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 POLRMT 5442 broad.mit.edu 37 19 620015 620015 + Silent SNP G G C TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 4f280fa7-808c-445d-b173-cb9c2d2f3a96 g.chr19:620015G>C ENST00000588649.2 - 12 2913 c.2829C>G c.(2827-2829)tcC>tcG p.S943S NM_005035.3 NP_005026.3 O00411 RPOM_HUMAN polymerase (RNA) mitochondrial (DNA directed) 943 Mediates interaction with TEFM. transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGGTTGACGGAGGCGGCGC 0.697000 3 10 0 0 1 0 0 FUT3 2525 broad.mit.edu 37 19 5844400 5844400 + Missense_Mutation SNP T T C rs417341 byFrequency TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 4f280fa7-808c-445d-b173-cb9c2d2f3a96 g.chr19:5844400T>C ENST00000303225.6 - 3 1085 c.451A>G c.(451-453)Aga>Gga p.R151G FUT3_ENST00000589918.1_Missense_Mutation_p.R151G|FUT3_ENST00000589620.1_Missense_Mutation_p.R151G|FUT3_ENST00000458379.2_Missense_Mutation_p.R151G NM_000149.3 NP_000140.1 P21217 FUT3_HUMAN fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) 151 protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 TTGAAGTATCTGTCCAGGGCT 0.642000 14 56 0 0 1 0 0 CCDC105 126402 broad.mit.edu 37 19 15132292 15132292 + Silent SNP C C T TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 4f280fa7-808c-445d-b173-cb9c2d2f3a96 g.chr19:15132292C>T ENST00000292574.3 + 4 1084 c.1002C>T c.(1000-1002)gcC>gcT p.A334A NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 334 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 GTGTGTGTGCCTCGCTGGCGC 0.622000 3 30 0 0 1 0 0 GRAMD2 196996 broad.mit.edu 37 15 72454662 72454662 + Missense_Mutation SNP T T C TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 4f280fa7-808c-445d-b173-cb9c2d2f3a96 g.chr15:72454662T>C ENST00000309731.7 - 11 1026 c.1013A>G c.(1012-1014)gAg>gGg p.E338G NM_001012642.2 NP_001012660.1 Q8IUY3 GRAM2_HUMAN GRAM domain containing 2 338 integral to membrane cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 13 TAACTGCTGCTCTAGCCGAGA 0.488000 11 33 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133919035 133919035 + Missense_Mutation SNP A A C TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 4f280fa7-808c-445d-b173-cb9c2d2f3a96 g.chr8:133919035A>C ENST00000220616.4 + 17 3777 c.3737A>C c.(3736-3738)cAa>cCa p.Q1246P TG_ENST00000377869.1_Missense_Mutation_p.Q1246P NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1246 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CAGCAGTGCCAATTGCTGTGC 0.632000 10 28 0 0 1 0 0 SPECC1 92521 broad.mit.edu 37 17 20013740 20013740 + Splice_Site SNP C C A TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 4f280fa7-808c-445d-b173-cb9c2d2f3a96 g.chr17:20013740C>A ENST00000395529.3 + 3 200 c.147_splice c.e3-1 p.L50_splice SPECC1_ENST00000261503.5_Splice_Site_p.L50_splice|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395527.4_Splice_Site_p.L50_splice NM_152904.4 NP_690868.3 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 50 nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) ACTCTCTCAGCTCAAGAGGGC 0.572000 17 51 1.33834e-09 1.44129e-09 1 1 0 FRG1B 0 broad.mit.edu 37 20 29625955 29625955 + Nonsense_Mutation SNP A A T TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 4f280fa7-808c-445d-b173-cb9c2d2f3a96 g.chr20:29625955A>T ENST00000278882.3 + 5 579 c.199A>T c.(199-201)Aga>Tga p.R67* FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72* endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATTGGACCAAGAGAACAATG 0.338000 3 25 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 4f280fa7-808c-445d-b173-cb9c2d2f3a96 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 31 46 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71682911 71682911 + Missense_Mutation SNP T T C rs149705576 TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 4f280fa7-808c-445d-b173-cb9c2d2f3a96 g.chr16:71682911T>C ENST00000393524.2 - 17 4386 c.3653A>G c.(3652-3654)cAt>cGt p.H1218R PHLPP2_ENST00000568954.1_Missense_Mutation_p.H1285R|PHLPP2_ENST00000567016.1_Missense_Mutation_p.H1320R|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Missense_Mutation_p.H1285R|PHLPP2_ENST00000540628.1_Intron Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 1285 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 TTCCAGGTCATGAGGCACAAC 0.552000 5 51 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 4f280fa7-808c-445d-b173-cb9c2d2f3a96 g.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S332S(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ATTTGCTAAACGATTTCCCAC 0.358000 2 1 0 0 1 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44801338 44801338 + Missense_Mutation SNP G G A TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 4f280fa7-808c-445d-b173-cb9c2d2f3a96 g.chr7:44801338G>A ENST00000309315.4 + 11 1553 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R477Q|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R445Q|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R419Q|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R451Q NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 477 Interaction with AR. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CACGAGGACCGGCAGATGAAC 0.612000 16 17 0 0 1 0 0 PCDHA6 0 broad.mit.edu 37 5 140209392 140209392 + Silent SNP T T C rs146736705 byFrequency TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 4f280fa7-808c-445d-b173-cb9c2d2f3a96 g.chr5:140209392T>C ENST00000529310.1 + 1 1830 c.1716T>C c.(1714-1716)ggT>ggC p.G572G PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 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) GGGTGGGTGGTACTGGTGGTG 0.687000 6 100 0 0 1 0 0 SLC6A13 6540 broad.mit.edu 37 12 368928 368928 + Silent SNP T T C rs148217969 by1000genomes TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 4f280fa7-808c-445d-b173-cb9c2d2f3a96 g.chr12:368928T>C ENST00000436453.1 - 2 343 c.291A>G c.(289-291)ccA>ccG p.P97P SLC6A13_ENST00000445055.2_Intron|SLC6A13_ENST00000343164.4_Intron NM_001243392.1 NP_001230321.1 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 0 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) tatacatctatgGGACTCCCC 0.522000 3 16 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23065236 23065236 + Missense_Mutation SNP G G C TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 4f280fa7-808c-445d-b173-cb9c2d2f3a96 g.chr20:23065236G>C ENST00000246006.4 - 1 1741 c.1594C>G c.(1594-1596)Ctc>Gtc p.L532V NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 532 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) AGCATCTTGAGTGGGGCAGAT 0.662000 21 59 0 0 1 0 0 EEF1A1 1915 broad.mit.edu 37 6 74228523 74228523 + Missense_Mutation SNP T T C TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 4f280fa7-808c-445d-b173-cb9c2d2f3a96 g.chr6:74228523T>C ENST00000316292.9 - 4 1661 c.670A>G c.(670-672)Agt>Ggt p.S224G EEF1A1_ENST00000309268.6_Missense_Mutation_p.S224G|EEF1A1_ENST00000331523.2_Missense_Mutation_p.S224G|EEF1A1_ENST00000491404.1_Intron NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 224 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 GTGGTTCCACTGGCATTGCCA 0.517000 OREG0003891|OREG0003895 type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 17 24 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23065236 23065236 + Missense_Mutation SNP G G C TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr20:23065236G>C ENST00000246006.4 - 1 1741 c.1594C>G c.(1594-1596)Ctc>Gtc p.L532V NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 532 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) AGCATCTTGAGTGGGGCAGAT 0.662000 21 59 0 0 1 0 0 FUT3 2525 broad.mit.edu 37 19 5844400 5844400 + Missense_Mutation SNP T T C rs417341 byFrequency TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr19:5844400T>C ENST00000303225.6 - 3 1085 c.451A>G c.(451-453)Aga>Gga p.R151G FUT3_ENST00000458379.2_Missense_Mutation_p.R151G|FUT3_ENST00000589620.1_Missense_Mutation_p.R151G|FUT3_ENST00000589918.1_Missense_Mutation_p.R151G NM_000149.3 NP_000140.1 P21217 FUT3_HUMAN fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) 151 protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 TTGAAGTATCTGTCCAGGGCT 0.642000 14 56 0 0 1 0 0 CCDC105 126402 broad.mit.edu 37 19 15132292 15132292 + Silent SNP C C T TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr19:15132292C>T ENST00000292574.3 + 4 1084 c.1002C>T c.(1000-1002)gcC>gcT p.A334A NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 334 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 GTGTGTGTGCCTCGCTGGCGC 0.622000 3 30 0 0 1 0 0 GRAMD2 196996 broad.mit.edu 37 15 72454662 72454662 + Missense_Mutation SNP T T C TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr15:72454662T>C ENST00000309731.7 - 11 1026 c.1013A>G c.(1012-1014)gAg>gGg p.E338G NM_001012642.2 NP_001012660.1 Q8IUY3 GRAM2_HUMAN GRAM domain containing 2 338 integral to membrane cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 13 TAACTGCTGCTCTAGCCGAGA 0.488000 11 33 0 0 1 0 0 FAM86FP 0 broad.mit.edu 37 12 8386955 8386955 + RNA SNP T T C rs75997195 TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr12:8386955T>C ENST00000427893.2 - 0 811 CTTGTGCTCCTGGCAGGCAGC 0.612000 5 44 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133919035 133919035 + Missense_Mutation SNP A A C TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr8:133919035A>C ENST00000220616.4 + 17 3777 c.3737A>C c.(3736-3738)cAa>cCa p.Q1246P TG_ENST00000377869.1_Missense_Mutation_p.Q1246P NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1246 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CAGCAGTGCCAATTGCTGTGC 0.632000 10 28 0 0 1 0 0 SPECC1 92521 broad.mit.edu 37 17 20013740 20013740 + Splice_Site SNP C C A TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr17:20013740C>A ENST00000395529.3 + 3 200 c.147_splice c.e3-1 p.L50_splice SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000261503.5_Splice_Site_p.L50_splice|SPECC1_ENST00000395527.4_Splice_Site_p.L50_splice NM_152904.4 NP_690868.3 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 50 nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) ACTCTCTCAGCTCAAGAGGGC 0.572000 17 51 1.33834e-09 1.39187e-09 1 1 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 31 46 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71682911 71682911 + Missense_Mutation SNP T T C rs149705576 TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr16:71682911T>C ENST00000393524.2 - 17 4386 c.3653A>G c.(3652-3654)cAt>cGt p.H1218R PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Missense_Mutation_p.H1285R|PHLPP2_ENST00000568954.1_Missense_Mutation_p.H1285R|PHLPP2_ENST00000567016.1_Missense_Mutation_p.H1320R Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 1285 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 TTCCAGGTCATGAGGCACAAC 0.552000 5 51 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18769203 18769203 + RNA SNP G G A rs111245818 TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr22:18769203G>A ENST00000412448.1 - 0 1083 AGCCAGCCGCGGCAGGGTCAG 0.637000 5 40 0 0 1 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44801338 44801338 + Missense_Mutation SNP G G A TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr7:44801338G>A ENST00000309315.4 + 11 1553 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R419Q|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R477Q|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R445Q|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R451Q NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 477 Interaction with AR. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CACGAGGACCGGCAGATGAAC 0.612000 16 17 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 4 10 0 0 1 0 0 PCDHA6 0 broad.mit.edu 37 5 140209392 140209392 + Silent SNP T T C rs146736705 byFrequency TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr5:140209392T>C ENST00000529310.1 + 1 1830 c.1716T>C c.(1714-1716)ggT>ggC p.G572G PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 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) GGGTGGGTGGTACTGGTGGTG 0.687000 6 100 0 0 1 0 0 SLC6A13 6540 broad.mit.edu 37 12 368928 368928 + Silent SNP T T C rs148217969 by1000genomes TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr12:368928T>C ENST00000436453.1 - 2 343 c.291A>G c.(289-291)ccA>ccG p.P97P SLC6A13_ENST00000343164.4_Intron|SLC6A13_ENST00000445055.2_Intron NM_001243392.1 NP_001230321.1 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 0 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) tatacatctatgGGACTCCCC 0.522000 3 16 0 0 1 0 0 EEF1A1 1915 broad.mit.edu 37 6 74228523 74228523 + Missense_Mutation SNP T T C TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr6:74228523T>C ENST00000316292.9 - 4 1661 c.670A>G c.(670-672)Agt>Ggt p.S224G EEF1A1_ENST00000331523.2_Missense_Mutation_p.S224G|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Missense_Mutation_p.S224G NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 224 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 GTGGTTCCACTGGCATTGCCA 0.517000 OREG0003891|OREG0003895 type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 17 24 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81596976 81596977 + Frame_Shift_Del DEL AC AC - TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 4f280fa7-808c-445d-b173-cb9c2d2f3a96 g.chr7:81596976_81596977delAC ENST00000356860.3 - 30 2736_2737 c.2398_2399delGT c.(2398-2400)tfs p.V800fs CACNA2D1_ENST00000535308.1_Frame_Shift_Del_p.V12fs|CACNA2D1_ENST00000356253.5_Frame_Shift_Del_p.V812fs NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 812 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TTTAATTCCAACAACTGAAAAA 0.262 2 4 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 4f280fa7-808c-445d-b173-cb9c2d2f3a96 g.chr11:12316384_12316389delCTCCTA ENST00000256186.2 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)cca>c p.PPT469del NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 469 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.573 4 7 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + RNA INS - - C rs36063533 TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 4f280fa7-808c-445d-b173-cb9c2d2f3a96 g.chr12:7080212_7080213insC ENST00000546220.1 + 0 157_158 U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 9 2 --- --- --- --- RP11-439I14.2 0 broad.mit.edu 37 16 64770704 64770705 + RNA INS - - CCAGTGATGGTCACCT rs140029302 by1000genomes TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 4f280fa7-808c-445d-b173-cb9c2d2f3a96 g.chr16:64770704_64770705insCCAGTGATGGTCACCT ENST00000564293.1 + 0 453_454 TGTCACCACTGCCACCTTGTTC 0.371 3 3 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085837 11085838 + RNA INS - - TAC rs151194290 by1000genomes TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 4f280fa7-808c-445d-b173-cb9c2d2f3a96 g.chr21:11085837_11085838insTAC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) accatcaccatcaccaccacca 0.584 2 4 --- --- --- --- FAM86JP 0 broad.mit.edu 37 3 125642556 125642557 + RNA INS - - C rs112362688 TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr3:125642556_125642557insC ENST00000485843.1 + 0 332 NR_024251.1 ATCATCTCCCAGGCATCACAGG 0.579 5 11 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 79950742 79950750 + In_Frame_Del DEL CCCCCAGCT CCCCCAGCT - rs3045983 TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr5:79950742_79950750delCCCCCAGCT ENST00000265081.6 + 1 276_284 c.196_204delCCCCCAGCT c.(196-204)del p.PPA66del DHFR_ENST00000439211.2_5'UTR NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 66 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) gCCCCCAGCGCCCCCAGCTCCCGCCTTCC 0.732 Mismatch excision repair (MMR) 4 5 --- --- --- --- CACNA2D1 781 broad.mit.edu 37 7 81596976 81596977 + Frame_Shift_Del DEL AC AC - TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr7:81596976_81596977delAC ENST00000356860.3 - 30 2736_2737 c.2398_2399delGT c.(2398-2400)tfs p.V800fs CACNA2D1_ENST00000535308.1_Frame_Shift_Del_p.V12fs|CACNA2D1_ENST00000356253.5_Frame_Shift_Del_p.V812fs NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 812 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TTTAATTCCAACAACTGAAAAA 0.262 2 4 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149499116 149499117 + RNA DEL AT AT - rs61047652 TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr7:149499116_149499117delAT ENST00000378016.2 + 0 7495 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCCGGCCCCCATGCCCCTGCAG 0.703 4 8 --- --- --- --- RP11-439I14.2 0 broad.mit.edu 37 16 64770704 64770705 + RNA INS - - CCAGTGATGGTCACCT rs140029302 by1000genomes TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr16:64770704_64770705insCCAGTGATGGTCACCT ENST00000564293.1 + 0 453_454 TGTCACCACTGCCACCTTGTTC 0.371 3 3 --- --- --- --- KRT10 3858 broad.mit.edu 37 17 38978766 38978768 + In_Frame_Del DEL TCC TCC - TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr17:38978766_38978768delTCC ENST00000269576.5 - 1 79_81 c.70_72delGGA c.(70-72)del p.G24del TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 24 Gly-rich.|Head. Missing (in Ref. 1; AAA60544). epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) ctcctccacatcctcctcctcct 0.547 8 28 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085837 11085838 + RNA INS - - TAC rs151194290 by1000genomes TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr21:11085837_11085838insTAC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) accatcaccatcaccaccacca 0.584 2 4 --- --- --- ---