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 ASTN1 460 broad.mit.edu 37 1 177030386 177030386 + Missense_Mutation SNP G G C TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr1:177030386G>C ENST00000367654.3 - 2 510 c.299C>G c.(298-300)aCa>aGa p.T100R ASTN1_ENST00000424564.2_Missense_Mutation_p.T100R|ASTN1_ENST00000361833.2_Missense_Mutation_p.T100R|ASTN1_ENST00000367657.3_Missense_Mutation_p.T100R|ASTN1_ENST00000281881.3_5'UTR NM_004319.1 NP_004310.1 O14525 ASTN1_HUMAN astrotactin 1 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GATATCCTCTGTGTTCCCTGA 0.488 3 148 --- --- --- --- RIF1 55183 broad.mit.edu 37 2 152311552 152311552 + Missense_Mutation SNP A A G TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr2:152311552A>G ENST00000243326.5 + 21 2971 c.2488A>G c.(2488-2490)Att>Gtt p.I830V RIF1_ENST00000444746.2_Missense_Mutation_p.I830V|RIF1_ENST00000428287.2_Missense_Mutation_p.I830V|RIF1_ENST00000453091.2_Missense_Mutation_p.I830V|RIF1_ENST00000430328.2_Missense_Mutation_p.I830V Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) CCTCTTCACTATTGGCAACTC 0.383 3 137 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179408725 179408725 + Missense_Mutation SNP C C T TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr2:179408725C>T ENST00000589042.1 - 346 96370 c.96146G>A c.(96145-96147)aGc>aAc p.S32049N TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29481N|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S23109N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S22984N|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S23176N|TTN_ENST00000591111.1_Missense_Mutation_p.S30408N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 30408 Fibronectin type-III 132. 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) GCCCTGCTTGCTCCACGTTAT 0.493 27 132 --- --- --- --- ORMDL1 94101 broad.mit.edu 37 2 190640394 190640394 + Missense_Mutation SNP G G T TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr2:190640394G>T ENST00000325795.3 - 2 1009 c.223C>A c.(223-225)Cct>Act p.P75T ORMDL1_ENST00000409519.1_Missense_Mutation_p.P75T|ORMDL1_ENST00000392349.4_Missense_Mutation_p.P75T|ORMDL1_ENST00000392350.3_Missense_Mutation_p.P75T Q9P0S3 ORML1_HUMAN ORM1-like 1 (S. cerevisiae) 75 ceramide metabolic process endoplasmic reticulum membrane|integral to membrane breast(1)|urinary_tract(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889) CCCTGGTCAGGAGTTTCGAAA 0.378 21 51 --- --- --- --- CAMK1 8536 broad.mit.edu 37 3 9804662 9804662 + Missense_Mutation SNP A A T TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr3:9804662A>T ENST00000256460.3 - 5 542 c.365T>A c.(364-366)aTc>aAc p.I122N OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron NM_003656.4 NP_003647.1 Q14012 KCC1A_HUMAN calcium/calmodulin-dependent protein kinase I 122 Protein kinase. cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 12 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.0475) CACCTGGAAGATGAGGCGGCT 0.597 16 35 --- --- --- --- TMPRSS7 344805 broad.mit.edu 37 3 111793168 111793168 + Missense_Mutation SNP T T A TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr3:111793168T>A ENST00000452346.2 + 14 1695 c.1692T>A c.(1690-1692)ttT>ttA p.F564L TMPRSS7_ENST00000419127.1_Missense_Mutation_p.F438L Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 564 LDL-receptor class A 3. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 ACAGAACTTTTAAGTGTGGCA 0.368 8 92 --- --- --- --- ITGB5 3693 broad.mit.edu 37 3 124527930 124527930 + Missense_Mutation SNP C C G TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr3:124527930C>G ENST00000296181.4 - 9 1498 c.1202G>C c.(1201-1203)tGc>tCc p.C401S NM_002213.3 NP_002204.2 P18084 ITB5_HUMAN integrin, beta 5 401 cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) CCCATCTTGGCAGGTAGCAGT 0.473 22 129 --- --- --- --- UROC1 131669 broad.mit.edu 37 3 126207086 126207086 + Missense_Mutation SNP C C T TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr3:126207086C>T ENST00000290868.2 - 18 1798 c.1745G>A c.(1744-1746)cGc>cAc p.R582H UROC1_ENST00000383579.3_Missense_Mutation_p.R642H NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 582 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) GGTGGCTCCGCGACAGGCATC 0.612 6 175 --- --- --- --- TRIM42 287015 broad.mit.edu 37 3 140406842 140406842 + Missense_Mutation SNP G G A TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr3:140406842G>A ENST00000286349.3 + 3 1509 c.1318G>A c.(1318-1320)Gtg>Atg p.V440M NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 440 COS. intracellular zinc ion binding p.V440L(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GACTGGCCAGGTGGCATTCCT 0.517 6 57 --- --- --- --- KLHL6 89857 broad.mit.edu 37 3 183273149 183273149 + Splice_Site SNP C C G TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr3:183273149C>G ENST00000341319.3 - 1 328 c.293G>C c.(292-294)aGg>aCg p.R98T NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch-like family member 6 98 BTB. breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) GCATGCTGACCTGAAATAGTT 0.493 7 94 --- --- --- --- PPP3CA 5530 broad.mit.edu 37 4 102001731 102001731 + Missense_Mutation SNP T T A TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr4:102001731T>A ENST00000394854.3 - 8 1596 c.913A>T c.(913-915)Att>Ttt p.I305F PPP3CA_ENST00000323055.6_Missense_Mutation_p.I305F|PPP3CA_ENST00000507176.1_Missense_Mutation_p.I207F|PPP3CA_ENST00000394853.4_Missense_Mutation_p.I305F|PPP3CA_ENST00000523694.2_Missense_Mutation_p.I238F|PPP3CA_ENST00000512215.1_Intron NM_000944.4 NP_000935.1 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha isozyme 305 protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) GCTGAAAAAATTGTAATTAGA 0.313 23 35 --- --- --- --- ESM1 11082 broad.mit.edu 37 5 54281325 54281325 + Silent SNP C C G TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr5:54281325C>G ENST00000381405.4 - 1 166 c.21G>C c.(19-21)ctG>ctC p.L7L ESM1_ENST00000381403.4_Silent_p.L7L|ESM1_ENST00000598310.1_Intron NM_007036.4 NP_008967.1 Q9NQ30 ESM1_HUMAN endothelial cell-specific molecule 1 7 angiogenesis|regulation of cell growth extracellular region growth factor activity|insulin-like growth factor binding breast(1)|kidney(1)|large_intestine(4)|lung(4) 10 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116) Lung(15;0.23) GGAGCGTGGTCAGCAGCAAGA 0.597 3 65 --- --- --- --- SYNPO 11346 broad.mit.edu 37 5 150029504 150029504 + Missense_Mutation SNP G G A TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr5:150029504G>A ENST00000394243.1 + 3 2773 c.2399G>A c.(2398-2400)cGc>cAc p.R800H SYNPO_ENST00000307662.4_Missense_Mutation_p.R556H|SYNPO_ENST00000522122.1_Missense_Mutation_p.R800H|SYNPO_ENST00000519664.1_Missense_Mutation_p.R556H NM_001166208.1 NP_001159680.1 Q8N3V7 SYNPO_HUMAN synaptopodin 800 Pro-rich. positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2) 18 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGGTCCTGCGCCCAGAGCCC 0.667 32 160 --- --- --- --- DDX43 55510 broad.mit.edu 37 6 74111706 74111706 + Missense_Mutation SNP G G C TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr6:74111706G>C ENST00000370336.4 + 4 719 c.561G>C c.(559-561)aaG>aaC p.K187N DDX43_ENST00000539829.1_Missense_Mutation_p.K187N NM_018665.2 NP_061135.2 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 187 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 AAAAAACAAAGTGGGCAGGTC 0.358 52 80 --- --- --- --- MDFIC 29969 broad.mit.edu 37 7 114655934 114655934 + Nonsense_Mutation SNP C C A TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr7:114655934C>A ENST00000257724.3 + 5 1276 c.1013C>A c.(1012-1014)tCa>tAa p.S338* MDFIC_ENST00000393486.1_Nonsense_Mutation_p.S229* Q9P1T7 MDFIC_HUMAN MyoD family inhibitor domain containing 229 activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleolus|nucleus cyclin binding|Tat protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 8 TGTTGTGAATCATCAGACTGC 0.408 4 170 --- --- --- --- CSMD1 64478 broad.mit.edu 37 8 2806884 2806884 + Nonsense_Mutation SNP C C A TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr8:2806884C>A ENST00000520002.1 - 69 10897 c.10342G>T c.(10342-10344)Gga>Tga p.G3448* CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G3271*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G3270*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G3271*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G3447*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G3448* Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3448 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AAAGTAAATCCTCCTCTTTCA 0.318 14 32 --- --- --- --- CENPP 401541 broad.mit.edu 37 9 95375385 95375385 + Missense_Mutation SNP C C T TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr9:95375385C>T ENST00000375587.3 + 8 1336 c.821C>T c.(820-822)gCt>gTt p.A274V CENPP_ENST00000375579.3_Missense_Mutation_p.A101V|CENPP_ENST00000375576.1_Missense_Mutation_p.A88V NM_001012267.1 NP_001012267.1 Q6IPU0 CENPP_HUMAN centromere protein P 274 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase chromosome, centromeric region|cytosol|nucleoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1) 16 ATCGAAGCTGCTCTGGAAAGC 0.473 46 102 --- --- --- --- XPA 7507 broad.mit.edu 37 9 100447235 100447235 + Nonsense_Mutation SNP T T A TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr9:100447235T>A ENST00000375128.4 - 5 707 c.643A>T c.(643-645)Aaa>Taa p.K215* NM_000380.3 NP_000371.1 P23025 XPA_HUMAN xeroderma pigmentosum, complementation group A 215 nucleotide-excision repair, DNA damage removal nucleoplasm damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1) 11 Acute lymphoblastic leukemia(62;0.158) TTCTTCTGTTTCATTTTTTCT 0.353 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 5 41 --- --- --- --- IPMK 253430 broad.mit.edu 37 10 59975932 59975932 + Missense_Mutation SNP T T C TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr10:59975932T>C ENST00000373935.3 - 4 842 c.520A>G c.(520-522)Att>Gtt p.I174V NM_152230.4 NP_689416.1 Q8NFU5 IPMK_HUMAN inositol polyphosphate multikinase 174 nucleus ATP binding|inositol trisphosphate 6-kinase activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1) 22 AAGAACCCAATCTCTTCCATT 0.388 39 85 --- --- --- --- TLX1NB 100038246 broad.mit.edu 37 10 102849597 102849597 + Silent SNP G G A TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr10:102849597G>A ENST00000445873.1 - 3 1342 c.66C>T c.(64-66)ctC>ctT p.L22L NM_001085398.1 NP_001078867.1 P0CAT3 TLXNB_HUMAN TLX1 neighbor 22 CTTGGGAAAGGAGAGAGTGCT 0.662 8 11 --- --- --- --- MMP3 4314 broad.mit.edu 37 11 102710883 102710883 + Silent SNP A A G rs150024311 TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr11:102710883A>G ENST00000299855.5 - 6 1147 c.891T>C c.(889-891)gaT>gaC p.D297D NM_002422.3 NP_002413.1 P08254 MMP3_HUMAN matrix metallopeptidase 3 (stromelysin 1, progelatinase) 297 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) TGCTGACAGCATCAAAGGACA 0.493 4 134 --- --- --- --- SIAE 54414 broad.mit.edu 37 11 124539286 124539286 + Missense_Mutation SNP T T G TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr11:124539286T>G ENST00000263593.3 - 2 371 c.199A>C c.(199-201)Acc>Ccc p.T67P SIAE_ENST00000545756.1_Missense_Mutation_p.T32P Q9HAT2 SIAE_HUMAN sialic acid acetylesterase 67 extracellular region|lysosome carboxylesterase activity|sialate O-acetylesterase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 15 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243) TTCATGATGGTTTCCTGACCT 0.522 OREG0021460 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 64 --- --- --- --- SLITRK1 114798 broad.mit.edu 37 13 84454931 84454931 + Nonsense_Mutation SNP G G A TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr13:84454931G>A ENST00000377084.2 - 1 1597 c.712C>T c.(712-714)Cga>Tga p.R238* NM_001281503.1|NM_052910.1 NP_001268432.1|NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 238 LRRCT 1. integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CAGACCACTCGGCCGATCAGG 0.522 11 68 --- --- --- --- CDH24 64403 broad.mit.edu 37 14 23517622 23517622 + Missense_Mutation SNP T T C TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr14:23517622T>C ENST00000397359.3 - 13 2286 c.2027A>G c.(2026-2028)gAg>gGg p.E676G CDH24_ENST00000267383.5_Missense_Mutation_p.E676G|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000554034.1_Missense_Mutation_p.E638G|CDH24_ENST00000487137.2_Missense_Mutation_p.E638G NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 676 adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) TCGGACGTCCTCCTCCTCCAG 0.667 4 167 --- --- --- --- CGNL1 84952 broad.mit.edu 37 15 57837818 57837818 + Missense_Mutation SNP C C T TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr15:57837818C>T ENST00000281282.5 + 17 3607 c.3529C>T c.(3529-3531)Cgg>Tgg p.R1177W NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 1177 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) GCTCAGCAACCGGCGGCTGGA 0.602 3 32 --- --- --- --- MYH4 4622 broad.mit.edu 37 17 10350362 10350362 + Missense_Mutation SNP C C T TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr17:10350362C>T ENST00000255381.2 - 35 5247 c.5137G>A c.(5137-5139)Gcc>Acc p.A1713T CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1713 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CGTTCACTGGCATCCAGAAGC 0.488 41 66 --- --- --- --- KRTAP3-3 85293 broad.mit.edu 37 17 39150283 39150283 + Missense_Mutation SNP C C G TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr17:39150283C>G ENST00000391586.1 - 1 102 c.67G>C c.(67-69)Gac>Cac p.D23H NM_033185.2 NP_149441.1 Q9BYR6 KRA33_HUMAN keratin associated protein 3-3 23 3 X 5 AA repeats of C-C-X(3). keratin filament structural molecule activity lung(2)|prostate(2) 4 Breast(137;0.00043) CAGGATTTGTCAGAGGAGCAG 0.582 9 156 --- --- --- --- IMPACT 55364 broad.mit.edu 37 18 22008832 22008832 + Splice_Site SNP G G A TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr18:22008832G>A ENST00000284202.4 + 3 306 c.e3-1 NM_018439.3 NP_060909 Q9P2X3 IMPCT_HUMAN impact RWD domain protein endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) CTGCATTGTAGGTGATGCTGC 0.373 6 50 --- --- --- --- ZNF317 57693 broad.mit.edu 37 19 9271565 9271565 + Missense_Mutation SNP A A G TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr19:9271565A>G ENST00000247956.6 + 7 1549 c.1244A>G c.(1243-1245)aAg>aGg p.K415R ZNF317_ENST00000360385.3_Missense_Mutation_p.K383R NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 415 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 CACATCGTCAAGAAACCCGTG 0.502 24 42 --- --- --- --- MAST1 22983 broad.mit.edu 37 19 12978320 12978320 + Silent SNP C C T TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr19:12978320C>T ENST00000251472.4 + 19 2211 c.2172C>T c.(2170-2172)caC>caT p.H724H NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 724 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 TGTCGCAGCACGAGCCCAAGA 0.652 5 126 --- --- --- --- CPAMD8 27151 broad.mit.edu 37 19 17122423 17122423 + Missense_Mutation SNP C C A TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr19:17122423C>A ENST00000443236.1 - 4 584 c.553G>T c.(553-555)Gtg>Ttg p.V185L CPAMD8_ENST00000388925.4_Missense_Mutation_p.V138L|CTD-2528A14.1_ENST00000595134.1_RNA NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 138 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GGTCTGTACACAGGCTTGTCC 0.637 5 173 --- --- --- --- IFI30 10437 broad.mit.edu 37 19 18285887 18285887 + Missense_Mutation SNP C C A TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr19:18285887C>A ENST00000407280.3 + 2 345 c.170C>A c.(169-171)tCc>tAc p.S57Y PIK3R2_ENST00000593731.1_3'UTR NM_006332.3 NP_006323.2 P13284 GILT_HUMAN interferon, gamma-inducible protein 30 antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway cell junction|extracellular region|lysosome oxidoreductase activity, acting on a sulfur group of donors endometrium(1)|kidney(2)|large_intestine(1)|stomach(1) 5 CTGAAGAAGTCCAATGCACCG 0.582 13 31 --- --- --- --- TRIM28 10155 broad.mit.edu 37 19 59059687 59059687 + Silent SNP C C G TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr19:59059687C>G ENST00000253024.5 + 8 1417 c.1128C>G c.(1126-1128)ctC>ctG p.L376L TRIM28_ENST00000341753.6_Silent_p.L294L NM_005762.2 NP_005753.1 Q13263 TIF1B_HUMAN tripartite motif containing 28 376 Leucine zipper alpha helical coiled-coil region.|RBCC domain. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) ACCGGGCCCTCAAGATGATTG 0.542 3 88 --- --- --- --- OR13H1 347468 broad.mit.edu 37 X 130678204 130678204 + Missense_Mutation SNP C C T TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chrX:130678204C>T ENST00000338616.3 + 1 255 c.157C>T c.(157-159)Ccc>Tcc p.P53S NM_001004486.1 NP_001004486.1 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, member 1 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) TCACTTTGACCCCAACCTCCA 0.413 70 49 --- --- --- --- HEATR5B 54497 broad.mit.edu 37 2 37310452 37310453 + Frame_Shift_Ins INS - - T TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr2:37310452_37310453insT ENST00000233099.5 - 2 200_201 c.105_106insA c.(103-108)aaagtcfs p.V36fs HEATR5B_ENST00000354531.2_Frame_Shift_Ins_p.V36fs NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 36 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) GCAACCAAGACTTTATCAAGAA 0.371 31 58 --- --- --- --- XYLT1 64131 broad.mit.edu 37 16 17221576 17221577 + Frame_Shift_Ins INS - - T TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc4dea1-1dc2-4e7f-931b-4634ab147d2d 5281e78d-70d2-4c86-9c6f-9f73b6a45b9e g.chr16:17221576_17221577insT ENST00000261381.6 - 10 2253_2254 c.2169_2170insA c.(2167-2172)aaagtcfs p.V724fs NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 724 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 ATCTTGAAGACTTTTTTCGGCA 0.490 22 186 --- --- --- ---