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 TNFRSF4 7293 broad.mit.edu 37 1 1148405 1148405 + Missense_Mutation SNP T T G TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr1:1148405T>G ENST00000379236.3 - 3 341 c.337A>C c.(337-339)Acc>Ccc p.T113P TNFRSF4_ENST00000453580.1_5'UTR NM_003327.3 NP_003318.1 P43489 TNR4_HUMAN tumor necrosis factor receptor superfamily, member 4 113 immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation integral to plasma membrane tumor necrosis factor receptor activity large_intestine(1)|lung(2)|urinary_tract(1) 4 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AGGGGCTGGGTGCCCGCCCGG 0.692 6 29 --- --- --- --- KIF1B 23095 broad.mit.edu 37 1 10292482 10292482 + Silent SNP C C T TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr1:10292482C>T ENST00000377086.1 + 2 298 c.96C>T c.(94-96)ggC>ggT p.G32G KIF1B_ENST00000377081.1_Silent_p.G32G|KIF1B_ENST00000377083.1_Silent_p.G32G|KIF1B_ENST00000263934.6_Silent_p.G32G|KIF1B_ENST00000377093.4_Silent_p.G32G O60333 KIF1B_HUMAN kinesin family member 1B 32 Kinesin-motor. anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding p.G32G(2) breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) AGATGCAAGGCAACTCGACCA 0.458 6 28 --- --- --- --- MASP2 10747 broad.mit.edu 37 1 11090302 11090302 + Missense_Mutation SNP A A T TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr1:11090302A>T ENST00000400897.3 - 10 1243 c.1228T>A c.(1228-1230)Tat>Aat p.Y410N RP4-635E18.8_ENST00000607145.1_RNA NM_006610.3 NP_006601.2 O00187 MASP2_HUMAN mannan-binding lectin serine peptidase 2 410 Sushi 2. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity p.Y410N(1) biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) TCACACACATATTTACCTGCA 0.393 23 139 --- --- --- --- HTR6 3362 broad.mit.edu 37 1 20005147 20005147 + Missense_Mutation SNP C C A TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr1:20005147C>A ENST00000289753.1 + 2 1269 c.802C>A c.(802-804)Ctg>Atg p.L268M NM_000871.1 NP_000862.1 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled 268 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) GAAGGCCAGCCTGACGCTGGG 0.622 4 105 --- --- --- --- ZSWIM5 57643 broad.mit.edu 37 1 45484152 45484152 + Silent SNP G G A TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr1:45484152G>A ENST00000359600.5 - 14 3737 c.3532C>T c.(3532-3534)Ctg>Ttg p.L1178L NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 1178 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) CGCACCAGCAGCATCAACTTT 0.557 OREG0013450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 243 --- --- --- --- GSTM2 2946 broad.mit.edu 37 1 110217403 110217403 + Missense_Mutation SNP G G T TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr1:110217403G>T ENST00000241337.4 + 8 652 c.602G>T c.(601-603)aGc>aTc p.S201I GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000414179.2_Intron|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000369827.3_Missense_Mutation_p.S162I NM_000848.3 NP_000839.1 glutathione S-transferase mu 2 (muscle) p.S201I(1) kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2) 11 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227) ATGAAGTCCAGCCGCTTCCTC 0.577 20 137 --- --- --- --- GSTM2 2946 broad.mit.edu 37 1 110217413 110217413 + Silent SNP C C G TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr1:110217413C>G ENST00000241337.4 + 8 662 c.612C>G c.(610-612)ctC>ctG p.L204L GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000414179.2_Intron|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000369827.3_Silent_p.L165L NM_000848.3 NP_000839.1 glutathione S-transferase mu 2 (muscle) p.L204L(2) kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2) 11 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227) GCCGCTTCCTCCCAAGACCTG 0.582 23 146 --- --- --- --- EPRS 2058 broad.mit.edu 37 1 220205767 220205767 + Missense_Mutation SNP C C G TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr1:220205767C>G ENST00000366923.3 - 5 759 c.490G>C c.(490-492)Ggt>Cgt p.G164R NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 164 Glutamyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) CACTTGGTACCTACTGACTGG 0.438 4 127 --- --- --- --- DRC1 92749 broad.mit.edu 37 2 26671662 26671662 + Silent SNP T T C TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr2:26671662T>C ENST00000288710.2 + 11 1574 c.1500T>C c.(1498-1500)tgT>tgC p.C500C NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) TGCTCCTGTGTGACGAGTCGG 0.602 8 269 --- --- --- --- RTKN 6242 broad.mit.edu 37 2 74666743 74666743 + Missense_Mutation SNP C C T rs112456374 TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr2:74666743C>T ENST00000305557.5 - 2 592 c.7G>A c.(7-9)Gac>Aac p.D3N RTKN_ENST00000233330.6_Intron|RTKN_ENST00000272430.5_Intron|RTKN_ENST00000484453.1_Intron NM_033046.2 NP_149035.1 Q9BST9 RTKN_HUMAN rhotekin 0 apoptosis|regulation of anti-apoptosis|Rho protein signal transduction intracellular GTP binding|GTP-Rho binding|GTPase inhibitor activity p.D3N(1) endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 16 TGCAATCTGTCCTGCATCTCT 0.577 11 48 --- --- --- --- EIF2AK3 9451 broad.mit.edu 37 2 88870483 88870483 + Missense_Mutation SNP T T A TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr2:88870483T>A ENST00000303236.3 - 14 3195 c.2894A>T c.(2893-2895)gAt>gTt p.D965V EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D814V|AC104134.2_ENST00000413234.1_RNA NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 965 Protein kinase. activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding p.D965V(2) ovary(3) 3 CTCTTCCTCATCCTGGTCCAT 0.463 39 252 --- --- --- --- NPAS2 4862 broad.mit.edu 37 2 101591316 101591316 + Missense_Mutation SNP G G A TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr2:101591316G>A ENST00000335681.5 + 13 1477 c.1192G>A c.(1192-1194)Ggt>Agt p.G398S NPAS2_ENST00000542504.1_Missense_Mutation_p.G463S|AC016738.3_ENST00000439150.1_RNA|AC016738.3_ENST00000446644.1_RNA NM_002518.3 NP_002509.2 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 398 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.G398S(1) cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ACTCGACGTGGGTGCCTCGGG 0.532 18 82 --- --- --- --- ITGA6 3655 broad.mit.edu 37 2 173349859 173349859 + Missense_Mutation SNP G G C TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr2:173349859G>C ENST00000375221.2 + 14 2041 c.1838G>C c.(1837-1839)aGa>aCa p.R613T AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264106.6_Missense_Mutation_p.R613T|ITGA6_ENST00000409532.1_Missense_Mutation_p.R455T|ITGA6_ENST00000343713.4_Missense_Mutation_p.R569T|ITGA6_ENST00000409080.1_Missense_Mutation_p.R574T|ITGA6_ENST00000264107.7_Missense_Mutation_p.R574T P23229 ITA6_HUMAN integrin, alpha 6 613 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) GATAATATCAGAGATAAACTG 0.428 6 171 --- --- --- --- STAT4 6775 broad.mit.edu 37 2 191897839 191897839 + Missense_Mutation SNP T T G TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr2:191897839T>G ENST00000392320.2 - 21 2203 c.1889A>C c.(1888-1890)aAa>aCa p.K630T STAT4_ENST00000358470.4_Missense_Mutation_p.K630T NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 630 SH2. JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) CAACCGGCCTTTATTGTAGGG 0.423 3 128 --- --- --- --- ICA1L 130026 broad.mit.edu 37 2 203661648 203661648 + Missense_Mutation SNP T T A TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr2:203661648T>A ENST00000392237.2 - 11 1107 c.950A>T c.(949-951)gAa>gTa p.E317V ICA1L_ENST00000358299.2_Missense_Mutation_p.E317V NM_138468.4 NP_612477.3 Q8NDH6 ICA1L_HUMAN islet cell autoantigen 1,69kDa-like 317 p.E317V(1) breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGCTCCAAATTCTCTCATTTG 0.279 11 86 --- --- --- --- PTH2R 5746 broad.mit.edu 37 2 209302260 209302260 + Splice_Site SNP A A T TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr2:209302260A>T ENST00000272847.2 + 3 391 c.e3-1 PTH2R_ENST00000413482.1_Splice_Site NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) TTTTCTCATTAGAAGGTAATT 0.348 4 141 --- --- --- --- ASIC4 55515 broad.mit.edu 37 2 220396491 220396491 + Silent SNP C C T TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr2:220396491C>T ENST00000358078.4 + 2 989 c.975C>T c.(973-975)cgC>cgT p.R325R ASIC4_ENST00000347842.3_Silent_p.R325R|ASIC4_ENST00000473709.1_3'UTR Q96FT7 ACCN4_HUMAN acid-sensing (proton-gated) ion channel family member 4 325 integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity TCTATACTCGCTATGGGAAGT 0.632 7 209 --- --- --- --- NDUFA10 4705 broad.mit.edu 37 2 240960668 240960668 + Missense_Mutation SNP A A G TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr2:240960668A>G ENST00000252711.2 - 3 506 c.406T>C c.(406-408)Tac>Cac p.Y136H NDUFA10_ENST00000404554.1_Missense_Mutation_p.Y136H|NDUFA10_ENST00000407129.3_Missense_Mutation_p.Y136H|NDUFA10_ENST00000307300.4_Missense_Mutation_p.Y136H NM_004544.3 NP_004535.1 O95299 NDUAA_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa 136 mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8) 16 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) CGACTGCTGTACAACCAGGAC 0.498 OREG0015348 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 97 --- --- --- --- CCR4 1233 broad.mit.edu 37 3 32995672 32995672 + Missense_Mutation SNP G G T TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr3:32995672G>T ENST00000330953.5 + 2 926 c.758G>T c.(757-759)gGg>gTg p.G253V NM_005508.4 NP_005499.1 P51679 CCR4_HUMAN chemokine (C-C motif) receptor 4 253 chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16 CTCTTCCTTGGGTTCTGGACA 0.468 4 112 --- --- --- --- DNAH12 201625 broad.mit.edu 37 3 57488129 57488129 + Silent SNP C C T TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr3:57488129C>T ENST00000351747.2 - 10 1344 c.1164G>A c.(1162-1164)gtG>gtA p.V388V DNAH12_ENST00000389536.4_Silent_p.V388V|DNAH12_ENST00000311202.6_Silent_p.V388V NM_178504.4 NP_848599.3 Q6ZR08 DYH12_HUMAN dynein, axonemal, heavy chain 12 388 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.V388V(2) breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 CCCAGTGTAACACGTGTTCAG 0.388 48 224 --- --- --- --- UBA5 79876 broad.mit.edu 37 3 132394111 132394111 + Missense_Mutation SNP A A T TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr3:132394111A>T ENST00000356232.4 + 9 1904 c.832A>T c.(832-834)Act>Tct p.T278S UBA5_ENST00000473651.1_Missense_Mutation_p.T278S|UBA5_ENST00000493720.2_Missense_Mutation_p.T278S|UBA5_ENST00000264991.4_Missense_Mutation_p.T222S|UBA5_ENST00000494238.2_Missense_Mutation_p.T222S NM_024818.3 NP_079094.1 Q9GZZ9 UBA5_HUMAN ubiquitin-like modifier activating enzyme 5 278 protein ufmylation aggresome|cytoplasm|nucleus ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 AAATTTTGGTACTGTTAGTTT 0.294 4 85 --- --- --- --- SLCO2A1 6578 broad.mit.edu 37 3 133672578 133672578 + Missense_Mutation SNP C C G TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr3:133672578C>G ENST00000310926.4 - 5 926 c.653G>C c.(652-654)gGa>gCa p.G218A SLCO2A1_ENST00000493729.1_Missense_Mutation_p.G142A NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 218 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 GAAAGCCGGTCCAAATACAGA 0.517 3 73 --- --- --- --- FAM193A 8603 broad.mit.edu 37 4 2691264 2691264 + Missense_Mutation SNP C C A TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr4:2691264C>A ENST00000324666.5 + 12 1841 c.1490C>A c.(1489-1491)aCa>aAa p.T497K FAM193A_ENST00000545951.1_Missense_Mutation_p.T497K|FAM193A_ENST00000505311.1_Missense_Mutation_p.T497K|FAM193A_ENST00000382839.3_Missense_Mutation_p.T497K|FAM193A_ENST00000502458.1_Missense_Mutation_p.T519K NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 497 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 CAGAATCACACAAATAAGCAT 0.328 5 151 --- --- --- --- GPRIN3 285513 broad.mit.edu 37 4 90170165 90170165 + Missense_Mutation SNP C C T TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr4:90170165C>T ENST00000609438.1 - 2 1615 c.1097G>A c.(1096-1098)gGg>gAg p.G366E GPRIN3_ENST00000333209.4_Missense_Mutation_p.G366E NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 p.G366E(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) TGTGTGGCTCCCACTGCTGTG 0.582 34 158 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187629931 187629931 + Missense_Mutation SNP T T C TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr4:187629931T>C ENST00000441802.2 - 2 1260 c.1051A>G c.(1051-1053)Aaa>Gaa p.K351E NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 351 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding p.K351E(3) NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TGAATGACTTTAACAGAAGAG 0.458 HNSCC(5;0.00058) 44 242 --- --- --- --- GPR111 222611 broad.mit.edu 37 6 47650245 47650245 + Silent SNP G G A TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr6:47650245G>A ENST00000398742.2 + 5 1795 c.1746G>A c.(1744-1746)aaG>aaA p.K582K GPR111_ENST00000507065.1_Silent_p.K582K|GPR111_ENST00000296862.1_Silent_p.K650K Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 650 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 GAATCAGCAAGAACATCGCCA 0.507 7 104 --- --- --- --- DDX43 55510 broad.mit.edu 37 6 74107454 74107454 + Missense_Mutation SNP A A C TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr6:74107454A>C ENST00000370336.4 + 2 451 c.293A>C c.(292-294)aAc>aCc p.N98T DDX43_ENST00000539829.1_Missense_Mutation_p.N98T NM_018665.2 NP_061135.2 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 98 KH. intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 AGTACAACAAACACCACAATC 0.333 3 112 --- --- --- --- CYB5R4 51167 broad.mit.edu 37 6 84649905 84649905 + Missense_Mutation SNP G G C TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr6:84649905G>C ENST00000369681.5 + 13 1379 c.1239G>C c.(1237-1239)ttG>ttC p.L413F CYB5R4_ENST00000479164.1_3'UTR NM_016230.3 NP_057314.2 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity p.L413F(1) breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) ATTATGCTTTGACTGATATAC 0.333 31 166 --- --- --- --- PLEKHA8 84725 broad.mit.edu 37 7 30102304 30102304 + Missense_Mutation SNP A A C TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr7:30102304A>C ENST00000449726.1 + 12 1596 c.1246A>C c.(1246-1248)Aag>Cag p.K416Q PLEKHA8_ENST00000396257.2_Missense_Mutation_p.K416Q|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.K416Q|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.K416Q NM_001197027.1 NP_001183956.1 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 416 protein transport cytoplasm glycolipid binding|glycolipid transporter activity p.K416Q(2) breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 CAAATTTTTGAAGGGATTTTT 0.343 17 139 --- --- --- --- PDE1C 5137 broad.mit.edu 37 7 31862740 31862740 + Missense_Mutation SNP C C G TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr7:31862740C>G ENST00000396184.3 - 15 1733 c.1529G>C c.(1528-1530)tGg>tCg p.W510S PDE1C_ENST00000321453.7_Missense_Mutation_p.W510S|PDE1C_ENST00000396182.2_Missense_Mutation_p.W510S|PDE1C_ENST00000396191.1_Missense_Mutation_p.W510S|PDE1C_ENST00000396193.1_Missense_Mutation_p.W570S NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 510 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.W510S(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CACTTCCGTCCAAGTAGCTTT 0.488 31 286 --- --- --- --- SEPT14 346288 broad.mit.edu 37 7 55874871 55874871 + Missense_Mutation SNP T T C TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr7:55874871T>C ENST00000388975.3 - 8 1014 c.898A>G c.(898-900)Acc>Gcc p.T300A NM_207366.2 NP_997249.2 Q6ZU15 SEP14_HUMAN septin 14 300 cell cycle|cell division septin complex GTP binding|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TGAGTGTGGGTTTTTTCTTTT 0.353 5 194 --- --- --- --- KIAA1324L 222223 broad.mit.edu 37 7 86539226 86539226 + Missense_Mutation SNP C C T rs139786503 byFrequency TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr7:86539226C>T ENST00000450689.2 - 16 2446 c.2261G>A c.(2260-2262)gGg>gAg p.G754E KIAA1324L_ENST00000297222.6_Missense_Mutation_p.G514E|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.G683E|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.G587E NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 754 integral to membrane p.G514E(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) TACAAATGCCCCTACCAAATT 0.398 21 121 --- --- --- --- FSCN3 29999 broad.mit.edu 37 7 127235734 127235734 + Missense_Mutation SNP C C G TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr7:127235734C>G ENST00000265825.5 + 2 737 c.518C>G c.(517-519)cCc>cGc p.P173R FSCN3_ENST00000420086.2_Missense_Mutation_p.P39R NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 173 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging p.P173R(1) endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 GCAGCAGTTCCCTGCCTGGAG 0.602 24 128 --- --- --- --- KAT6A 7994 broad.mit.edu 37 8 41845068 41845068 + Missense_Mutation SNP G G A TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr8:41845068G>A ENST00000396930.3 - 4 1157 c.614C>T c.(613-615)cCa>cTa p.P205L KAT6A_ENST00000265713.2_Missense_Mutation_p.P205L|KAT6A_ENST00000406337.1_Missense_Mutation_p.P205L|KAT6A_ENST00000485568.1_Missense_Mutation_p.P205L NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 205 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GATGGGGATTGGTTCAGCAAC 0.378 13 549 --- --- --- --- RIPK2 8767 broad.mit.edu 37 8 90802606 90802606 + Missense_Mutation SNP T T C TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr8:90802606T>C ENST00000220751.4 + 11 1899 c.1585T>C c.(1585-1587)Tca>Cca p.S529P RIPK2_ENST00000540020.1_Missense_Mutation_p.S392P NM_003821.5 NP_003812.1 O43353 RIPK2_HUMAN receptor-interacting serine-threonine kinase 2 529 activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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 protein ubiquitination|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 cytosol ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 10 BRCA - Breast invasive adenocarcinoma(11;0.0474) GGTTTCTAGATCACCATCTTT 0.313 7 111 --- --- --- --- RUNX1T1 862 broad.mit.edu 37 8 93017401 93017401 + Missense_Mutation SNP T T C TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr8:93017401T>C ENST00000523629.1 - 6 1137 c.683A>G c.(682-684)gAc>gGc p.D228G RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D228G|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D191G|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D201G|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.D191G|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D239G|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D201G|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D191G|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D191G NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 228 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) CTCTGAGGAGTCAACAGGTGA 0.572 12 268 --- --- --- --- SNX31 169166 broad.mit.edu 37 8 101589258 101589258 + Nonsense_Mutation SNP G G A TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr8:101589258G>A ENST00000311812.2 - 13 1366 c.1216C>T c.(1216-1218)Caa>Taa p.Q406* SNX31_ENST00000428383.2_Nonsense_Mutation_p.Q307* NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 406 cell communication|protein transport phosphatidylinositol binding p.Q406*(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) TGGCTTTGTTGAATGTGGTAT 0.343 52 334 --- --- --- --- GLI4 2738 broad.mit.edu 37 8 144358723 144358723 + Missense_Mutation SNP C C A TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr8:144358723C>A ENST00000340042.1 + 4 965 c.880C>A c.(880-882)Ccc>Acc p.P294T GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000523522.1_Missense_Mutation_p.P294T NM_138465.3 NP_612474.1 P10075 GLI4_HUMAN GLI family zinc finger 4 294 nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(5) 9 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) GGGTGAGAAGCCCTACGCCTG 0.657 3 21 --- --- --- --- FREM1 158326 broad.mit.edu 37 9 14823308 14823308 + Missense_Mutation SNP C C A TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr9:14823308C>A ENST00000380881.4 - 14 3005 c.2190G>T c.(2188-2190)atG>atT p.M730I FREM1_ENST00000380880.3_Missense_Mutation_p.M729I|FREM1_ENST00000422223.2_Missense_Mutation_p.M729I Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 729 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding p.M729I(1)|p.M730I(1) breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) AGGCCACTTTCATATAGTTCA 0.453 74 350 --- --- --- --- TMC1 117531 broad.mit.edu 37 9 75357381 75357381 + Missense_Mutation SNP G G A TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr9:75357381G>A ENST00000297784.5 + 10 1015 c.475G>A c.(475-477)Gat>Aat p.D159N TMC1_ENST00000340019.3_Missense_Mutation_p.D159N|TMC1_ENST00000396237.3_Missense_Mutation_p.D159N NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 159 Arg/Asp/Glu/Lys-rich (highly charged). sensory perception of sound integral to membrane p.D159N(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 ATTCCTCCGTGATTTTGAGAA 0.378 16 87 --- --- --- --- FGD3 89846 broad.mit.edu 37 9 95784668 95784668 + Silent SNP A A C TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr9:95784668A>C ENST00000375482.3 + 14 2050 c.1554A>C c.(1552-1554)gcA>gcC p.A518A FGD3_ENST00000538555.1_Silent_p.A121A|FGD3_ENST00000416701.2_Silent_p.A518A|FGD3_ENST00000337352.6_Silent_p.A518A NM_001083536.1 NP_001077005.1 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 518 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding p.A518A(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 CGGGTGCAGCAGGGGTAAGTG 0.612 13 103 --- --- --- --- DDIT4 54541 broad.mit.edu 37 10 74034535 74034535 + Silent SNP G G A TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr10:74034535G>A ENST00000307365.3 + 3 489 c.288G>A c.(286-288)ctG>ctA p.L96L NM_019058.2 NP_061931.1 Q9NX09 DDIT4_HUMAN DNA-damage-inducible transcript 4 96 apoptosis p.L96L(1) cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1) 12 GTGCCAACCTGATGCAGCTGC 0.627 OREG0020262 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 371 --- --- --- --- USP54 159195 broad.mit.edu 37 10 75258743 75258743 + Missense_Mutation SNP T T C TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr10:75258743T>C ENST00000339859.4 - 23 4799 c.4699A>G c.(4699-4701)Acc>Gcc p.T1567A RP11-137L10.6_ENST00000600887.1_RNA|RP11-137L10.6_ENST00000595935.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.T608A|USP54_ENST00000428547.1_Missense_Mutation_p.T1417A|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000422491.2_Missense_Mutation_p.T702A|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.T1567A|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000442133.4_RNA Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 1567 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) GCAGTGTAGGTTAGTTGAGGA 0.532 7 419 --- --- --- --- C10orf99 387695 broad.mit.edu 37 10 85933664 85933664 + Missense_Mutation SNP C C G TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr10:85933664C>G ENST00000372126.3 + 1 171 c.57C>G c.(55-57)atC>atG p.I19M NM_207373.2 NP_997256.1 Q6UWK7 CJ099_HUMAN chromosome 10 open reading frame 99 19 extracellular region p.I19M(1)|p.I19I(1) endometrium(1)|lung(1)|pancreas(1)|prostate(1) 4 GCTTCTCCATCTTCTCCACAG 0.547 25 251 --- --- --- --- SLC18A2 6571 broad.mit.edu 37 10 119003545 119003545 + Missense_Mutation SNP C C G rs140529367 TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr10:119003545C>G ENST00000298472.5 + 3 328 c.185C>G c.(184-186)aCg>aGg p.T62R SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 62 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) GAAATCCAGACGGCCAGGCCA 0.493 3 75 --- --- --- --- ACADSB 36 broad.mit.edu 37 10 124806813 124806813 + Splice_Site SNP A A G TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr10:124806813A>G ENST00000358776.4 + 8 1003 c.989A>G c.(988-990)cAg>cGg p.Q330R ACADSB_ENST00000368869.4_Splice_Site_p.Q228R NM_001609.3 NP_001600.1 P45954 ACDSB_HUMAN acyl-CoA dehydrogenase, short/branched chain 330 branched chain family amino acid catabolic process|fatty acid metabolic process mitochondrial matrix flavin adenine dinucleotide binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835) L-Isoleucine(DB00167) TTTGATTTTCAGGTATGTAAT 0.403 3 103 --- --- --- --- ASCL3 56676 broad.mit.edu 37 11 8959683 8959683 + Missense_Mutation SNP C C G TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr11:8959683C>G ENST00000325884.1 - 2 85 c.26G>C c.(25-27)aGt>aCt p.S9T ASCL3_ENST00000531618.1_Missense_Mutation_p.S9T NM_020646.1 NP_065697.1 Q9NQ33 ASCL3_HUMAN achaete-scute family bHLH transcription factor 3 8 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleolus DNA binding breast(1)|large_intestine(2)|lung(5)|stomach(1) 9 Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228) GTCAGGTAGACTAGAGTTGCC 0.463 5 346 --- --- --- --- TTC17 55761 broad.mit.edu 37 11 43418961 43418961 + Missense_Mutation SNP G G C TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr11:43418961G>C ENST00000039989.4 + 7 852 c.838G>C c.(838-840)Gat>Cat p.D280H TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.D280H NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 280 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 CTTCTCTGCTGATGCTGCTGT 0.438 11 445 --- --- --- --- OR4S2 219431 broad.mit.edu 37 11 55418545 55418545 + Missense_Mutation SNP C C G TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr11:55418545C>G ENST00000312422.2 + 1 166 c.166C>G c.(166-168)Ccc>Gcc p.P56A NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) GTTTAAGTCACCCATGTATTT 0.393 7 488 --- --- --- --- NPAS4 266743 broad.mit.edu 37 11 66192368 66192368 + Silent SNP C C T TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr11:66192368C>T ENST00000311034.2 + 7 2183 c.2007C>T c.(2005-2007)gaC>gaT p.D669D NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 669 transcription, DNA-dependent DNA binding|signal transducer activity p.D669D(1) breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 AGCCCCTGGACTCCAACCTGT 0.607 46 269 --- --- --- --- LRFN4 78999 broad.mit.edu 37 11 66627358 66627358 + Missense_Mutation SNP A A C TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr11:66627358A>C ENST00000309602.4 + 2 1843 c.1600A>C c.(1600-1602)Act>Cct p.T534P LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron NM_024036.4 NP_076941.2 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III domain containing 4 534 integral to membrane p.T534P(1) breast(1)|lung(1)|prostate(1) 3 ACTGGTCTTCACTGTGGCCTT 0.721 7 27 --- --- --- --- USP35 57558 broad.mit.edu 37 11 77911274 77911274 + Silent SNP C C T TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr11:77911274C>T ENST00000529308.1 + 5 1293 c.1032C>T c.(1030-1032)ttC>ttT p.F344F USP35_ENST00000530267.1_Intron|USP35_ENST00000526425.1_Silent_p.F75F|USP35_ENST00000530535.1_Intron|USP35_ENST00000441408.2_5'UTR NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 344 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity p.F344F(1)|p.F100F(1) endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) ACGAAGCCTTCCACCTGGTAA 0.627 12 82 --- --- --- --- ATM 472 broad.mit.edu 37 11 108170450 108170450 + Missense_Mutation SNP G G C TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr11:108170450G>C ENST00000278616.4 + 34 5400 c.5015G>C c.(5014-5016)gGa>gCa p.G1672A ATM_ENST00000452508.2_Missense_Mutation_p.G1672A NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1672 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.G1672A(2) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GAGGCTGTTGGAAGCTGCTTG 0.333 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 30 209 --- --- --- --- TAS2R46 259292 broad.mit.edu 37 12 11214315 11214315 + Silent SNP T T A TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr12:11214315T>A ENST00000533467.1 - 1 578 c.579A>T c.(577-579)atA>atT p.I193I PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176887.2 NP_795368.2 P59540 T2R46_HUMAN taste receptor, type 2, member 46 193 sensory perception of taste cilium membrane|integral to membrane G-protein coupled receptor activity p.I193I(2) endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) GCAGAAAAGATATCAGGGTCA 0.413 39 231 --- --- --- --- RERGL 79785 broad.mit.edu 37 12 18237549 18237549 + Silent SNP C C A TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr12:18237549C>A ENST00000229002.2 - 5 443 c.237G>T c.(235-237)ggG>ggT p.G79G RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Silent_p.G78G|RERGL_ENST00000536890.1_Intron NM_024730.2 NP_079006.1 Q9H628 RERGL_HUMAN RERG/RAS-like 79 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 17 CAATAACAAACCCATCTGCCC 0.408 6 235 --- --- --- --- CASC1 55259 broad.mit.edu 37 12 25264722 25264722 + Missense_Mutation SNP A A C TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr12:25264722A>C ENST00000354189.5 - 14 1972 c.1937T>G c.(1936-1938)gTt>gGt p.V646G CASC1_ENST00000395987.3_Missense_Mutation_p.V588G|CASC1_ENST00000545133.1_Missense_Mutation_p.V523G|CASC1_ENST00000395990.2_Missense_Mutation_p.V542G|CASC1_ENST00000320267.9_Missense_Mutation_p.V582G|CASC1_ENST00000537577.1_Missense_Mutation_p.V470G NM_001082972.1 NP_001076441.1 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 582 breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) GTTTATAATAACATAAAAATG 0.279 5 140 --- --- --- --- IPO8 10526 broad.mit.edu 37 12 30818715 30818715 + Missense_Mutation SNP T T A TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr12:30818715T>A ENST00000256079.4 - 12 1624 c.1286A>T c.(1285-1287)aAg>aTg p.K429M IPO8_ENST00000544829.1_Missense_Mutation_p.K224M NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 429 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding p.K429M(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TCCATCTTTCTTCCTAGGGTC 0.358 22 134 --- --- --- --- IPO8 10526 broad.mit.edu 37 12 30818751 30818751 + Missense_Mutation SNP T T A TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr12:30818751T>A ENST00000256079.4 - 12 1588 c.1250A>T c.(1249-1251)tAt>tTt p.Y417F IPO8_ENST00000544829.1_Missense_Mutation_p.Y212F NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 417 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding p.Y417F(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) CAGGATTTGATAACAGAATGC 0.378 28 120 --- --- --- --- EEA1 8411 broad.mit.edu 37 12 93171901 93171901 + Missense_Mutation SNP C C T TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr12:93171901C>T ENST00000322349.8 - 26 3973 c.3709G>A c.(3709-3711)Gct>Act p.A1237T NM_003566.3 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1 1237 early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 GTAAGTTTAGCCTCATTTTCT 0.373 7 295 --- --- --- --- CHFR 55743 broad.mit.edu 37 12 133428223 133428223 + Silent SNP C C T rs142511371 TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr12:133428223C>T ENST00000266880.7 - 13 1569 c.1506G>A c.(1504-1506)ccG>ccA p.P502P CHFR_ENST00000443047.2_Silent_p.P411P|CHFR_ENST00000450056.2_Silent_p.P491P|CHFR_ENST00000315585.7_Silent_p.P462P|CHFR_ENST00000537522.1_Silent_p.P125P|CHFR_ENST00000432561.2_Silent_p.P503P|CHFR_ENST00000541837.2_5'UTR Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase 503 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.P462P(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) GGGCGACACGCGGGTCCTGCT 0.657 58 292 --- --- --- --- RNASE6 6039 broad.mit.edu 37 14 21250158 21250158 + Silent SNP C C T TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr14:21250158C>T ENST00000304677.2 + 2 593 c.300C>T c.(298-300)aaC>aaT p.N100N NM_005615.4 NP_005606.1 Q93091 RNAS6_HUMAN ribonuclease, RNase A family, k6 100 defense response|RNA catabolic process extracellular region nucleic acid binding|pancreatic ribonuclease activity large_intestine(1) 1 all_cancers(95;0.00406) Epithelial(56;9.21e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0126) AGCCTGTCAACATGACTGACT 0.502 8 286 --- --- --- --- TRAV40 28641 broad.mit.edu 37 14 22783112 22783112 + RNA SNP C C A TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr14:22783112C>A ENST00000390467.3 + 0 78 AGCAGACGGGCCAAATAACCG 0.478 3 74 --- --- --- --- MIS18BP1 55320 broad.mit.edu 37 14 45693191 45693191 + Missense_Mutation SNP G G T TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr14:45693191G>T ENST00000310806.4 - 11 3057 c.2599C>A c.(2599-2601)Ccc>Acc p.P867T NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 867 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 CATTCTAAGGGATGCCTATTT 0.383 8 207 --- --- --- --- DDHD1 80821 broad.mit.edu 37 14 53513502 53513502 + Missense_Mutation SNP T T C TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr14:53513502T>C ENST00000357758.3 - 12 2786 c.2603A>G c.(2602-2604)aAt>aGt p.N868S DDHD1_ENST00000323669.5_Missense_Mutation_p.N896S|DDHD1_ENST00000395606.1_Missense_Mutation_p.N875S NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 896 DDHD. lipid catabolic process cytoplasm hydrolase activity|metal ion binding p.N868S(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) TGGATCTAAATTGGGTTTTGC 0.388 25 133 --- --- --- --- DACT1 51339 broad.mit.edu 37 14 59112942 59112942 + Missense_Mutation SNP A A G TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr14:59112942A>G ENST00000395153.3 + 4 1637 c.1490A>G c.(1489-1491)gAg>gGg p.E497G DACT1_ENST00000335867.4_Missense_Mutation_p.E534G|DACT1_ENST00000556859.1_Missense_Mutation_p.E253G|DACT1_ENST00000541264.2_Missense_Mutation_p.E253G NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 534 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus p.E534G(1) endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 CCCGTGGAAGAGAGGCCTGCC 0.592 26 161 --- --- --- --- HSP90AA1 3320 broad.mit.edu 37 14 102548653 102548653 + Missense_Mutation SNP C C T TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr14:102548653C>T ENST00000334701.7 - 11 2531 c.2250G>A c.(2248-2250)atG>atA p.M750I HSP90AA1_ENST00000216281.8_Missense_Mutation_p.M628I NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 628 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) TCTTTGCTGCCATGTAACCCA 0.448 7 394 --- --- --- --- CILP 8483 broad.mit.edu 37 15 65502037 65502037 + Silent SNP C C A TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr15:65502037C>A ENST00000261883.4 - 2 223 c.57G>T c.(55-57)gtG>gtT p.V19V NM_003613.3 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 19 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix p.V19V(1) breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CTATACCCAACACAGATGTGA 0.542 10 83 --- --- --- --- DENND4A 10260 broad.mit.edu 37 15 66015198 66015198 + Missense_Mutation SNP G G T TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr15:66015198G>T ENST00000443035.3 - 12 1791 c.1576C>A c.(1576-1578)Caa>Aaa p.Q526K DENND4A_ENST00000431932.2_Missense_Mutation_p.Q526K NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 526 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 TTTGCCAATTGCTGATGCAAA 0.303 3 43 --- --- --- --- IL16 3603 broad.mit.edu 37 15 81598322 81598322 + Missense_Mutation SNP T T G TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr15:81598322T>G ENST00000394660.2 + 17 3854 c.3494T>G c.(3493-3495)aTc>aGc p.I1165S RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Missense_Mutation_p.I464S|IL16_ENST00000302987.4_Missense_Mutation_p.I1165S NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 1165 Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3. immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 GTTCTTTCCATCAACGGCAAG 0.547 8 347 --- --- --- --- POLG 5428 broad.mit.edu 37 15 89868709 89868709 + Missense_Mutation SNP C C T TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr15:89868709C>T ENST00000268124.5 - 10 2254 c.1921G>A c.(1921-1923)Gag>Aag p.E641K POLG_ENST00000442287.2_Missense_Mutation_p.E641K NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 641 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) CCAGCTGACTCCAGGGTGGTA 0.657 DNA polymerases (catalytic subunits) 12 194 --- --- --- --- SYT4 6860 broad.mit.edu 37 18 40853620 40853620 + Silent SNP T T A TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr18:40853620T>A ENST00000255224.3 - 2 1142 c.774A>T c.(772-774)ctA>ctT p.L258L SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.L240L NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 258 C2 1.|Phospholipid binding (Probable). cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 AGAGAGGAATTAGAACTTCCC 0.353 4 127 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9074121 9074121 + Missense_Mutation SNP G G C TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr19:9074121G>C ENST00000397910.4 - 3 13528 c.13325C>G c.(13324-13326)aCa>aGa p.T4442R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4444 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGGAGGGCTTGTCCAGGACAC 0.493 13 186 --- --- --- --- C19orf57 79173 broad.mit.edu 37 19 14015677 14015677 + Missense_Mutation SNP G G A TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr19:14015677G>A ENST00000454313.1 - 2 87 c.29C>T c.(28-30)tCa>tTa p.S10L C19orf57_ENST00000591586.1_Missense_Mutation_p.S10L|C19orf57_ENST00000346736.2_Missense_Mutation_p.S10L|C19orf57_ENST00000586783.1_Missense_Mutation_p.S10L Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 10 multicellular organismal development protein binding p.S10L(1) breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GAACGTACCTGAGGTCCGCAG 0.413 27 155 --- --- --- --- HAPLN4 404037 broad.mit.edu 37 19 19371864 19371864 + Missense_Mutation SNP C C T TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr19:19371864C>T ENST00000291481.7 - 3 305 c.242G>A c.(241-243)gGc>gAc p.G81D AC138430.4_ENST00000586064.2_RNA NM_023002.2 NP_075378.1 Q86UW8 HPLN4_HUMAN hyaluronan and proteoglycan link protein 4 81 Ig-like C2-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding p.G81D(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1) 16 Epithelial(12;0.00575) GAGCCGGACGCCGTCGTGACC 0.667 9 49 --- --- --- --- FAM98C 147965 broad.mit.edu 37 19 38895746 38895746 + Missense_Mutation SNP A A T TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr19:38895746A>T ENST00000252530.5 + 4 567 c.548A>T c.(547-549)cAt>cTt p.H183L FAM98C_ENST00000343358.7_Missense_Mutation_p.H183L|FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000585954.1_3'UTR NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 183 p.H183L(1) endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CAGGAGTTGCATGCTAAGGTA 0.627 16 66 --- --- --- --- BFSP1 631 broad.mit.edu 37 20 17475376 17475376 + Missense_Mutation SNP C C A TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr20:17475376C>A ENST00000377873.3 - 8 1380 c.1341G>T c.(1339-1341)aaG>aaT p.K447N BFSP1_ENST00000377868.2_Missense_Mutation_p.K322N|BFSP1_ENST00000536626.1_Missense_Mutation_p.K308N|BFSP1_ENST00000544874.1_Missense_Mutation_p.K308N NM_001195.3 NP_001186.1 Q12934 BFSP1_HUMAN beaded filament structural protein 1, filensin 447 Tail. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens p.K447N(1) central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1) 18 TCTCCTTGACCTTCCTGTATA 0.527 35 217 --- --- --- --- RAE1 8480 broad.mit.edu 37 20 55948566 55948566 + Missense_Mutation SNP C C G TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr20:55948566C>G ENST00000395841.2 + 9 1098 c.678C>G c.(676-678)aaC>aaG p.N226K RAE1_ENST00000371242.2_Missense_Mutation_p.N226K|RAE1_ENST00000527947.1_Missense_Mutation_p.N226K|RAE1_ENST00000395840.2_Missense_Mutation_p.N226K NM_003610.3 NP_003601.1 P78406 RAE1L_HUMAN ribonucleic acid export 1 226 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore microtubule binding|RNA binding p.N226K(1) breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2) 21 Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08) ACAAACAGAACAAGCCTACTG 0.408 24 176 --- --- --- --- CDH4 1002 broad.mit.edu 37 20 60504782 60504782 + Missense_Mutation SNP A A T TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr20:60504782A>T ENST00000360469.5 + 13 2209 c.2121A>T c.(2119-2121)aaA>aaT p.K707N CDH4_ENST00000543233.1_Missense_Mutation_p.K633N NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 707 Cadherin 5. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CCATCATCAAAGTCAAGGTGT 0.592 5 199 --- --- --- --- SRRD 402055 broad.mit.edu 37 22 26884148 26884148 + Missense_Mutation SNP G G C TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr22:26884148G>C ENST00000215917.7 + 3 418 c.404G>C c.(403-405)gGa>gCa p.G135A NM_001013694.2 NP_001013716.2 Q9UH36 SRR1L_HUMAN SRR1 domain containing rhythmic process p.G135E(1)|p.G135A(1) endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 TTGGTCACAGGAACCTGCCAT 0.468 52 210 --- --- --- --- LIMK2 3985 broad.mit.edu 37 22 31667167 31667167 + Missense_Mutation SNP C C A TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr22:31667167C>A ENST00000331728.4 + 12 1477 c.1363C>A c.(1363-1365)Cac>Aac p.H455N LIMK2_ENST00000444929.2_Missense_Mutation_p.H209N|LIMK2_ENST00000340552.4_Missense_Mutation_p.H434N|LIMK2_ENST00000333611.4_Missense_Mutation_p.H434N|LIMK2_ENST00000406516.1_Missense_Mutation_p.H377N NM_005569.3 NP_005560.1 P53671 LIMK2_HUMAN LIM domain kinase 2 455 Protein kinase. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding p.H455N(2) endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 TCTGAACTCGCACAACTGCCT 0.542 29 158 --- --- --- --- NLGN4X 57502 broad.mit.edu 37 X 5821237 5821237 + Silent SNP G G C rs146227486 TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chrX:5821237G>C ENST00000381095.3 - 5 2109 c.1482C>G c.(1480-1482)ccC>ccG p.P494P NLGN4X_ENST00000538097.1_Silent_p.P494P|NLGN4X_ENST00000381092.1_Silent_p.P494P|NLGN4X_ENST00000381093.2_Silent_p.P514P|NLGN4X_ENST00000275857.6_Silent_p.P494P NM_001282145.1|NM_001282146.1|NM_181332.1 NP_001269074.1|NP_001269075.1|NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 494 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity p.P494P(1) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 CGAAGACATAGGGGACCTCAT 0.552 11 72 --- --- --- --- DMD 1756 broad.mit.edu 37 X 32380926 32380926 + Silent SNP T T C TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chrX:32380926T>C ENST00000357033.4 - 37 5510 c.5304A>G c.(5302-5304)tcA>tcG p.S1768S DMD_ENST00000378677.2_Silent_p.S1764S 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 1768 Interaction with SYNM (By similarity). 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) TAATTCTGTGTGAAATGGCTG 0.478 5 150 --- --- --- --- SLC20A1 6574 broad.mit.edu 37 2 113420507 113420507 + Frame_Shift_Del DEL A A - TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr2:113420507delA ENST00000272542.3 + 11 2484 c.1945delA c.(1945-1947)aacfs p.N649fs NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 649 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 TCTCTTTCGTAACATTTTTAT 0.478 37 238 --- --- --- --- HIST1H2BG 8339 broad.mit.edu 37 6 26216797 26216799 + In_Frame_Del DEL CTT CTT - TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr6:26216797_26216799delCTT ENST00000244601.3 - 1 73_75 c.73_75delAAG c.(73-75)aagdel p.K25del NM_003518.3 NP_003509.1 P62807 H2B1C_HUMAN histone cluster 1, H2bg 25 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 8 all_hematologic(11;0.196) TCTTGCCATCCTTCTTCTGCGCC 0.517 9 352 --- --- --- --- TRPA1 8989 broad.mit.edu 37 8 72936093 72936099 + Frame_Shift_Del DEL ATTTGGT ATTTGGT - TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr8:72936093_72936099delATTTGGT ENST00000262209.4 - 26 3306_3312 c.3099_3105delACCAAAT c.(3097-3105)ataccaaatfs p.IPN1033fs RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 1033 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) ATTTATCAGCATTTGGTATTTCTTGTC 0.266 11 109 --- --- --- --- ANGPT1 284 broad.mit.edu 37 8 108348408 108348408 + Translation_Start_Site DEL T T - TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr8:108348408delT ENST00000520734.1 - 0 230 ANGPT1_ENST00000520052.1_De_novo_Start_InFrame Q15389 ANGP1_HUMAN angiopoietin 1 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) CAAGATTTCATTTGTCTGTTG 0.363 9 115 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7801306 7801307 + Frame_Shift_Ins INS - - T TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f27ebd-983d-453c-973f-2a30696c9729 7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca g.chr17:7801306_7801307insT ENST00000380358.4 + 12 2115_2116 c.2114_2115insT c.(2113-2118)aattacfs p.Y706fs CHD3_ENST00000330494.7_Frame_Shift_Ins_p.Y647fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.Y647fs NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 647 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) AAAAAGGGGAATTACCACTATC 0.450 29 203 --- --- --- ---