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 CAMTA1 23261 broad.mit.edu 37 1 7724491 7724491 + Silent SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr1:7724491G>A ENST00000303635.7 + 9 2091 c.1884G>A c.(1882-1884)gaG>gaA p.E628E CAMTA1_ENST00000439411.2_Silent_p.E628E NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 628 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TCCCCGTCGAGCAGAACACCC 0.652000 T WWTR1 epitheliod hemangioendothelioma 4 219 0 0 0.021553 0 0 CXorf48 54967 broad.mit.edu 37 X 134305034 134305034 + Missense_Mutation SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chrX:134305034C>T ENST00000344129.2 - 1 288 c.62G>A c.(61-63)cGa>cAa p.R21Q CXorf48_ENST00000276241.6_Missense_Mutation_p.R21Q NM_017863.2 NP_060333.1 Q8WUE5 CX048_HUMAN chromosome X open reading frame 48 21 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 5 Acute lymphoblastic leukemia(192;0.000127) TGGGCCCTGTCGCTCTGCAGG 0.642000 19 55 0 0 0.016522 0 0 DUOXA1 90527 broad.mit.edu 37 15 45410265 45410265 + Missense_Mutation SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr15:45410265G>A ENST00000267803.4 - 10 1393 c.994C>T c.(994-996)Cgc>Tgc p.R332C DUOXA1_ENST00000430224.2_Missense_Mutation_p.R287C|DUOXA2_ENST00000323030.5_3'UTR|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000559014.1_Missense_Mutation_p.R332C NM_144565.2 NP_653166.2 Q1HG43 DOXA1_HUMAN dual oxidase maturation factor 1 0 protein transport endoplasmic reticulum membrane|integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686) CTCCTGGGGCGATCTGTAAAT 0.552000 OREG0023102 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 22 0 0 0.009096 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 5 158 0 0 0.014758 0 0 ZNF496 84838 broad.mit.edu 37 1 247473644 247473644 + Missense_Mutation SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr1:247473644C>T ENST00000294753.4 - 6 1230 c.766G>A c.(766-768)Ggg>Agg p.G256R ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.G292R NM_032752.1 NP_116141.1 Q96IT1 ZN496_HUMAN zinc finger protein 496 256 KRAB. positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) ATTGAGACCCCGTAATCCTCC 0.493000 15 49 0 0 0.028581 0 0 GSKIP 51527 broad.mit.edu 37 14 96851943 96851943 + Silent SNP C C G TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr14:96851943C>G ENST00000556095.1 + 4 2154 c.342C>G c.(340-342)ctC>ctG p.L114L GSKIP_ENST00000438650.1_Silent_p.L114L|GSKIP_ENST00000554182.1_Silent_p.L114L|GSKIP_ENST00000555181.1_Silent_p.L114L NM_001271904.1 NP_001258833.1 GSK3B interacting protein TGGATACACTCAGCCCCGCCT 0.448000 29 56 0 0 0.012213 0 0 DNAAF1 123872 broad.mit.edu 37 16 84188262 84188262 + Missense_Mutation SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr16:84188262G>A ENST00000378553.5 + 4 557 c.433G>A c.(433-435)Gaa>Aaa p.E145K DNAAF1_ENST00000334315.5_Missense_Mutation_p.E145K NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 145 axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 ACAGAAAATCGAAAACCTGGA 0.473000 11 44 0 0 0.008291 0 0 STX1A 6804 broad.mit.edu 37 7 73117214 73117214 + Silent SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr7:73117214G>A ENST00000222812.3 - 8 665 c.639C>T c.(637-639)caC>caT p.H213H STX1A_ENST00000395155.3_Silent_p.H213H|WBSCR22_ENST00000423166.2_Intron|STX1A_ENST00000395154.3_Silent_p.H213H|STX1A_ENST00000395156.3_Silent_p.H213H NM_004603.3 NP_004594.1 Q16623 STX1A_HUMAN syntaxin 1A (brain) 213 t-SNARE coiled-coil homology. energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome SNAP receptor activity large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(55;0.0908)|all_lung(88;0.198) TGAACATGTCGTGTAGCTCAC 0.592000 23 48 0 0 0.018920 0 0 HRNR 388697 broad.mit.edu 37 1 152190959 152190959 + Missense_Mutation SNP C C G TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr1:152190959C>G ENST00000368801.2 - 3 3221 c.3146G>C c.(3145-3147)gGc>gCc p.G1049A FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1049 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGACCTAAGCCAGAAGAGTG 0.562000 50 223 0 0 0.014410 0 0 USP35 57558 broad.mit.edu 37 11 77911847 77911847 + Missense_Mutation SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr11:77911847C>T ENST00000529308.1 + 6 1451 c.1190C>T c.(1189-1191)gCc>gTc p.A397V USP35_ENST00000530267.1_Intron|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Missense_Mutation_p.A128V|USP35_ENST00000441408.2_5'UTR NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 397 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) GTCATGGAGGCCATCAAGGTG 0.622000 9 62 0 0 0.006214 0 0 DNAJC10 54431 broad.mit.edu 37 2 183616459 183616459 + Nonsense_Mutation SNP C C T rs75109237 TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr2:183616459C>T ENST00000264065.6 + 15 1796 c.1381C>T c.(1381-1383)Caa>Taa p.Q461* NM_018981.1 NP_061854.1 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 461 Thioredoxin 2. apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) GCTTGGACCTCAAAATTTTCC 0.368000 40 165 0 0 0.030466 0 0 SMG8 55181 broad.mit.edu 37 17 57288727 57288727 + Missense_Mutation SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr17:57288727C>T ENST00000543872.2 + 2 1579 c.1315C>T c.(1315-1317)Cat>Tat p.H439Y SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.H439Y|SMG8_ENST00000578922.1_Missense_Mutation_p.H439Y Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 439 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding p.H439Y(1) NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 ACAGCCTTCCCATTTTGAACT 0.478000 16 38 0 0 0.028581 0 0 SOS2 6655 broad.mit.edu 37 14 50585274 50585274 + Missense_Mutation SNP G G C TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr14:50585274G>C ENST00000216373.5 - 23 4061 c.3787C>G c.(3787-3789)Cct>Gct p.P1263A SOS2_ENST00000543680.1_Missense_Mutation_p.P1230A NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 1263 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) GGTGTGCTAGGAGGAGTGCTT 0.517000 11 45 0 0 0.008291 0 0 FCGR3B 2215 broad.mit.edu 37 1 161596179 161596179 + Silent SNP G G C TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr1:161596179G>C ENST00000294800.3 - 4 606 c.333C>G c.(331-333)ctC>ctG p.L111L FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Silent_p.L111L|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR3B_ENST00000531221.1_Silent_p.L147L NM_001244753.1|NM_001271035.1 NP_001231682.1|NP_001257964.1 O75015 FCG3B_HUMAN Fc fragment of IgG, low affinity IIIb, receptor (CD16b) 111 immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 18 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GAGGGGCCTGGAGCAACAGCC 0.562000 4 27 0 0 0.021553 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140736077 140736077 + Missense_Mutation SNP A A T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr5:140736077A>T ENST00000571252.1 + 1 1310 c.1310A>T c.(1309-1311)cAt>cTt p.H437L PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAGAAACTCATATTTCACTG 0.468000 21 33 0 0 0.010504 0 0 CACNA1G 8913 broad.mit.edu 37 17 48685319 48685319 + Silent SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr17:48685319G>A ENST00000352832.5 + 24 4947 c.4575G>A c.(4573-4575)gaG>gaA p.E1525E CACNA1G_ENST00000510115.1_Silent_p.E1525E|CACNA1G_ENST00000513689.2_Silent_p.E1514E|CACNA1G_ENST00000510366.1_Silent_p.E1514E|CACNA1G_ENST00000514079.1_Silent_p.E1548E|CACNA1G_ENST00000507336.1_Silent_p.E1548E|CACNA1G_ENST00000442258.2_Silent_p.E1525E|CACNA1G_ENST00000505165.1_Silent_p.E1548E|CACNA1G_ENST00000354983.4_Silent_p.E1525E|CACNA1G_ENST00000515765.1_Silent_p.E1548E|CACNA1G_ENST00000429973.2_Silent_p.E1548E|CACNA1G_ENST00000515411.1_Silent_p.E1548E|CACNA1G_ENST00000514717.1_Silent_p.E1491E|CACNA1G_ENST00000514181.1_Silent_p.E1548E|CACNA1G_ENST00000360761.4_Silent_p.E1525E|CACNA1G_ENST00000502264.1_Silent_p.E1525E|CACNA1G_ENST00000513964.1_Silent_p.E1514E|CACNA1G_ENST00000358244.5_Silent_p.E1525E|CACNA1G_ENST00000515165.1_Silent_p.E1548E|CACNA1G_ENST00000503485.1_Silent_p.E1514E|CACNA1G_ENST00000507609.1_Silent_p.E1548E|CACNA1G_ENST00000359106.5_Silent_p.E1548E|CACNA1G_ENST00000507896.1_Silent_p.E1548E|CACNA1G_ENST00000507510.2_Silent_p.E1548E|CACNA1G_ENST00000512389.1_Silent_p.E1548E NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1548 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) AGCACCAGGAGGAAGAGGAGG 0.547000 8 32 0 0 0.038147 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 31 0 0 0.004672 0 0 FBXW10 10517 broad.mit.edu 37 17 18659468 18659468 + Splice_Site SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr17:18659468G>A ENST00000308799.4 + 5 1538 c.e5+1 FBXW10_ENST00000395667.1_Splice_Site|FBXW10_ENST00000301938.4_Splice_Site|FBXW10_ENST00000395665.4_Splice_Site Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 TCTCTGACACGTAGGTACTGG 0.493000 9 29 0 0 0.004482 0 0 TP53 7157 broad.mit.edu 37 17 7574021 7574021 + Nonsense_Mutation SNP C C A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr17:7574021C>A ENST00000269305.4 - 10 1195 c.1006G>T c.(1006-1008)Gag>Tag p.E336* TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.E336*|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 336 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.E336*(5)|p.I332fs*5(1)|p.E336fs*12(1)|p.?(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCGAAGCGCTCACGCCCACGG 0.517000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 5 35 0.00198382 0.00212011 0.029380 1 0 ASB10 136371 broad.mit.edu 37 7 150878272 150878272 + Silent SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr7:150878272G>A ENST00000422024.1 - 3 1118 c.993C>T c.(991-993)gaC>gaT p.D331D ASB10_ENST00000434669.1_Silent_p.D331D|ASB10_ENST00000377867.3_Silent_p.D271D|ASB10_ENST00000275838.1_Silent_p.D286D|ASB10_ENST00000420175.2_Silent_p.D286D NM_001142459.1 NP_001135931.2 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box containing 10 286 intracellular signal transduction NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CAGCATCAGCGTCTGCTCCAG 0.672000 5 23 0 0 0.021553 0 0 AP2A1 160 broad.mit.edu 37 19 50309485 50309485 + Missense_Mutation SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr19:50309485G>A ENST00000354293.5 + 22 2931 c.2765G>A c.(2764-2766)cGg>cAg p.R922Q AP2A1_ENST00000359032.5_Missense_Mutation_p.R944Q NM_130787.2 NP_570603.2 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 subunit 944 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2) 19 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) TGTCTGCTTCGGCTGGAGCCC 0.637000 6 11 0 0 0.029380 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412327 139412327 + Missense_Mutation SNP A A G TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr9:139412327A>G ENST00000277541.6 - 8 1393 c.1318T>C c.(1318-1320)Tgt>Cgt p.C440R NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 440 EGF-like 11; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CCCTGCAGACACTGGCACTCG 0.657000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 9 29 0 0 0.008291 0 0 ZNF365 22891 broad.mit.edu 37 10 64416233 64416233 + Nonsense_Mutation SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr10:64416233C>T ENST00000410046.3 + 6 1487 c.1207C>T c.(1207-1209)Cag>Tag p.Q403* ZNF365_ENST00000395249.1_Intron|ZNF365_ENST00000395251.1_Nonsense_Mutation_p.Q157* NM_199451.2 NP_955523.1 Q70YC4 TALAN_HUMAN zinc finger protein 365 157 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) cttaggactccaggactttga 0.443000 9 28 0 0 0.006214 0 0 OLFML1 283298 broad.mit.edu 37 11 7530749 7530749 + Missense_Mutation SNP G G C TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr11:7530749G>C ENST00000329293.3 + 3 933 c.539G>C c.(538-540)gGa>gCa p.G180A OLFML1_ENST00000528758.1_3'UTR|OLFML1_ENST00000530135.1_Missense_Mutation_p.G180A|CTD-2516F10.2_ENST00000530201.1_RNA NM_198474.3 NP_940876.2 Q6UWY5 OLFL1_HUMAN olfactomedin-like 1 180 Olfactomedin-like. extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2) 24 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) TTATTAATTGGATCCAGAAAC 0.423000 9 58 0 0 0.004482 0 0 AURKB 9212 broad.mit.edu 37 17 8110609 8110609 + Missense_Mutation SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr17:8110609G>A ENST00000316199.6 - 5 363 c.286C>T c.(286-288)Cgg>Tgg p.R96W AURKB_ENST00000534871.1_Missense_Mutation_p.R54W|AURKB_ENST00000585124.1_Missense_Mutation_p.R95W|AURKB_ENST00000578549.1_Intron|AURKB_ENST00000535053.1_Missense_Mutation_p.R96W Q96GD4 AURKB_HUMAN aurora kinase B 95 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|lung(2) 4 TTCTTCTCCCGAGCCAAGTAC 0.517000 13 30 0 0 0.016723 0 0 FOXI1 2299 broad.mit.edu 37 5 169535116 169535116 + Missense_Mutation SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr5:169535116G>A ENST00000306268.6 + 2 699 c.638G>A c.(637-639)cGc>cAc p.R213H FOXI1_ENST00000449804.2_Intron Q12951 FOXI1_HUMAN forkhead box I1 213 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGAAATTTCCGCAGGAAAAGG 0.493000 Pendred syndrome 19 34 0 0 0.008871 0 0 MUC17 140453 broad.mit.edu 37 7 100684621 100684621 + Silent SNP C C A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr7:100684621C>A ENST00000306151.4 + 3 9988 c.9924C>A c.(9922-9924)acC>acA p.T3308T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3308 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CTGCTGACACCAGCACACCTG 0.498000 164 408 1.33315e-76 1.55534e-76 0.014410 1 0 ZNF707 286075 broad.mit.edu 37 8 144776477 144776477 + Missense_Mutation SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr8:144776477G>A ENST00000532205.1 + 8 1792 c.893G>A c.(892-894)cGg>cAg p.R298Q ZNF707_ENST00000532158.1_Missense_Mutation_p.R298Q|ZNF707_ENST00000358656.4_Missense_Mutation_p.R298Q|ZNF707_ENST00000418203.2_Missense_Mutation_p.R298Q|ZNF707_ENST00000454097.1_Missense_Mutation_p.R298Q Q96C28 ZN707_HUMAN zinc finger protein 707 298 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1) 1 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) AAAGCCTTCCGGACCAAGGAG 0.632000 5 24 0 0 0.029380 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 3 78 0 0 0.009096 0 0 RBM7 10179 broad.mit.edu 37 11 114271421 114271421 + Missense_Mutation SNP C C G TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr11:114271421C>G ENST00000541475.1 + 1 93 c.28C>G c.(28-30)Cgc>Ggc p.R10G RBM7_ENST00000544582.1_Missense_Mutation_p.R10G|RP11-212D19.4_ENST00000544347.1_Missense_Mutation_p.I6M|RBM7_ENST00000540163.1_Missense_Mutation_p.R10G|RBM7_ENST00000375490.5_Missense_Mutation_p.R10G|RBM7_ENST00000545678.1_5'UTR Q9Y580 RBM7_HUMAN RNA binding motif protein 7 10 RRM. meiosis nucleotide binding|protein binding|RNA binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104) BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348) GGAAGCGGATCGCACTCTCTT 0.627000 29 119 0 0 0.017118 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 4 79 0 0 0.009096 0 0 HIST1H2BJ 8970 broad.mit.edu 37 6 27100329 27100329 + Silent SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr6:27100329C>T ENST00000607124.1 - 1 200 c.201G>A c.(199-201)gtG>gtA p.V67V HIST1H2BJ_ENST00000339812.2_Silent_p.V67V|HIST1H2BJ_ENST00000541790.1_Silent_p.V67V P06899 H2B1J_HUMAN histone cluster 1, H2bj 67 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1) 10 AAATGTCGTTCACAAACGAAT 0.562000 55 161 0 0 0.014410 0 0 SIGLEC6 946 broad.mit.edu 37 19 52034681 52034681 + Missense_Mutation SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr19:52034681G>A ENST00000346477.3 - 2 228 c.160C>T c.(160-162)Ccc>Tcc p.P54S SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P54S|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P54S|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P54S|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P54S NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 54 Ig-like V-type. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) AGGGTAGTGGGCAATCTGCAG 0.597000 13 54 0 0 0.020292 0 0 TTC27 55622 broad.mit.edu 37 2 33007733 33007733 + Missense_Mutation SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr2:33007733G>A ENST00000317907.4 + 15 2051 c.1820G>A c.(1819-1821)cGa>cAa p.R607Q NM_001193509.1|NM_017735.4 NP_001180438.1|NP_060205.3 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 607 protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 TCCTATATCCGATTAAAACAA 0.294000 14 43 0 0 0.016723 0 0 MUC16 94025 broad.mit.edu 37 19 9060890 9060890 + Silent SNP A A G TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr19:9060890A>G ENST00000397910.4 - 3 26759 c.26556T>C c.(26554-26556)ccT>ccC p.P8852P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8854 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGGAAGATGGAGGGCTAGTTT 0.522000 26 113 0 0 0.030593 0 0 FGA 2243 broad.mit.edu 37 4 155507529 155507529 + Missense_Mutation SNP C C A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr4:155507529C>A ENST00000302053.3 - 5 1130 c.1052G>T c.(1051-1053)aGc>aTc p.S351I FGA_ENST00000403106.3_Missense_Mutation_p.S351I NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 351 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) AGGTCTAGGGCTCCCAGGGTT 0.557000 35 59 1.836e-18 2.10689e-18 0.017118 1 0 DNAJC1 64215 broad.mit.edu 37 10 22048519 22048519 + Silent SNP C C T rs148336959 TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr10:22048519C>T ENST00000376980.3 - 11 1466 c.1176G>A c.(1174-1176)tcG>tcA p.S392S DNAJC1_ENST00000483085.1_5'UTR NM_022365.3 NP_071760.2 Q96KC8 DNJC1_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 1 392 negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2) 21 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) TCTGAACTGTCGATTTGAGTT 0.562000 14 30 0 0 0.024245 0 0 GOT1 2805 broad.mit.edu 37 10 101165514 101165514 + Splice_Site SNP T T G TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr10:101165514T>G ENST00000370508.5 - 5 668 c.642_splice c.e5+1 p.K214_splice GOT1_ENST00000543866.1_Splice_Site_p.K193_splice NM_002079.2 NP_002070.1 P17174 AATC_HUMAN glutamic-oxaloacetic transaminase 1, soluble 214 aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus cytosol L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2) 16 Ovarian(717;0.028)|Colorectal(252;0.234) Epithelial(162;4.76e-10)|all cancers(201;3.84e-08) L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GGCAGTTACCTTCATGACAGA 0.438000 5 56 0 0 0.014758 0 0 ANKRD33 341405 broad.mit.edu 37 12 52282464 52282464 + Silent SNP C C A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr12:52282464C>A ENST00000301190.6 + 2 485 c.258C>A c.(256-258)ggC>ggA p.G86G ANKRD33_ENST00000340970.4_5'UTR|ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000547119.1_3'UTR NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 0 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) CCTGCCCGGGCAAGGAGACCC 0.617000 13 78 0.000151284 0.000162922 0.016723 1 0 SOS2 6655 broad.mit.edu 37 14 50626720 50626720 + Silent SNP G G A rs8010578 TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr14:50626720G>A ENST00000216373.5 - 10 1555 c.1281C>T c.(1279-1281)atC>atT p.I427I SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Silent_p.I394I NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 427 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) CCCATCCATCGATATTTTTCT 0.358000 32 57 0 0 0.041601 0 0 RSF1 51773 broad.mit.edu 37 11 77378520 77378520 + Silent SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr11:77378520C>T ENST00000308488.6 - 16 4070 c.3768G>A c.(3766-3768)aaG>aaA p.K1256K RSF1_ENST00000360355.2_Silent_p.K1225K|RSF1_ENST00000480887.1_Silent_p.K1004K Q96T23 RSF1_HUMAN remodeling and spacing factor 1 1256 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) CTTCAGAGTTCTTGGACAAAT 0.448000 7 131 0 0 0.004482 0 0 WNT9A 7483 broad.mit.edu 37 1 228111988 228111988 + Missense_Mutation SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr1:228111988C>T ENST00000272164.5 - 3 476 c.466G>A c.(466-468)Gac>Aac p.D156N WNT9A_ENST00000497852.1_5'UTR NM_003395.2 NP_003386.1 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, member 9A 156 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Prostate(94;0.0405) TTCTCCAGGTCGGGTGCCTCA 0.632000 29 89 0 0 0.030593 0 0 TSSK6 83983 broad.mit.edu 37 19 19625929 19625929 + Missense_Mutation SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr19:19625929C>T ENST00000360913.3 - 1 909 c.308G>A c.(307-309)cGc>cAc p.R103H TSSK6_ENST00000585580.3_Missense_Mutation_p.R103H Q9BXA6 TSSK6_HUMAN testis-specific serine kinase 6 103 Protein kinase. multicellular organismal development|sperm chromatin condensation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 16 GCGCCCGTTGCGCTGCACGGC 0.652000 17 53 0 0 0.038395 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 6 49 0 0 0.029380 0 0 PRKX 5613 broad.mit.edu 37 X 3573309 3573309 + Silent SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chrX:3573309G>A ENST00000262848.5 - 3 834 c.480C>T c.(478-480)atC>atT p.I160I PRKX_ENST00000425240.1_5'UTR NM_005044.4 NP_005035.1 P51817 PRKX_HUMAN protein kinase, X-linked 160 Protein kinase. ATP binding|cAMP-dependent protein kinase activity kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2) 12 all_lung(23;0.000396)|Lung NSC(23;0.00123) GCAGGTACTCGATGGCACAGA 0.577000 35 49 0 0 0.017118 0 0 SLC25A20 788 broad.mit.edu 37 3 48921543 48921543 + Silent SNP T T C TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr3:48921543T>C ENST00000319017.4 - 3 411 c.213A>G c.(211-213)ctA>ctG p.L71L SLC25A20_ENST00000430379.1_Intron|SLC25A20_ENST00000544097.1_Silent_p.L21L NM_000387.5 NP_000378.1 O43772 MCAT_HUMAN solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 71 carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation integral to membrane|mitochondrial inner membrane acyl carnitine transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) L-Carnitine(DB00583) TTCCCCGATATAGCCCCGTGA 0.498000 30 54 0 0 0.013726 0 0 DAB2 1601 broad.mit.edu 37 5 39381673 39381673 + Missense_Mutation SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr5:39381673C>T ENST00000320816.6 - 11 1854 c.1387G>A c.(1387-1389)Gtc>Atc p.V463I DAB2_ENST00000509337.1_Missense_Mutation_p.V442I|DAB2_ENST00000339788.6_Missense_Mutation_p.V245I|DAB2_ENST00000545653.1_Missense_Mutation_p.V442I NM_001343.3 NP_001334.2 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 463 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) GGTTCTGAGACGGGAGGAGCA 0.542000 46 132 0 0 0.014410 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 4 68 0 0 0.009096 0 0 CDH19 28513 broad.mit.edu 37 18 64176256 64176256 + Missense_Mutation SNP G G A rs150398178 byFrequency TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr18:64176256G>A ENST00000262150.2 - 11 2096 c.1804C>T c.(1804-1806)Ctc>Ttc p.L602F CDH19_ENST00000540086.1_Intron NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 602 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) ATGCAAATGAGAATAGCAATG 0.418000 17 58 0 0 0.033300 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6107634 6107634 + Missense_Mutation SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr4:6107634G>A ENST00000409021.3 - 3 639 c.190C>T c.(190-192)Cgg>Tgg p.R64W JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R64W|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R64W NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 64 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GCCGTGTGCCGTCGCTGCTCC 0.672000 15 45 0 0 0.020292 0 0 CSAG4 100130935 broad.mit.edu 37 X 151896274 151896274 + RNA SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chrX:151896274G>A ENST00000361201.4 - 0 456 NR_073432.1 endometrium(2)|kidney(2)|lung(1) 5 TTGAAGCGGCGGTCTTTTAGG 0.502000 76 63 0 0 0.014410 0 0 MYH4 4622 broad.mit.edu 37 17 10364306 10364306 + Silent SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr17:10364306G>A ENST00000255381.2 - 12 1184 c.1074C>T c.(1072-1074)gcC>gcT p.A358A CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 358 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 AATGCATCACGGCTCCAGTGA 0.483000 40 123 0 0 0.027894 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18195018 18195018 + Missense_Mutation SNP A A G TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr11:18195018A>G ENST00000314254.3 + 1 635 c.215A>G c.(214-216)gAc>gGc p.D72G RP11-113D6.6_ENST00000527671.1_Intron NM_054032.3 NP_473373.2 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 72 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 GCCGCAGCAGACTTCCTCTTC 0.532000 15 76 0 0 0.020292 0 0 COL11A1 1301 broad.mit.edu 37 1 103444279 103444279 + Silent SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr1:103444279G>A ENST00000358392.2 - 35 3092 c.2775C>T c.(2773-2775)ggC>ggT p.G925G COL11A1_ENST00000512756.1_Silent_p.G797G|COL11A1_ENST00000353414.4_Silent_p.G874G|COL11A1_ENST00000370096.3_Silent_p.G913G NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 913 Triple-helical region. Missing (in STL2; overlapping phenotype with Marshall syndrome). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CACCTGGAGGGCCAGGAGGGC 0.383000 24 158 0 0 0.041601 0 0 OFCC1 266553 broad.mit.edu 37 6 9939556 9939556 + Missense_Mutation SNP C C G TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr6:9939556C>G ENST00000316020.6 - 2 181 c.182G>C c.(181-183)tGc>tCc p.C61S OFCC1_ENST00000472329.1_5'UTR orofacial cleft 1 candidate 1 endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1) 11 Ovarian(93;0.0473)|Breast(50;0.201) all_hematologic(90;0.124) TTGCCCTTGGCAATGCACAGA 0.383000 19 92 0 0 0.012319 0 0 HEPHL1 341208 broad.mit.edu 37 11 93803697 93803697 + Silent SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr11:93803697C>T ENST00000315765.9 + 6 1229 c.1221C>T c.(1219-1221)aaC>aaT p.N407N NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 407 Plastocyanin-like 3. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TTCCTCTAAACGCCTCTGGCA 0.433000 5 31 0 0 0.021553 0 0 BLOC1S2 282991 broad.mit.edu 37 10 102045960 102045960 + Silent SNP G G C TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr10:102045960G>C ENST00000370372.2 - 2 118 c.66C>G c.(64-66)gcC>gcG p.A22A BLOC1S2_ENST00000361832.2_5'UTR|BLOC1S2_ENST00000441611.1_5'UTR NM_173809.4 NP_776170.2 Q6QNY1 BL1S2_HUMAN biogenesis of lysosomal organelles complex-1, subunit 2 22 melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus gamma-tubulin binding|identical protein binding|protein C-terminus binding large_intestine(1)|lung(2)|ovary(1) 4 Colorectal(252;0.117) Epithelial(162;2.44e-10)|all cancers(201;1.97e-08) CTGTCTCCACGGCGGCATCGT 0.572000 8 39 0 0 0.038147 0 0 PDE8B 8622 broad.mit.edu 37 5 76645253 76645253 + Missense_Mutation SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr5:76645253C>T ENST00000264917.5 + 8 931 c.886C>T c.(886-888)Cca>Tca p.P296S PDE8B_ENST00000333194.4_Missense_Mutation_p.P296S|PDE8B_ENST00000340978.3_Intron|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000342343.4_Missense_Mutation_p.P276S NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 296 PAS. cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) GTATGTCAACCCAGCCTTCGA 0.507000 37 23 0 0 0.025465 0 0 CSMD1 64478 broad.mit.edu 37 8 2876011 2876011 + Missense_Mutation SNP T T A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr8:2876011T>A ENST00000602557.1 - 53 8575 c.8020A>T c.(8020-8022)Act>Tct p.T2674S CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2673S|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000520002.1_Missense_Mutation_p.T2674S|CSMD1_ENST00000602723.1_Intron Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2674 Sushi 17. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGACATCGAGTTTCGCTGCCG 0.458000 109 88 0 0 0.014410 0 0 GTPBP4 23560 broad.mit.edu 37 10 1046661 1046661 + Silent SNP G G A rs138136568 TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr10:1046661G>A ENST00000360803.4 + 7 781 c.699G>A c.(697-699)agG>agA p.R233R GTPBP4_ENST00000545048.1_Silent_p.R186R|GTPBP4_ENST00000538293.1_Silent_p.R117R|GTPBP4_ENST00000491635.1_3'UTR NM_012341.2 NP_036473.2 Q9BZE4 NOG1_HUMAN GTP binding protein 4 233 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) TGGAGGATAGGAACACCATCG 0.567000 7 24 0 0 0.029380 0 0 FAT3 120114 broad.mit.edu 37 11 92600371 92600371 + Silent SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr11:92600371G>A ENST00000298047.6 + 21 12140 c.12123G>A c.(12121-12123)tcG>tcA p.S4041S FAT3_ENST00000533797.1_Silent_p.S376S|FAT3_ENST00000409404.2_Silent_p.S4041S|FAT3_ENST00000525166.1_Silent_p.S3891S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4041 EGF-like 2. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCCTGCCATCGGGGGGTGAGT 0.667000 TCGA Ovarian(4;0.039) 3 14 0 0 0.004672 0 0 ITGB4 3691 broad.mit.edu 37 17 73748588 73748588 + Silent SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr17:73748588C>T ENST00000200181.3 + 32 4225 c.4038C>T c.(4036-4038)ttC>ttT p.F1346F ITGB4_ENST00000579662.1_Silent_p.F1346F|ITGB4_ENST00000339591.3_Silent_p.F1346F|ITGB4_ENST00000450894.3_Silent_p.F1346F|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000449880.2_Silent_p.F1346F NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 1346 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) ACGACAGCTTCCTTATGTACA 0.627000 15 79 0 0 0.024245 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070116 141070116 + RNA SNP G G A rs142836124 by1000genomes TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr9:141070116G>A ENST00000503395.1 + 0 1196 p.R77H(1) GACTCTGTGCGCTCGGGGCCC 0.687000 4 64 0 0 0.009096 0 0 CTPS2 56474 broad.mit.edu 37 X 16635319 16635319 + Silent SNP T T C TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chrX:16635319T>C ENST00000443824.1 - 16 2243 c.1500A>G c.(1498-1500)gtA>gtG p.V500V CTPS2_ENST00000359276.4_Silent_p.V500V|CTPS2_ENST00000380241.3_Silent_p.V500V NM_001144002.1 NP_001137474.1 Q9NRF8 PYRG2_HUMAN CTP synthase 2 500 Glutamine amidotransferase type-1. glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process cytosol ATP binding|CTP synthase activity breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Hepatocellular(33;0.0997) CATCCTGACCTACAAAACTTA 0.398000 3 114 0 0 0.014758 0 0 DEFB124 245937 broad.mit.edu 37 20 30053437 30053437 + Missense_Mutation SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr20:30053437C>T ENST00000317676.2 - 2 87 c.88G>A c.(88-90)Ggt>Agt p.G30S NM_001037500.1 NP_001032589.1 Q8NES8 DB124_HUMAN defensin, beta 124 30 defense response to bacterium extracellular region Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) GCCCCTTGACCCTTCCAGCAC 0.522000 39 141 0 0 0.039052 0 0 GLRX2 51022 broad.mit.edu 37 1 193070317 193070317 + Missense_Mutation SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr1:193070317G>A ENST00000367440.3 - 2 615 c.140C>T c.(139-141)tCa>tTa p.S47L GLRX2_ENST00000367439.3_Missense_Mutation_p.S46L|GLRX2_ENST00000472197.1_5'UTR NM_001243399.1|NM_016066.4 NP_001230328.1|NP_057150.2 Q9NS18 GLRX2_HUMAN glutaredoxin 2 46 apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport mitochondrion|nucleus 2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity breast(1)|large_intestine(1)|lung(3) 5 Glutathione(DB00143) CAAAGATGATGATGTATTGCT 0.343000 15 47 0 0 0.024245 0 0 CACNG8 59283 broad.mit.edu 37 19 54466508 54466508 + Missense_Mutation SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr19:54466508G>A ENST00000270458.2 + 1 215 c.112G>A c.(112-114)Gcc>Acc p.A38T NM_031895.5 NP_114101.4 Q8WXS5 CCG8_HUMAN calcium channel, voltage-dependent, gamma subunit 8 38 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1) 13 all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.162) CATGACCATCGCCATCAGCAC 0.697000 6 16 0 0 0.021553 0 0 EFHC1 114327 broad.mit.edu 37 6 52334164 52334164 + Missense_Mutation SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr6:52334164G>A ENST00000371068.5 + 7 1274 c.1171G>A c.(1171-1173)Gaa>Aaa p.E391K EFHC1_ENST00000538167.1_Missense_Mutation_p.E372K|EFHC1_ENST00000433625.2_Missense_Mutation_p.E300K NM_018100.3 NP_060570.2 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 391 axoneme|neuronal cell body calcium ion binding|protein C-terminus binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 27 Lung NSC(77;0.109) TGGACTAGTGGAAGATTCTGC 0.378000 25 90 0 0 0.021523 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28338153 28338153 + Silent SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr21:28338153G>A ENST00000284987.5 - 1 679 c.558C>T c.(556-558)tcC>tcT p.S186S NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 186 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 GGATCCGTGCGGACCCATCCC 0.697000 5 19 0 0 0.014758 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73148992 73148992 + Missense_Mutation SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr4:73148992G>A ENST00000286657.4 - 22 3515 c.3479C>T c.(3478-3480)tCa>tTa p.S1160L NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 1160 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTGTGAAGCTGAACTGAGGTG 0.498000 8 145 0 0 0.004482 0 0 ARSF 416 broad.mit.edu 37 X 2998964 2998964 + Nonsense_Mutation SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chrX:2998964C>T ENST00000381127.1 + 5 537 c.316C>T c.(316-318)Caa>Taa p.Q106* ARSF_ENST00000359361.2_Nonsense_Mutation_p.Q106*|ARSF_ENST00000537104.1_Nonsense_Mutation_p.Q106* NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 106 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ACGTGTCATCCAAAATCTTGC 0.438000 21 12 0 0 0.014323 0 0 CCP110 9738 broad.mit.edu 37 16 19553369 19553369 + Nonsense_Mutation SNP C C G TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr16:19553369C>G ENST00000396212.2 + 7 2646 c.2210C>G c.(2209-2211)tCa>tGa p.S737* CCP110_ENST00000396208.2_Nonsense_Mutation_p.S737*|CCP110_ENST00000381396.5_Nonsense_Mutation_p.S737* NM_014711.4 NP_055526.3 O43303 CP110_HUMAN centriolar coiled coil protein 110kDa 737 centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 CTCCATACTTCAAATTCAAAT 0.338000 23 59 0 0 0.016522 0 0 NLRP3 114548 broad.mit.edu 37 1 247587539 247587539 + Missense_Mutation SNP G G T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr1:247587539G>T ENST00000366497.2 + 4 1574 c.794G>T c.(793-795)aGc>aTc p.S265I NLRP3_ENST00000336119.3_Missense_Mutation_p.S265I|NLRP3_ENST00000391828.3_Missense_Mutation_p.S265I|NLRP3_ENST00000366496.2_Missense_Mutation_p.S265I|NLRP3_ENST00000348069.2_Missense_Mutation_p.S265I|NLRP3_ENST00000391827.2_Missense_Mutation_p.S265I|NLRP3_ENST00000474792.1_3'UTR NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 265 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CGAGAGGTGAGCCTTGTGACA 0.537000 12 50 0.0135373 0.0142498 0.013537 1 0 MYH13 8735 broad.mit.edu 37 17 10248886 10248886 + Missense_Mutation SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr17:10248886C>T ENST00000418404.3 - 13 1474 c.1311G>A c.(1309-1311)atG>atA p.M437I MYH13_ENST00000570743.1_Missense_Mutation_p.M437I|MYH13_ENST00000252172.4_Missense_Mutation_p.M437I Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 437 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TCCACAGGAACATCTTCTCGT 0.522000 33 115 0 0 0.021022 0 0 DENND3 22898 broad.mit.edu 37 8 142146792 142146792 + Nonsense_Mutation SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr8:142146792G>A ENST00000519811.1 + 2 357 c.287G>A c.(286-288)tGg>tAg p.W96* DENND3_ENST00000518347.1_Nonsense_Mutation_p.W96*|DENND3_ENST00000424248.1_Nonsense_Mutation_p.W16*|DENND3_ENST00000262585.2_Nonsense_Mutation_p.W16* A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 16 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CCAGAGCAGTGGAAGGGCCTC 0.647000 3 30 0 0 0.004672 0 0 BCOR 54880 broad.mit.edu 37 X 39934150 39934150 + Missense_Mutation SNP T T C TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chrX:39934150T>C ENST00000342274.4 - 4 811 c.449A>G c.(448-450)aAa>aGa p.K150R BCOR_ENST00000397354.3_Missense_Mutation_p.K150R|BCOR_ENST00000378455.4_Missense_Mutation_p.K150R|BCOR_ENST00000378444.4_Missense_Mutation_p.K150R NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 150 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 AGGCGGTGTTTTGTATATAGC 0.507000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 27 33 0 0 0.041601 0 0 GLI2 2736 broad.mit.edu 37 2 121746950 121746950 + Missense_Mutation SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr2:121746950G>A ENST00000452319.1 + 14 3520 c.3460G>A c.(3460-3462)Gta>Ata p.V1154I GLI2_ENST00000361492.4_Missense_Mutation_p.V1154I|GLI2_ENST00000314490.11_Intron P10070 GLI2_HUMAN GLI family zinc finger 2 1154 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CTCCGGCACCGTAGACGCCCT 0.622000 4 30 0 0 0.009096 0 0 KIF2B 84643 broad.mit.edu 37 17 51902045 51902045 + Missense_Mutation SNP C C A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr17:51902045C>A ENST00000268919.4 + 1 1807 c.1651C>A c.(1651-1653)Cat>Aat p.H551N NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 551 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 AAGGCCCTACCATCGTGGCCA 0.398000 17 38 5.3912e-06 5.85092e-06 0.038395 1 0 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C T rs28934575 TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr17:7577548C>T ENST00000420246.2 - 7 865 c.733G>A c.(733-735)Ggc>Agc p.G245S TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 245 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGGTTCATGCCGCCCATGCAG 0.577000 G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 29 56 0 0 0.012213 0 0 PPP2R1B 5519 broad.mit.edu 37 11 111630634 111630634 + Missense_Mutation SNP C C G TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr11:111630634C>G ENST00000527614.1 - 5 646 c.581G>C c.(580-582)cGa>cCa p.R194P PPP2R1B_ENST00000426998.2_Missense_Mutation_p.R130P|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.R194P|PPP2R1B_ENST00000393055.2_Intron|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.R33P|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.R194P NM_001177562.1|NM_002716.4 NP_001171033.1|NP_002707.3 P30154 2AAB_HUMAN protein phosphatase 2, regulatory subunit A, beta 194 protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2) 22 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) AGCAGCACGTCGTACCATTGG 0.413000 8 58 0 0 0.038147 0 0 MKRN1 23608 broad.mit.edu 37 7 140159671 140159671 + Missense_Mutation SNP G G C TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr7:140159671G>C ENST00000255977.2 - 3 604 c.380C>G c.(379-381)tCc>tGc p.S127C MKRN1_ENST00000474576.1_Missense_Mutation_p.S63C|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000443720.2_Missense_Mutation_p.S127C|MKRN1_ENST00000480552.1_Intron NM_013446.3 NP_038474.2 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 127 ligase activity|nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 16 Melanoma(164;0.00956) AGCAGCAAGGGATGACTTTGT 0.403000 28 71 0 0 0.041601 0 0 GABRG1 2565 broad.mit.edu 37 4 46099293 46099293 + Missense_Mutation SNP G G T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr4:46099293G>T ENST00000295452.4 - 2 345 c.178C>A c.(178-180)Cat>Aat p.H60N NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 60 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TCTCCTTCATGAATTTTTGGG 0.368000 16 133 3.52763e-06 3.85835e-06 0.033300 1 0 NLRP7 199713 broad.mit.edu 37 19 55450945 55450945 + Silent SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr19:55450945C>T ENST00000446217.1 - 6 1728 c.1326G>A c.(1324-1326)acG>acA p.T442T NLRP7_ENST00000328092.5_Silent_p.T414T|NLRP7_ENST00000592784.1_Silent_p.T414T|NLRP7_ENST00000590030.1_Silent_p.T414T|NLRP7_ENST00000588756.1_Silent_p.T414T|NLRP7_ENST00000448121.2_Silent_p.T414T|NLRP7_ENST00000340844.2_Silent_p.T414T Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 414 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GGAGGCTCAGCGTCCGCAGCG 0.711000 5 31 0 0 0.014758 0 0 HEATR3 55027 broad.mit.edu 37 16 50138923 50138923 + Missense_Mutation SNP G G A rs137897639 TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr16:50138923G>A ENST00000299192.7 + 15 2185 c.1994G>A c.(1993-1995)cGa>cAa p.R665Q HEATR3_ENST00000285767.4_Missense_Mutation_p.R579Q|RP11-429P3.5_ENST00000566770.1_RNA NM_182922.2 NP_891552.1 Q7Z4Q2 HEAT3_HUMAN HEAT repeat containing 3 665 binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 ATGAATTTGCGAAGATTTATT 0.333000 37 64 0 0 0.030466 0 0 PPP1R32 220004 broad.mit.edu 37 11 61249785 61249785 + Missense_Mutation SNP C C T rs34626255 TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr11:61249785C>T ENST00000338608.2 + 3 237 c.112C>T c.(112-114)Cgg>Tgg p.R38W RP11-286N22.8_ENST00000543044.1_3'UTR|RP11-286N22.8_ENST00000544880.1_Intron|PPP1R32_ENST00000432063.2_Missense_Mutation_p.R38W NM_145017.2 NP_659454.2 Q7Z5V6 CK066_HUMAN protein phosphatase 1, regulatory subunit 32 38 TCTGGCAGGTCGGGAGGATTT 0.612000 OREG0021002 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 66 0 0 0.008291 0 0 BMS1 9790 broad.mit.edu 37 10 43318651 43318651 + Missense_Mutation SNP A A G TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr10:43318651A>G ENST00000374518.4 + 20 3281 c.3218A>G c.(3217-3219)aAa>aGa p.K1073R NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1073 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CAGATCAAGAAAGCACTCCGA 0.498000 3 88 0 0 0.004672 0 0 MAP7D2 256714 broad.mit.edu 37 X 20082895 20082895 + Silent SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chrX:20082895C>T ENST00000379651.3 - 2 177 c.159G>A c.(157-159)gaG>gaA p.E53E MAP7D2_ENST00000443379.3_Silent_p.E53E|MAP7D2_ENST00000379643.5_Silent_p.E53E|MAP7D2_ENST00000452324.3_Silent_p.E9E NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 53 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 ATCTCTGCCTCTCATCTGATT 0.408000 8 20 0 0 0.004482 0 0 ZNF274 10782 broad.mit.edu 37 19 58723899 58723899 + Missense_Mutation SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr19:58723899G>A ENST00000326804.4 + 9 1808 c.1349G>A c.(1348-1350)cGc>cAc p.R450H ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Missense_Mutation_p.R345H|ZNF274_ENST00000345813.3_Missense_Mutation_p.R418H NM_133502.1 NP_598009.1 Q96GC6 ZN274_HUMAN zinc finger protein 274 451 viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1) 21 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) AAACGATTGCGCAAACGTGAC 0.428000 5 123 0 0 0.014758 0 0 PIDD 55367 broad.mit.edu 37 11 803327 803327 + Silent SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr11:803327G>A ENST00000347755.5 - 3 697 c.556C>T c.(556-558)Ctg>Ttg p.L186L PIDD_ENST00000411829.2_Silent_p.L186L NM_145886.3|NM_145887.3 NP_665893.2|NP_665894.2 Q9HB75 PIDD_HUMAN p53-induced death domain protein 186 apoptosis|signal transduction cytoplasm|nucleus death receptor binding GCTGGGGGCAGCGTCTGCAGG 0.642000 20 48 0 0 0.012319 0 0 DST 667 broad.mit.edu 37 6 56334934 56334934 + Missense_Mutation SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr6:56334934C>T ENST00000370754.5 - 96 22374 c.22375G>A c.(22375-22377)Gaa>Aaa p.E7459K DST_ENST00000421834.2_Missense_Mutation_p.E5166K|DST_ENST00000446842.2_Missense_Mutation_p.E6955K|DST_ENST00000370788.2_Missense_Mutation_p.E5084K|DST_ENST00000370769.4_Missense_Mutation_p.E7281K|DST_ENST00000361203.3_Missense_Mutation_p.E7170K|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.E4867K Q03001 DYST_HUMAN dystonin 7279 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) ACCTCATCTTCGATTTTGTCG 0.378000 9 35 0 0 0.004482 0 0 LILRA1 11024 broad.mit.edu 37 19 55106777 55106777 + Missense_Mutation SNP C C T rs141328341 TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr19:55106777C>T ENST00000453777.1 + 5 741 c.571C>T c.(571-573)Cgc>Tgc p.R191C LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.R191C|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 191 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GAGCCCGAGTCGCAGGTGGTC 0.567000 60 159 0 0 0.014410 0 0 WDR7 23335 broad.mit.edu 37 18 54424102 54424102 + Missense_Mutation SNP G G C TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr18:54424102G>C ENST00000254442.3 + 15 2489 c.2278G>C c.(2278-2280)Gat>Cat p.D760H WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.D760H NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 760 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) ACACCTCCTTGATGATGAAGA 0.423000 7 25 0 0 0.029380 0 0 THADA 63892 broad.mit.edu 37 2 43804258 43804258 + Missense_Mutation SNP T T G TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr2:43804258T>G ENST00000403856.1 - 11 1087 c.940A>C c.(940-942)Aca>Cca p.T314P THADA_ENST00000415080.2_Missense_Mutation_p.T24P|THADA_ENST00000405975.2_Missense_Mutation_p.T314P|THADA_ENST00000405006.4_Missense_Mutation_p.T314P|THADA_ENST00000402360.2_Missense_Mutation_p.T314P|THADA_ENST00000330266.7_Missense_Mutation_p.T24P|THADA_ENST00000404790.1_Missense_Mutation_p.T314P Q6YHU6 THADA_HUMAN thyroid adenoma associated 314 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) ATGGCAAGTGTCCCCTGACAG 0.542000 OREG0014580 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 13 0 0 0.014758 0 0 NANS 54187 broad.mit.edu 37 9 100843365 100843365 + Splice_Site SNP G G T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr9:100843365G>T ENST00000210444.5 + 5 940 c.e5+1 NANS_ENST00000461452.1_Splice_Site|TRIM14_ENST00000375098.3_Intron|TRIM14_ENST00000478530.1_5'UTR NM_018946.3 NP_061819.2 Q9NR45 SIAS_HUMAN N-acetylneuraminic acid synthase lipopolysaccharide biosynthetic process cytoplasm N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 11 Acute lymphoblastic leukemia(62;0.0559) CAATGAGAAGGTGTGTCCTGC 0.622000 13 31 1.36491e-13 1.5287e-13 0.016723 1 0 DACH1 1602 broad.mit.edu 37 13 72063173 72063173 + Missense_Mutation SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr13:72063173G>A ENST00000305425.4 - 7 2106 c.1684C>T c.(1684-1686)Cct>Tct p.P562S DACH1_ENST00000359684.2_Missense_Mutation_p.P614S|DACH1_ENST00000313174.7_Missense_Mutation_p.P414S|DACH1_ENST00000354591.4_Missense_Mutation_p.P360S NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 612 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) AGTCCATCAGGAAACAGAAAA 0.463000 23 280 0 0 0.021523 0 0 RBM47 54502 broad.mit.edu 37 4 40440734 40440734 + Silent SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr4:40440734C>T ENST00000319592.4 - 4 886 c.177G>A c.(175-177)ccG>ccA p.P59P RBM47_ENST00000381793.2_Silent_p.P59P|RBM47_ENST00000381795.6_Silent_p.P59P|RBM47_ENST00000295971.7_Silent_p.P59P|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Silent_p.P21P A0AV96 RBM47_HUMAN RNA binding motif protein 47 59 nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 CCCAGCCGGGCGGTGGGCCGC 0.711000 3 11 0 0 0.009096 0 0 RYR2 6262 broad.mit.edu 37 1 237670089 237670089 + Missense_Mutation SNP T T C TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr1:237670089T>C ENST00000366574.2 + 23 3010 c.2693T>C c.(2692-2694)aTt>aCt p.I898T RYR2_ENST00000360064.6_Missense_Mutation_p.I896T|RYR2_ENST00000542537.1_Missense_Mutation_p.I882T NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 898 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATGAATAAAATTGAGCTTGGC 0.333000 7 34 0 0 0.006214 0 0 SCUBE2 57758 broad.mit.edu 37 11 9096045 9096045 + Missense_Mutation SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr11:9096045C>T ENST00000457346.2 - 4 574 c.500G>A c.(499-501)tGc>tAc p.C167Y SCUBE2_ENST00000309263.3_Missense_Mutation_p.C167Y|SCUBE2_ENST00000450649.2_Missense_Mutation_p.C167Y|SCUBE2_ENST00000520467.1_Missense_Mutation_p.C167Y Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 167 EGF-like 3; calcium-binding (Potential). extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) GCGGTGAATGCAGGTGTGCTG 0.572000 4 109 0 0 0.009096 0 0 MAP2 4133 broad.mit.edu 37 2 210560329 210560329 + Silent SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr2:210560329G>A ENST00000360351.4 + 7 3941 c.3435G>A c.(3433-3435)ttG>ttA p.L1145L MAP2_ENST00000447185.1_Silent_p.L1141L|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1145 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TGGAGTCCTTGAAAGCTGATG 0.483000 7 44 0 0 0.038147 0 0 ZBTB4 57659 broad.mit.edu 37 17 7370078 7370078 + Missense_Mutation SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr17:7370078C>T ENST00000311403.4 - 3 382 c.43G>A c.(43-45)Gcc>Acc p.A15T ZBTB4_ENST00000380599.4_Missense_Mutation_p.A15T NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 15 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) CGCAGGACGGCGGGGGCATGG 0.657000 5 9 0 0 0.014758 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21795884 21795884 + Missense_Mutation SNP C C A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr14:21795884C>A ENST00000206660.6 + 17 2813 c.2813C>A c.(2812-2814)cCa>cAa p.P938Q RPGRIP1_ENST00000307974.4_Missense_Mutation_p.P297Q|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.P595Q|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.P938Q|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.P264Q|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P900Q Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 938 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) TTCCTGAAACCAGAAGCTCAG 0.473000 10 39 7.48243e-07 8.24835e-07 0.006214 1 0 TRIM5 85363 broad.mit.edu 37 11 5699528 5699528 + Missense_Mutation SNP G G C rs140632799 TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr11:5699528G>C ENST00000305836.5 - 4 952 c.650C>G c.(649-651)tCt>tGt p.S217C TRIM5_ENST00000396853.4_Missense_Mutation_p.S217C|TRIM5_ENST00000396855.3_Missense_Mutation_p.S217C|TRIM5_ENST00000380034.3_Missense_Mutation_p.S217C|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000380027.1_Missense_Mutation_p.S217C|TRIM5_ENST00000396847.3_Missense_Mutation_p.S217C Q9C035 TRIM5_HUMAN tripartite motif containing 5 217 interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) CTCAGTTTCAGAGTTCGTAAG 0.512000 19 79 0 0 0.043863 0 0 CCDC138 165055 broad.mit.edu 37 2 109408186 109408186 + Missense_Mutation SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr2:109408186G>A ENST00000295124.4 + 4 382 c.322G>A c.(322-324)Gag>Aag p.E108K CCDC138_ENST00000412964.2_Missense_Mutation_p.E108K|CCDC138_ENST00000470608.1_3'UTR NM_144978.1 NP_659415.1 Q96M89 CC138_HUMAN coiled-coil domain containing 138 108 endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 14 AACAGAAGAAGAGTTAATTGA 0.269000 36 139 0 0 0.023175 0 0 WDR88 126248 broad.mit.edu 37 19 33647373 33647373 + Nonsense_Mutation SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr19:33647373C>T ENST00000361680.2 + 7 1000 c.922C>T c.(922-924)Cga>Tga p.R308* WDR88_ENST00000355868.3_Nonsense_Mutation_p.R308* Q6ZMY6 WDR88_HUMAN WD repeat domain 88 308 breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 Esophageal squamous(110;0.137) AGGGGAGTTTCGAAACTGTGG 0.463000 24 68 0 0 0.014323 0 0 SLC12A5 57468 broad.mit.edu 37 20 44680470 44680470 + Missense_Mutation SNP C C T rs149667115 TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr20:44680470C>T ENST00000454036.1 + 18 2483 c.2407C>T c.(2407-2409)Cgc>Tgc p.R803C SLC12A5_ENST00000243964.3_Missense_Mutation_p.R780C NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 803 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity p.R780C(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CCGCAACTGGCGCCAGAAGGA 0.622000 45 92 0 0 0.045515 0 0 ZNF761 388561 broad.mit.edu 37 19 53959369 53959369 + RNA SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr19:53959369C>T ENST00000454407.1 + 0 2061 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) GGAAGTCATCCCTTACCTGCC 0.443000 21 82 0 0 0.014323 0 0 ITGA2B 3674 broad.mit.edu 37 17 42452040 42452040 + Missense_Mutation SNP C C A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr17:42452040C>A ENST00000262407.5 - 28 2961 c.2930G>T c.(2929-2931)cGa>cTa p.R977L ITGA2B_ENST00000353281.4_Intron NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 977 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) AGCTTCCCCTCGGGGCAGGCT 0.632000 12 43 2.61681e-11 2.90757e-11 0.020292 1 0 LRRC8A 56262 broad.mit.edu 37 9 131670491 131670491 + Missense_Mutation SNP A A C TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr9:131670491A>C ENST00000259324.5 + 3 1571 c.1048A>C c.(1048-1050)Aag>Cag p.K350Q LRRC8A_ENST00000372600.4_Missense_Mutation_p.K350Q|LRRC8A_ENST00000372599.3_Missense_Mutation_p.K350Q NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 350 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 CTCCCTCAAGAAGTACTCGTT 0.522000 6 38 0 0 0.021553 0 0 CTC1 80169 broad.mit.edu 37 17 8139420 8139420 + Missense_Mutation SNP C C A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr17:8139420C>A ENST00000315684.8 - 6 1040 c.1033G>T c.(1033-1035)Gat>Tat p.D345Y NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 345 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 CTTTCTGGATCCTTCTTGTCC 0.537000 15 116 0.0242445 0.0253301 0.024245 1 0 FAT1 2195 broad.mit.edu 37 4 187542861 187542861 + Nonsense_Mutation SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr4:187542861G>A ENST00000441802.2 - 10 5088 c.4879C>T c.(4879-4881)Cga>Tga p.R1627* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1627 Cadherin 14. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TGGTTACTTCGATCTAATTCT 0.368000 HNSCC(5;0.00058) 10 18 0 0 0.013537 0 0 ERBB3 2065 broad.mit.edu 37 12 56494868 56494868 + Silent SNP T T C TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr12:56494868T>C ENST00000267101.3 + 27 3665 c.3225T>C c.(3223-3225)agT>agC p.S1075S ERBB3_ENST00000415288.2_Silent_p.S1016S|ERBB3_ENST00000549832.1_Silent_p.S195S|ERBB3_ENST00000450146.2_Silent_p.S432S|ERBB3_ENST00000553131.1_Silent_p.S316S NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 1075 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CTGGGAGCAGTGAACGGTGCC 0.483000 6 34 0 0 0.004482 0 0 STAT3 6774 broad.mit.edu 37 17 40485969 40485969 + Missense_Mutation SNP A A G TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr17:40485969A>G ENST00000264657.5 - 9 1208 c.896T>C c.(895-897)gTa>gCa p.V299A STAT3_ENST00000389272.3_Missense_Mutation_p.V201A|STAT3_ENST00000588969.1_Missense_Mutation_p.V299A|STAT3_ENST00000585517.1_Missense_Mutation_p.V299A|STAT3_ENST00000404395.3_Missense_Mutation_p.V299A NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 299 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) CCGGTGCTGTACAATGGGGTC 0.428000 Hyperimmunoglobulin E Recurrent Infection Syndrome 18 53 0 0 0.038395 0 0 USP35 57558 broad.mit.edu 37 11 77921356 77921356 + Missense_Mutation SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr11:77921356C>T ENST00000529308.1 + 10 2716 c.2455C>T c.(2455-2457)Cgg>Tgg p.R819W USP35_ENST00000530267.1_Missense_Mutation_p.R387W|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.R550W|USP35_ENST00000441408.2_Missense_Mutation_p.R405W NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 819 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) GCGCACCATGCGGCGCCGCAA 0.647000 4 136 0 0 0.009096 0 0 PCLO 27445 broad.mit.edu 37 7 82543963 82543963 + Missense_Mutation SNP A A T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr7:82543963A>T ENST00000437081.1 - 2 3499 c.3499T>A c.(3499-3501)Tca>Aca p.S1167T PCLO_ENST00000423517.2_Intron|PCLO_ENST00000333891.8_Intron Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 0 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TAAGAGTTTGAGTTTTGAGAG 0.378000 8 16 0 0 0.038147 0 0 HNRNPL 3191 broad.mit.edu 37 19 39327374 39327374 + Missense_Mutation SNP C C A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr19:39327374C>A ENST00000221419.5 - 13 2124 c.1758G>T c.(1756-1758)caG>caT p.Q586H AC104534.3_ENST00000594769.1_Intron|HNRNPL_ENST00000600873.1_Missense_Mutation_p.Q453H NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 586 nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) AGGAGGCGTGCTGAGCAGTGG 0.453000 4 162 0.00909568 0.00964693 0.009096 1 0 OGFR 11054 broad.mit.edu 37 20 61444556 61444556 + Missense_Mutation SNP C C T TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr20:61444556C>T ENST00000370461.1 + 5 3710 c.1433C>T c.(1432-1434)gCa>gTa p.A478V OGFR_ENST00000370468.3_Intron|OGFR_ENST00000290291.6_Missense_Mutation_p.A530V Q9NZT2 OGFR_HUMAN opioid growth factor receptor 530 regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 17 Breast(26;3.65e-08) GCAGGACCTGCAGGGGACGAG 0.701000 4 15 0 0 0.009096 0 0 PCDH11X 27328 broad.mit.edu 37 X 91090676 91090676 + Missense_Mutation SNP C C A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chrX:91090676C>A ENST00000373094.1 + 1 1018 c.173C>A c.(172-174)aCa>aAa p.T58K PCDH11X_ENST00000406881.1_Missense_Mutation_p.T58K|PCDH11X_ENST00000395337.2_Missense_Mutation_p.T58K|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T58K|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T58K|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T58K|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T58K|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T58K|PCDH11X_ENST00000504220.1_Missense_Mutation_p.T58K NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 58 Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 AAGTCCTTGACAACTGCTATG 0.453000 36 68 9.04072e-19 1.04603e-18 0.015359 1 0 IQCA1 79781 broad.mit.edu 37 2 237374156 237374156 + Silent SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr2:237374156G>A ENST00000409907.3 - 6 1192 c.918C>T c.(916-918)atC>atT p.I306I IQCA1_ENST00000309507.5_Silent_p.I302I|IQCA1_ENST00000431676.2_Silent_p.I306I Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 306 ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 ACCTGCATTCGATGAACCAAT 0.423000 11 30 0 0 0.008291 0 0 SCRIB 23513 broad.mit.edu 37 8 144893098 144893098 + Silent SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr8:144893098G>A ENST00000356994.2 - 11 1257 c.1251C>T c.(1249-1251)ccC>ccT p.P417P SCRIB_ENST00000377533.3_Silent_p.P336P|SCRIB_ENST00000320476.3_Silent_p.P417P NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 417 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GGGGCTGCTGGGGCAGCAAGT 0.667000 5 22 0 0 0.021553 0 0 CERKL 375298 broad.mit.edu 37 2 182423402 182423402 + Silent SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr2:182423402G>A ENST00000410087.3 - 5 811 c.711C>T c.(709-711)agC>agT p.S237S CERKL_ENST00000339098.5_Silent_p.S263S|CERKL_ENST00000374970.2_Intron|CERKL_ENST00000374969.2_Intron|CERKL_ENST00000409440.3_Silent_p.S219S|CERKL_ENST00000479558.1_5'UTR NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 263 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) GGGCTACTTCGCTAGCAGATC 0.433000 15 28 0 0 0.028581 0 0 NEB 4703 broad.mit.edu 37 2 152543963 152543963 + Missense_Mutation SNP G G C TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr2:152543963G>C ENST00000397345.3 - 27 2809 c.2607C>G c.(2605-2607)caC>caG p.H869Q NEB_ENST00000604864.1_Missense_Mutation_p.H869Q|NEB_ENST00000172853.10_Missense_Mutation_p.H869Q|NEB_ENST00000427231.2_Missense_Mutation_p.H869Q|NEB_ENST00000409198.1_Missense_Mutation_p.H869Q|NEB_ENST00000603639.1_Missense_Mutation_p.H869Q NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 869 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TCTTCAAGGAGTGCAGCATCT 0.438000 43 155 0 0 0.014410 0 0 NOTCH2 4853 broad.mit.edu 37 1 120539889 120539893 + Frame_Shift_Del DEL GTGGT GTGGT - TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr1:120539889_120539893delGTGGT ENST00000256646.2 - 4 697_701 c.478_482delACCAC c.(478-483)tfs p.TT160fs NOTCH2_ENST00000602566.1_Frame_Shift_Del_p.TT121fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 160 EGF-like 4. anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GTTGGCCACAGTGGTACAGGTACTT 0.502 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 13 119 --- --- --- --- RPTN 126638 broad.mit.edu 37 1 152128025 152128028 + Frame_Shift_Del DEL TGTC TGTC - TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr1:152128025_152128028delTGTC ENST00000316073.3 - 3 1611_1614 c.1547_1550delGACA c.(1546-1551)aafs p.RQ516fs NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 516 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ACTCTGGCCTTGTCTGTCTGTCTG 0.500 8 1252 --- --- --- --- AC009878.2 0 broad.mit.edu 37 15 26654871 26654871 + RNA DEL A A - rs113031284 TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr15:26654871delA ENST00000451579.1 + 0 173 acttcatctcaaaaaaaaaaa 0.458 2 4 --- --- --- --- ENO3 2027 broad.mit.edu 37 17 4856404 4856404 + Splice_Site DEL G G - TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr17:4856404delG ENST00000323997.6 + 4 372 c.240_splice c.e4+1 p.K81_splice ENO3_ENST00000518175.1_Splice_Site_p.K81_splice|ENO3_ENST00000519584.1_Intron NM_001976.4|NM_053013.3 NP_001967.3|NP_443739.3 P13929 ENOB_HUMAN enolase 3 (beta, muscle) 81 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1) 15 TGCTGCAAAAGGCAAGTGGGG 0.577 18 58 --- --- --- --- ASXL1 171023 broad.mit.edu 37 20 31021696 31021696 + Frame_Shift_Del DEL G G - TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx e389975a-e588-48d4-9ed3-548e8ed9de1c c919d822-b6c9-48d0-b570-0b7b127592f4 g.chr20:31021696delG ENST00000375687.4 + 12 2119 c.1695delG c.(1693-1695)gafs p.E566fs ASXL1_ENST00000306058.5_Frame_Shift_Del_p.E561fs NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 566 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 CCACTAAAGAGGAGCCCAAAG 0.512 """F, N, Mis""" """MDS, CMML""" 31 121 --- --- --- ---