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 pox qox pox_cutoff isArtifactMode oxoGCut RAD17 5884 broad.mit.edu 37 5 68682287 68682287 + Missense_Mutation SNP A A G TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr5:68682287A>G ENST00000509734.1 + 10 1600 c.922A>G c.(922-924)Aac>Gac p.N308D RAD17_ENST00000380774.3_Missense_Mutation_p.N308D|RAD17_ENST00000361732.2_Missense_Mutation_p.N297D|RAD17_ENST00000358030.2_Missense_Mutation_p.N132D|RAD17_ENST00000305138.4_Missense_Mutation_p.N297D|RAD17_ENST00000282891.6_Missense_Mutation_p.N211D|RAD17_ENST00000521422.1_Missense_Mutation_p.N132D|RAD17_ENST00000345306.6_Missense_Mutation_p.N297D|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354312.3_Missense_Mutation_p.N297D|RAD17_ENST00000354868.5_Missense_Mutation_p.N297D O75943 RAD17_HUMAN RAD17 homolog (S. pombe) 308 cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) TATAGAAGCTAACAAGGTAAG 0.284000 Other conserved DNA damage response genes 8 16 0 0 0.038147 0 0 NDST1 3340 broad.mit.edu 37 5 149901143 149901143 + Silent SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr5:149901143C>T ENST00000261797.6 + 2 829 c.327C>T c.(325-327)ttC>ttT p.F109F NDST1_ENST00000523767.1_Silent_p.F109F NM_001543.4 NP_001534.1 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 109 Heparan sulfate N-deacetylase 1. heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCAGCCGCTTCAAATACCGCA 0.612000 25 80 0 0 0.108266 0 0 GRIK5 2901 broad.mit.edu 37 19 42563637 42563637 + Missense_Mutation SNP G G C TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr19:42563637G>C ENST00000262895.3 - 5 550 c.551C>G c.(550-552)tCc>tGc p.S184C GRIK5_ENST00000301218.4_Missense_Mutation_p.S184C|GRIK5_ENST00000593562.1_Missense_Mutation_p.S184C NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 184 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) CGTCTCCTTGGAGATGAGGAA 0.607000 13 68 0 0 0.105934 0 0 GNAZ 2781 broad.mit.edu 37 22 23438508 23438508 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr22:23438508G>A ENST00000248996.4 + 2 1292 c.626G>A c.(625-627)cGc>cAc p.R209H RTDR1_ENST00000216036.4_Intron NM_002073.2 NP_002064.1 P19086 GNAZ_HUMAN guanine nucleotide binding protein (G protein), alpha z polypeptide 209 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) AGGTCAGAGCGCAAAAAGTGG 0.562000 4 160 0 0 0.009096 0 0 CCNJ 54619 broad.mit.edu 37 10 97817643 97817643 + Missense_Mutation SNP A A G TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr10:97817643A>G ENST00000265992.5 + 6 1131 c.764A>G c.(763-765)cAg>cGg p.Q255R ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.Q266R|ENTPD1-AS1_ENST00000451364.1_RNA|CCNJ_ENST00000534974.1_Missense_Mutation_p.Q255R|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.Q254R|ENTPD1-AS1_ENST00000454638.1_RNA NM_001134375.1|NM_001134376.1|NM_019084.4 NP_001127847.1|NP_001127848.1|NP_061957.2 Q5T5M9 CCNJ_HUMAN cyclin J 255 nucleus breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 11 Epithelial(162;6.1e-08)|all cancers(201;2.32e-06) GCAGGACCTCAGTCAGCGCAA 0.468000 31 17 0 0 0.144211 0 0 CDS2 8760 broad.mit.edu 37 20 5169814 5169814 + Missense_Mutation SNP A A C TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr20:5169814A>C ENST00000460006.1 + 11 1390 c.1083A>C c.(1081-1083)aaA>aaC p.K361N CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Missense_Mutation_p.K241N|CDS2_ENST00000535100.1_Missense_Mutation_p.K131N NM_003818.3 NP_003809.1 O95674 CDS2_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 361 phospholipid biosynthetic process integral to membrane|mitochondrial inner membrane phosphatidate cytidylyltransferase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1) 14 GTGGATTCAAACGAGCCTTTA 0.517000 23 41 0 0 0.091800 0 0 CASP8 841 broad.mit.edu 37 2 202131240 202131240 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr2:202131240G>A ENST00000358485.4 + 2 404 c.208G>A c.(208-210)Ggg>Agg p.G70R CASP8_ENST00000323492.7_Missense_Mutation_p.G11R|CASP8_ENST00000432109.2_Missense_Mutation_p.G11R|CASP8_ENST00000392258.3_Missense_Mutation_p.G11R|CASP8_ENST00000392266.3_Missense_Mutation_p.G11R|CASP8_ENST00000264274.9_Missense_Mutation_p.G11R|CASP8_ENST00000264275.5_Missense_Mutation_p.G11R|CASP8_ENST00000392259.2_Missense_Mutation_p.G11R NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 11 DED 1. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding p.G11R(1) breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 TTATGATATTGGGGAACAACT 0.403000 HNSCC(4;0.00038) 33 17 0 0 0.064281 0 0 SEC11A 23478 broad.mit.edu 37 15 85230875 85230875 + Missense_Mutation SNP C C G TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr15:85230875C>G ENST00000268220.7 - 3 932 c.292G>C c.(292-294)Gtc>Ctc p.V98L SEC11A_ENST00000558134.1_Missense_Mutation_p.V98L|SEC11A_ENST00000560266.1_Missense_Mutation_p.V98L|SEC11A_ENST00000455959.3_Missense_Mutation_p.V72L NM_014300.2 NP_055115.1 P67812 SC11A_HUMAN SEC11 homolog A (S. cerevisiae) 98 energy reserve metabolic process|regulation of insulin secretion|signal peptide processing endoplasmic reticulum membrane|integral to membrane|microsome protein binding|serine-type peptidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(143;0.199) ATCTTCAAGACTCGGTGAACT 0.343000 21 75 0 0 0.076483 0 0 TBC1D24 57465 broad.mit.edu 37 16 2546268 2546268 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr16:2546268G>A ENST00000567020.1 + 2 259 c.119G>A c.(118-120)cGc>cAc p.R40H TBC1D24_ENST00000434757.2_Missense_Mutation_p.R40H|TBC1D24_ENST00000293970.5_Missense_Mutation_p.R40H|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.R40H NM_020705.2 NP_065756.1 Q9ULP9 TBC24_HUMAN TBC1 domain family, member 24 40 neuron projection development cytoplasm protein binding|Rab GTPase activator activity endometrium(2)|kidney(4)|large_intestine(3)|lung(4) 13 CAGCTGGCGCGCCAGGGCTAC 0.642000 13 31 0 0 0.105934 0 0 TINF2 26277 broad.mit.edu 37 14 24709835 24709835 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr14:24709835G>A ENST00000399423.4 - 6 1181 c.851C>T c.(850-852)aCa>aTa p.T284I TINF2_ENST00000267415.7_Missense_Mutation_p.T284I|TINF2_ENST00000538777.1_Missense_Mutation_p.T70I|TINF2_ENST00000559019.1_3'UTR|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000540705.1_Missense_Mutation_p.T249I NM_012461.2 NP_036593.2 Q9BSI4 TINF2_HUMAN TERF1 (TRF1)-interacting nuclear factor 2 284 negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter protein binding|telomeric DNA binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(265;0.0185) CAGCATGACTGTGGGGCGCTC 0.552000 Congenital Dyskeratosis;Ataxia Pancytopenia syndrome 17 28 0 0 0.146539 0 0 LATS1 9113 broad.mit.edu 37 6 150005729 150005729 + Splice_Site SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr6:150005729C>T ENST00000543571.1 - 4 1044 c.e4-1 LATS1_ENST00000542747.1_Splice_Site|LATS1_ENST00000392273.3_Splice_Site|LATS1_ENST00000253339.5_Splice_Site NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) TGCACATTCCCTATGGTTATA 0.383000 18 33 0 0 0.038395 0 0 USP32 84669 broad.mit.edu 37 17 58257980 58257980 + Missense_Mutation SNP C C T rs17405746 TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr17:58257980C>T ENST00000300896.4 - 33 4761 c.4567G>A c.(4567-4569)Ggt>Agt p.G1523S USP32_ENST00000592339.1_Missense_Mutation_p.G1193S NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 1523 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) TGGCCCCCACCCAGAATTCCT 0.443000 12 22 0 0 0.132662 0 0 HK2 3099 broad.mit.edu 37 2 75116479 75116479 + Missense_Mutation SNP G G A rs148653106 TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr2:75116479G>A ENST00000290573.2 + 17 3083 c.2483G>A c.(2482-2484)cGg>cAg p.R828Q HK2_ENST00000409174.1_Missense_Mutation_p.R800Q NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 828 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 GTGGTGGCCCGGCGGGCAGCC 0.607000 10 17 0 0 0.058154 0 0 TPPP2 122664 broad.mit.edu 37 14 21499180 21499180 + Silent SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr14:21499180C>T ENST00000321760.6 + 3 331 c.183C>T c.(181-183)aaC>aaT p.N61N TPPP2_ENST00000460647.2_Silent_p.N61N|TPPP2_ENST00000530140.2_Silent_p.N61N|NDRG2_ENST00000403829.3_Intron NM_173846.4 NP_776245.2 P59282 TPPP2_HUMAN tubulin polymerization-promoting protein family member 2 61 cytoplasm endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) GGGCCAAGAACGCCCGAACCA 0.483000 12 23 0 0 0.093190 0 0 PTDSS1 9791 broad.mit.edu 37 8 97311963 97311963 + Nonsense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr8:97311963G>A ENST00000517309.1 + 6 968 c.642G>A c.(640-642)tgG>tgA p.W214* PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000455950.2_Nonsense_Mutation_p.W68*|PTDSS1_ENST00000522072.1_Nonsense_Mutation_p.W11* NM_014754.1 NP_055569.1 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 214 phosphatidylserine biosynthetic process integral to membrane transferase activity endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1) 29 Breast(36;6.18e-05) Phosphatidylserine(DB00144) CCGAGTGCTGGTGGGATCAAG 0.493000 47 68 0 0 0.139131 0 0 AKR7L 246181 broad.mit.edu 37 1 19596120 19596120 + RNA SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr1:19596120G>A ENST00000420396.2 - 0 507 AKR7L_ENST00000429712.1_RNA aldo-keto reductase family 7-like breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1) 6 CAAAGTGCCTGAGGCAGGGGA 0.602000 20 42 0 0 0.062417 0 0 NEK8 284086 broad.mit.edu 37 17 27067575 27067575 + Missense_Mutation SNP C C G TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr17:27067575C>G ENST00000268766.6 + 11 1546 c.1512C>G c.(1510-1512)atC>atG p.I504M AC010761.6_ENST00000584779.1_RNA NM_178170.2 NP_835464.1 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 504 cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Lung NSC(42;0.0158) TATGTGGTATCGATTCCTCCA 0.587000 28 43 0 0 0.125774 0 0 UGT2B10 7365 broad.mit.edu 37 4 69696413 69696413 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr4:69696413G>A ENST00000265403.7 + 6 1430 c.1403G>A c.(1402-1404)cGc>cAc p.R468H UGT2B10_ENST00000458688.2_Missense_Mutation_p.R384H NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 468 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 TTTGTCATGCGCCACAAAGGA 0.448000 39 60 0 0 0.092188 0 0 HRAS 3265 broad.mit.edu 37 11 534285 534285 + Missense_Mutation SNP C C A rs104894226 TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr11:534285C>A ENST00000417302.1 - 2 225 c.38G>T c.(37-39)gGt>gTt p.G13V HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 13 G -> C (in FCSS).|G -> D (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CTTGCCCACACCGCCGGCGCC 0.642000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 21 12 1.9806e-07 2.06961e-07 0.069288 1 0 MAP3K6 9064 broad.mit.edu 37 1 27682188 27682188 + Nonsense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr1:27682188G>A ENST00000493901.1 - 29 3999 c.3760C>T c.(3760-3762)Cga>Tga p.R1254* MAP3K6_ENST00000374040.3_Nonsense_Mutation_p.R1246*|MAP3K6_ENST00000357582.2_Nonsense_Mutation_p.R1254* NM_004672.3 NP_004663.3 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 6 1254 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) AGGTCATCTCGAGTGGCATAG 0.527000 9 71 0 0 0.069234 0 0 DNAJC15 29103 broad.mit.edu 37 13 43597852 43597852 + Silent SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr13:43597852C>T ENST00000379221.2 + 1 514 c.90C>T c.(88-90)gaC>gaT p.D30D DNAJC15_ENST00000474320.1_3'UTR NM_013238.2 NP_037370.2 Q9Y5T4 DJC15_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 15 30 integral to membrane heat shock protein binding endometrium(2)|kidney(1)|urinary_tract(1) 4 Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737) CAGACGCCGACGTCGACCAGC 0.642000 4 9 0 0 0.014758 0 0 KLKB1 3818 broad.mit.edu 37 4 187171481 187171481 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr4:187171481G>A ENST00000264690.6 + 7 870 c.683G>A c.(682-684)cGg>cAg p.R228Q KLKB1_ENST00000513864.1_Missense_Mutation_p.R228Q NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 228 Apple 3. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) TTTGTGTGTCGGACCATCTGC 0.463000 26 67 0 0 0.099896 0 0 HCN1 348980 broad.mit.edu 37 5 45262411 45262411 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr5:45262411G>A ENST00000303230.4 - 8 2342 c.2285C>T c.(2284-2286)aCg>aTg p.T762M NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 762 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 ATTTTTCGGCGTGGAGCTGCC 0.647000 12 29 0 0 0.093190 0 0 GRIN2A 2903 broad.mit.edu 37 16 9943686 9943686 + Missense_Mutation SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr16:9943686C>T ENST00000396573.2 - 6 1564 c.1255G>A c.(1255-1257)Gtg>Atg p.V419M GRIN2A_ENST00000396575.2_Missense_Mutation_p.V419M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V262M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V419M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V419M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V419M NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 419 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATGTCTTCCACGATGACGAAT 0.572000 24 45 0 0 0.099896 0 0 NPHP3 27031 broad.mit.edu 37 3 132423041 132423041 + Splice_Site SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr3:132423041C>T ENST00000326682.8 - 9 1601 c.e9+1 NPHP3_ENST00000337331.5_Splice_Site Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CAAGCACTTACTTTCTCAAAT 0.343000 37 66 0 0 0.086207 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098956 178098956 + Missense_Mutation SNP A A T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr2:178098956A>T ENST00000397062.3 - 2 643 c.89T>A c.(88-90)cTt>cAt p.L30H NFE2L2_ENST00000464747.1_Missense_Mutation_p.L14H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L14H|NFE2L2_ENST00000423513.1_Missense_Mutation_p.L14H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.L14H NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 30 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L30R(2)|p.L30H(1) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) ACTTACTCCAAGATCTATATC 0.363000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 19 15 0 0 0.043863 0 0 PYGB 5834 broad.mit.edu 37 20 25239873 25239873 + Splice_Site SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr20:25239873C>T ENST00000216962.4 + 2 354 c.243_splice c.e2-1 p.R82_splice NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain 82 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 Pyridoxal Phosphate(DB00114) GCTTCCTCAGCGCATTTATTA 0.478000 10 27 0 0 0.069234 0 0 PTCHD4 442213 broad.mit.edu 37 6 47846396 47846396 + Silent SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr6:47846396G>A ENST00000339488.4 - 3 2217 c.2184C>T c.(2182-2184)caC>caT p.H728H NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 728 integral to membrane hedgehog receptor activity GTGGTGCACAGTGGTCAATGG 0.438000 8 11 0 0 0.047766 0 0 C7orf57 136288 broad.mit.edu 37 7 48080963 48080963 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr7:48080963G>A ENST00000348904.3 + 3 300 c.88G>A c.(88-90)Gag>Aag p.E30K C7orf57_ENST00000430738.1_Missense_Mutation_p.E75K|C7orf57_ENST00000539619.1_Missense_Mutation_p.E30K|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000420324.1_Missense_Mutation_p.E75K NM_001100159.2 NP_001093629.1 Q8NEG2 CG057_HUMAN chromosome 7 open reading frame 57 30 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 9 GAAGCGCTCTGAGAAGGCCGT 0.587000 9 25 0 0 0.058154 0 0 ZFHX3 463 broad.mit.edu 37 16 72993515 72993515 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr16:72993515G>A ENST00000268489.5 - 2 1202 c.530C>T c.(529-531)gCg>gTg p.A177V ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 177 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CTTGCCCCCCGCGCCAGGGAG 0.637000 12 44 0 0 0.080935 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84609395 84609395 + Missense_Mutation SNP C C G TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr9:84609395C>G ENST00000344803.2 + 4 4057 c.4010C>G c.(4009-4011)tCc>tGc p.S1337C NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 AGCAAATCTTCCCCAACCTTG 0.478000 5 9 0 0 0.021553 0 0 GRIA1 2890 broad.mit.edu 37 5 153149755 153149755 + Missense_Mutation SNP A A T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr5:153149755A>T ENST00000285900.5 + 13 2393 c.2050A>T c.(2050-2052)Atg>Ttg p.M684L GRIA1_ENST00000521843.2_Missense_Mutation_p.M615L|GRIA1_ENST00000448073.4_Missense_Mutation_p.M694L|GRIA1_ENST00000518783.1_Missense_Mutation_p.M694L|GRIA1_ENST00000340592.5_Missense_Mutation_p.M684L|GRIA1_ENST00000518142.1_Missense_Mutation_p.M604L NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 684 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GTTTGAGAAGATGTGGACATA 0.463000 33 62 0 0 0.050027 0 0 DNTTIP1 116092 broad.mit.edu 37 20 44439538 44439538 + Silent SNP C C T rs148278422 TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr20:44439538C>T ENST00000372622.3 + 12 878 c.810C>T c.(808-810)atC>atT p.I270I NM_052951.2 NP_443183.1 Q9H147 TDIF1_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 1 270 nucleus breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1) 9 Myeloproliferative disorder(115;0.0122) ACCTCCTCATCGAGGAGGACA 0.507000 14 28 0 0 0.132662 0 0 ZNF318 24149 broad.mit.edu 37 6 43306213 43306213 + Missense_Mutation SNP C C A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr6:43306213C>A ENST00000361428.2 - 10 5600 c.5523G>T c.(5521-5523)ttG>ttT p.L1841F ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1841 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TTCCTGTCATCAATTTATTGG 0.378000 28 39 2.48779e-11 2.69029e-11 0.108266 1 0 EPN1 29924 broad.mit.edu 37 19 56203254 56203254 + Silent SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr19:56203254C>T ENST00000411543.2 + 7 1702 c.1155C>T c.(1153-1155)ccC>ccT p.P385P EPN1_ENST00000270460.6_Silent_p.P299P|EPN1_ENST00000085079.7_Silent_p.P274P NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 299 Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) GGGGCGGCCCCCCTGTCCCTC 0.756000 9 29 0 0 0.058154 0 0 DNHD1 144132 broad.mit.edu 37 11 6593070 6593070 + Missense_Mutation SNP T T A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr11:6593070T>A ENST00000254579.6 + 43 14680 c.14116T>A c.(14116-14118)Tcg>Acg p.S4706T DNHD1_ENST00000527990.2_Missense_Mutation_p.S4706T NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 4706 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GACTGTGTACTCGTGTCCTGT 0.627000 13 54 0 0 0.119110 0 0 NPEPPS 9520 broad.mit.edu 37 17 45663002 45663002 + Missense_Mutation SNP A A G TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr17:45663002A>G ENST00000322157.4 + 6 1022 c.785A>G c.(784-786)gAt>gGt p.D262G NPEPPS_ENST00000544660.1_Missense_Mutation_p.D182G|NPEPPS_ENST00000530173.1_Missense_Mutation_p.D258G|NPEPPS_ENST00000525037.1_3'UTR NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 262 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 AGGTCAAAAGATGGTGTGTGT 0.418000 45 101 0 0 0.139131 0 0 HLA-DQA2 3118 broad.mit.edu 37 6 32714066 32714066 + Silent SNP C C T rs143176293 TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr6:32714066C>T ENST00000374940.3 + 4 765 c.663C>T c.(661-663)tgC>tgT p.C221C NM_020056.4 NP_064440.1 P01906 DQA2_HUMAN major histocompatibility complex, class II, DQ alpha 2 221 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity endometrium(2)|large_intestine(3)|lung(7)|skin(1) 13 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTTTGGTCTGCGCCCTGGGGT 0.552000 28 57 0 0 0.134883 0 0 RSG1 79363 broad.mit.edu 37 1 16559457 16559457 + Silent SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr1:16559457G>A ENST00000375599.3 - 3 740 c.321C>T c.(319-321)gtC>gtT p.V107V NM_030907.3 NP_112169.2 Q9BU20 RSG1_HUMAN REM2 and RAB-like small GTPase 1 107 Small GTPase-like. cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction cilium|microtubule basal body GTP binding large_intestine(2)|lung(2)|pancreas(1)|prostate(1) 6 GAAACATGACGACACGGCTGC 0.577000 22 58 0 0 0.099896 0 0 NBAS 51594 broad.mit.edu 37 2 15557650 15557650 + Splice_Site SNP C C A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr2:15557650C>A ENST00000281513.5 - 24 2789 c.e24+1 NBAS_ENST00000441750.1_Intron NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 ATAAAACCTACACTATTCATC 0.323000 13 20 0.000219431 0.000224254 0.119110 1 0 MARK2 2011 broad.mit.edu 37 11 63668102 63668102 + Silent SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr11:63668102G>A ENST00000402010.2 + 9 1419 c.840G>A c.(838-840)ctG>ctA p.L280L MARK2_ENST00000509502.2_Silent_p.L247L|MARK2_ENST00000425897.2_Silent_p.L247L|MARK2_ENST00000377809.4_Silent_p.L280L|MARK2_ENST00000361128.5_Silent_p.L280L|MARK2_ENST00000377810.3_Silent_p.L247L|MARK2_ENST00000315032.8_Silent_p.L280L|MARK2_ENST00000513765.2_Silent_p.L247L|MARK2_ENST00000350490.7_Silent_p.L280L|MARK2_ENST00000508192.1_Silent_p.L280L|MARK2_ENST00000502399.3_Silent_p.L280L|MARK2_ENST00000413835.2_Silent_p.L280L|MARK2_ENST00000408948.3_Silent_p.L247L NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 280 Protein kinase. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 GTGAAAACCTGCTTAAGAAAT 0.507000 97 180 0 0 0.139131 0 0 DOPEY1 23033 broad.mit.edu 37 6 83845504 83845504 + Missense_Mutation SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr6:83845504C>T ENST00000349129.2 + 20 3297 c.3037C>T c.(3037-3039)Cgt>Tgt p.R1013C DOPEY1_ENST00000369739.3_Missense_Mutation_p.R1004C|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R994C NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1013 protein transport p.R1013C(1) breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TTCAGTACAGCGTGTACAAGC 0.433000 40 62 0 0 0.104719 0 0 YBX1 4904 broad.mit.edu 37 1 43166568 43166568 + Missense_Mutation SNP A A G TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr1:43166568A>G ENST00000321358.7 + 7 996 c.857A>G c.(856-858)aAt>aGt p.N286S NM_004559.3 NP_004550.2 P67809 YBOX1_HUMAN Y box binding protein 1 286 CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2) 16 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CGCAACTTCAATTACCGACGC 0.527000 12 33 0 0 0.105934 0 0 SNRNP48 154007 broad.mit.edu 37 6 7601664 7601664 + Missense_Mutation SNP G G A rs141422613 TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr6:7601664G>A ENST00000342415.5 + 5 561 c.502G>A c.(502-504)Gta>Ata p.V168I NM_152551.3 NP_689764.3 Q6IEG0 SNR48_HUMAN small nuclear ribonucleoprotein 48kDa (U11/U12) 168 mRNA processing cytoplasm|U12-type spliceosomal complex metal ion binding kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 CTATGATTTCGTAGTTGAGGA 0.378000 23 32 0 0 0.069288 0 0 TP53BP1 7158 broad.mit.edu 37 15 43720231 43720231 + Missense_Mutation SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr15:43720231C>T ENST00000263801.3 - 18 4048 c.3796G>A c.(3796-3798)Gaa>Aaa p.E1266K TP53BP1_ENST00000450115.2_Missense_Mutation_p.E1271K|TP53BP1_ENST00000382039.3_Missense_Mutation_p.E1271K|TP53BP1_ENST00000382044.4_Missense_Mutation_p.E1271K NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 1266 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) ACTTTTCTTTCTACTTCTGTT 0.383000 Other conserved DNA damage response genes 39 90 0 0 0.104719 0 0 SNRPA 6626 broad.mit.edu 37 19 41268965 41268965 + Missense_Mutation SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr19:41268965C>T ENST00000243563.3 + 4 1136 c.586C>T c.(586-588)Ccc>Tcc p.P196S NM_004596.4 NP_004587.1 P09012 SNRPA_HUMAN small nuclear ribonucleoprotein polypeptide A 196 Pro-rich. nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) AGGACAGATGCCCCCTGCCCA 0.607000 12 42 0 0 0.093190 0 0 SEPT12 124404 broad.mit.edu 37 16 4833992 4833992 + Missense_Mutation SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr16:4833992C>T ENST00000268231.8 - 5 715 c.452G>A c.(451-453)cGc>cAc p.R151H SEPT12_ENST00000396693.5_Intron NM_144605.4 NP_653206.2 Q8IYM1 SEP12_HUMAN septin 12 151 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3) 23 TGGGATGTGGCGCTGGCGGGT 0.642000 4 107 0 0 0.014758 0 0 GRM3 2913 broad.mit.edu 37 7 86415775 86415775 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr7:86415775G>A ENST00000361669.2 + 3 1766 c.667G>A c.(667-669)Ggg>Agg p.G223R GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.G95R|GRM3_ENST00000394720.2_Missense_Mutation_p.G221R|GRM3_ENST00000439827.1_Missense_Mutation_p.G223R|AC005009.2_ENST00000452471.1_RNA|AC005009.2_ENST00000418031.1_RNA NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 223 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GGGTGATTACGGGGAGACAGG 0.612000 26 42 0 0 0.099896 0 0 SETD2 29072 broad.mit.edu 37 3 47163754 47163754 + Nonsense_Mutation SNP G G C TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr3:47163754G>C ENST00000409792.3 - 3 2414 c.2372C>G c.(2371-2373)tCa>tGa p.S791* NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 791 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) GTATATGTCTGAATCTTTGGT 0.358000 """N, F, S, Mis""" clear cell renal carcinoma 24 47 0 0 0.091800 0 0 SEC14L4 284904 broad.mit.edu 37 22 30891410 30891410 + Missense_Mutation SNP G G A rs145663781 byFrequency TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr22:30891410G>A ENST00000392772.2 - 5 369 c.92C>T c.(91-93)tCg>tTg p.S31L SEC14L4_ENST00000540456.1_Missense_Mutation_p.S70L|SEC14L4_ENST00000255858.7_Missense_Mutation_p.S85L|SEC14L4_ENST00000381982.3_Missense_Mutation_p.S85L Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 85 integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) AAGACCACCCGAGTCATACAG 0.582000 25 44 0 0 0.083992 0 0 TIAM1 7074 broad.mit.edu 37 21 32639148 32639148 + Silent SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr21:32639148C>T ENST00000286827.3 - 5 612 c.141G>A c.(139-141)gtG>gtA p.V47V TIAM1_ENST00000541036.1_Silent_p.V47V|TIAM1_ENST00000469412.1_Intron NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 47 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 TCCTGTGGATCACCTTCCCCG 0.627000 7 30 0 0 0.029380 0 0 KIAA0930 23313 broad.mit.edu 37 22 45607844 45607844 + Missense_Mutation SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr22:45607844C>T ENST00000336156.4 - 2 274 c.209G>A c.(208-210)gGg>gAg p.G70E KIAA0930_ENST00000443310.3_Missense_Mutation_p.G52E|KIAA0930_ENST00000391627.2_Missense_Mutation_p.G36E|KIAA0930_ENST00000251993.7_Missense_Mutation_p.G75E NM_001009880.1 NP_001009880.1 Q6ICG6 K0930_HUMAN KIAA0930 70 protein binding endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1) 15 CACCTTCCTCCCGTCTGCACC 0.617000 37 74 0 0 0.092188 0 0 ELF4 2000 broad.mit.edu 37 X 129201147 129201147 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chrX:129201147G>A ENST00000308167.5 - 9 1920 c.1541C>T c.(1540-1542)tCt>tTt p.S514F ELF4_ENST00000335997.7_Missense_Mutation_p.S514F NM_001421.3 NP_001412.1 Q99607 ELF4_HUMAN E74-like factor 4 (ets domain transcription factor) 514 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 22 AGGGGGCTGAGAGCTGGGCCC 0.642000 T ERG AML 24 10 0 0 0.076483 0 0 IQGAP2 10788 broad.mit.edu 37 5 75991296 75991296 + Silent SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr5:75991296G>A ENST00000274364.6 + 32 4308 c.4011G>A c.(4009-4011)acG>acA p.T1337T IQGAP2_ENST00000502745.1_Silent_p.T833T|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000379730.3_Silent_p.T839T|IQGAP2_ENST00000396234.3_Silent_p.T833T NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1337 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) ACCATGCCACGGACATGGTGA 0.433000 12 27 0 0 0.080935 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826253 43826253 + Missense_Mutation SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr12:43826253C>T ENST00000389420.3 - 21 2949 c.2950G>A c.(2950-2952)Gga>Aga p.G984R ADAMTS20_ENST00000395541.2_Missense_Mutation_p.G138R|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G984R NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 984 TSP type-1 4. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CTTTCCCCTCCTCCACAACTC 0.368000 18 35 0 0 0.055883 0 0 MPP4 58538 broad.mit.edu 37 2 202509991 202509991 + Missense_Mutation SNP T T A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr2:202509991T>A ENST00000409474.3 - 22 2063 c.1856A>T c.(1855-1857)cAg>cTg p.Q619L MPP4_ENST00000447335.2_Missense_Mutation_p.Q612L|MPP4_ENST00000428900.2_Missense_Mutation_p.Q595L|MPP4_ENST00000409143.1_Missense_Mutation_p.Q561L|MPP4_ENST00000396886.3_Missense_Mutation_p.Q544L|MPP4_ENST00000359962.5_Missense_Mutation_p.Q619L|MPP4_ENST00000315506.7_Missense_Mutation_p.Q575L NM_033066.2 NP_149055.1 Q96JB8 MPP4_HUMAN membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) 619 cytoplasm protein binding kidney(1)|lung(11) 12 AGGCTCCTCCTGAGCCTTCTG 0.443000 20 8 0 0 0.062417 0 0 UGT3A1 133688 broad.mit.edu 37 5 35955843 35955843 + Missense_Mutation SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr5:35955843C>T ENST00000274278.3 - 6 1556 c.1199G>A c.(1198-1200)cGa>cAa p.R400Q UGT3A1_ENST00000507113.1_Missense_Mutation_p.R366Q|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Missense_Mutation_p.R400Q NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 400 integral to membrane glucuronosyltransferase activity p.R400L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGCTACTACTCGGACCATGTT 0.483000 23 50 0 0 0.062417 0 0 AURKC 6795 broad.mit.edu 37 19 57743501 57743501 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr19:57743501G>A ENST00000302804.7 + 3 391 c.205G>A c.(205-207)Gtg>Atg p.V69M AURKC_ENST00000598785.1_Missense_Mutation_p.V35M|AURKC_ENST00000415300.2_Missense_Mutation_p.V50M|AURKC_ENST00000448930.1_Missense_Mutation_p.V35M|AURKC_ENST00000599062.1_Missense_Mutation_p.V66M NM_001015878.1 NP_001015878.1 Q9UQB9 AURKC_HUMAN aurora kinase C 69 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) CCATTTCATTGTGGCCCTGAA 0.542000 34 30 0 0 0.054565 0 0 LRP1 4035 broad.mit.edu 37 12 57601972 57601972 + Missense_Mutation SNP A A G TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr12:57601972A>G ENST00000243077.3 + 77 12477 c.12011A>G c.(12010-12012)cAc>cGc p.H4004R NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4004 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GACGAGCCCCACGCCATTGTG 0.657000 7 12 0 0 0.058154 0 0 ANO5 203859 broad.mit.edu 37 11 22276979 22276979 + Missense_Mutation SNP G G C TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr11:22276979G>C ENST00000324559.8 + 13 1560 c.1243G>C c.(1243-1245)Gtg>Ctg p.V415L NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 415 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ATGGGACCTGGTGGACTTTGA 0.363000 52 82 0 0 0.139131 0 0 CACNA1I 8911 broad.mit.edu 37 22 40080509 40080509 + Silent SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr22:40080509G>A ENST00000401624.1 + 36 6033 c.6033G>A c.(6031-6033)ccG>ccA p.P2011P CACNA1I_ENST00000404898.1_Intron|CACNA1I_ENST00000402142.3_Intron|CACNA1I_ENST00000400164.3_Intron|CACNA1I_ENST00000336649.4_Intron|CACNA1I_ENST00000407673.1_Silent_p.P1976P Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 0 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GGCAGGTACCGACACCTCCCA 0.632000 6 7 0 0 0.029380 0 0 ATP4B 496 broad.mit.edu 37 13 114304774 114304774 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr13:114304774G>A ENST00000335288.4 - 6 702 c.661C>T c.(661-663)Ccc>Tcc p.P221S NM_000705.3 NP_000696.1 P51164 ATP4B_HUMAN ATPase, H+/K+ exchanging, beta polypeptide 221 ATP biosynthetic process integral to membrane|plasma membrane hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.171) Rabeprazole(DB01129) GTGCCGTTGGGAGGGTAGTAC 0.622000 24 37 0 0 0.108266 0 0 MARK4 57787 broad.mit.edu 37 19 45774927 45774927 + Silent SNP C C T rs140158030 TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr19:45774927C>T ENST00000300843.4 + 8 1044 c.747C>T c.(745-747)ctC>ctT p.L249L MARK4_ENST00000262891.4_Silent_p.L249L NM_031417.3 NP_113605.2 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 249 Protein kinase. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) TGTACACCCTCGTCAGCGGCT 0.672000 68 42 0 0 0.139131 0 0 NF1 4763 broad.mit.edu 37 17 29657375 29657375 + Nonsense_Mutation SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr17:29657375C>T ENST00000358273.4 + 39 6054 c.5671C>T c.(5671-5673)Cag>Tag p.Q1891* NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1870*|NF1_ENST00000581113.2_3'UTR NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1891 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3)|p.Q1891*(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AATCGAGGGCCAGTTACTAGA 0.398000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 5 69 0 0 0.014758 0 0 TIAM1 7074 broad.mit.edu 37 21 32639127 32639127 + Silent SNP C C G TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr21:32639127C>G ENST00000286827.3 - 5 633 c.162G>C c.(160-162)gtG>gtC p.V54V TIAM1_ENST00000541036.1_Silent_p.V54V|TIAM1_ENST00000469412.1_Intron NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 54 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 ATCGGGTGCTCACTTCGGAGT 0.637000 10 31 0 0 0.069234 0 0 ARRDC3 57561 broad.mit.edu 37 5 90670932 90670932 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr5:90670932G>A ENST00000265138.3 - 5 943 c.677C>T c.(676-678)gCa>gTa p.A226V NM_020801.2 NP_065852.1 Q96B67 ARRD3_HUMAN arrestin domain containing 3 226 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 18 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) GTAAATGGCTGCCTTTGGCAC 0.418000 20 38 0 0 0.062417 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072531 17072531 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr22:17072531G>A ENST00000359963.3 - 1 1169 c.910C>T c.(910-912)Ctc>Ttc p.L304F NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 304 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GCCAGTGTGAGGGTCTCCTCG 0.512000 53 81 0 0 0.139131 0 0 PAN3 255967 broad.mit.edu 37 13 28771372 28771372 + Silent SNP A A T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr13:28771372A>T ENST00000380958.3 + 5 893 c.741A>T c.(739-741)ggA>ggT p.G247G PAN3_ENST00000399613.1_Intron NM_175854.7 NP_787050.6 Q58A45 PAN3_HUMAN PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 247 Interaction with polyadenylate-binding protein. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) TTCCGATGGGATCAAAGGCAC 0.493000 5 7 0 0 0.021553 0 0 CACNA1H 8912 broad.mit.edu 37 16 1265063 1265063 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr16:1265063G>A ENST00000348261.5 + 28 5269 c.5021G>A c.(5020-5022)cGt>cAt p.R1674H CACNA1H_ENST00000565831.1_Missense_Mutation_p.R1668H|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R1668H NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1674 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) TTTGGGTTCCGTCGGTTCTTC 0.622000 7 10 0 0 0.047766 0 0 OTOGL 283310 broad.mit.edu 37 12 80707395 80707395 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr12:80707395G>A ENST00000458043.2 + 30 3569 c.3563G>A c.(3562-3564)aGa>aAa p.R1188K OTOGL_ENST00000547103.1_Missense_Mutation_p.R1188K NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 ATTCATTGGAGATCATCTACT 0.348000 12 57 0 0 0.080935 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887606 12887606 + Missense_Mutation SNP C C G rs58074988 TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr1:12887606C>G ENST00000535591.1 - 3 446 c.251G>C c.(250-252)tGc>tCc p.C84S NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 84 p.C84S(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATTGAGGAAGCACCCATGGGC 0.483000 6 194 0 0 0.047766 0 0 HRAS 3265 broad.mit.edu 37 11 534291 534291 + Missense_Mutation SNP G G T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr11:534291G>T ENST00000417302.1 - 2 219 c.32C>A c.(31-33)gCc>gAc p.A11D HRAS_ENST00000451590.1_Missense_Mutation_p.A11D|HRAS_ENST00000397594.1_Missense_Mutation_p.A11D|HRAS_ENST00000397596.2_Missense_Mutation_p.A11D|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.A11D NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 11 activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CACACCGCCGGCGCCCACCAC 0.652000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 19 11 3.99206e-14 4.41978e-14 0.043863 1 0 ZNF347 84671 broad.mit.edu 37 19 53643919 53643919 + Missense_Mutation SNP C C A rs150489253 byFrequency TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr19:53643919C>A ENST00000452676.2 - 5 2591 c.2165G>T c.(2164-2166)cGt>cTt p.R722L ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R722L|ZNF347_ENST00000334197.7_Missense_Mutation_p.R721L NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 721 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) TAGGCTTGAACGGACACTAAA 0.423000 41 168 4.16155e-14 4.55322e-14 0.104719 1 0 SIGLEC1 6614 broad.mit.edu 37 20 3684688 3684688 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr20:3684688G>A ENST00000344754.4 - 4 756 c.757C>T c.(757-759)Ctt>Ttt p.L253F SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L253F NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 253 Ig-like C2-type 2. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 TCACCTGGAAGGATGTTCCTC 0.577000 18 38 0 0 0.033300 0 0 FAM47B 170062 broad.mit.edu 37 X 34962352 34962352 + Nonsense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chrX:34962352G>A ENST00000329357.5 + 1 1440 c.1404G>A c.(1402-1404)tgG>tgA p.W468* NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 468 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 ACTTCAAGTGGGCTGGAGACC 0.433000 4 45 0 0 0.014758 0 0 TDRD10 126668 broad.mit.edu 37 1 154516537 154516537 + Missense_Mutation SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr1:154516537C>T ENST00000368482.4 + 9 1440 c.602C>T c.(601-603)aCg>aTg p.T201M TDRD10_ENST00000368480.3_Missense_Mutation_p.T201M|TDRD10_ENST00000479937.1_3'UTR NM_001098475.1|NM_182499.3 NP_001091945.1|NP_872305.3 Q5VZ19 TDR10_HUMAN tudor domain containing 10 201 nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CTGCTGGTGACGAGTATCGTC 0.622000 25 48 0 0 0.108266 0 0 TTC3 7267 broad.mit.edu 37 21 38538338 38538338 + Silent SNP C C G TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr21:38538338C>G ENST00000399017.2 + 33 6569 c.3822C>G c.(3820-3822)gtC>gtG p.V1274V TTC3_ENST00000355666.1_Silent_p.V1274V|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Silent_p.V1274V NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1274 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) CCAAAGGGGTCTCTTCTAATT 0.458000 30 53 0 0 0.134883 0 0 NEDD4L 23327 broad.mit.edu 37 18 55711935 55711935 + Missense_Mutation SNP G G A rs12968145 TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr18:55711935G>A ENST00000382850.4 + 1 156 c.43G>A c.(43-45)Gac>Aac p.D15N NEDD4L_ENST00000256832.7_5'UTR|NEDD4L_ENST00000256830.9_Missense_Mutation_p.D15N|NEDD4L_ENST00000400345.3_Missense_Mutation_p.D15N|NEDD4L_ENST00000589054.1_Missense_Mutation_p.D15N|NEDD4L_ENST00000356462.6_Missense_Mutation_p.D15N NM_015277.5 NP_056092.2 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 15 C2. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 ACTTTCCGAAGACGAGGTGAG 0.741000 5 23 0 0 0.029380 0 0 ZNF461 92283 broad.mit.edu 37 19 37130912 37130912 + Missense_Mutation SNP G G T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr19:37130912G>T ENST00000588268.1 - 6 562 c.335C>A c.(334-336)tCt>tAt p.S112Y ZNF461_ENST00000360357.4_Missense_Mutation_p.S89Y|ZNF461_ENST00000540605.2_5'UTR NM_153257.2 NP_694989.2 Q8TAF7 ZN461_HUMAN zinc finger protein 461 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2) 29 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) CCTTTTTGGAGATAACTTCTG 0.348000 12 85 2.27111e-07 2.34681e-07 0.093190 1 0 FNDC3B 64778 broad.mit.edu 37 3 172003763 172003763 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr3:172003763G>A ENST00000336824.4 + 7 937 c.838G>A c.(838-840)Gag>Aag p.E280K FNDC3B_ENST00000416957.1_Missense_Mutation_p.E280K|FNDC3B_ENST00000415807.2_Missense_Mutation_p.E280K NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 280 Fibronectin type-III 1. endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) TTCGGGAATAGAGAAACCACA 0.353000 15 38 0 0 0.049695 0 0 KIF1B 23095 broad.mit.edu 37 1 10425476 10425477 + Frame_Shift_Ins INS - - C rs78662124 TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr1:10425476_10425477insC ENST00000377086.1 + 43 4724_4725 c.4522_4523insC c.(4522-4524)ccgfs p.P1508fs KIF1B_ENST00000263934.6_Frame_Shift_Ins_p.P1462fs|KIF1B_ENST00000377081.1_Frame_Shift_Ins_p.P1508fs O60333 KIF1B_HUMAN kinesin family member 1B 1508 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 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) GGTGGAAAAAACCCGCCACTTT 0.505 11 32 --- --- --- --- ITSN2 50618 broad.mit.edu 37 2 24471709 24471710 + Frame_Shift_Ins INS - - T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr2:24471709_24471710insT ENST00000355123.4 - 26 3605_3606 c.3162_3163insA c.(3160-3165)aactgafs p.N*1054fs ITSN2_ENST00000406921.3_Frame_Shift_Ins_p.N*1054fs|ITSN2_ENST00000361999.3_Frame_Shift_Ins_p.N*1027fs NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 1054 SH3 4. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TACGTACCAGGTTTTTTATTTG 0.342 24 69 --- --- --- --- ELF2 1998 broad.mit.edu 37 4 139980327 139980327 + Frame_Shift_Del DEL T T - TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr4:139980327delT ENST00000394235.2 - 10 2058 c.1556delA c.(1555-1557)agfs p.K519fs ELF2_ENST00000358635.3_Frame_Shift_Del_p.K471fs|ELF2_ENST00000379550.1_Frame_Shift_Del_p.K531fs|ELF2_ENST00000379549.2_Frame_Shift_Del_p.K442fs|ELF2_ENST00000510408.1_Frame_Shift_Del_p.K459fs|ELF2_ENST00000265495.4_Frame_Shift_Del_p.K519fs|ELF2_ENST00000515489.1_Intron NM_001276458.1 NP_001263387.1 Q15723 ELF2_HUMAN E74-like factor 2 (ets domain transcription factor) 531 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 19 all_hematologic(180;0.162) CTCTGGCCCCTTTATGACTGC 0.448 63 144 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 79950742 79950750 + In_Frame_Del DEL CCCCCAGCT CCCCCAGCT - rs3045983 TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr5:79950742_79950750delCCCCCAGCT ENST00000265081.6 + 1 276_284 c.196_204delCCCCCAGCT c.(196-204)del p.PPA66del DHFR_ENST00000439211.2_5'UTR NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 66 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) gCCCCCAGCGCCCCCAGCTCCCGCCTTCC 0.732 Mismatch excision repair (MMR) 4 8 --- --- --- --- HLA-B 3106 broad.mit.edu 37 6 31323136 31323137 + Frame_Shift_Ins INS - - ATGG rs41551415 TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr6:31323136_31323137insATGG ENST00000412585.2 - 4 880_881 c.852_853insCCAT c.(850-855)catacafs p.T285fs NM_005514.6 NP_005505.2 major histocompatibility complex, class I, B endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 TCATGCTGTACATGGCATGTGT 0.564 Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of 8 41 --- --- --- --- DST 667 broad.mit.edu 37 6 56496014 56496017 + Frame_Shift_Del DEL TATG TATG - TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr6:56496014_56496017delTATG ENST00000370754.5 - 29 4034_4037 c.4035_4038delCATA c.(4033-4038)tafs p.YI1345fs DST_ENST00000312431.6_Frame_Shift_Del_p.YI1167fs|DST_ENST00000361203.3_Frame_Shift_Del_p.YI1167fs|DST_ENST00000244364.6_Frame_Shift_Del_p.YI841fs|DST_ENST00000370769.4_Frame_Shift_Del_p.YI1167fs|DST_ENST00000370788.2_Frame_Shift_Del_p.YI1167fs|DST_ENST00000446842.2_Frame_Shift_Del_p.YI841fs|DST_ENST00000421834.2_Frame_Shift_Del_p.YI1167fs|DST_ENST00000370765.6_Frame_Shift_Del_p.YI841fs|DST_ENST00000518935.1_Frame_Shift_Del_p.YI841fs Q03001 DYST_HUMAN dystonin 1167 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CATACTTATCTATGTAAGTGGAAG 0.304 15 47 --- --- --- --- DST 667 broad.mit.edu 37 6 56496801 56496802 + Frame_Shift_Del DEL AG AG - TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr6:56496801_56496802delAG ENST00000370754.5 - 28 3742_3743 c.3743_3744delCT c.(3742-3744)tfs p.S1248fs DST_ENST00000312431.6_Frame_Shift_Del_p.S1070fs|DST_ENST00000361203.3_Frame_Shift_Del_p.S1070fs|DST_ENST00000244364.6_Frame_Shift_Del_p.S744fs|DST_ENST00000370769.4_Frame_Shift_Del_p.S1070fs|DST_ENST00000370788.2_Frame_Shift_Del_p.S1070fs|DST_ENST00000446842.2_Frame_Shift_Del_p.S744fs|DST_ENST00000421834.2_Frame_Shift_Del_p.S1070fs|DST_ENST00000370765.6_Frame_Shift_Del_p.S744fs|DST_ENST00000518935.1_Frame_Shift_Del_p.S744fs Q03001 DYST_HUMAN dystonin 1070 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTCGAACTTCAGAGATGTAGAG 0.361 17 37 --- --- --- --- KRT17 3872 broad.mit.edu 37 17 39780380 39780381 + Frame_Shift_Ins INS - - G TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr17:39780380_39780381insG ENST00000311208.8 - 1 448_449 c.381_382insC c.(379-384)cccccgfs p.PP127fs JUP_ENST00000540235.1_Intron NM_000422.2 NP_000413.1 Q04695 K1C17_HUMAN keratin 17 127 Linker 1.|Rod. epidermis development cytoplasm|intermediate filament protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 12 Breast(137;0.000307) TAGTCACGGGCGGGCCCCGGGG 0.644 18 145 --- --- --- --- SPTBN4 57731 broad.mit.edu 37 19 41076449 41076450 + Frame_Shift_Ins INS - - A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr19:41076449_41076450insA ENST00000352632.3 + 33 7220_7221 c.7134_7135insA c.(7132-7137)ccagccfs p.A2379fs SPTBN4_ENST00000392025.1_Frame_Shift_Ins_p.A1122fs|SPTBN4_ENST00000598249.1_Frame_Shift_Ins_p.A2379fs Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 2379 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) gggaccggcccaagccgcgacg 0.812 4 3 --- --- --- --- DGKK 139189 broad.mit.edu 37 X 50165595 50165596 + RNA INS - - AC rs59226442 TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chrX:50165595_50165596insAC ENST00000376025.2 - 0 816 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) TTAAAAGGTAAacacacacaca 0.411 4 4 --- --- --- ---