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 GDF3 9573 broad.mit.edu 37 12 7843136 7843136 + Silent SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr12:7843136G>A ENST00000329913.3 - 2 480 c.433C>T c.(433-435)Ctg>Ttg p.L145L NM_020634.1 NP_065685.1 Q9NR23 GDF3_HUMAN growth differentiation factor 3 145 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 AACAGAGCCAGTTCCAGCTCT 0.547000 3 46 0 0 1 0 0 TCTN2 79867 broad.mit.edu 37 12 124171517 124171517 + Silent SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr12:124171517C>T ENST00000303372.5 + 6 827 c.699C>T c.(697-699)ccC>ccT p.P233P TCTN2_ENST00000426174.2_Silent_p.P232P NM_001143850.2|NM_024809.4 NP_001137322.1|NP_079085.2 Q96GX1 TECT2_HUMAN tectonic family member 2 233 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) ATTGGTTTCCCTTTCTGTGTG 0.562000 5 189 0 0 1 0 0 AMELX 265 broad.mit.edu 37 X 11312924 11312924 + Missense_Mutation SNP T T A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chrX:11312924T>A ENST00000380712.3 + 2 84 c.16T>A c.(16-18)Tta>Ata p.L6I ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.L6I|ARHGAP6_ENST00000380732.3_Intron|AMELX_ENST00000380714.3_Missense_Mutation_p.L6I NM_182680.1 NP_872621.1 Q99217 AMELX_HUMAN amelogenin, X-linked 6 ILFA -> T (in AIH1). cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction proteinaceous extracellular matrix cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 15 GACCTGGATTTTATTTGCCTG 0.403000 4 45 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108383808 108383808 + Missense_Mutation SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr11:108383808G>A ENST00000265843.4 - 6 2536 c.2426C>T c.(2425-2427)tCc>tTc p.S809F EXPH5_ENST00000443411.1_Missense_Mutation_p.S621F|EXPH5_ENST00000525344.1_Missense_Mutation_p.S802F|EXPH5_ENST00000428840.1_Missense_Mutation_p.S733F NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 809 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GAAAGGAAGGGAAGCTGTTGA 0.378000 4 94 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135269644 135269644 + Silent SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr7:135269644C>T ENST00000285968.6 + 8 1133 c.1107C>T c.(1105-1107)ttC>ttT p.F369F NUP205_ENST00000440390.2_Silent_p.F163F NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 369 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 ACAACGTTTTCCTGTTCCTCA 0.393000 3 30 0 0 1 0 0 C1orf105 92346 broad.mit.edu 37 1 172425560 172425560 + Silent SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr1:172425560G>A ENST00000367727.4 + 4 402 c.204G>A c.(202-204)agG>agA p.R68R C1orf105_ENST00000367725.4_Silent_p.R58R|C1orf105_ENST00000367726.1_Intron NM_139240.3 NP_640333.3 O95561 CA105_HUMAN chromosome 1 open reading frame 105 68 large_intestine(1)|lung(12)|prostate(1)|skin(1) 15 CTCAGGCCAGGAGGAACCAGT 0.522000 4 85 0 0 1 0 0 CAMK4 814 broad.mit.edu 37 5 110679733 110679733 + Missense_Mutation SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:110679733C>T ENST00000282356.4 + 2 571 c.173C>T c.(172-174)tCc>tTc p.S58F CAMK4_ENST00000512453.1_Missense_Mutation_p.S58F NM_001744.4 NP_001735.1 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 58 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) GGTGCTACATCCATTGTGTAC 0.363000 4 111 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100838739 100838739 + Missense_Mutation SNP T T A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr6:100838739T>A ENST00000369208.3 - 12 2581 c.1799A>T c.(1798-1800)aAa>aTa p.K600I SIM1_ENST00000262901.4_Missense_Mutation_p.K600I P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 600 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GGAGTGTTTTTTCCCAGCCCC 0.473000 3 54 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160761829 160761829 + Silent SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:160761829G>A ENST00000274547.2 - 8 979 c.762C>T c.(760-762)atC>atT p.I254I GABRB2_ENST00000517901.1_Silent_p.I191I|GABRB2_ENST00000393959.1_Silent_p.I254I|GABRB2_ENST00000517547.1_Silent_p.I94I|GABRB2_ENST00000520240.1_Silent_p.I254I|GABRB2_ENST00000353437.6_Silent_p.I254I NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 254 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TGGTAATCAGGATGGAAGGCA 0.428000 3 34 0 0 1 0 0 SLC44A3 126969 broad.mit.edu 37 1 95356735 95356735 + Missense_Mutation SNP C C A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr1:95356735C>A ENST00000271227.6 + 13 1634 c.1532C>A c.(1531-1533)gCa>gAa p.A511E SLC44A3_ENST00000467909.1_Missense_Mutation_p.A463E|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000529450.1_Missense_Mutation_p.A478E|SLC44A3_ENST00000527077.1_Missense_Mutation_p.A443E|SLC44A3_ENST00000532427.1_Missense_Mutation_p.A431E|SLC44A3_ENST00000446120.2_Missense_Mutation_p.A475E NM_001114106.2|NM_001258340.1|NM_001258341.1 NP_001107578.1|NP_001245269.1|NP_001245270.1 Q8N4M1 CTL3_HUMAN solute carrier family 44, member 3 511 integral to membrane|plasma membrane choline transmembrane transporter activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1) 23 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) TGTACATCAGCAAAAGATGCA 0.303000 3 44 0.115264 0.118219 1 1 0 ARHGAP36 158763 broad.mit.edu 37 X 130215656 130215656 + Missense_Mutation SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chrX:130215656C>T ENST00000276211.5 + 2 362 c.17C>T c.(16-18)cCt>cTt p.P6L ARHGAP36_ENST00000370922.1_Intron NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 6 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 GGCTGCATTCCTTTTCTGAAG 0.527000 4 44 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197026176 197026176 + Missense_Mutation SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr1:197026176G>A ENST00000367412.1 - 7 1181 c.1138C>T c.(1138-1140)Cgt>Tgt p.R380C NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 380 Sushi 6. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 CATTTTCCACGATTACAAGTT 0.358000 3 43 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995349 140995349 + Missense_Mutation SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chrX:140995349C>T ENST00000285879.4 + 4 2445 c.2159C>T c.(2158-2160)tCc>tTc p.S720F MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 720 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TGGGAGGACTCCCTCTCTCCT 0.537000 HNSCC(15;0.026) 8 69 0 0 1 0 0 ST13 6767 broad.mit.edu 37 22 41252512 41252512 + Silent SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr22:41252512G>A ENST00000216218.3 - 1 514 c.33C>T c.(31-33)gcC>gcT p.A11A NM_003932.3 NP_003923.2 P50502 F10A1_HUMAN suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) 11 protein binding, bridging cervix(1)|large_intestine(1)|lung(3)|skin(1) 6 TTTTCACAAAGGCCCGAAGCT 0.642000 3 53 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56459286 56459286 + Silent SNP A A G TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr19:56459286A>G ENST00000291971.3 + 1 89 c.18A>G c.(16-18)ccA>ccG p.P6P NLRP8_ENST00000590542.1_Silent_p.P6P NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 6 cytoplasm ATP binding 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) ACGTGAATCCACCCTCTGACA 0.502000 5 81 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126724987 126724987 + Missense_Mutation SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr3:126724987G>A ENST00000251772.4 + 7 1963 c.1894G>A c.(1894-1896)Gac>Aac p.D632N PLXNA1_ENST00000393409.2_Missense_Mutation_p.D655N Q9UIW2 PLXA1_HUMAN plexin A1 655 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) TGCGTCTGTGGACTTCGTCTT 0.607000 4 61 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166179814 166179814 + Missense_Mutation SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr2:166179814G>A ENST00000375437.2 + 12 2110 c.1820G>A c.(1819-1821)cGa>cAa p.R607Q SCN2A_ENST00000375427.2_Missense_Mutation_p.R607Q|SCN2A_ENST00000357398.3_Missense_Mutation_p.R607Q|SCN2A_ENST00000283256.6_Missense_Mutation_p.R607Q NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 607 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) AATGACAGCCGAAGAGACTCT 0.572000 3 30 0 0 1 0 0 BRD9 65980 broad.mit.edu 37 5 871667 871667 + Missense_Mutation SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:871667G>A ENST00000323510.4 - 10 1107 c.1108C>T c.(1108-1110)Ccc>Tcc p.P370S BRD9_ENST00000388890.4_Missense_Mutation_p.P350S|BRD9_ENST00000483173.1_Missense_Mutation_p.P413S|BRD9_ENST00000467963.1_Missense_Mutation_p.P466S Q9H8M2 BRD9_HUMAN bromodomain containing 9 466 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) GGCTTCATGGGAACATTTCTT 0.398000 4 68 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17415306 17415306 + Splice_Site SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr11:17415306C>T ENST00000302539.4 - 38 4674 c.4548_splice c.e38-1 p.E1517_splice ABCC8_ENST00000389817.3_Splice_Site_p.E1516_splice NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1516 ABC transporter 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGGATGTTTTCCTGCCAAGTG 0.617000 4 102 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113166682 113166682 + Silent SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr9:113166682G>A ENST00000401783.2 - 39 9927 c.9591C>T c.(9589-9591)ttC>ttT p.F3197F SVEP1_ENST00000297826.5_Silent_p.F1123F|SVEP1_ENST00000374469.1_Silent_p.F3174F NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3197 Sushi 30. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TATTCACACTGAAATCGTCCC 0.413000 4 140 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134920399 134920399 + Missense_Mutation SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr3:134920399G>A ENST00000398015.3 + 12 2584 c.2214G>A c.(2212-2214)atG>atA p.M738I EPHB1_ENST00000493838.1_Missense_Mutation_p.M299I NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 738 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 TGGCTGAGATGAATTATGTGC 0.527000 6 147 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55972013 55972013 + Missense_Mutation SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr4:55972013G>A ENST00000263923.4 - 12 1926 c.1631C>T c.(1630-1632)tCc>tTc p.S544F NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 544 Ig-like C2-type 5. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CACGTGGAAGGAGATCACCCT 0.468000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 5 216 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995773 140995773 + Silent SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chrX:140995773C>T ENST00000285879.4 + 4 2869 c.2583C>T c.(2581-2583)tcC>tcT p.S861S MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 861 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCTCCTCCTCCACTTCATTGA 0.512000 HNSCC(15;0.026) 6 69 0 0 1 0 0 CHDC2 286464 broad.mit.edu 37 X 36103547 36103547 + Missense_Mutation SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chrX:36103547G>A ENST00000378660.1 + 5 721 c.533G>A c.(532-534)gGa>gAa p.G178E CHDC2_ENST00000313548.4_Missense_Mutation_p.G178E calponin homology domain containing 2 CATTTGAGTGGAAAAATGCCA 0.378000 3 24 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55873324 55873324 + Missense_Mutation SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr11:55873324G>A ENST00000313503.1 + 1 806 c.806G>A c.(805-807)gGa>gAa p.G269E NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) TATTCCTTGGGAAGAGATCAA 0.363000 HNSCC(53;0.14) 5 61 0 0 1 0 0 SLC12A7 10723 broad.mit.edu 37 5 1089128 1089128 + Missense_Mutation SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:1089128G>A ENST00000264930.5 - 4 501 c.458C>T c.(457-459)tCc>tTc p.S153F NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 153 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GATGAGGAAGGACTCCAGGAC 0.642000 5 95 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90001236 90001236 + Silent SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:90001236C>T ENST00000405460.2 + 37 8502 c.8406C>T c.(8404-8406)atC>atT p.I2802I NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2802 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CAGCCGGAATCGCCCTGCTTG 0.433000 3 58 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140221470 140221470 + Silent SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:140221470G>A ENST00000531613.1 + 1 564 c.564G>A c.(562-564)gaG>gaA p.E188E PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.E188E|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAACGATGAGAATAAACTGG 0.483000 4 54 0 0 1 0 0 OPN1SW 611 broad.mit.edu 37 7 128415721 128415721 + Missense_Mutation SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr7:128415721C>T ENST00000249389.2 - 1 123 c.124G>A c.(124-126)Ggc>Agc p.G42S NM_001708.2 NP_001699.1 P03999 OPSB_HUMAN opsin 1 (cone pigments), short-wave-sensitive 42 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1) 19 AAGACAGTGCCCATGAAAGCT 0.527000 9 68 0 0 1 0 0 KRT9 3857 broad.mit.edu 37 17 39724518 39724518 + Silent SNP G G A rs145501803 byFrequency TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr17:39724518G>A ENST00000246662.4 - 6 1355 c.1290C>T c.(1288-1290)atC>atT p.I430I KRT9_ENST00000588431.1_Silent_p.I197I NM_000226.3 NP_000217.2 P35527 K1C9_HUMAN keratin 9 430 Coil 2.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) TCTGGCACTCGATCTCTTGCC 0.542000 3 42 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152286076 152286076 + Missense_Mutation SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr1:152286076G>A ENST00000368799.1 - 3 1321 c.1286C>T c.(1285-1287)tCa>tTa p.S429L FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 429 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGAGTTTTCTGAATGTCCCTC 0.597000 Ichthyosis 7 265 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136990 40136990 + Missense_Mutation SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr11:40136990C>T ENST00000278198.2 - 2 2816 c.853G>A c.(853-855)Gac>Aac p.D285N LRRC4C_ENST00000530763.1_Missense_Mutation_p.D285N|LRRC4C_ENST00000528697.1_Missense_Mutation_p.D285N|LRRC4C_ENST00000527150.1_Missense_Mutation_p.D285N Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 285 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GTGAAGAGGTCATGAGGCAGT 0.443000 5 78 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33572653 33572653 + Missense_Mutation SNP A A G TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr11:33572653A>G ENST00000321505.4 + 4 2858 c.2678A>G c.(2677-2679)tAt>tGt p.Y893C KIAA1549L_ENST00000389726.3_Missense_Mutation_p.Y899C|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.Y899C KIAA1549-like AAGTTGGTGTATTTGCCTGCT 0.453000 8 108 0 0 1 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209338 140209338 + Silent SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:140209338C>T ENST00000529310.1 + 1 1776 c.1662C>T c.(1660-1662)ttC>ttT p.F554F PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_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) TGCAGGTGTTCGTGCTGGACG 0.692000 5 184 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143095438 143095438 + Silent SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr7:143095438G>A ENST00000275815.3 - 7 1526 c.1440C>T c.(1438-1440)acC>acT p.T480T NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 480 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) GCAGCTCATAGGTCAGGTTCG 0.612000 4 39 0 0 1 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12918881 12918881 + Missense_Mutation SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr1:12918881C>T ENST00000240189.2 + 2 104 c.17C>T c.(16-18)cCa>cTa p.P6L NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 6 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ATCCAGGCCCCACCGAGACTA 0.547000 4 82 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18842438 18842438 + RNA SNP G G A rs9604886 TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr22:18842438G>A ENST00000412938.1 + 0 2208 TGGGGAAGAGGAGAGTGGCTC 0.627000 4 12 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76075508 76075508 + RNA SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr15:76075508G>A ENST00000395215.3 + 0 1148 gcgaaaggaggaggagaggct 0.607000 5 198 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20248759 20248759 + Missense_Mutation SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr14:20248759C>T ENST00000315957.4 + 1 359 c.278C>T c.(277-279)tCc>tTc p.S93F NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AAGATAATTTCCTTTGGTGGA 0.448000 5 244 0 0 1 0 0 TTLL6 284076 broad.mit.edu 37 17 46863562 46863562 + Silent SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr17:46863562C>T ENST00000393382.3 - 12 1866 c.1725G>A c.(1723-1725)caG>caA p.Q575Q TTLL6_ENST00000433608.2_Silent_p.Q268Q NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 527 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 TGTCTTTCTGCTGTTGTTTCT 0.552000 5 391 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228482035 228482035 + Missense_Mutation SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr1:228482035C>T ENST00000570156.2 + 47 12675 c.12601C>T c.(12601-12603)Cgt>Tgt p.R4201C OBSCN_ENST00000359599.6_Missense_Mutation_p.R2619C|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3772C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R891C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3772C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R891C NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3244 Ig-like 43. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCTGCAGATCCGTGGCCTGGC 0.627000 4 92 0 0 1 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077883 19077883 + Missense_Mutation SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr11:19077883G>A ENST00000329773.2 - 2 154 c.67C>T c.(67-69)Ctt>Ttt p.L23F NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 23 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 CAAAGCAGAAGAAGGGCTTGG 0.552000 6 236 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 5 34 0 0 1 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140754623 140754623 + Missense_Mutation SNP C C A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:140754623C>A ENST00000517434.1 + 1 973 c.973C>A c.(973-975)Cca>Aca p.P325T PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGGGATGGGCCAGGTCTTCG 0.413000 4 121 0.150653 0.150653 1 1 0 BEST3 144453 broad.mit.edu 37 12 70049372 70049372 + Missense_Mutation SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr12:70049372C>T ENST00000330891.5 - 10 1548 c.1322G>A c.(1321-1323)aGa>aAa p.R441K BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.R335K|BEST3_ENST00000488961.1_Missense_Mutation_p.R228K NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 441 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GGGGGGGTTTCTTGAGGGCAC 0.587000 25 54 0 0 1 0 0 HAVCR2 84868 broad.mit.edu 37 5 156533879 156533879 + Silent SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:156533879G>A ENST00000307851.4 - 2 883 c.153C>T c.(151-153)gtC>gtT p.V51V HAVCR2_ENST00000522593.1_Silent_p.V51V|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000517358.1_5'UTR NM_032782.4 NP_116171.3 Q8TDQ0 HAVR2_HUMAN hepatitis A virus cellular receptor 2 51 Ig-like V-type. integral to membrane cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGCCCCAGCAGACGGGCACGA 0.552000 4 110 0 0 1 0 0 PSG11 5680 broad.mit.edu 37 19 43519394 43519394 + Nonsense_Mutation SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr19:43519394G>A ENST00000401740.1 - 4 941 c.838C>T c.(838-840)Cag>Tag p.Q280* PSG11_ENST00000320078.7_Nonsense_Mutation_p.Q280*|PSG11_ENST00000403486.1_Nonsense_Mutation_p.Q158*|PSG11_ENST00000306322.7_Nonsense_Mutation_p.Q158* Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 280 Ig-like C2-type 2. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) CCTGATAGCTGAAACTTCCCA 0.463000 6 119 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152281092 152281092 + Silent SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr1:152281092G>A ENST00000368799.1 - 3 6305 c.6270C>T c.(6268-6270)ttC>ttT p.F2090F FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2090 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGGTAGAGGAAAGACCCTG 0.562000 Ichthyosis 6 207 0 0 1 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52715946 52715946 + Missense_Mutation SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr19:52715946C>T ENST00000322088.6 + 5 569 c.511C>T c.(511-513)Cgg>Tgg p.R171W PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R116W|PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000473455.2_3'UTR NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 171 PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) CAGGTACTTCCGGAACCTGTG 0.612000 Mis clear cell ovarian carcinoma 3 32 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140221278 140221278 + Silent SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:140221278G>A ENST00000531613.1 + 1 372 c.372G>A c.(370-372)aaG>aaA p.K124K PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.K124K|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGAGGTGAAGGATGTTAATG 0.577000 4 138 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11190632 11190632 + Missense_Mutation SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr1:11190632G>A ENST00000361445.4 - 39 5643 c.5567C>T c.(5566-5568)aCc>aTc p.T1856I MTOR_ENST00000376838.1_Missense_Mutation_p.T61I NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 1856 FAT. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 GCTGTTCTCGGTGCTCTCGGC 0.622000 4 49 0 0 1 0 0 CYP1A2 1544 broad.mit.edu 37 15 75042125 75042125 + Silent SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr15:75042125C>T ENST00000343932.4 + 2 109 c.46C>T c.(46-48)Ctg>Ttg p.L16L NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 16 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) AGAGCTTCTCCTGGCCTCTGC 0.582000 4 201 0 0 1 0 0 UGT3A2 167127 broad.mit.edu 37 5 36039597 36039597 + Missense_Mutation SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:36039597G>A ENST00000282507.3 - 5 1158 c.1057C>T c.(1057-1059)Cct>Tct p.P353S UGT3A2_ENST00000545528.1_Missense_Mutation_p.P51S|UGT3A2_ENST00000513300.1_Missense_Mutation_p.P319S NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 353 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCACTCTGAGGAAGCCAGTCC 0.537000 3 43 0 0 1 0 0 E2F8 79733 broad.mit.edu 37 11 19246928 19246928 + Missense_Mutation SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr11:19246928G>A ENST00000527884.1 - 12 2493 c.2261C>T c.(2260-2262)cCt>cTt p.P754L RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.P754L NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 754 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCCAGACCCAGGGCTGGCAGA 0.527000 4 57 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43243169 43243169 + Missense_Mutation SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr19:43243169G>A ENST00000327495.5 - 2 321 c.137C>T c.(136-138)tCc>tTc p.S46F PSG3_ENST00000490592.1_5'UTR|PSG3_ENST00000595140.1_Missense_Mutation_p.S46F NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 46 Ig-like V-type. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) CTTCCCCTTGGAAACTTTGGT 0.463000 4 146 0 0 1 0 0 LAIR2 3904 broad.mit.edu 37 19 55019316 55019316 + Missense_Mutation SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr19:55019316G>A ENST00000301202.2 + 3 403 c.281G>A c.(280-282)gGa>gAa p.G94E LAIR2_ENST00000351841.2_Missense_Mutation_p.G94E NM_002288.4 NP_002279.2 Q6ISS4 LAIR2_HUMAN leukocyte-associated immunoglobulin-like receptor 2 94 Ig-like C2-type. extracellular region receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1) 18 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) GTAAGTGAAGGAAATGCCGGG 0.493000 4 64 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13830227 13830227 + Silent SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:13830227G>A ENST00000265104.4 - 37 6261 c.6157C>T c.(6157-6159)Ctg>Ttg p.L2053L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2053 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTACATGTCAGAATAATGGAA 0.408000 Kartagener syndrome 3 29 0 0 1 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762624 130762624 + Missense_Mutation SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr6:130762624G>A ENST00000392429.1 + 2 3435 c.1057G>A c.(1057-1059)Gag>Aag p.E353K TMEM200A_ENST00000545622.1_Missense_Mutation_p.E353K|TMEM200A_ENST00000296978.3_Missense_Mutation_p.E353K NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 353 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) TTCCATTGGGGAGTCGTTGTC 0.517000 3 38 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182156 140182156 + Silent SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:140182156C>T ENST00000522353.2 + 1 1374 c.1374C>T c.(1372-1374)tcC>tcT p.S458S PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.S458S|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTCGCAGTCCGAGTACACGG 0.667000 5 128 0 0 1 0 0 CAB39L 81617 broad.mit.edu 37 13 49951211 49951211 + Silent SNP T T G TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr13:49951211T>G ENST00000355854.4 - 3 665 c.168A>C c.(166-168)acA>acC p.T56T CAB39L_ENST00000347776.5_Silent_p.T56T|CAB39L_ENST00000409308.1_Silent_p.T56T|CAB39L_ENST00000410043.1_Silent_p.T56T NM_030925.2 NP_112187.2 Q9H9S4 CB39L_HUMAN calcium binding protein 39-like 56 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol protein binding breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1) 12 Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226) CTTTCTCGTTTGTACCACACA 0.438000 4 59 0 0 1 0 0 NDST1 3340 broad.mit.edu 37 5 149924963 149924963 + Missense_Mutation SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:149924963C>T ENST00000261797.6 + 11 2562 c.2060C>T c.(2059-2061)cCc>cTc p.P687L NDST1_ENST00000523767.1_Missense_Mutation_p.P687L NM_001543.4 NP_001534.1 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 687 Heparan sulfate N-sulfotransferase 1. heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAAGTGGCGCCCCGGCGGGCA 0.592000 7 199 0 0 1 0 0 SLC35G5 83650 broad.mit.edu 37 8 11188858 11188858 + Silent SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr8:11188858C>T ENST00000382435.4 + 1 462 c.243C>T c.(241-243)ctC>ctT p.L81L NM_054028.1 NP_473369.1 Q96KT7 AMCL2_HUMAN solute carrier family 35, member G5 81 DUF6 1. integral to membrane TCTTCCACCTCCCTATTGCCC 0.617000 5 214 0 0 1 0 0 UNC93A 54346 broad.mit.edu 37 6 167708053 167708053 + Missense_Mutation SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr6:167708053C>T ENST00000230256.3 + 2 311 c.136C>T c.(136-138)Ctc>Ttc p.L46F UNC93A_ENST00000366829.2_Missense_Mutation_p.L46F|UNC93A_ENST00000366830.2_3'UTR NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 46 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) GCTCAGCACCCTCTATGGAGG 0.612000 5 114 0 0 1 0 0 LILRB3 11025 broad.mit.edu 37 19 54723043 54723043 + Missense_Mutation SNP A A G TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr19:54723043A>G ENST00000391750.1 - 9 1517 c.1381T>C c.(1381-1383)Ttc>Ctc p.F461L LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000407860.2_Missense_Mutation_p.F478L|LILRA6_ENST00000440558.2_Missense_Mutation_p.F461L|LILRA6_ENST00000419410.2_Missense_Mutation_p.F461L|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000424807.1_Missense_Mutation_p.F461L|LILRB3_ENST00000245620.9_Missense_Mutation_p.F461L|LILRA6_ENST00000270464.5_Missense_Mutation_p.F461L|LILRB3_ENST00000346401.6_Missense_Mutation_p.F473L O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 461 cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) aggaggaggaagaggaggagg 0.597000 6 25 0 0 1 0 0 ITGA2B 3674 broad.mit.edu 37 17 42462331 42462331 + Missense_Mutation SNP A A G TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr17:42462331A>G ENST00000262407.5 - 7 815 c.784T>C c.(784-786)Ttc>Ctc p.F262L ITGA2B_ENST00000353281.4_Missense_Mutation_p.F262L|ITGA2B_ENST00000377068.3_Intron NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 262 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) TAGCCGTCGAAGTACTCTGGG 0.612000 4 113 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18846006 18846006 + RNA SNP A A G TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr22:18846006A>G ENST00000412938.1 + 0 3364 GCGCAGGCCGACACTCACTGA 0.617000 4 51 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108647691 108647691 + Missense_Mutation SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chrX:108647691C>T ENST00000218006.2 - 10 2282 c.1991G>A c.(1990-1992)aGa>aAa p.R664K NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 664 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 AACAAACTCTCTGTGGTGTAA 0.373000 3 42 0 0 1 0 0 DNMT3B 1789 broad.mit.edu 37 20 31374370 31374370 + Silent SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr20:31374370C>T ENST00000328111.2 + 5 690 c.369C>T c.(367-369)tcC>tcT p.S123S DNMT3B_ENST00000348286.2_Silent_p.S123S|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000353855.2_Silent_p.S123S|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000201963.3_Silent_p.S135S|DNMT3B_ENST00000344505.4_Silent_p.S123S NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 123 Interaction with DNMT1 and DNMT3A. negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCCCACGTTCCACCCGAGGCC 0.632000 4 52 0 0 1 0 0 CYP1A2 1544 broad.mit.edu 37 15 75042124 75042124 + Silent SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr15:75042124C>T ENST00000343932.4 + 2 108 c.45C>T c.(43-45)ctC>ctT p.L15L NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 15 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) CAGAGCTTCTCCTGGCCTCTG 0.577000 4 202 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140228407 140228407 + Silent SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:140228407C>T ENST00000378122.3 + 1 1051 c.327C>T c.(325-327)atC>atT p.I109I PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.I109I|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGAGGTGATCGTAGACAGGC 0.542000 4 175 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247769018 247769018 + Missense_Mutation SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr1:247769018C>T ENST00000320002.2 + 1 163 c.131C>T c.(130-132)aCc>aTc p.T44I RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GGAAACTTCACCATAATCATC 0.448000 6 122 0 0 1 0 0 PRPH 5630 broad.mit.edu 37 12 49691295 49691295 + Silent SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr12:49691295C>T ENST00000257860.4 + 6 2651 c.1152C>T c.(1150-1152)aaC>aaT p.N384N RP11-161H23.9_ENST00000553259.1_RNA NM_006262.3 NP_006253.2 P41219 PERI_HUMAN peripherin 384 Coil 2.|Rod. structural molecule activity kidney(1)|large_intestine(2)|lung(8)|skin(1) 12 AGCTCCTCAACGTCAAGATGG 0.692000 OREG0021790 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 37 0 0 1 0 0 PIGK 10026 broad.mit.edu 37 1 77558147 77558147 + Missense_Mutation SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr1:77558147G>A ENST00000370812.3 - 11 1123 c.1100C>T c.(1099-1101)cCt>cTt p.P367L PIGK_ENST00000370813.5_Missense_Mutation_p.P291L|PIGK_ENST00000445065.1_Missense_Mutation_p.P273L NM_005482.2 NP_005473.1 Q92643 GPI8_HUMAN phosphatidylinositol glycan anchor biosynthesis, class K 367 attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis GPI-anchor transamidase complex cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 19 AAAGCCCCCAGGAGGATGCCA 0.328000 3 41 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22382594 22382594 + Missense_Mutation SNP G G A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr15:22382594G>A ENST00000328795.4 + 1 213 c.122G>A c.(121-123)gGa>gAa p.G41E RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ATCCTCCCTGGAAATTTTCTC 0.443000 4 107 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140264024 140264024 + Missense_Mutation SNP C C T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:140264024C>T ENST00000289272.2 + 1 2171 c.2171C>T c.(2170-2172)tCg>tTg p.S724L PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S724L|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCGGTGCTCGGCACCGCCC 0.657000 5 120 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26881385 26881385 + Missense_Mutation SNP C C T rs143922310 TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:26881385C>T ENST00000231021.4 - 12 2402 c.2230G>A c.(2230-2232)Gat>Aat p.D744N NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 744 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D744N(1) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 GCTATGGAATCATTCCCTTCA 0.423000 5 79 0 0 1 0 0 LRRC4B 94030 broad.mit.edu 37 19 51052012 51052012 + Frame_Shift_Del DEL C C - TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr19:51052012delC ENST00000599957.1 - 2 281 c.84delG c.(82-84)tgfs p.W28fs LRRC4B_ENST00000389201.3_Frame_Shift_Del_p.W28fs Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 28 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) GGGAGAAGAGCCAGAGGAAGA 0.736 2 4 --- --- --- --- MN1 4330 broad.mit.edu 37 22 28194934 28194936 + In_Frame_Del DEL TGC TGC - rs45480998 TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr22:28194934_28194936delTGC ENST00000302326.4 - 1 2550_2552 c.1596_1598delGCA c.(1594-1599)caa>ca p.QQ548del NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 548 Poly-Gln. binding p.Q532Q(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 ctgctgctgttgctgctgctgct 0.650 T ETV6 """AML, meningioma""" 3 6 --- --- --- --- MAGED1 9500 broad.mit.edu 37 X 51638563 51638563 + Frame_Shift_Del DEL A A - TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chrX:51638563delA ENST00000375695.2 + 4 781 c.628delA c.(628-630)aafs p.K210fs MAGED1_ENST00000375722.1_Frame_Shift_Del_p.K154fs|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Frame_Shift_Del_p.K154fs|MAGED1_ENST00000326587.7_Frame_Shift_Del_p.K154fs NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 154 apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) TGCCACTACTAAAGTGGGCCC 0.502 Multiple Myeloma(10;0.10) 2 4 --- --- --- ---