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 METAP1 23173 broad.mit.edu 37 4 99982412 99982412 + Missense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr4:99982412G>C ENST00000296411.6 + 11 1239 c.1105G>C c.(1105-1107)Gaa>Caa p.E369Q METAP1_ENST00000544031.1_Missense_Mutation_p.E319Q NM_015143.2 NP_055958.2 P53582 AMPM1_HUMAN methionyl aminopeptidase 1 369 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding p.E369Q(1) endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(123;3.12e-07) CACTGGCTGTGAAATCCTAAC 0.512000 25 59 0 0 0.076483 0 0 SLC4A8 9498 broad.mit.edu 37 12 51868160 51868160 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr12:51868160C>T ENST00000453097.2 + 15 2156 c.1939C>T c.(1939-1941)Cac>Tac p.H647Y SLC4A8_ENST00000394856.1_Missense_Mutation_p.H594Y|SLC4A8_ENST00000535225.2_Missense_Mutation_p.H594Y|SLC4A8_ENST00000358657.3_Missense_Mutation_p.H674Y|SLC4A8_ENST00000514353.3_Missense_Mutation_p.H594Y NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 647 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity p.H647Y(2)|p.H594Y(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) TCCAAACAATCACACCCTCCA 0.458000 9 30 0 0 0.047766 0 0 H3F3A 3020 broad.mit.edu 37 1 226252162 226252162 + Missense_Mutation SNP A A G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:226252162A>G ENST00000366814.3 + 2 231 c.110A>G c.(109-111)aAg>aGg p.K37R H3F3A_ENST00000366816.1_Missense_Mutation_p.K37R|H3F3A_ENST00000366815.3_Missense_Mutation_p.K37R|H3F3A_ENST00000366813.1_Missense_Mutation_p.K37R H3 histone, family 3A p.K37R(1) central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 123 Breast(184;0.179) GBM - Glioblastoma multiforme(131;0.203) GGAGGGGTGAAGAAACCTCAT 0.448000 Mis glioma OREG0014293 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 28 0 0 0.047766 0 0 HTRA3 94031 broad.mit.edu 37 4 8288305 8288305 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr4:8288305G>A ENST00000307358.2 + 3 707 c.503G>A c.(502-504)cGc>cAc p.R168H HTRA3_ENST00000382512.3_Missense_Mutation_p.R168H NM_053044.3 NP_444272.1 P83110 HTRA3_HUMAN HtrA serine peptidase 3 168 proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity p.R168H(1) central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1) 18 CTGTTTGGCCGCAACGTGCCC 0.662000 16 64 0 0 0.043863 0 0 GTF3C3 9330 broad.mit.edu 37 2 197639909 197639909 + Missense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr2:197639909G>C ENST00000263956.3 - 13 1851 c.1762C>G c.(1762-1764)Ctt>Gtt p.L588V NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 588 transcription factor TFIIIC complex DNA binding|protein binding p.L588V(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 ACTTTAATAAGATAAAGATGC 0.333000 14 37 0 0 0.024245 0 0 FRG1B 284802 broad.mit.edu 37 20 29625947 29625947 + Missense_Mutation SNP T T C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr20:29625947T>C ENST00000278882.3 + 5 571 c.191T>C c.(190-192)aTt>aCt p.I64T FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T p.I64T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCAGATGCAATTGGACCAAGA 0.343000 8 79 0 0 0.058154 0 0 PTPN7 5778 broad.mit.edu 37 1 202124738 202124738 + Splice_Site SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:202124738C>T ENST00000309017.3 - 5 1480 c.e5-1 PTPN7_ENST00000492977.1_Splice_Site|PTPN7_ENST00000367279.4_Splice_Site|PTPN7_ENST00000543735.1_Splice_Site|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000308986.5_Splice_Site NM_001199797.1|NM_002832.3 NP_001186726.1|NP_002823.3 P35236 PTN7_HUMAN protein tyrosine phosphatase, non-receptor type 7 cytosol|internal side of plasma membrane protein binding|protein tyrosine phosphatase activity p.?(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1) 13 CTCTGGGGATCTAGGAAATAA 0.527000 7 20 0 0 0.047766 0 0 EPN2 22905 broad.mit.edu 37 17 19216560 19216560 + Missense_Mutation SNP C C A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr17:19216560C>A ENST00000314728.5 + 7 1599 c.1115C>A c.(1114-1116)cCt>cAt p.P372H EPN2_ENST00000575595.1_Missense_Mutation_p.P80H|EPN2_ENST00000571254.1_Missense_Mutation_p.P308H|EPN2_ENST00000347697.2_Missense_Mutation_p.P315H|EPN2_ENST00000395620.2_Missense_Mutation_p.P315H|EPN2_ENST00000395626.1_Missense_Mutation_p.P372H|EPN2_ENST00000395618.3_Missense_Mutation_p.P87H NM_014964.4 NP_055779.2 O95208 EPN2_HUMAN epsin 2 372 6 X 3 AA repeats of [DE]-P-W. endocytosis lipid binding p.P372H(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) CCAGCGGCTCCTGCGAGTACT 0.657000 141 277 2.0701e-58 2.20131e-58 0.048971 1 0 RASGEF1A 221002 broad.mit.edu 37 10 43701441 43701441 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr10:43701441C>T ENST00000395809.1 - 2 2630 c.124G>A c.(124-126)Gat>Aat p.D42N RASGEF1A_ENST00000395810.1_Missense_Mutation_p.D42N|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.D50N Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 42 N-terminal Ras-GEF. cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity p.D42N(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2) 11 AGGTGTCCATCTTGGAAGATG 0.647000 10 12 0 0 0.058154 0 0 GGCX 2677 broad.mit.edu 37 2 85785670 85785670 + Silent SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr2:85785670C>T ENST00000233838.4 - 4 512 c.432G>A c.(430-432)ctG>ctA p.L144L GGCX_ENST00000430215.3_Silent_p.L87L NM_000821.5 NP_000812.2 P38435 VKGC_HUMAN gamma-glutamyl carboxylase blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity p.L144L(1) endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2) 15 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) ACCAGTATGGCAGCAGGAATA 0.493000 24 44 0 0 0.076483 0 0 DOCK3 1795 broad.mit.edu 37 3 51393912 51393912 + Missense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr3:51393912G>C ENST00000266037.9 + 43 4514 c.4491G>C c.(4489-4491)gaG>gaC p.E1497D NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1497 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding p.E1497D(1)|p.E1486D(1) breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TTGAAGTGGAGAGGAGGGAAC 0.542000 16 47 0 0 0.028581 0 0 ZNF573 126231 broad.mit.edu 37 19 38229523 38229523 + Nonsense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr19:38229523G>C ENST00000339503.4 - 8 2195 c.1694C>G c.(1693-1695)tCa>tGa p.S565* ZNF573_ENST00000536220.1_Nonsense_Mutation_p.S535*|ZNF573_ENST00000392138.1_Nonsense_Mutation_p.S536*|ZNF573_ENST00000357309.3_Nonsense_Mutation_p.S535*|ZNF573_ENST00000590414.2_Nonsense_Mutation_p.S623* NM_152360.3 NP_689573.3 Q86YE8 ZN573_HUMAN zinc finger protein 573 603 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S565*(1) NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) AACAAGGTTTGAAGCACGACT 0.413000 46 77 0 0 0.042209 0 0 UFSP2 55325 broad.mit.edu 37 4 186334999 186334999 + Missense_Mutation SNP G G T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr4:186334999G>T ENST00000264689.6 - 7 828 c.712C>A c.(712-714)Cac>Aac p.H238N NM_018359.3 NP_060829.2 Q9NUQ7 UFSP2_HUMAN UFM1-specific peptidase 2 238 endoplasmic reticulum|nucleus small conjugating protein-specific protease activity p.H238N(1) endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166) GGTCTGTCGTGAGGCAGATTG 0.333000 26 31 1.1804e-14 1.22924e-14 0.091800 1 0 IQGAP3 128239 broad.mit.edu 37 1 156503868 156503868 + Nonsense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:156503868G>C ENST00000361170.2 - 30 3816 c.3806C>G c.(3805-3807)tCa>tGa p.S1269* NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1269 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity p.S1269*(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CACCATGTCTGAGTACTCGTC 0.607000 26 47 0 0 0.030593 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25168432 25168432 + RNA SNP T T C rs149337771 by1000genomes TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr13:25168432T>C ENST00000453498.1 + 0 1104 TPTE2P6_ENST00000440905.1_RNA TTGAAACAGCTGGTGTATTAA 0.373000 3 23 0 0 0.014758 0 0 CDC14A 8556 broad.mit.edu 37 1 100920981 100920981 + Silent SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:100920981C>T ENST00000336454.3 + 8 895 c.540C>T c.(538-540)ttC>ttT p.F180F CDC14A_ENST00000361544.6_Silent_p.F180F|CDC14A_ENST00000370125.2_Intron|CDC14A_ENST00000544534.1_Silent_p.F180F|CDC14A_ENST00000370124.3_Silent_p.F180F|CDC14A_ENST00000542213.1_Silent_p.F122F NM_003672.3 NP_003663.2 Q9UNH5 CC14A_HUMAN cell division cycle 14A 180 B. cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.F180F(1) breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1) 31 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) ATGGTGACTTCAACTGGATTG 0.303000 27 38 0 0 0.108266 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55329821 55329821 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr19:55329821G>A ENST00000391728.4 + 3 155 c.122G>A c.(121-123)cGa>cAa p.R41Q KIR3DL1_ENST00000541392.1_Missense_Mutation_p.R41Q|KIR3DL1_ENST00000358178.4_Intron|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.R41Q|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.R41Q|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.R41Q NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 p.R41Q(2) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) GTGGTGCCTCGAGGAGGACAC 0.542000 37 54 0 0 0.098360 0 0 ZNF516 9658 broad.mit.edu 37 18 74091604 74091604 + Silent SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr18:74091604G>A ENST00000443185.2 - 4 2783 c.2466C>T c.(2464-2466)ctC>ctT p.L822L ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 822 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L822L(1) central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CTTTGCCACCGAGGGCAGGCG 0.622000 31 72 0 0 0.041601 0 0 B3GAT2 135152 broad.mit.edu 37 6 71665793 71665793 + Missense_Mutation SNP T T C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr6:71665793T>C ENST00000230053.6 - 1 948 c.340A>G c.(340-342)Atc>Gtc p.I114V NM_080742.2 NP_542780.1 Q9NPZ5 B3GA2_HUMAN beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) 114 carbohydrate biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding p.I114V(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 TCCACCAGGATCCAGTGCAGC 0.721000 5 10 0 0 0.021553 0 0 TTN 7273 broad.mit.edu 37 2 179638034 179638034 + Missense_Mutation SNP C C G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr2:179638034C>G ENST00000589042.1 - 33 7881 c.7657G>C c.(7657-7659)Gag>Cag p.E2553Q TTN_ENST00000342992.6_Missense_Mutation_p.E2553Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E2553Q|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E2507Q|TTN_ENST00000460472.2_Missense_Mutation_p.E2507Q|TTN_ENST00000342175.6_Missense_Mutation_p.E2507Q|TTN_ENST00000591111.1_Missense_Mutation_p.E2553Q NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2287 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E2507Q(3)|p.E2553Q(3) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGCTCAACCTCAAACACCACA 0.353000 18 33 0 0 0.049695 0 0 BEST1 7439 broad.mit.edu 37 11 61727388 61727388 + Missense_Mutation SNP A A G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr11:61727388A>G ENST00000449131.2 + 8 879 c.793A>G c.(793-795)Atg>Gtg p.M265V BEST1_ENST00000301774.9_Intron|FTH1_ENST00000529191.1_Silent_p.H42H|BEST1_ENST00000378042.3_Missense_Mutation_p.M238V|BEST1_ENST00000378043.4_Missense_Mutation_p.M325V|BEST1_ENST00000526988.1_Silent_p.R286R|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000435278.2_Intron|FTH1_ENST00000529631.1_Intron NM_001139443.1 NP_001132915.1 O76090 BEST1_HUMAN bestrophin 1 325 response to stimulus|transepithelial chloride transport|visual perception basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction chloride channel activity p.M265V(1)|p.M325V(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2) 25 TGTGGATGAGATGCACCAGGA 0.587000 2 7 0 0 0.004672 0 0 RNF5 6048 broad.mit.edu 37 6 32148014 32148014 + Silent SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr6:32148014C>T ENST00000375094.3 + 6 612 c.454C>T c.(454-456)Ctg>Ttg p.L152L RNF5_ENST00000427134.2_Intron NM_006913.3 NP_008844.1 Q99942 RNF5_HUMAN ring finger protein 5, E3 ubiquitin protein ligase 152 ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding p.L152L(1) endometrium(1)|lung(7)|urinary_tract(2) 10 AGGTGTGGATCTGGGACAGGG 0.562000 83 175 0 0 0.048971 0 0 ARL13B 200894 broad.mit.edu 37 3 93761858 93761858 + Splice_Site SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr3:93761858G>C ENST00000535334.1 + 6 1012 c.e6-1 ARL13B_ENST00000471138.1_Splice_Site|ARL13B_ENST00000539730.1_Splice_Site|ARL13B_ENST00000303097.7_Splice_Site|ARL13B_ENST00000394222.3_Splice_Site NM_001174151.1 NP_001167622.1 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 13B GTP binding p.?(2) endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2) 10 TTTTTTGTTAGAATGAAGGAA 0.313000 2 6 0 0 0.004672 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 9 30 0 0 0.069234 0 0 POLI 11201 broad.mit.edu 37 18 51818253 51818253 + Nonsense_Mutation SNP C C T rs56152401 TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr18:51818253C>T ENST00000579534.1 + 9 1392 c.1249C>T c.(1249-1251)Cga>Tga p.R417* POLI_ENST00000579434.1_Nonsense_Mutation_p.R314*|POLI_ENST00000217800.5_Nonsense_Mutation_p.R291*|POLI_ENST00000406285.3_Nonsense_Mutation_p.R338*|POLI_ENST00000582366.1_3'UTR NM_007195.2 NP_009126.2 Q9UNA4 POLI_HUMAN polymerase (DNA directed) iota 417 DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding p.R392*(1)|p.R417*(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) GAAACTTTTTCGAAATATGGT 0.308000 DNA polymerases (catalytic subunits) 10 41 0 0 0.069234 0 0 SNRPB2 6629 broad.mit.edu 37 20 16719531 16719531 + Nonsense_Mutation SNP C C G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr20:16719531C>G ENST00000246071.6 + 5 629 c.413C>G c.(412-414)tCa>tGa p.S138* SNRPB2_ENST00000377943.5_Nonsense_Mutation_p.S138* NM_003092.4 NP_003083.1 P08579 RU2B_HUMAN small nuclear ribonucleoprotein polypeptide B 138 catalytic step 2 spliceosome|nucleoplasm|U2 snRNP nucleotide binding|protein binding|RNA binding p.S138*(1) large_intestine(2)|lung(2)|urinary_tract(1) 5 CAAGGAAATTCAACACCAAAT 0.338000 8 22 0 0 0.069234 0 0 SRPK3 26576 broad.mit.edu 37 X 153049816 153049816 + Silent SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chrX:153049816C>T ENST00000489426.1 + 17 3782 c.1416C>T c.(1414-1416)atC>atT p.I472I SRPK3_ENST00000370104.1_Silent_p.I404I|SRPK3_ENST00000370108.3_Silent_p.I372I|SRPK3_ENST00000393786.3_Silent_p.I371I|SRPK3_ENST00000370101.3_Silent_p.I405I|SRPK3_ENST00000370100.1_Silent_p.I330I Q9UPE1 SRPK3_HUMAN SRSF protein kinase 3 405 Protein kinase. cell differentiation|muscle organ development|muscle tissue development ATP binding|protein serine/threonine kinase activity p.I371I(1)|p.I472I(1) breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1) 13 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) AGATCAAGATCAAGATCGCAG 0.607000 8 6 0 0 0.038147 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 58 0 0 0.004672 0 0 FRG1B 284802 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 4 105 0 0 0.021553 0 0 UBR4 23352 broad.mit.edu 37 1 19441918 19441918 + Silent SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:19441918C>T ENST00000375267.2 - 74 11040 c.11037G>A c.(11035-11037)gaG>gaA p.E3679E UBR4_ENST00000375254.3_Silent_p.E3679E|UBR4_ENST00000375218.3_Silent_p.E94E|UBR4_ENST00000375217.2_Silent_p.E3672E|UBR4_ENST00000375226.2_Silent_p.E3655E Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 3679 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding p.E3679E(1) breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GGTACACATTCTCTCCACAGT 0.517000 17 35 0 0 0.038395 0 0 KIAA0368 23392 broad.mit.edu 37 9 114152334 114152334 + Missense_Mutation SNP A A C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr9:114152334A>C ENST00000259335.4 - 31 3742 c.3743T>G c.(3742-3744)cTt>cGt p.L1248R KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Missense_Mutation_p.L1070R NM_001080398.1 NP_001073867.1 KIAA0368 p.L1248R(1) NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 TGGCTGGCTAAGATCACTTGC 0.398000 6 6 0 0 0.029380 0 0 OLFML2B 25903 broad.mit.edu 37 1 161968053 161968053 + Missense_Mutation SNP T T A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:161968053T>A ENST00000294794.3 - 6 1459 c.1036A>T c.(1036-1038)Acc>Tcc p.T346S OLFML2B_ENST00000367940.2_Missense_Mutation_p.T347S NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 346 p.T346S(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GGCCTCCGGGTGACACTGGTC 0.567000 26 70 0 0 0.083992 0 0 LAMA2 3908 broad.mit.edu 37 6 129691106 129691106 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr6:129691106G>A ENST00000421865.2 + 34 4979 c.4930G>A c.(4930-4932)Gtg>Atg p.V1644M NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1644 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.V1644M(1) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GAATACACTCGTGACCGAAAT 0.433000 29 31 0 0 0.034045 0 0 CRHR2 1395 broad.mit.edu 37 7 30721547 30721547 + Silent SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr7:30721547G>C ENST00000471646.1 - 2 630 c.213C>G c.(211-213)gtC>gtG p.V71V CRHR2_ENST00000348438.4_Silent_p.V98V|CRHR2_ENST00000506074.2_Silent_p.V71V|CRHR2_ENST00000341843.4_Silent_p.V57V NM_001202482.1|NM_001202483.1|NM_001883.4 NP_001189411.1|NP_001189412.1|NP_001874.2 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 71 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding p.V71V(1)|p.V57V(1) breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TGTTGTACTTGACGCCGTTGA 0.647000 10 17 0 0 0.105934 0 0 UBTF 7343 broad.mit.edu 37 17 42289089 42289089 + Missense_Mutation SNP T T G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr17:42289089T>G ENST00000302904.4 - 10 1424 c.932A>C c.(931-933)gAg>gCg p.E311A UBTF_ENST00000343638.5_Missense_Mutation_p.E274A|UBTF_ENST00000527034.1_Missense_Mutation_p.E274A|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.E274A|UBTF_ENST00000529383.1_Missense_Mutation_p.E311A|UBTF_ENST00000533177.1_Missense_Mutation_p.E274A|UBTF_ENST00000393606.3_Missense_Mutation_p.E274A|UBTF_ENST00000436088.1_Missense_Mutation_p.E311A P17480 UBF1_HUMAN upstream binding transcription factor, RNA polymerase I 311 positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding p.E311A(1) breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) GGCCATGAGCTCTGCGCAGTA 0.617000 12 51 0 0 0.080935 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209470 140209470 + Silent SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr5:140209470C>T ENST00000529310.1 + 1 1908 c.1794C>T c.(1792-1794)gaC>gaT p.D598D PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_018909.2|NM_031848.2|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 p.D598D(2) NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCAGTTGACGCCGACTCAG 0.667000 3 54 0 0 0.009096 0 0 SMPD1 6609 broad.mit.edu 37 11 6413286 6413286 + Missense_Mutation SNP C C T rs142476839 TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr11:6413286C>T ENST00000342245.4 + 2 1159 c.991C>T c.(991-993)Ccc>Tcc p.P331S SMPD1_ENST00000527275.1_Missense_Mutation_p.P330S|SMPD1_ENST00000299397.3_Missense_Mutation_p.P331S|SMPD1_ENST00000356761.2_Missense_Mutation_p.P331S|SMPD1_ENST00000533196.1_3'UTR NM_000543.4|NM_001007593.2 NP_000534.3|NP_001007594.2 P17405 ASM_HUMAN sphingomyelin phosphodiesterase 1, acid lysosomal 329 cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction lysosome hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity p.P331S(2) breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) Desipramine(DB01151) TAGCTTCCCTCCCCCCTTCAT 0.612000 13 25 0 0 0.024245 0 0 FAM120A 23196 broad.mit.edu 37 9 96320268 96320268 + Nonsense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr9:96320268C>T ENST00000277165.6 + 14 2838 c.2644C>T c.(2644-2646)Cag>Tag p.Q882* FAM120A_ENST00000333936.5_Nonsense_Mutation_p.Q910*|FAM120A_ENST00000340893.4_Nonsense_Mutation_p.Q882* NM_014612.3 NP_055427.2 Q9NZB2 F120A_HUMAN family with sequence similarity 120A 882 RNA binding. cytoplasm|plasma membrane RNA binding p.Q882*(1) endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CCCACCCTCTCAGGGCAGGGG 0.602000 10 3 0 0 0.069234 0 0 FAM63A 55793 broad.mit.edu 37 1 150974829 150974829 + Missense_Mutation SNP C C G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:150974829C>G ENST00000361936.5 - 3 1219 c.265G>C c.(265-267)Gag>Cag p.E89Q FAM63A_ENST00000361738.6_Missense_Mutation_p.E137Q|FAM63A_ENST00000312210.5_Intron|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000493834.2_5'UTR NM_018379.4 NP_060849 Q8N5J2 FA63A_HUMAN family with sequence similarity 63, member A 89 protein binding p.E89Q(1) breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CTTATTGTCTCTACTTCAGGC 0.582000 23 39 0 0 0.069288 0 0 USP20 10868 broad.mit.edu 37 9 132614875 132614875 + Missense_Mutation SNP T T G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr9:132614875T>G ENST00000315480.4 + 3 199 c.41T>G c.(40-42)aTa>aGa p.I14R USP20_ENST00000372429.3_Missense_Mutation_p.I14R|USP20_ENST00000358355.1_Missense_Mutation_p.I14R Q9Y2K6 UBP20_HUMAN ubiquitin specific peptidase 20 14 endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding p.I14R(3) breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1) 11 Ovarian(14;0.00556) CTTGACTCCATAGGAGAGGTG 0.577000 2 4 0 0 0.004672 0 0 CYP26A1 1592 broad.mit.edu 37 10 94836820 94836820 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr10:94836820G>A ENST00000371531.1 + 7 1424 c.1046G>A c.(1045-1047)cGa>cAa p.R349Q CYP26A1_ENST00000394139.1_Missense_Mutation_p.R349Q|CYP26A1_ENST00000224356.4_Missense_Mutation_p.R418Q NM_057157.2 NP_476498.1 O43174 CP26A_HUMAN cytochrome P450, family 26, subfamily A, polypeptide 1 418 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding p.R349Q(1) breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Colorectal(252;0.122) AATCCTGACCGATTCATGCTG 0.448000 17 51 0 0 0.033300 0 0 SNX33 257364 broad.mit.edu 37 15 75941596 75941596 + Missense_Mutation SNP T T G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr15:75941596T>G ENST00000308527.5 + 1 1350 c.153T>G c.(151-153)ttT>ttG p.F51L NM_153271.1 NP_695003.1 Q8WV41 SNX33_HUMAN sorting nexin 33 51 SH3. cell communication phosphatidylinositol binding|protein binding p.F51L(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 19 CAGGGCTCTTTCCTGCCTCTT 0.587000 23 61 0 0 0.076483 0 0 ELP5 23587 broad.mit.edu 37 17 7162193 7162193 + Missense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr17:7162193G>C ENST00000396628.2 + 7 1001 c.784G>C c.(784-786)Gag>Cag p.E262Q RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000356683.2_3'UTR|ELP5_ENST00000354429.2_Missense_Mutation_p.E262Q|ELP5_ENST00000574993.1_3'UTR|ELP5_ENST00000396627.2_Missense_Mutation_p.E262Q NM_203414.1 NP_981959.1 elongator acetyltransferase complex subunit 5 p.E262Q(1) GTCCAAGAAAGAGAGAGAAGC 0.512000 17 21 0 0 0.028581 0 0 MAB21L3 126868 broad.mit.edu 37 1 116670903 116670903 + Silent SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:116670903G>A ENST00000369500.3 + 6 1063 c.798G>A c.(796-798)ctG>ctA p.L266L NM_152367.2 NP_689580.2 Q8N8X9 MB213_HUMAN mab-21-like 3 (C. elegans) 266 p.L266L(1) breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1) 19 TGAGGCACCTGAAGGAGGACA 0.587000 4 23 0 0 0.009096 0 0 TFRC 7037 broad.mit.edu 37 3 195794923 195794923 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr3:195794923C>T ENST00000360110.4 - 8 1049 c.880G>A c.(880-882)Gaa>Aaa p.E294K TFRC_ENST00000420415.1_Missense_Mutation_p.E213K|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.E12K|TFRC_ENST00000392396.3_Missense_Mutation_p.E294K NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 294 PA. cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity p.E294K(1) NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) AATGAAAGTTCTGCGTTAACA 0.353000 T BCL6 NHL 7 33 0 0 0.029380 0 0 COL19A1 1310 broad.mit.edu 37 6 70875870 70875870 + Missense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr6:70875870G>C ENST00000322773.4 + 37 2540 c.2438G>C c.(2437-2439)gGa>gCa p.G813A COL19A1_ENST00000393344.1_Missense_Mutation_p.G435A NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 813 Triple-helical region 4 (COL4). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging p.G813A(1) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 GGACCACCTGGACCACCTGTG 0.428000 3 136 0 0 0.004672 0 0 HPR 3250 broad.mit.edu 37 16 72110371 72110371 + Silent SNP C C G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr16:72110371C>G ENST00000540303.2 + 5 470 c.438C>G c.(436-438)ctC>ctG p.L146L HPR_ENST00000228226.8_Silent_p.L183L|HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Silent_p.L146L NM_020995.3 NP_066275.3 P00739 HPTR_HUMAN haptoglobin-related protein 146 Peptidase S1. proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity p.L146L(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2) 20 Ovarian(137;0.125) CTAAAAATCTCTTCCTGAACC 0.478000 13 24 0 0 0.093190 0 0 BRWD1 54014 broad.mit.edu 37 21 40604198 40604198 + Nonsense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr21:40604198G>A ENST00000342449.3 - 25 2983 c.2905C>T c.(2905-2907)Cga>Tga p.R969* BRWD1_ENST00000333229.2_Nonsense_Mutation_p.R969*|BRWD1_ENST00000380800.3_Nonsense_Mutation_p.R969* NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 969 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus p.R969*(2) cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TGACCCTGTCGAAAATATATT 0.308000 6 33 0 0 0.029380 0 0 NBPF1 55672 broad.mit.edu 37 1 16918403 16918403 + Silent SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:16918403G>C ENST00000430580.2 - 7 1001 c.114C>G c.(112-114)ctC>ctG p.L38L NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 38 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) ATTTCTCTTTGAGGTTTCTGA 0.468000 60 952 0 0 0.048971 0 0 IFT140 9742 broad.mit.edu 37 16 1616196 1616196 + Missense_Mutation SNP C C G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr16:1616196C>G ENST00000426508.2 - 16 2230 c.1867G>C c.(1867-1869)Gag>Cag p.E623Q IFT140_ENST00000439987.2_5'UTR NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 623 p.E623Q(1) breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) GACAGCGTCTCTCTCCGATCA 0.428000 57 135 0 0 0.048971 0 0 PTPN14 5784 broad.mit.edu 37 1 214557171 214557171 + Missense_Mutation SNP G G A rs139115216 by1000genomes TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:214557171G>A ENST00000366956.5 - 13 2221 c.2027C>T c.(2026-2028)cCg>cTg p.P676L PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 676 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding p.P676L(1) NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CTCCTCGGGCGGTCCCTGCTC 0.632000 16 27 0 0 0.028581 0 0 ELP5 23587 broad.mit.edu 37 17 7162148 7162148 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr17:7162148G>A ENST00000396628.2 + 7 956 c.739G>A c.(739-741)Gat>Aat p.D247N RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000356683.2_3'UTR|ELP5_ENST00000354429.2_Missense_Mutation_p.D247N|ELP5_ENST00000574993.1_3'UTR|ELP5_ENST00000396627.2_Missense_Mutation_p.D247N NM_203414.1 NP_981959.1 elongator acetyltransferase complex subunit 5 p.D247N(1) CCTACAGGTGGATCCCACAAC 0.502000 18 20 0 0 0.033300 0 0 ARL13B 200894 broad.mit.edu 37 3 93761880 93761880 + Missense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr3:93761880G>C ENST00000535334.1 + 6 1034 c.511G>C c.(511-513)Gag>Cag p.E171Q ARL13B_ENST00000471138.1_Missense_Mutation_p.E274Q|ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000303097.7_Missense_Mutation_p.E167Q|ARL13B_ENST00000394222.3_Missense_Mutation_p.E274Q NM_001174151.1 NP_001167622.1 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 13B 274 GTP binding p.E274Q(1)|p.E167Q(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2) 10 ACTTGAAAGAGAGAAAAAAAA 0.328000 4 10 0 0 0.009096 0 0 CPE 1363 broad.mit.edu 37 4 166414359 166414359 + Nonsense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr4:166414359C>T ENST00000402744.4 + 7 1430 c.1150C>T c.(1150-1152)Caa>Taa p.Q384* NM_001873.2 NP_001864.1 P16870 CBPE_HUMAN carboxypeptidase E 384 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding p.Q384*(1) endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCGAGACCTTCAAGGTAACCC 0.408000 OREG0016391 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 36 0 0 0.028581 0 0 IL2RG 3561 broad.mit.edu 37 X 70331308 70331308 + Missense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chrX:70331308G>C ENST00000374202.2 - 1 173 c.82C>G c.(82-84)Ctg>Gtg p.L28V NM_000206.2 NP_000197.1 P31785 IL2RG_HUMAN interleukin 2 receptor, gamma 28 immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding p.L28V(2) breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 15 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) TTGGGCGTCAGAATTGTCGTG 0.562000 Severe Combined Immunodeficiency, X-linked 12 9 0 0 0.093190 0 0 ARMC3 219681 broad.mit.edu 37 10 23321935 23321935 + Nonsense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr10:23321935C>T ENST00000298032.5 + 18 2476 c.2392C>T c.(2392-2394)Cga>Tga p.R798* ARMC3_ENST00000409983.3_Nonsense_Mutation_p.R791*|ARMC3_ENST00000376528.4_Nonsense_Mutation_p.R535* NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 798 binding p.R798*(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CTTCTACCATCGAGCTTTGCT 0.363000 20 43 0 0 0.076483 0 0 BMI1 648 broad.mit.edu 37 10 22616891 22616891 + Missense_Mutation SNP C C G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr10:22616891C>G ENST00000376663.3 + 6 834 c.329C>G c.(328-330)tCt>tGt p.S110C COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.S253C NM_005180.8 NP_005171.4 BMI1 polycomb ring finger oncogene p.S110C(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1) 12 GCCAATGGCTCTAATGAAGAT 0.308000 15 63 0 0 0.028581 0 0 HMCN1 83872 broad.mit.edu 37 1 186113383 186113383 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:186113383G>A ENST00000271588.4 + 90 14232 c.14003G>A c.(14002-14004)aGa>aAa p.R4668K HMCN1_ENST00000367492.2_Missense_Mutation_p.R4668K NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4668 TSP type-1 3. response to stimulus|visual perception basement membrane calcium ion binding p.R4668K(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ACAAGAGCAAGACTTTGTAAT 0.478000 37 106 0 0 0.080422 0 0 ZNF777 27153 broad.mit.edu 37 7 149129112 149129112 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr7:149129112C>T ENST00000247930.4 - 6 2574 c.2251G>A c.(2251-2253)Gcc>Acc p.A751T NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A751T(1) large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) TCGGGGCAGGCGTGCGGCCGC 0.682000 28 44 0 0 0.030593 0 0 SNHG14 104472715 broad.mit.edu 37 15 25470410 25470410 + RNA SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr15:25470410C>T ENST00000453082.2 + 0 1061 SNORD115-30_ENST00000364117.1_RNA NR_003343.1 AAATCATGCTCAATAGGATTA 0.498000 67 152 0 0 0.048971 0 0 PSEN2 5664 broad.mit.edu 37 1 227071519 227071519 + Silent SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:227071519G>A ENST00000366782.1 + 5 854 c.354G>A c.(352-354)gcG>gcA p.A118A PSEN2_ENST00000340188.4_Silent_p.A85A|PSEN2_ENST00000366783.3_Silent_p.A85A|PSEN2_ENST00000422240.2_Silent_p.A85A|PSEN2_ENST00000391872.2_Silent_p.A118A P49810 PSN2_HUMAN presenilin 2 (Alzheimer disease 4) 85 amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc aspartic-type endopeptidase activity|protein binding p.A85A(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1) 20 Prostate(94;0.0771) AATACGGAGCGAAGCACGTGA 0.582000 19 50 0 0 0.049695 0 0 TET2 54790 broad.mit.edu 37 4 106156625 106156625 + Nonsense_Mutation SNP C C G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr4:106156625C>G ENST00000540549.1 + 3 2386 c.1526C>G c.(1525-1527)tCa>tGa p.S509* TET2_ENST00000413648.2_Nonsense_Mutation_p.S509*|TET2_ENST00000380013.4_Nonsense_Mutation_p.S509*|TET2_ENST00000305737.2_Nonsense_Mutation_p.S509*|TET2_ENST00000394764.1_Nonsense_Mutation_p.S509*|TET2_ENST00000545826.1_Nonsense_Mutation_p.S509*|TET2_ENST00000513237.1_Nonsense_Mutation_p.S530* Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 509 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.S509*(6) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) AGACCAATGTCAGAACACCTC 0.433000 """Mis N, F""" MDS 11 37 0 0 0.069234 0 0 IL17B 27190 broad.mit.edu 37 5 148754143 148754143 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr5:148754143C>T ENST00000261796.3 - 3 382 c.332G>A c.(331-333)cGt>cAt p.R111H RP11-394O4.3_ENST00000521756.1_RNA|IL17B_ENST00000505432.1_5'UTR NM_014443.2 NP_055258.1 Q9UHF5 IL17B_HUMAN interleukin 17B 111 cell-cell signaling|immune response|inflammatory response extracellular space cytokine activity|signal transducer activity p.R111H(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGGGGATACGGCTGGGGTC 0.627000 6 21 0 0 0.021553 0 0 VPS13D 55187 broad.mit.edu 37 1 12422812 12422812 + Missense_Mutation SNP A A T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:12422812A>T ENST00000358136.3 + 51 10308 c.10178A>T c.(10177-10179)gAt>gTt p.D3393V VPS13D_ENST00000356315.4_Missense_Mutation_p.D3368V NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3392 protein localization p.D3393V(1) NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CGATACATTGATACCTGCATG 0.428000 68 142 0 0 0.048971 0 0 DDIT4 54541 broad.mit.edu 37 10 74034918 74034918 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr10:74034918C>T ENST00000307365.3 + 3 872 c.671C>T c.(670-672)tCg>tTg p.S224L RP11-442H21.2_ENST00000491934.2_RNA NM_019058.2 NP_061931.1 Q9NX09 DDIT4_HUMAN DNA-damage-inducible transcript 4 224 apoptosis p.S224L(1) cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1) 12 CTGTACAGCTCGGAACAGCTG 0.567000 OREG0020262 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 10 0 0 0.014758 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160253617 160253617 + Silent SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr4:160253617C>T ENST00000264431.4 + 11 1839 c.1420C>T c.(1420-1422)Cta>Tta p.L474L NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 474 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity p.L462L(1) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) TAAAGAACTTCTAACAAGATT 0.358000 18 43 0 0 0.049695 0 0 SP3 6670 broad.mit.edu 37 2 174783487 174783487 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr2:174783487C>T ENST00000310015.6 - 5 2196 c.1666G>A c.(1666-1668)Gat>Aat p.D556N SP3_ENST00000455789.2_Missense_Mutation_p.D503N|SP3_ENST00000418194.2_Missense_Mutation_p.D488N NM_001172712.1|NM_003111.4 NP_001166183.1|NP_003102.1 Q02447 SP3_HUMAN Sp3 transcription factor 556 Repressor domain. negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding p.D556N(1) EWSR1/SP3(3) NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.185) TCTTCAGGATCAGGTTCTTCT 0.403000 17 39 0 0 0.033300 0 0 CYP2E1 1571 broad.mit.edu 37 10 135350733 135350733 + Silent SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr10:135350733C>T ENST00000463117.2 + 9 1406 c.1134C>T c.(1132-1134)ttC>ttT p.F378F SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Silent_p.F378F P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, polypeptide 1 378 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding p.F378F(1) NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) ACACCATTTTCAGAGGATACC 0.542000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 19 27 0 0 0.055883 0 0 CACNA1S 779 broad.mit.edu 37 1 201060841 201060841 + Silent SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:201060841G>C ENST00000362061.3 - 5 847 c.621C>G c.(619-621)gtC>gtG p.V207V CACNA1S_ENST00000367338.3_Silent_p.V207V NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 207 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity p.V207V(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CATAGATGATGACCATAAAGA 0.562000 14 45 0 0 0.105934 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011400 46011400 + Silent SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr21:46011400G>A ENST00000400368.1 - 1 986 c.966C>T c.(964-966)tcC>tcT p.S322S TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 322 29 X 5 AA repeats of C-C-X(3). keratin filament p.S322S(5) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 AGGCACCACAGGAGGGGACGG 0.692000 3 49 0 0 0.014758 0 0 WBP5 51186 broad.mit.edu 37 X 102612724 102612724 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chrX:102612724G>A ENST00000372661.3 + 3 423 c.112G>A c.(112-114)Gag>Aag p.E38K WBP5_ENST00000372656.3_Missense_Mutation_p.E38K NM_001006612.1|NM_016303.2 NP_001006613.1|NP_057387.1 Q9UHQ7 WPB5_HUMAN WW domain binding protein 5 38 Glu-rich. p.E38K(1) breast(2)|endometrium(2)|large_intestine(2)|ovary(1)|urinary_tract(1) 8 GCTAGAGGAGGAGGCCAAAGC 0.408000 21 13 0 0 0.055883 0 0 MSANTD4 84437 broad.mit.edu 37 11 105880796 105880796 + Missense_Mutation SNP T T C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr11:105880796T>C ENST00000301919.4 - 3 1919 c.504A>G c.(502-504)atA>atG p.I168M NM_032424.1 NP_115800.1 Q8NCY6 K1826_HUMAN Myb/SANT-like DNA-binding domain containing 4 with coiled-coils 168 nucleus p.I168M(1) TGGAATCTGGTATGACGGATG 0.393000 35 57 0 0 0.064281 0 0 VPS8 23355 broad.mit.edu 37 3 184557485 184557485 + Splice_Site SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr3:184557485G>A ENST00000287546.4 + 7 651 c.e7-1 VPS8_ENST00000446204.2_Splice_Site|VPS8_ENST00000424463.2_3'UTR|VPS8_ENST00000437079.3_Splice_Site|VPS8_ENST00000436792.2_Splice_Site NM_015303.3 NP_056118.2 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog (S. cerevisiae) zinc ion binding p.?(1) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) TTTGTTTTCAGGCAGTATCCA 0.358000 7 12 0 0 0.038147 0 0 TBXAS1 6916 broad.mit.edu 37 7 139636073 139636073 + Silent SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr7:139636073G>A ENST00000263552.6 + 9 958 c.420G>A c.(418-420)ctG>ctA p.L140L TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000414508.2_Silent_p.L140L|TBXAS1_ENST00000416849.2_Silent_p.L140L|TBXAS1_ENST00000448866.1_Silent_p.L139L|TBXAS1_ENST00000458722.1_Silent_p.L139L|TBXAS1_ENST00000411653.1_Silent_p.L139L|TBXAS1_ENST00000436047.2_Silent_p.L140L|TBXAS1_ENST00000425687.1_Silent_p.L72L|TBXAS1_ENST00000336425.5_Silent_p.L139L NM_001130966.2 NP_001124438 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 139 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity p.L140L(2) breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) GAGGTGCCCTGATGTCTGCTT 0.473000 65 134 0 0 0.048971 0 0 PUS7L 83448 broad.mit.edu 37 12 44124323 44124323 + Silent SNP T T C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr12:44124323T>C ENST00000416848.2 - 9 2450 c.1962A>G c.(1960-1962)caA>caG p.Q654Q PUS7L_ENST00000431332.3_Silent_p.Q341Q|PUS7L_ENST00000344862.5_Silent_p.Q654Q|PUS7L_ENST00000551923.1_Silent_p.Q654Q NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 654 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding p.Q654Q(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) CTTCCATTAGTTGGTATGAGA 0.368000 34 92 0 0 0.074837 0 0 NLRP8 126205 broad.mit.edu 37 19 56466176 56466176 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr19:56466176C>T ENST00000291971.3 + 3 823 c.752C>T c.(751-753)aCg>aTg p.T251M NLRP8_ENST00000590542.1_Missense_Mutation_p.T251M NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 251 NACHT. cytoplasm ATP binding p.T251M(1) breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GTGAACCAGACGACAGACCAG 0.512000 38 75 0 0 0.080422 0 0 TNFSF4 7292 broad.mit.edu 37 1 173176222 173176222 + Nonsense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:173176222G>A ENST00000281834.3 - 1 230 c.94C>T c.(94-96)Cag>Tag p.Q32* NM_003326.3 NP_003317.1 P23510 TNFL4_HUMAN tumor necrosis factor (ligand) superfamily, member 4 32 acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation cell surface|extracellular space|integral to plasma membrane cytokine activity p.Q32*(1) breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1) 12 CCCAGTCCCTGAATTACAGAG 0.537000 15 35 0 0 0.020292 0 0 KANSL1 284058 broad.mit.edu 37 17 44109507 44109507 + Nonsense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr17:44109507G>C ENST00000262419.6 - 14 3466 c.2996C>G c.(2995-2997)tCa>tGa p.S999* KANSL1_ENST00000574590.1_Nonsense_Mutation_p.S999*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.S999*|KANSL1_ENST00000393476.3_Nonsense_Mutation_p.S293*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.S935*|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.S999* NM_001193466.1 NP_001180395 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 999 MLL1 complex protein binding p.S999*(1) GAGGGGTGCTGAGTGCAGTTC 0.602000 11 55 0 0 0.069234 0 0 GPR39 2863 broad.mit.edu 37 2 133174772 133174772 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr2:133174772C>T ENST00000329321.3 + 1 626 c.157C>T c.(157-159)Cgg>Tgg p.R53W NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 53 integral to plasma membrane G-protein coupled receptor activity|metal ion binding p.R53W(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CGCCACCATTCGGGTCACCCA 0.537000 19 32 0 0 0.049695 0 0 LENG8 114823 broad.mit.edu 37 19 54967251 54967251 + Silent SNP T T G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr19:54967251T>G ENST00000326764.5 + 9 1610 c.1131T>G c.(1129-1131)ggT>ggG p.G377G LENG8_ENST00000376514.2_Intron NM_052925.2 NP_443157.1 Q96PV6 LENG8_HUMAN leukocyte receptor cluster (LRC) member 8 340 Ser-rich. protein binding p.G377G(2) breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) GGGGCGGGGGTGCCCCGTCCC 0.687000 6 24 0 0 0.058154 0 0 SYNE1 23345 broad.mit.edu 37 6 152668238 152668238 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr6:152668238C>T ENST00000367255.5 - 73 12635 c.12034G>A c.(12034-12036)Ggc>Agc p.G4012S SYNE1_ENST00000265368.4_Missense_Mutation_p.G4012S|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.G3941S|SYNE1_ENST00000448038.1_Missense_Mutation_p.G3941S NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4012 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.G4012S(2)|p.G3941S(1) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCCTTTGTGCCCTGCAGATGA 0.493000 HNSCC(10;0.0054) 12 39 0 0 0.020292 0 0 OR10A6 390093 broad.mit.edu 37 11 7949563 7949563 + Missense_Mutation SNP A A G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr11:7949563A>G ENST00000309838.2 - 1 646 c.647T>C c.(646-648)tTg>tCg p.L216S NM_001004461.1 NP_001004461.1 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, member 6 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L216S(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AATGTAAGACAAGAGTATCAA 0.438000 18 43 0 0 0.043863 0 0 SNX22 79856 broad.mit.edu 37 15 64446590 64446590 + Silent SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr15:64446590G>C ENST00000325881.4 + 7 524 c.465G>C c.(463-465)tcG>tcC p.S155S NM_024798.2 NP_079074.2 Q96L94 SNX22_HUMAN sorting nexin 22 155 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding p.S155S(1) large_intestine(3)|lung(1)|urinary_tract(2) 6 CCACAGAGTCGCTGCCCAACG 0.602000 OREG0023180 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 111 0 0 0.049695 0 0 CCDC36 339834 broad.mit.edu 37 3 49249266 49249266 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr3:49249266C>T ENST00000438782.1 + 2 289 c.53C>T c.(52-54)tCt>tTt p.S18F CCDC36_ENST00000452691.2_Missense_Mutation_p.S18F|CCDC36_ENST00000366429.2_Missense_Mutation_p.S18F|CCDC36_ENST00000493870.1_Intron|CCDC36_ENST00000296449.5_Missense_Mutation_p.S18F Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 18 p.S8F(1) endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) CCTTCAGGCTCTGGGTAAGTT 0.388000 21 61 0 0 0.069288 0 0 C16orf59 80178 broad.mit.edu 37 16 2510687 2510687 + Silent SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr16:2510687C>T ENST00000569496.1 + 3 248 c.189C>T c.(187-189)ccC>ccT p.P63P C16orf59_ENST00000361837.4_Silent_p.P63P|C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000563531.1_Silent_p.P63P Q7L2K0 CP059_HUMAN chromosome 16 open reading frame 59 63 p.P63P(1) lung(1)|skin(1)|urinary_tract(1) 3 Ovarian(90;0.17) GAGAGGACCCCCTTCCAGGTA 0.637000 12 16 0 0 0.093190 0 0 KMT2A 4297 broad.mit.edu 37 11 118374590 118374590 + Missense_Mutation SNP G G C rs142807735 byFrequency TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr11:118374590G>C ENST00000534358.1 + 27 8006 c.7983G>C c.(7981-7983)aaG>aaC p.K2661N KMT2A_ENST00000354520.4_Missense_Mutation_p.K2620N|KMT2A_ENST00000389506.5_Missense_Mutation_p.K2658N NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A p.K2661N(1)|p.K2658N(1) AGCGAGGCAAGAGATCAGCTG 0.443000 9 31 0 0 0.069234 0 0 CCDC36 339834 broad.mit.edu 37 3 49249260 49249260 + Nonsense_Mutation SNP C C A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr3:49249260C>A ENST00000438782.1 + 2 283 c.47C>A c.(46-48)tCa>tAa p.S16* CCDC36_ENST00000452691.2_Nonsense_Mutation_p.S16*|CCDC36_ENST00000366429.2_Nonsense_Mutation_p.S16*|CCDC36_ENST00000493870.1_Intron|CCDC36_ENST00000296449.5_Nonsense_Mutation_p.S16* Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 16 p.S6*(1) endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) AGTATTCCTTCAGGCTCTGGG 0.383000 22 63 3.7963e-18 3.98085e-18 0.083992 1 0 ARHGEF26 26084 broad.mit.edu 37 3 153840100 153840100 + Missense_Mutation SNP C C G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr3:153840100C>G ENST00000356448.4 + 2 603 c.319C>G c.(319-321)Cga>Gga p.R107G ARHGEF26_ENST00000465093.1_Missense_Mutation_p.R107G|ARHGEF26_ENST00000465817.1_Missense_Mutation_p.R107G NM_001251962.1 NP_001238891.1 Q96DR7 ARHGQ_HUMAN Rho guanine nucleotide exchange factor (GEF) 26 107 Pro-rich. regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity p.R107G(3) endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 23 TGCCTCTCCTCGACTTCGACG 0.687000 5 17 0 0 0.021553 0 0 COL1A1 1277 broad.mit.edu 37 17 48275121 48275121 + Missense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr17:48275121G>C ENST00000225964.5 - 9 786 c.668C>G c.(667-669)cCa>cGa p.P223R NM_000088.3 NP_000079 P02452 CO1A1_HUMAN collagen, type I, alpha 1 223 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding p.P223R(1) COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) AGGGGGACCTGGGGGACCTCG 0.507000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 36 126 0 0 0.086207 0 0 COL5A2 1290 broad.mit.edu 37 2 189953486 189953486 + Missense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr2:189953486G>C ENST00000374866.3 - 8 854 c.580C>G c.(580-582)Caa>Gaa p.Q194E NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 194 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent p.Q194E(1) NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCAGCCATTTGAGCTGAAAAC 0.378000 25 75 0 0 0.108266 0 0 NCOR1 9611 broad.mit.edu 37 17 16022773 16022773 + Nonsense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr17:16022773G>A ENST00000268712.3 - 17 2136 c.1879C>T c.(1879-1881)Cga>Tga p.R627* NCOR1_ENST00000395851.1_Nonsense_Mutation_p.R627*|NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395848.1_Nonsense_Mutation_p.R518* NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 627 SANT 2. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding p.R627*(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TCTGTCCATCGAGAGGTCTCC 0.333000 31 38 0 0 0.086207 0 0 CSMD1 64478 broad.mit.edu 37 8 3326258 3326258 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr8:3326258G>A ENST00000520002.1 - 13 2095 c.1540C>T c.(1540-1542)Cct>Tct p.P514S CSMD1_ENST00000537824.1_Missense_Mutation_p.P513S|CSMD1_ENST00000539096.1_Missense_Mutation_p.P513S|CSMD1_ENST00000602723.1_Missense_Mutation_p.P514S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P514S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P513S|CSMD1_ENST00000602557.1_Missense_Mutation_p.P514S Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 514 CUB 3. integral to membrane p.P242S(1)|p.P513S(1) 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) TTAAACCCAGGTGAGCCAATG 0.478000 7 9 0 0 0.029380 0 0 NIPBL 25836 broad.mit.edu 37 5 36985880 36985880 + Silent SNP A A G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr5:36985880A>G ENST00000282516.8 + 10 3097 c.2598A>G c.(2596-2598)ctA>ctG p.L866L NIPBL_ENST00000448238.2_Silent_p.L866L|NIPBL_ENST00000504430.1_3'UTR NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 866 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding p.L866L(2) autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CTGATAAACTAGAACGAAAAC 0.413000 14 20 0 0 0.020292 0 0 CPPED1 55313 broad.mit.edu 37 16 12758794 12758794 + Silent SNP C C G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr16:12758794C>G ENST00000381774.4 - 4 1134 c.894G>C c.(892-894)ctG>ctC p.L298L CPPED1_ENST00000433677.2_Silent_p.L156L|CPPED1_ENST00000261660.4_3'UTR NM_018340.2 NP_060810.2 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain containing 1 298 hydrolase activity|metal ion binding p.L298L(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1) 18 CTTTCTCACTCAGCTCATCTA 0.478000 26 43 0 0 0.034045 0 0 ANKAR 150709 broad.mit.edu 37 2 190593544 190593544 + Missense_Mutation SNP A A G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr2:190593544A>G ENST00000520309.1 + 15 3278 c.3190A>G c.(3190-3192)Att>Gtt p.I1064V ANKAR_ENST00000313581.4_Missense_Mutation_p.I1064V|ANKAR_ENST00000431575.2_Missense_Mutation_p.I993V|ANKAR_ENST00000438402.2_Missense_Mutation_p.I1064V|ANKAR_ENST00000281412.6_Intron NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 1064 integral to membrane binding p.I993V(1)|p.I1064V(1) breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) ATCCATTTGTATTGGTTTGTA 0.393000 31 48 0 0 0.037714 0 0 MRPS17 51373 broad.mit.edu 37 7 56022649 56022649 + Silent SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr7:56022649G>A ENST00000285298.4 + 3 300 c.171G>A c.(169-171)caG>caA p.Q57Q MRPS17_ENST00000426595.1_Silent_p.Q152Q NM_015969.2 NP_057053.1 Q9Y2R5 RT17_HUMAN mitochondrial ribosomal protein S17 57 translation mitochondrial small ribosomal subunit rRNA binding|structural constituent of ribosome p.Q57Q(1) kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CCCTTCAGCAGTGCACAGTTG 0.443000 88 212 0 0 0.048971 0 0 LRP1B 53353 broad.mit.edu 37 2 141272335 141272335 + Missense_Mutation SNP G G T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr2:141272335G>T ENST00000389484.3 - 51 9127 c.8156C>A c.(8155-8157)tCt>tAt p.S2719Y NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2719 LDL-receptor class A 16. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.S2719Y(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCAAGAGCAAGAAGAATCTAG 0.363000 TSP Lung(27;0.18) 13 26 7.03913e-09 7.28019e-09 0.093190 1 0 RNF112 7732 broad.mit.edu 37 17 19319463 19319463 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr17:19319463G>A ENST00000461366.1 + 14 2086 c.1871G>A c.(1870-1872)cGa>cAa p.R624Q NM_007148.4 NP_009079.2 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 624 GTP binding|GTPase activity|zinc ion binding p.R625Q(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 GAAGGGGACCGAGAGCCCCTT 0.627000 10 25 0 0 0.069234 0 0 KNOP1 400506 broad.mit.edu 37 16 19726111 19726111 + Missense_Mutation SNP C C G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr16:19726111C>G ENST00000219837.7 - 2 325 c.247G>C c.(247-249)Gaa>Caa p.E83Q AC002550.5_ENST00000565916.1_RNA NM_001012991.2 NP_001013009.2 lysine-rich nucleolar protein 1 p.E83Q(1) GTCTCAGGTTCTACATGCTCC 0.522000 16 37 0 0 0.038395 0 0 CCDC87 55231 broad.mit.edu 37 11 66359214 66359214 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr11:66359214G>A ENST00000333861.3 - 1 1340 c.1273C>T c.(1273-1275)Cac>Tac p.H425Y NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 425 p.H425Y(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GGCTGTGGGTGAAGTGGAAAG 0.552000 18 39 0 0 0.038395 0 0 GNAZ 2781 broad.mit.edu 37 22 23465561 23465561 + Silent SNP C C T rs139659965 TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr22:23465561C>T ENST00000248996.4 + 3 1677 c.1011C>T c.(1009-1011)ttC>ttT p.F337F RTDR1_ENST00000216036.4_Intron NM_002073.2 NP_002064.1 P19086 GNAZ_HUMAN guanine nucleotide binding protein (G protein), alpha z polypeptide 337 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity p.F337F(1) endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) AGTTTGTCTTCGACGCGGTGA 0.562000 13 16 0 0 0.024245 0 0 ASAH2 56624 broad.mit.edu 37 10 51974561 51974561 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr10:51974561C>T ENST00000395526.4 - 8 1081 c.1082G>A c.(1081-1083)cGt>cAt p.R361H ASAH2_ENST00000447815.1_Missense_Mutation_p.R361H|ASAH2_ENST00000443575.1_Missense_Mutation_p.R203H|ASAH2_ENST00000329428.6_Missense_Mutation_p.R342H NM_019893.2 NP_063946.2 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity p.R342H(1)|p.R361H(1) large_intestine(1)|lung(9)|urinary_tract(1) 11 GTTGATGCAACGTGGTCCAAG 0.448000 19 28 0 0 0.069288 0 0 SZRD1 26099 broad.mit.edu 37 1 16721628 16721628 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:16721628G>A ENST00000401088.4 + 4 627 c.452G>A c.(451-453)cGc>cAc p.R151H SZRD1_ENST00000472461.1_3'UTR|SZRD1_ENST00000375590.3_Silent_p.A114A|SZRD1_ENST00000492354.1_Missense_Mutation_p.R131H|SZRD1_ENST00000471507.1_Missense_Mutation_p.R150H|SZRD1_ENST00000401089.3_Missense_Mutation_p.R132H NM_001114600.1|NM_001271869.1 NP_001108072.1|NP_001258798.1 SUZ RNA binding domain containing 1 p.R132H(1)|p.R151H(1) TTCAAACAGCGCAGATAAATG 0.582000 5 16 0 0 0.021553 0 0 CHD9 80205 broad.mit.edu 37 16 53272307 53272307 + Missense_Mutation SNP A A G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr16:53272307A>G ENST00000566029.1 + 12 2895 c.2686A>G c.(2686-2688)Att>Gtt p.I896V CHD9_ENST00000398510.3_Missense_Mutation_p.I896V|CHD9_ENST00000564845.1_Missense_Mutation_p.I896V|CHD9_ENST00000447540.1_Missense_Mutation_p.I896V Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 896 Helicase ATP-binding. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding p.I896V(2) NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) TATTCAATCAATTACATTCCT 0.358000 18 32 0 0 0.049695 0 0 CEP250 11190 broad.mit.edu 37 20 34051427 34051427 + Missense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr20:34051427G>C ENST00000397527.1 + 5 934 c.214G>C c.(214-216)Gag>Cag p.E72Q CEP250_ENST00000397524.1_Missense_Mutation_p.E72Q|CEP250_ENST00000342580.4_Missense_Mutation_p.E72Q NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 72 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding p.E72Q(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CTGGTGCCAAGAGCTGGAGAA 0.547000 OREG0025891 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 25 0 0 0.021553 0 0 ARHGEF3 50650 broad.mit.edu 37 3 56787589 56787589 + Missense_Mutation SNP G G C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr3:56787589G>C ENST00000413728.2 - 4 942 c.399C>G c.(397-399)atC>atG p.I133M ARHGEF3_ENST00000496106.1_Missense_Mutation_p.I133M|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.I127M|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.I127M|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.I98M|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.I159M NM_001128616.1 NP_001122088.1 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor (GEF) 3 127 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity p.I127M(2)|p.I159M(1) cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) AAAGCTCAAAGATCGCCTGCA 0.368000 27 83 0 0 0.041601 0 0 TET2 54790 broad.mit.edu 37 4 106156496 106156496 + Missense_Mutation SNP C C G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr4:106156496C>G ENST00000540549.1 + 3 2257 c.1397C>G c.(1396-1398)tCt>tGt p.S466C TET2_ENST00000413648.2_Missense_Mutation_p.S466C|TET2_ENST00000380013.4_Missense_Mutation_p.S466C|TET2_ENST00000305737.2_Missense_Mutation_p.S466C|TET2_ENST00000394764.1_Missense_Mutation_p.S466C|TET2_ENST00000545826.1_Missense_Mutation_p.S466C|TET2_ENST00000513237.1_Missense_Mutation_p.S487C Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 466 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.S466C(2) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) CCTAATCCATCTACACATGTA 0.458000 """Mis N, F""" MDS 13 35 0 0 0.093190 0 0 FRG1B 284802 broad.mit.edu 37 20 29625891 29625891 + Silent SNP C C G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr20:29625891C>G ENST00000278882.3 + 5 515 c.135C>G c.(133-135)ggC>ggG p.G45G FRG1B_ENST00000439954.2_Silent_p.G50G|FRG1B_ENST00000358464.4_Silent_p.G45G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGAAATCTGGCTATGGAAAAT 0.343000 3 79 0 0 0.021553 0 0 MYCBP2 23077 broad.mit.edu 37 13 77743819 77743819 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr13:77743819G>A ENST00000407578.2 - 39 6091 c.5825C>T c.(5824-5826)tCc>tTc p.S1942F MYCBP2_ENST00000357337.6_Missense_Mutation_p.S1904F|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S1904F NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 1904 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding p.S1904F(2)|p.S1942F(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AAACAGACTGGAAGAACTCAG 0.383000 18 66 0 0 0.043863 0 0 TRPM4 54795 broad.mit.edu 37 19 49713574 49713574 + Silent SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr19:49713574C>T ENST00000252826.5 + 21 3366 c.3240C>T c.(3238-3240)atC>atT p.I1080I TRPM4_ENST00000427978.2_Silent_p.I935I|TRPM4_ENST00000355712.5_Silent_p.I726I NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 1080 Calmodulin-binding. dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding p.I1080I(1) breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CGCCCTTTATCGTCATCTCCC 0.637000 20 30 0 0 0.062417 0 0 C4BPA 722 broad.mit.edu 37 1 207300089 207300089 + Missense_Mutation SNP T T A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:207300089T>A ENST00000367070.3 + 7 932 c.738T>A c.(736-738)caT>caA p.H246Q NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 246 Sushi 4. complement activation, classical pathway|innate immune response extracellular region protein binding p.H246Q(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 ATGTTTCACATGGGGAAATGG 0.378000 30 80 0 0 0.069456 0 0 LPAR2 9170 broad.mit.edu 37 19 19737749 19737749 + Silent SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr19:19737749G>A ENST00000542587.1 - 5 1247 c.345C>T c.(343-345)ctC>ctT p.L115L LPAR2_ENST00000586703.1_Silent_p.L115L|LPAR2_ENST00000407877.3_Silent_p.L115L Q9HBW0 LPAR2_HUMAN lysophosphatidic acid receptor 2 115 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration cell surface|integral to plasma membrane LIM domain binding|lipid binding p.L115L(1) breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 10 CCGACGCAGTGAGGCTTGTGT 0.672000 6 6 0 0 0.021553 0 0 RTN1 6252 broad.mit.edu 37 14 60212834 60212834 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr14:60212834C>T ENST00000267484.5 - 2 942 c.607G>A c.(607-609)Gag>Aag p.E203K NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 203 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity p.E203K(1) central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) TTCACCTCCTCGGGTCTGGTT 0.453000 70 138 0 0 0.048971 0 0 ELAVL1 1994 broad.mit.edu 37 19 8046039 8046039 + Silent SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr19:8046039G>A ENST00000407627.2 - 3 333 c.204C>T c.(202-204)taC>taT p.Y68Y ELAVL1_ENST00000351593.5_Silent_p.Y95Y|ELAVL1_ENST00000596459.1_Silent_p.Y68Y|ELAVL1_ENST00000593807.1_Silent_p.Y68Y NM_001419.2 NP_001410.2 Q15717 ELAV1_HUMAN ELAV like RNA binding protein 1 68 RRM 1. 3'-UTR-mediated mRNA stabilization|multicellular organismal development cytoplasm|nucleoplasm identical protein binding|mRNA binding|nucleotide binding p.Y68Y(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TCGCGGTCACGTAGTTCACAA 0.532000 14 46 0 0 0.020292 0 0 LPA 4018 broad.mit.edu 37 6 161007642 161007642 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr6:161007642C>T ENST00000447678.1 - 26 4088 c.3968G>A c.(3967-3969)tGc>tAc p.C1323Y LPA_ENST00000316300.5_Missense_Mutation_p.C1323Y NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3831 Kringle 12. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity p.C1323Y(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TGGATTCCTGCAGTAGTTCCT 0.483000 19 47 0 0 0.038395 0 0 SLC4A8 9498 broad.mit.edu 37 12 51868256 51868256 + Missense_Mutation SNP C C G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr12:51868256C>G ENST00000535225.2 + 15 2159 c.1876C>G c.(1876-1878)Cct>Gct p.P626A SLC4A8_ENST00000394856.1_Intron|SLC4A8_ENST00000453097.2_Intron|SLC4A8_ENST00000358657.3_Intron|SLC4A8_ENST00000514353.3_Intron NM_001258402.1|NM_001267615.1 NP_001245331.1|NP_001254544.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 0 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) TGCCAGATGTCCTAGCATTGT 0.488000 2 8 0 0 0.004672 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144923818 144923818 + Missense_Mutation SNP T T C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:144923818T>C ENST00000529945.1 - 2 1568 c.1129A>G c.(1129-1131)Atg>Gtg p.M377V PDE4DIP_ENST00000313431.9_Missense_Mutation_p.M377V|PDE4DIP_ENST00000479408.2_Start_Codon_SNP_p.M1V|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.M214V|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.M351V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.M351V|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.M214V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.M214V|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.M214V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.M280V Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 214 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.M214V(2)|p.M377V(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCTTCAGTCATGGGCTAGGAA 0.403000 T PDGFRB MPD 19 103 0 0 0.043863 0 0 TPR 7175 broad.mit.edu 37 1 186324850 186324850 + Missense_Mutation SNP T T C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:186324850T>C ENST00000367478.4 - 16 2235 c.1939A>G c.(1939-1941)Aca>Gca p.T647A TPR_ENST00000474852.1_5'UTR NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity p.T647A(1)|p.T648A(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) GTCTGTGATGTACTTGGACGT 0.398000 T NTRK1 papillary thyroid 31 53 0 0 0.041601 0 0 PPIE 10450 broad.mit.edu 37 1 40214727 40214727 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:40214727G>A ENST00000324379.5 + 8 680 c.661G>A c.(661-663)Gat>Aat p.D221N PPIE_ENST00000372830.1_Missense_Mutation_p.D221N|PPIE_ENST00000470213.1_Missense_Mutation_p.M179I|PPIE_ENST00000356511.2_Missense_Mutation_p.D221N NM_006112.3 NP_006103.1 Q9UNP9 PPIE_HUMAN peptidylprolyl isomerase E (cyclophilin E) 221 PPIase cyclophilin-type. protein folding|regulation of transcription, DNA-dependent catalytic step 2 spliceosome cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding p.D221N(2) kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 9 all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GAAGTTCGATGATGAAAACTT 0.557000 31 32 0 0 0.050027 0 0 IL34 146433 broad.mit.edu 37 16 70693984 70693984 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr16:70693984C>T ENST00000429149.2 + 7 1178 c.623C>T c.(622-624)gCg>gTg p.A208V IL34_ENST00000288098.2_Missense_Mutation_p.A208V|IL34_ENST00000566361.1_Missense_Mutation_p.A183V NM_001172771.1|NM_152456.2 NP_001166242.1|NP_689669.2 Q6ZMJ4 IL34_HUMAN interleukin 34 208 positive regulation of cell proliferation|positive regulation of protein phosphorylation extracellular space cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding p.A208V(1) breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2) 17 TTGCAGTATGCGGCCACCCAG 0.647000 4 123 0 0 0.009096 0 0 KMT2A 4297 broad.mit.edu 37 11 118375131 118375131 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr11:118375131G>A ENST00000534358.1 + 27 8547 c.8524G>A c.(8524-8526)Gat>Aat p.D2842N KMT2A_ENST00000354520.4_Missense_Mutation_p.D2801N|KMT2A_ENST00000389506.5_Missense_Mutation_p.D2839N NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A p.D2842N(1)|p.D2839N(1) TAACAACAGTGATGACTGTGG 0.448000 37 93 0 0 0.069456 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 3 64 0 0 0.004672 0 0 KMT2A 4297 broad.mit.edu 37 11 118374132 118374132 + Missense_Mutation SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr11:118374132G>A ENST00000534358.1 + 27 7548 c.7525G>A c.(7525-7527)Gaa>Aaa p.E2509K KMT2A_ENST00000354520.4_Missense_Mutation_p.E2468K|KMT2A_ENST00000389506.5_Missense_Mutation_p.E2506K NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A p.E2509K(1)|p.E2506K(1)|p.E2509Q(1)|p.E2506Q(1) CATGCAAGTAGAAGGATCTGC 0.448000 13 31 0 0 0.105934 0 0 SYNPO 11346 broad.mit.edu 37 5 150028061 150028061 + Missense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr5:150028061C>T ENST00000394243.1 + 3 1330 c.956C>T c.(955-957)tCg>tTg p.S319L SYNPO_ENST00000519664.1_Missense_Mutation_p.S75L|SYNPO_ENST00000522122.1_Missense_Mutation_p.S319L|SYNPO_ENST00000307662.4_Missense_Mutation_p.S75L|SYNPO_ENST00000518872.1_Intron NM_001166208.1 NP_001159680.1 Q8N3V7 SYNPO_HUMAN synaptopodin 319 positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding p.S75L(1)|p.S319L(1) NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2) 18 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AACCTTGCCTCGCCCAGTGCC 0.607000 44 93 0 0 0.111260 0 0 PPP1R18 170954 broad.mit.edu 37 6 30653297 30653297 + Missense_Mutation SNP G G T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr6:30653297G>T ENST00000274853.3 - 1 2375 c.499C>A c.(499-501)Ctg>Atg p.L167M PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Missense_Mutation_p.L167M NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 167 cytoplasm|cytoskeleton actin binding p.L167M(1) CGAGCCTCCAGAGGCCTCAGG 0.602000 65 127 1.40369e-38 1.48221e-38 0.048971 1 0 ARID1A 8289 broad.mit.edu 37 1 27099094 27099097 + Frame_Shift_Del DEL CAGT CAGT - TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:27099094_27099097delCAGT ENST00000324856.7 + 13 3881_3884 c.3510_3513delCAGT c.(3508-3513)cacagtfs p.HS1170fs ARID1A_ENST00000457599.2_Frame_Shift_Del_p.HS1170fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.HS787fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1170 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCACACCACACAGTCAGATCCCCC 0.564 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 10 36 --- --- --- --- ELF3 1999 broad.mit.edu 37 1 201981870 201981871 + Frame_Shift_Ins INS - - T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:201981870_201981871insT ENST00000359651.3 + 4 3773_3774 c.581_582insT c.(580-585)tctgacfs p.D195fs ELF3_ENST00000367284.5_Frame_Shift_Ins_p.D195fs|ELF3_ENST00000367283.3_Frame_Shift_Ins_p.D195fs|RP11-510N19.5_ENST00000504773.1_RNA P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 195 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 CCTGGCAGCTCTGACGTCTCCA 0.663 16 31 --- --- --- --- TSNAX-DISC1 100303453 broad.mit.edu 37 1 231696991 231696995 + Frame_Shift_Del DEL AAAAT AAAAT - TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr1:231696991_231696995delAAAAT ENST00000602962.1 + 5 643_647 c.485_489delAAAAT c.(484-489)gaaaatfs p.EN162fs TSNAX_ENST00000366639.4_Frame_Shift_Del_p.EN162fs AATGGGAAAGAAAATAAAACTGTGA 0.273 10 33 --- --- --- --- IFIH1 64135 broad.mit.edu 37 2 163174805 163174806 + Frame_Shift_Ins INS - - CC TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr2:163174805_163174806insCC ENST00000263642.2 - 1 407_408 c.12_13insGG c.(10-15)gggtatfs p.Y5fs IFIH1_ENST00000421365.2_Frame_Shift_Ins_p.Y5fs NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 5 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 TCTGTGGAATACCCATTCGACA 0.530 22 62 --- --- --- --- HIST1H4L 8368 broad.mit.edu 37 6 27841112 27841114 + In_Frame_Del DEL AAG AAG - TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr6:27841112_27841114delAAG ENST00000355981.2 - 1 175_177 c.175_177delCTT c.(175-177)cttdel p.L59del NM_003546.2 NP_003537.1 P62805 H4_HUMAN histone cluster 1, H4l 59 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 13 AAAACACTTTAAGAACTCCGCGT 0.552 12 41 --- --- --- --- GTF2IRD2P1 401375 broad.mit.edu 37 7 72662348 72662349 + RNA INS - - A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr7:72662348_72662349insA ENST00000425256.1 - 0 1007 actctgtctccaaaaaaaaaaa 0.480 2 4 --- --- --- --- CAMSAP1 157922 broad.mit.edu 37 9 138715799 138715800 + Frame_Shift_Ins INS - - T rs148250832 byFrequency TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr9:138715799_138715800insT ENST00000389532.4 - 10 1460_1461 c.1396_1397insA c.(1396-1398)accfs p.T466fs CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.T188fs|CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.T477fs|CAMSAP1_ENST00000483991.1_5'UTR NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 466 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GACTCACCTGGTTTTTTTTTCT 0.460 2 4 --- --- --- --- RP11-179A10.1 0 broad.mit.edu 37 11 11158592 11158592 + RNA DEL G G - rs11303970 TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr11:11158592delG ENST00000525758.1 + 0 108 aaaaaaaaaagaaaaaaaaat 0.393 5 7 --- --- --- --- GPALPP1 55425 broad.mit.edu 37 13 45580365 45580367 + In_Frame_Del DEL GAT GAT - rs138421508 TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr13:45580365_45580367delGAT ENST00000361121.2 + 3 285_287 c.250_252delGAT c.(250-252)gatdel p.D88del RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000379151.4_In_Frame_Del_p.D88del|GPALPP1_ENST00000357537.3_De_novo_Start_InFrame GPALPP motifs containing 1 88 Ggatgatgacgatgatgatgatg 0.335 7 329 --- --- --- --- DHRS7B 25979 broad.mit.edu 37 17 21094331 21094333 + In_Frame_Del DEL GAA GAA - TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr17:21094331_21094333delGAA ENST00000395511.3 + 7 1163_1165 c.843_845delGAA c.(841-846)gggaag>ggg p.K285del DHRS7B_ENST00000581463.1_Intron|DHRS7B_ENST00000579303.1_In_Frame_Del_p.K270del NM_015510.4 NP_056325.2 Q6IAN0 DRS7B_HUMAN dehydrogenase/reductase (SDR family) member 7B 285 integral to membrane|peroxisomal membrane binding|oxidoreductase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2) 7 CTGCTGTGGGGAAGAAGAAGAAA 0.507 11 1646 --- --- --- --- CASKIN2 57513 broad.mit.edu 37 17 73498817 73498819 + In_Frame_Del DEL AGG AGG - TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr17:73498817_73498819delAGG ENST00000321617.3 - 18 2922_2924 c.2336_2338delCCT c.(2335-2340)tcctac>tac p.S779del CASKIN2_ENST00000433559.2_In_Frame_Del_p.S697del NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 779 Pro-rich. cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CCGGCCAAGTAGGAGAAGGCCCA 0.695 5 9 --- --- --- --- ANKRD20A11P 391267 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c619cbc-9e91-4716-9711-5236e55d8f46 21d0907a-ac47-4a72-8f6c-74d25949fe11 g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 7 90 --- --- --- ---