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 RPF1 80135 broad.mit.edu 37 1 84961652 84961652 + Missense_Mutation SNP T T G TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr1:84961652T>G ENST00000370654.5 + 7 802 c.787T>G c.(787-789)Ttt>Gtt p.F263V NM_025065.6 NP_079341.2 Q9H9Y2 RPF1_HUMAN ribosome production factor 1 homolog (S. cerevisiae) 263 Brix. rRNA processing|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|rRNA binding breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1) 14 TGGACGTATGTTTGCATCTCT 0.398 17 35 --- --- --- --- SLAMF9 89886 broad.mit.edu 37 1 159922246 159922246 + Missense_Mutation SNP G G A TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr1:159922246G>A ENST00000368093.3 - 3 586 c.470C>T c.(469-471)tCt>tTt p.S157F SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR NM_033438.3 NP_254273.2 Q96A28 SLAF9_HUMAN SLAM family member 9 157 Ig-like C2-type. integral to membrane p.S157Y(1) breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTTCTCCACAGAGCACACCAG 0.547 14 100 --- --- --- --- SIPA1L2 57568 broad.mit.edu 37 1 232601028 232601028 + Missense_Mutation SNP T T G TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr1:232601028T>G ENST00000366630.1 - 8 2736 c.2378A>C c.(2377-2379)aAa>aCa p.K793T SIPA1L2_ENST00000262861.4_Missense_Mutation_p.K793T Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 793 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CTTTTCTGATTTATGGGCTGC 0.483 34 82 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179418324 179418324 + Missense_Mutation SNP C C T TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr2:179418324C>T ENST00000589042.1 - 334 89632 c.89408G>A c.(89407-89409)gGa>gAa p.G29803E TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27235E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G20863E|TTN_ENST00000460472.2_Missense_Mutation_p.G20738E|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20930E|TTN_ENST00000591111.1_Missense_Mutation_p.G28162E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28162 Fibronectin type-III 117. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTAATTGACTCCAGGTTTCAG 0.423 4 58 --- --- --- --- DYTN 391475 broad.mit.edu 37 2 207564545 207564545 + Missense_Mutation SNP A A G TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr2:207564545A>G ENST00000452335.2 - 7 741 c.625T>C c.(625-627)Tgg>Cgg p.W209R DYTN_ENST00000477734.1_5'UTR NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 209 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) GTCGGGAGCCACAGGAGGATG 0.522 10 18 --- --- --- --- STAC 6769 broad.mit.edu 37 3 36570362 36570362 + Missense_Mutation SNP G G T TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr3:36570362G>T ENST00000273183.3 + 10 1295 c.995G>T c.(994-996)gGc>gTc p.G332V STAC_ENST00000457375.2_Missense_Mutation_p.G271V NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 332 SH3. intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 GACAGAATTGGCTTCTTTCCA 0.358 19 28 --- --- --- --- PCBP4 57060 broad.mit.edu 37 3 51992299 51992299 + Silent SNP G G A TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr3:51992299G>A ENST00000461554.1 - 14 1321 c.990C>T c.(988-990)ccC>ccT p.P330P PCBP4_ENST00000395013.3_Silent_p.P170P|PCBP4_ENST00000355852.2_Silent_p.P330P|PCBP4_ENST00000395014.2_Silent_p.P351P|PCBP4_ENST00000428823.2_Silent_p.P287P|PCBP4_ENST00000471622.1_Intron|PCBP4_ENST00000322099.7_Silent_p.P330P|PCBP4_ENST00000484633.1_Silent_p.P287P NM_001174100.1 NP_001167571.1 P57723 PCBP4_HUMAN poly(rC) binding protein 4 330 cytoplasm|ribonucleoprotein complex DNA binding|RNA binding endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1) 8 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GTGGCGAGAAGGGGGCAGGCA 0.662 6 34 --- --- --- --- ROBO2 6092 broad.mit.edu 37 3 77666801 77666801 + Missense_Mutation SNP C C A TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr3:77666801C>A ENST00000461745.1 + 22 4331 c.3431C>A c.(3430-3432)tCc>tAc p.S1144Y ROBO2_ENST00000487694.3_Missense_Mutation_p.S1160Y|ROBO2_ENST00000332191.8_Missense_Mutation_p.S1144Y|ROBO2_ENST00000469233.1_3'UTR NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1144 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CCTGCTATCTCCTTTGGACAG 0.512 25 54 --- --- --- --- IFT122 55764 broad.mit.edu 37 3 129185799 129185799 + Nonsense_Mutation SNP T T G TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr3:129185799T>G ENST00000296266.3 + 9 975 c.783T>G c.(781-783)taT>taG p.Y261* IFT122_ENST00000347300.2_Intron|IFT122_ENST00000349441.2_Intron|IFT122_ENST00000507564.1_Intron|IFT122_ENST00000440957.2_Intron|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000348417.2_Nonsense_Mutation_p.Y210*|IFT122_ENST00000431818.2_Nonsense_Mutation_p.Y60* NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 210 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 TCAACAGATATATTCAGGAAA 0.468 31 76 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618405 89618405 + Silent SNP G G A TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr4:89618405G>A ENST00000323061.5 - 1 981 c.501C>T c.(499-501)gcC>gcT p.A167A HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 167 nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) CGTCATGTTTGGCCCCCGCGG 0.602 45 115 --- --- --- --- KCNU1 157855 broad.mit.edu 37 8 36698073 36698073 + Missense_Mutation SNP G G A TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr8:36698073G>A ENST00000399881.3 + 15 1648 c.1611G>A c.(1609-1611)atG>atA p.M537I NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 537 Segment S8. voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TTGCTGGAATGAGCTTTCCTG 0.428 7 18 --- --- --- --- ADAM2 2515 broad.mit.edu 37 8 39624425 39624425 + Silent SNP G G A TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr8:39624425G>A ENST00000265708.4 - 14 1552 c.1449C>T c.(1447-1449)atC>atT p.I483I ADAM2_ENST00000521880.1_Silent_p.I483I|ADAM2_ENST00000379853.2_Silent_p.I357I|ADAM2_ENST00000347580.4_Silent_p.I464I NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 483 Cys-rich. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CATCTATACAGATCCATTGAT 0.388 5 120 --- --- --- --- ADAM2 2515 broad.mit.edu 37 8 39624531 39624531 + Missense_Mutation SNP G G T TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr8:39624531G>T ENST00000265708.4 - 14 1446 c.1343C>A c.(1342-1344)tCc>tAc p.S448Y ADAM2_ENST00000521880.1_Missense_Mutation_p.S448Y|ADAM2_ENST00000379853.2_Missense_Mutation_p.S322Y|ADAM2_ENST00000347580.4_Missense_Mutation_p.S429Y NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 448 Disintegrin. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TTCTTCAAAGGAAGGCCTACA 0.383 5 123 --- --- --- --- ADAM2 2515 broad.mit.edu 37 8 39624555 39624555 + Nonsense_Mutation SNP G G C TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr8:39624555G>C ENST00000265708.4 - 14 1422 c.1319C>G c.(1318-1320)tCa>tGa p.S440* ADAM2_ENST00000521880.1_Nonsense_Mutation_p.S440*|ADAM2_ENST00000379853.2_Nonsense_Mutation_p.S314*|ADAM2_ENST00000347580.4_Nonsense_Mutation_p.S421* NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 440 Disintegrin. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TCTTTCTTTTGACATAAACTG 0.343 4 113 --- --- --- --- LY96 23643 broad.mit.edu 37 8 74922262 74922262 + Missense_Mutation SNP A A T TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr8:74922262A>T ENST00000284818.2 + 3 320 c.229A>T c.(229-231)Aat>Tat p.N77Y LY96_ENST00000518893.1_Missense_Mutation_p.N47Y NM_015364.4 NP_056179 Q9Y6Y9 LY96_HUMAN lymphocyte antigen 96 77 cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway extracellular space|lipopolysaccharide receptor complex|plasma membrane coreceptor activity|lipopolysaccharide receptor activity|protein binding endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 Breast(64;0.0311) Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619) ATTATATTTCAATCTCTATAT 0.328 17 46 --- --- --- --- TAL2 6887 broad.mit.edu 37 9 108425068 108425068 + Silent SNP G G A TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr9:108425068G>A ENST00000334077.3 + 1 331 c.291G>A c.(289-291)caG>caA p.Q97Q NM_005421.2 NP_005412.1 Q16559 TAL2_HUMAN T-cell acute lymphocytic leukemia 2 97 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding AGAACTACCAGGTTCCTTCAC 0.572 T TRB@ T-ALL 12 29 --- --- --- --- DKK1 22943 broad.mit.edu 37 10 54076171 54076171 + Missense_Mutation SNP T T C TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr10:54076171T>C ENST00000373970.3 + 3 662 c.523T>C c.(523-525)Tct>Cct p.S175P DKK1_ENST00000467359.1_3'UTR NM_012242.2 NP_036374.1 O94907 DKK1_HUMAN dickkopf WNT signaling pathway inhibitor 1 175 negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization extracellular space|plasma membrane growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 16 AACCACCTTGTCTTCAAAAAT 0.368 4 74 --- --- --- --- KIF20B 9585 broad.mit.edu 37 10 91512349 91512349 + Silent SNP C C T TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr10:91512349C>T ENST00000416354.1 + 25 4410 c.4338C>T c.(4336-4338)tgC>tgT p.C1446C KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Silent_p.C1416C|KIF20B_ENST00000260753.4_Silent_p.C1376C|KIF20B_ENST00000371728.3_Silent_p.C1416C Q96Q89 KI20B_HUMAN kinesin family member 20B 1416 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 AGGAAAAATGCAATGATTTGG 0.328 11 20 --- --- --- --- PPP2R5B 5526 broad.mit.edu 37 11 64694285 64694285 + Nonsense_Mutation SNP G G T TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr11:64694285G>T ENST00000164133.2 + 3 923 c.301G>T c.(301-303)Gag>Tag p.E101* NM_006244.3 NP_006235.1 Q15173 2A5B_HUMAN protein phosphatase 2, regulatory subunit B', beta 101 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2) 21 CAAGGGGAAGGAGGTGAAGCG 0.632 6 111 --- --- --- --- UBASH3B 84959 broad.mit.edu 37 11 122659912 122659912 + Silent SNP C C T TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr11:122659912C>T ENST00000284273.5 + 6 1251 c.876C>T c.(874-876)agC>agT p.S292S NM_032873.4 NP_116262.2 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing B 292 SH3. cytoplasm|nucleus protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2) 26 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) CCAGCACCAGCGAGGGTTGGA 0.527 64 153 --- --- --- --- GALNT8 26290 broad.mit.edu 37 12 4853823 4853823 + Missense_Mutation SNP G G A TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr12:4853823G>A ENST00000252318.2 + 4 1154 c.817G>A c.(817-819)Gtg>Atg p.V273M NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 273 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 CACAGCAGACGTGGTCGCCAT 0.498 10 20 --- --- --- --- ARNTL2 56938 broad.mit.edu 37 12 27540209 27540209 + Missense_Mutation SNP C C T TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr12:27540209C>T ENST00000544915.1 + 6 730 c.511C>T c.(511-513)Ctc>Ttc p.L171F ARNTL2_ENST00000311001.5_Missense_Mutation_p.L191F|ARNTL2_ENST00000261178.5_Missense_Mutation_p.L157F|ARNTL2_ENST00000546179.1_Missense_Mutation_p.L168F|ARNTL2_ENST00000266503.5_Missense_Mutation_p.L205F|ARNTL2_ENST00000542388.1_Missense_Mutation_p.L120F|ARNTL2_ENST00000395901.2_Missense_Mutation_p.L168F NM_020183.4 NP_064568.3 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear translocator-like 2 205 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) AGGAAAAATTCTCTTCGTTTC 0.289 17 45 --- --- --- --- BMP4 652 broad.mit.edu 37 14 54417158 54417158 + Silent SNP G G A TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr14:54417158G>A ENST00000245451.4 - 4 1212 c.819C>T c.(817-819)gtC>gtT p.V273V BMP4_ENST00000417573.1_Silent_p.V273V|BMP4_ENST00000559087.1_Silent_p.V273V|BMP4_ENST00000558984.1_Silent_p.V273V NM_001202.3 NP_001193.2 P12644 BMP4_HUMAN bone morphogenetic protein 4 273 activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway extracellular space|proteinaceous extracellular matrix BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1) 19 GGCCAAAGGTGACCAGGAGGG 0.617 14 35 --- --- --- --- CACNB1 782 broad.mit.edu 37 17 37341091 37341091 + Silent SNP C C G TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr17:37341091C>G ENST00000394303.3 - 8 882 c.675G>C c.(673-675)gtG>gtC p.V225V CACNB1_ENST00000344140.5_Silent_p.V270V|CACNB1_ENST00000394310.3_Silent_p.V225V NM_000723.4 NP_000714.3 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 subunit 225 axon guidance voltage-gated calcium channel complex breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) TGGAAGGCACCACGTCATAGG 0.602 5 54 --- --- --- --- TJP3 27134 broad.mit.edu 37 19 3731956 3731956 + Nonsense_Mutation SNP C C T TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr19:3731956C>T ENST00000541714.2 + 6 1099 c.637C>T c.(637-639)Cag>Tag p.Q213* TJP3_ENST00000539908.2_Nonsense_Mutation_p.Q177*|TJP3_ENST00000382008.3_Nonsense_Mutation_p.Q213*|TJP3_ENST00000589378.1_Nonsense_Mutation_p.Q222*|TJP3_ENST00000262968.9_Nonsense_Mutation_p.Q232*|TJP3_ENST00000587686.1_Nonsense_Mutation_p.Q232* NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 213 PDZ 2. tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) GCTGGGCAGTCAGATCTTCAT 0.582 24 61 --- --- --- --- PRKCSH 5589 broad.mit.edu 37 19 11559781 11559781 + Missense_Mutation SNP G G A TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr19:11559781G>A ENST00000252455.2 + 15 1654 c.1318G>A c.(1318-1320)Ggg>Agg p.G440R PRKCSH_ENST00000587327.1_Missense_Mutation_p.G437R|PRKCSH_ENST00000412601.1_Missense_Mutation_p.G437R|PRKCSH_ENST00000589838.1_Missense_Mutation_p.G440R|PRKCSH_ENST00000591462.1_Missense_Mutation_p.G437R|PRKCSH_ENST00000592741.1_Missense_Mutation_p.G447R NM_002743.2 NP_002734.2 P14314 GLU2B_HUMAN protein kinase C substrate 80K-H 440 PRKCSH. innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen calcium ion binding|protein kinase C binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3) 19 ACCCAAACTCGGGGGCTCTCC 0.647 4 132 --- --- --- --- F2RL3 9002 broad.mit.edu 37 19 17000463 17000463 + Missense_Mutation SNP C C T TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr19:17000463C>T ENST00000599210.1 + 2 185 c.185C>T c.(184-186)tCc>tTc p.S62F F2RL3_ENST00000248076.3_Silent_p.L63L Q96RI0 PAR4_HUMAN coagulation factor II (thrombin) receptor-like 3 0 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 CCCTGGAGCTCCCGGACAGCT 0.687 5 56 --- --- --- --- B3GNT8 374907 broad.mit.edu 37 19 41932284 41932284 + Missense_Mutation SNP C C T TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr19:41932284C>T ENST00000321702.2 - 3 853 c.400G>A c.(400-402)Ggt>Agt p.G134S B3GNT8_ENST00000601379.1_5'UTR NM_198540.2 NP_940942.1 Q7Z7M8 B3GN8_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 134 Poly-Gly. poly-N-acetyllactosamine biosynthetic process|protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2) 11 CTGCCACCACCTCCAGGCAGC 0.632 5 40 --- --- --- --- ACE2 59272 broad.mit.edu 37 X 15605910 15605910 + Missense_Mutation SNP G G C TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chrX:15605910G>C ENST00000427411.1 - 7 984 c.768C>G c.(766-768)atC>atG p.I256M ACE2_ENST00000252519.3_Missense_Mutation_p.I256M NM_021804.2 NP_068576.1 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 256 angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 32 Hepatocellular(33;0.183) Moexipril(DB00691) CAATTGGACTGATATAGGAAG 0.388 35 19 --- --- --- --- ZMYM3 9203 broad.mit.edu 37 X 70462905 70462905 + Missense_Mutation SNP G G C TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chrX:70462905G>C ENST00000373998.1 - 22 4123 c.3426C>G c.(3424-3426)aaC>aaG p.N1142K ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.N1154K|ZMYM3_ENST00000373988.1_Missense_Mutation_p.N1156K|ZMYM3_ENST00000353904.2_Missense_Mutation_p.N1154K|ZMYM3_ENST00000373984.3_Missense_Mutation_p.N1149K NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 1154 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) CCGTGAAAATGTTCACCATCC 0.458 15 14 --- --- --- --- FAM186B 84070 broad.mit.edu 37 12 49994194 49994203 + Frame_Shift_Del DEL GTGTCCTTGC GTGTCCTTGC - TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr12:49994194_49994203delGTGTCCTTGC ENST00000544141.1 - 4 1549_1558 c.950_959delGCAAGGACAC c.(949-960)agcaaggacactfs p.SKDT317fs FAM186B_ENST00000551047.1_Intron|PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000257894.2_Frame_Shift_Del_p.SKDT407fs Q8IYM0 F186B_HUMAN family with sequence similarity 186, member B 407 protein complex breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AAGGCTCTCAGTGTCCTTGCTGCCGAACAC 0.538 21 85 --- --- --- --- SCNN1B 6338 broad.mit.edu 37 16 23379203 23379205 + In_Frame_Del DEL ACT ACT - rs138004955 TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx de77175f-808b-4fb9-9413-5e99254a9325 0f5b9970-388e-406b-ba7a-bad4b7724b53 g.chr16:23379203_23379205delACT ENST00000343070.2 + 5 979_981 c.803_805delACT c.(802-807)cactat>cat p.Y269del SCNN1B_ENST00000568085.1_In_Frame_Del_p.Y269del|SCNN1B_ENST00000568923.1_In_Frame_Del_p.Y242del|SCNN1B_ENST00000307331.5_In_Frame_Del_p.Y314del NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 269 excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) TTCTACCCTCACTATGGCAACTG 0.537 36 133 --- --- --- ---