC4 4585 broad.mit.edu 37 3 195515854 195515854 + Missense_Mutation SNP G G A TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr3:195515854G>A ENST00000463781.3 - 2 3056 c.2597C>T c.(2596-2598)tCg>tTg p.S866L MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S866L NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 871 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.S866L(1) 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) GGGGACGATCGAAGACGCCAT 0.592 4 54 --- --- --- --- ADAMTS3 9508 broad.mit.edu 37 4 73186511 73186511 + Missense_Mutation SNP C C G TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr4:73186511C>G ENST00000286657.4 - 7 1058 c.1022G>C c.(1021-1023)aGa>aCa p.R341T NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 341 Peptidase M12B. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding p.R341T(2) NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GAGATCAGATCTTTGCTGTTG 0.443 10 227 --- --- --- --- EFHC1 114327 broad.mit.edu 37 6 52285247 52285247 + Silent SNP G G A TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr6:52285247G>A ENST00000371068.5 + 1 142 c.39G>A c.(37-39)ccG>ccA p.P13P EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000491749.1_3'UTR NM_018100.3 NP_060570.2 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 13 axoneme|neuronal cell body calcium ion binding|protein C-terminus binding p.P13P(1) breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 27 Lung NSC(77;0.109) CCTTTCTTCCGGGCACGTCCT 0.622 3 72 --- --- --- --- SMPDL3A 10924 broad.mit.edu 37 6 123127429 123127429 + Missense_Mutation SNP G G A TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr6:123127429G>A ENST00000368440.4 + 7 1148 c.971G>A c.(970-972)aGt>aAt p.S324N SMPDL3A_ENST00000539041.1_Missense_Mutation_p.S193N NM_006714.3 NP_006705.1 Q92484 ASM3A_HUMAN sphingomyelin phosphodiesterase, acid-like 3A 324 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity p.S324N(1) breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 10 GBM - Glioblastoma multiforme(226;0.236) CCAGTGAAGAGTGTTTTAGAA 0.358 14 124 --- --- --- --- MEPCE 56257 broad.mit.edu 37 7 100028387 100028387 + Missense_Mutation SNP A A C TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr7:100028387A>C ENST00000310512.2 + 1 1134 c.746A>C c.(745-747)cAt>cCt p.H249P MEPCE_ENST00000414441.1_5'UTR NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 249 methyltransferase activity p.H249P(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GATGAGGGCCATGTAGTTCTT 0.582 18 291 --- --- --- --- VGF 7425 broad.mit.edu 37 7 100807590 100807590 + Missense_Mutation SNP C C G TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr7:100807590C>G ENST00000249330.2 - 2 774 c.535G>C c.(535-537)Gag>Cag p.E179Q VGF_ENST00000445482.2_Missense_Mutation_p.E179Q NM_003378.3 NP_003369.2 O15240 VGF_HUMAN VGF nerve growth factor inducible 179 response to cAMP extracellular space|transport vesicle growth factor activity p.E179Q(1) cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1) 9 Lung NSC(181;0.168)|all_lung(186;0.215) GCCGCCGTCTCCTGCTGGCGC 0.672 3 80 --- --- --- --- KLF10 7071 broad.mit.edu 37 8 103664291 103664291 + Splice_Site SNP T T A TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr8:103664291T>A ENST00000395884.3 - 3 1140 c.e3-2 KLF10_ENST00000285407.6_Splice_Site NM_001032282.2 NP_001027453.1 Q13118 KLF10_HUMAN Kruppel-like factor 10 cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.?(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3) 18 all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169) OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826) AGTCAAACACTAAAGAAAAGG 0.333 OREG0018913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 74 --- --- --- --- ZHX1 11244 broad.mit.edu 37 8 124265827 124265827 + Missense_Mutation SNP T T C TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr8:124265827T>C ENST00000395571.3 - 3 2977 c.2360A>G c.(2359-2361)gAt>gGt p.D787G ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.D787G|ZHX1_ENST00000522655.1_Missense_Mutation_p.D787G NM_001017926.2|NM_007222.4 NP_001017926.1|NP_009153.3 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 787 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D787G(1) breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) CAGGTAATAATCCTTAAGTAT 0.423 6 565 --- --- --- --- VPS13A 23230 broad.mit.edu 37 9 79981645 79981645 + Missense_Mutation SNP A A T TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr9:79981645A>T ENST00000360280.3 + 61 8588 c.8328A>T c.(8326-8328)ttA>ttT p.L2776F VPS13A_ENST00000357409.5_Missense_Mutation_p.L2776F|VPS13A_ENST00000376636.3_Missense_Mutation_p.L2737F|VPS13A_ENST00000376634.4_Missense_Mutation_p.L2776F NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 2776 Golgi to endosome transport|protein transport intracellular protein binding p.L2776F(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CTTTTTAGTTACATTTAAGTG 0.269 4 79 --- --- --- --- SH2D3C 10044 broad.mit.edu 37 9 130504081 130504081 + Missense_Mutation SNP G G C TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr9:130504081G>C ENST00000314830.8 - 9 2187 c.2074C>G c.(2074-2076)Ctg>Gtg p.L692V SH2D3C_ENST00000373276.3_Missense_Mutation_p.L624V|SH2D3C_ENST00000420366.1_Missense_Mutation_p.L534V|SH2D3C_ENST00000373277.4_Missense_Mutation_p.L535V|SH2D3C_ENST00000429553.1_Missense_Mutation_p.L338V|SH2D3C_ENST00000373274.3_Missense_Mutation_p.L532V NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 692 Ras-GEF. JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GCCATGTCCAGGGCACCCATG 0.637 15 32 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89720826 89720826 + Missense_Mutation SNP A A G TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr10:89720826A>G ENST00000371953.3 + 8 2334 c.977A>G c.(976-978)gAc>gGc p.D326G PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 326 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.?(2)|p.D326G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.W274_F341del(1)|p.D326_K342del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AATGATCTTGACAAAGCAAAT 0.333 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 7 161 --- --- --- --- SLC5A12 159963 broad.mit.edu 37 11 26734248 26734248 + Missense_Mutation SNP T T A TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr11:26734248T>A ENST00000396005.3 - 2 654 c.345A>T c.(343-345)ttA>ttT p.L115F SLC5A12_ENST00000280467.6_Missense_Mutation_p.L115F NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 115 sodium ion transport apical plasma membrane|integral to membrane symporter activity p.L115F(2) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 ATCGTAGTTGTAAGTACTAAA 0.428 8 453 --- --- --- --- OR5L2 26338 broad.mit.edu 37 11 55595427 55595427 + Missense_Mutation SNP C C A TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr11:55595427C>A ENST00000378397.1 + 1 733 c.733C>A c.(733-735)Ctc>Atc p.L245I NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L245I(1) breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) TGCCTCCCACCTCACAGCCAT 0.498 HNSCC(27;0.073) 5 179 --- --- --- --- UBC 7316 broad.mit.edu 37 12 125398090 125398090 + Silent SNP C C T TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr12:125398090C>T ENST00000536769.1 - 1 1804 c.228G>A c.(226-228)ggG>ggA p.G76G UBC_ENST00000538617.1_Silent_p.G76G|UBC_ENST00000546120.1_Silent_p.G76G|UBC_ENST00000339647.5_Silent_p.G76G P0CG48 UBC_HUMAN ubiquitin C 76 Ubiquitin-like 1. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.G76G(1) breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) AGATTTGCATCCCACCTCTGA 0.532 8 346 --- --- --- --- RNF17 56163 broad.mit.edu 37 13 25376711 25376711 + Splice_Site SNP T T A TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr13:25376711T>A ENST00000255324.5 + 14 2001 c.e14+2 RNF17_ENST00000381921.1_Splice_Site|RNF17_ENST00000255325.6_Splice_Site NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding p.?(4) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) ACTAGCAAAGTAAGTAACTTA 0.323 5 183 --- --- --- --- PCSK6 5046 broad.mit.edu 37 15 101938639 101938639 + Silent SNP A A C TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr15:101938639A>C ENST00000348070.1 - 8 962 c.963T>G c.(961-963)gcT>gcG p.A321A PCSK6_ENST00000358417.3_Silent_p.A321A|PCSK6_ENST00000398181.2_Silent_p.A321A|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Silent_p.A321A|PCSK6_ENST00000331826.7_Silent_p.A156A NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 322 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity p.A321A(3) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AAGCCTGCTTAGCCAGTCGGC 0.552 7 171 --- --- --- --- CDH8 1006 broad.mit.edu 37 16 61935093 61935093 + Missense_Mutation SNP C C A TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr16:61935093C>A ENST00000577390.1 - 3 1491 c.537G>T c.(535-537)atG>atT p.M179I CDH8_ENST00000584337.1_Missense_Mutation_p.M179I|CDH8_ENST00000299345.6_Missense_Mutation_p.M179I|CDH8_ENST00000577730.1_Missense_Mutation_p.M179I NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 179 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.M179I(1) biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CCAAAATGGACATTTCTGGCA 0.383 5 193 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26680002 26680002 + Silent SNP G G A TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr17:26680002G>A ENST00000540200.1 - 7 554 c.555C>T c.(553-555)tcC>tcT p.S185S POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 186 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) CCTGATCAGTGGAGGTGTAGG 0.488 17 41 --- --- --- --- INSR 3643 broad.mit.edu 37 19 7174736 7174736 + Silent SNP C C A TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr19:7174736C>A ENST00000341500.5 - 4 1020 c.981G>T c.(979-981)ctG>ctT p.L327L INSR_ENST00000302850.5_Silent_p.L327L NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 327 Cys-rich. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding p.L327L(3) breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATGGGGTGCACAGCAAGCTAA 0.587 3 37 --- --- --- --- SPC24 147841 broad.mit.edu 37 19 11258496 11258496 + Missense_Mutation SNP C C A TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr19:11258496C>A ENST00000592540.1 - 4 516 c.485G>T c.(484-486)gGc>gTc p.G162V NM_182513.2 NP_872319.1 Q8NBT2 SPC24_HUMAN SPC24, NDC80 kinetochore complex component 162 Interaction with the C-terminus of SPBC25. cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding p.G162V(1) autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1) 5 AAGGATACTGCCTTTGACCAT 0.438 3 37 --- --- --- --- GLTSCR1 29998 broad.mit.edu 37 19 48202015 48202015 + Missense_Mutation SNP C C T TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr19:48202015C>T ENST00000396720.3 + 12 3567 c.3373C>T c.(3373-3375)Ccc>Tcc p.P1125S CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 1125 protein binding p.P1125S(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) GGGCGCCCTCCCCTCCCCCAG 0.682 OREG0025594 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 9 --- --- --- --- MECOM 2122 broad.mit.edu 37 3 168807995 168807995 + Frame_Shift_Del DEL T T - TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr3:168807995delT ENST00000464456.1 - 13 3803 c.2603delA c.(2602-2604)aagfs p.K868fs MECOM_ENST00000460814.1_Frame_Shift_Del_p.K868fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.K877fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.K1056fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.K878fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.K877fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.K878fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.K942fs NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CACCAAAGCCTTTTCATCTTT 0.318 38 286 --- --- --- --- CEP57L1 285753 broad.mit.edu 37 6 109476463 109476466 + Frame_Shift_Del DEL AAGG AAGG - TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr6:109476463_109476466delAAGG ENST00000521277.1 + 7 1087_1090 c.562_565delAAGG c.(562-567)aaggaafs p.KE188fs CEP57L1_ENST00000517392.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000523787.1_Frame_Shift_Del_p.KE207fs|CEP57L1_ENST00000519095.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000368970.2_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000359793.3_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000521522.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000407272.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000368968.2_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000336977.4_Frame_Shift_Del_p.KE128fs|CEP57L1_ENST00000520883.1_Frame_Shift_Del_p.KE128fs Q8IYX8 CE57L_HUMAN centrosomal protein 57kDa-like 1 204 microtubule|microtubule organizing center endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1) 11 AGAAAAACTTAAGGAAGAAGAACA 0.275 33 134 --- --- --- --- VRK3 51231 broad.mit.edu 37 19 50511057 50511058 + Frame_Shift_Ins INS - - G TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0e1221-01d3-44dc-a762-2084b3a42cc1 bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414 g.chr19:50511057_50511058insG ENST00000599538.1 - 5 979_980 c.315_316insC c.(313-318)cccaaafs p.K106fs VRK3_ENST00000601912.1_Frame_Shift_Ins_p.K56fs|VRK3_ENST00000594092.1_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000316763.3_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000594948.1_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000377011.2_Frame_Shift_Ins_p.K56fs|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000593919.1_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000601341.1_Frame_Shift_Ins_p.K56fs|VRK3_ENST00000443401.2_5'UTR Q8IV63 VRK3_HUMAN vaccinia related kinase 3 106 nucleus ATP binding|protein kinase activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1) 23 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) GGGCTGCTTTTGGGGGTTGGGG 0.564 7 251 --- --- --- ---