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 PCNXL2 80003 broad.mit.edu 37 1 233134030 233134030 + Missense_Mutation SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr1:233134030C>T ENST00000258229.8 - 32 5992 c.5758G>A c.(5758-5760)Ggg>Agg p.G1920R PCNXL2_ENST00000344698.2_Missense_Mutation_p.G572R NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1920 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GATGACACCCCGTGCTGAGCA 0.612000 8 31 0 0 1 0 0 SUCO 51430 broad.mit.edu 37 1 172558356 172558356 + Silent SNP T T C TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr1:172558356T>C ENST00000367723.3 + 17 2695 c.2571T>C c.(2569-2571)agT>agC p.S857S SUCO_ENST00000263688.3_Silent_p.S705S NM_016227.2 NP_057311.2 SUN domain containing ossification factor TAAGTAGTAGTATGCACCAGG 0.393000 4 166 0 0 1 0 0 GPRC5C 55890 broad.mit.edu 37 17 72436927 72436927 + Missense_Mutation SNP G G A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr17:72436927G>A ENST00000392627.1 + 2 2273 c.1147G>A c.(1147-1149)Gtg>Atg p.V383M GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Missense_Mutation_p.V23M|GPRC5C_ENST00000392629.2_Missense_Mutation_p.V350M NM_022036.2 NP_071319.2 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor, family C, group 5, member C 338 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 GAGCATGTTCGTGGAGAACAA 0.577000 4 57 0 0 1 0 0 CTDSPL 10217 broad.mit.edu 37 3 38022299 38022299 + Missense_Mutation SNP G G A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr3:38022299G>A ENST00000443503.2 + 7 979 c.739G>A c.(739-741)Gag>Aag p.E247K CTDSPL_ENST00000310189.3_3'UTR|CTDSPL_ENST00000273179.5_Missense_Mutation_p.E258K NM_005808.2 NP_005799.2 O15194 CTDSL_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like 258 FCP1 homology. nucleus metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|large_intestine(4)|skin(1) 8 Melanoma(1037;0.0122) KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902) CCCCTTCTTTGAGGGCCTGAG 0.612000 16 73 0 0 1 0 0 OR11H12 440153 broad.mit.edu 37 14 19378016 19378016 + Silent SNP C C A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr14:19378016C>A ENST00000550708.1 + 1 495 c.423C>A c.(421-423)atC>atA p.I141I NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ACCTTGCTATCTGCCGTCCCT 0.453000 10 285 1.02788e-11 1.08835e-11 1 1 0 IMP4 92856 broad.mit.edu 37 2 131100505 131100505 + Translation_Start_Site SNP G G A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr2:131100505G>A ENST00000259239.3 + 0 708 IMP4_ENST00000409935.1_De_novo_Start_InFrame NM_033416.1 NP_219484.1 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 18 Colorectal(110;0.1) CGGCACTCAAGATGGTAGGAG 0.637000 39 132 0 0 1 0 0 MC4R 4160 broad.mit.edu 37 18 58038902 58038902 + Silent SNP A A T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr18:58038902A>T ENST00000299766.3 - 1 1099 c.681T>A c.(679-681)gcT>gcA p.A227A NM_005912.2 NP_005903.2 P32245 MC4R_HUMAN melanocortin 4 receptor 227 feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(73;0.0946) CGGGGAGGACAGCAATCCTCT 0.532000 5 70 0 0 1 0 0 FOXJ1 2302 broad.mit.edu 37 17 74136183 74136183 + Silent SNP C C G TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr17:74136183C>G ENST00000322957.6 - 2 648 c.294G>C c.(292-294)cgG>cgC p.R98R NM_001454.3 NP_001445.2 Q92949 FOXJ1_HUMAN forkhead box J1 98 actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(1)|liver(1)|pancreas(1)|skin(1) 4 LUSC - Lung squamous cell carcinoma(166;0.187) GGGGCGCGCTCCGCGACGTGC 0.736000 9 18 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49428219 49428219 + Missense_Mutation SNP G G A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr12:49428219G>A ENST00000301067.7 - 37 10480 c.10481C>T c.(10480-10482)cCg>cTg p.P3494L NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AAAAGTGGGCGGGTTGGGACG 0.582000 11 32 0 0 1 0 0 CYBB 1536 broad.mit.edu 37 X 37641386 37641386 + Missense_Mutation SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chrX:37641386C>T ENST00000378588.4 + 2 158 c.91C>T c.(91-93)Cgg>Tgg p.R31W CYBB_ENST00000536160.1_5'UTR|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Intron NM_000397.3 NP_000388.2 P04839 CY24B_HUMAN cytochrome b-245, beta polypeptide 31 electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2) 32 CTGGTATTACCGGGTTTATGA 0.403000 43 40 0 0 1 0 0 MPZ 4359 broad.mit.edu 37 1 161276600 161276600 + Missense_Mutation SNP T T C TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr1:161276600T>C ENST00000533357.1 - 3 412 c.346A>G c.(346-348)Aac>Gac p.N116D MPZ_ENST00000336559.4_Missense_Mutation_p.N116D|MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000360451.6_Missense_Mutation_p.N126D NM_000530.6 NP_000521.2 P25189 MYP0_HUMAN myelin protein zero 116 Ig-like V-type. N -> H (in DSS; associated on the same allele as Thr-114 and Asn-128 in one patient). synaptic transmission integral to plasma membrane structural molecule activity central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 10 all_cancers(52;6.96e-17)|all_hematologic(112;0.093) Breast(1374;0.181) BRCA - Breast invasive adenocarcinoma(70;0.00376) TAGTCTAGGTTGTGTATGACA 0.517000 26 105 0 0 1 0 0 OR4L1 122742 broad.mit.edu 37 14 20528635 20528635 + Silent SNP T T C TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr14:20528635T>C ENST00000315683.1 + 1 432 c.432T>C c.(430-432)ttT>ttC p.F144F NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TAAAGGGGTTTGCGATACTTT 0.393000 60 113 0 0 1 0 0 IRF4 3662 broad.mit.edu 37 6 407527 407527 + Missense_Mutation SNP G G A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr6:407527G>A ENST00000380956.4 + 9 1411 c.1285G>A c.(1285-1287)Gat>Aat p.D429N NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 429 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) GAGGGGCTACGATTTACCAGA 0.363000 T IGH@ MM 91 48 0 0 1 0 0 WDR59 79726 broad.mit.edu 37 16 74908337 74908337 + Missense_Mutation SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr16:74908337C>T ENST00000262144.6 - 26 2825 c.2695G>A c.(2695-2697)Ggc>Agc p.G899S NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 899 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 CAGTACACGCCGAACTCTGGA 0.562000 10 31 0 0 1 0 0 PAPD7 11044 broad.mit.edu 37 5 6754886 6754886 + Missense_Mutation SNP C C G TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr5:6754886C>G ENST00000230859.6 + 13 1586 c.1457C>G c.(1456-1458)tCc>tGc p.S486C NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 486 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 ATGAAACTGTCCATGAAGGGC 0.612000 4 30 0 0 1 0 0 IKZF2 22807 broad.mit.edu 37 2 213914478 213914478 + Missense_Mutation SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr2:213914478C>T ENST00000457361.1 - 5 701 c.533G>A c.(532-534)aGa>aAa p.R178K IKZF2_ENST00000374319.4_Missense_Mutation_p.R152K|IKZF2_ENST00000451136.2_Missense_Mutation_p.R152K|IKZF2_ENST00000413091.3_Missense_Mutation_p.R178K|IKZF2_ENST00000342002.2_Missense_Mutation_p.R184K|IKZF2_ENST00000434687.1_Missense_Mutation_p.R178K|IKZF2_ENST00000421754.2_Missense_Mutation_p.R152K|IKZF2_ENST00000374327.4_Intron NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) GTCCCTTCTTCTACAGGCGTA 0.453000 27 32 0 0 1 0 0 SCAF8 22828 broad.mit.edu 37 6 155123109 155123109 + Missense_Mutation SNP A A G TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr6:155123109A>G ENST00000367178.3 + 7 1187 c.611A>G c.(610-612)cAa>cGa p.Q204R SCAF8_ENST00000417268.1_Missense_Mutation_p.Q204R|SCAF8_ENST00000367186.4_Missense_Mutation_p.Q270R NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 204 Gln-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 CTCCAGCTTCAACAATTAATA 0.383000 4 164 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179730506 179730506 + Silent SNP G G A rs142544322 TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr2:179730506G>A ENST00000420890.2 - 17 2829 c.2712C>T c.(2710-2712)gaC>gaT p.D904D CCDC141_ENST00000295723.5_Silent_p.D329D NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 329 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CATTTATCTCGTCTCTCATGG 0.522000 66 182 0 0 1 0 0 DVL3 1857 broad.mit.edu 37 3 183882067 183882067 + Missense_Mutation SNP G G A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr3:183882067G>A ENST00000313143.3 + 3 492 c.244G>A c.(244-246)Gag>Aag p.E82K DVL3_ENST00000431765.1_Missense_Mutation_p.E82K|DVL3_ENST00000462665.1_3'UTR|EIF2B5_ENST00000444495.1_Intron NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 82 DIX. canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) GGTGTCAGCTGAGGGCTCACA 0.577000 18 165 0 0 1 0 0 TPPP 11076 broad.mit.edu 37 5 666136 666136 + Silent SNP G G A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr5:666136G>A ENST00000360578.5 - 3 535 c.414C>T c.(412-414)cgC>cgT p.R138R CEP72_ENST00000514507.1_3'UTR NM_007030.2 NP_008961.1 O94811 TPPP_HUMAN tubulin polymerization promoting protein 138 microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization nucleus|perinuclear region of cytoplasm|soluble fraction calcium ion binding|microtubule binding kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 Ovarian(839;0.0563) Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GBM - Glioblastoma multiforme(108;0.0191) TGTGCACCTCGCGAACGGCCT 0.657000 33 50 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 66978739 66978739 + Nonsense_Mutation SNP G G A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr17:66978739G>A ENST00000340001.4 - 37 4895 c.4684C>T c.(4684-4686)Cga>Tga p.R1562* ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Nonsense_Mutation_p.R1524* NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1562 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) GATAAAGGTCGCACATCCTCA 0.453000 5 216 0 0 1 0 0 RUFY2 55680 broad.mit.edu 37 10 70136632 70136632 + Missense_Mutation SNP T T C TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr10:70136632T>C ENST00000388768.2 - 13 1734 c.1408A>G c.(1408-1410)Atc>Gtc p.I470V RUFY2_ENST00000265865.3_Missense_Mutation_p.I25V|RUFY2_ENST00000602465.1_Missense_Mutation_p.I435V NM_017987.4 NP_060457.4 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 484 nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 TTTTGGGAGATTTGTTTCTGC 0.383000 48 128 0 0 1 0 0 DPY19L2P2 349152 broad.mit.edu 37 7 102912208 102912208 + RNA SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr7:102912208C>T ENST00000312132.4 - 0 2371 CGTTTTACTGCATTAATTACA 0.333000 4 96 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128326338 128326338 + Missense_Mutation SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr6:128326338C>T ENST00000368227.3 - 15 2751 c.2385G>A c.(2383-2385)atG>atA p.M795I PTPRK_ENST00000368207.3_Missense_Mutation_p.M805I|PTPRK_ENST00000368226.4_Missense_Mutation_p.M795I|PTPRK_ENST00000368210.3_Missense_Mutation_p.M795I|PTPRK_ENST00000368213.5_Missense_Mutation_p.M795I|PTPRK_ENST00000532331.1_Missense_Mutation_p.M795I|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.M794I Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 794 cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) CCATGTGAGTCATCTCCTGCC 0.458000 18 55 0 0 1 0 0 VEPH1 79674 broad.mit.edu 37 3 157031490 157031490 + Missense_Mutation SNP C C A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr3:157031490C>A ENST00000362010.2 - 11 2237 c.1930G>T c.(1930-1932)Gct>Tct p.A644S RP11-550I24.2_ENST00000494885.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.A644S|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 644 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) TCCCACAGAGCTCTGAGGAAT 0.478000 6 110 0.00116845 0.00117779 1 1 0 LRIG3 121227 broad.mit.edu 37 12 59271321 59271321 + Silent SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr12:59271321C>T ENST00000320743.3 - 15 2683 c.2397G>A c.(2395-2397)tcG>tcA p.S799S LRIG3_ENST00000379141.4_Silent_p.S739S NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 799 integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) CATCGTCTAACGATGGGGCTG 0.562000 T ROS1 NSCLC 41 52 0 0 1 0 0 ZNF677 342926 broad.mit.edu 37 19 53740939 53740939 + Nonsense_Mutation SNP G G T rs143592638 TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr19:53740939G>T ENST00000333952.4 - 5 1206 c.1041C>A c.(1039-1041)taC>taA p.Y347* ZNF677_ENST00000598513.1_Nonsense_Mutation_p.Y347* Q86XU0 ZN677_HUMAN zinc finger protein 677 347 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) CATTACATTTGTAAGGTTTCT 0.378000 23 83 7.41877e-09 7.72533e-09 1 1 0 CYP4F11 57834 broad.mit.edu 37 19 16034870 16034870 + Missense_Mutation SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr19:16034870C>T ENST00000326742.7 - 6 671 c.670G>A c.(670-672)Gcc>Acc p.A224T CYP4F11_ENST00000402119.3_Missense_Mutation_p.A224T|CYP4F11_ENST00000248041.7_Missense_Mutation_p.A224T Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 224 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 TCCAAGATGGCGGCAATATAT 0.498000 4 150 0 0 1 0 0 APLP1 333 broad.mit.edu 37 19 36362190 36362190 + Missense_Mutation SNP T T C TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr19:36362190T>C ENST00000221891.4 + 4 668 c.476T>C c.(475-477)tTg>tCg p.L159S APLP1_ENST00000586861.1_Missense_Mutation_p.L153S|APLP1_ENST00000537454.2_Missense_Mutation_p.L120S NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 159 Copper-binding (By similarity). apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGCCGGTTCTTGCACCAGGAG 0.622000 9 26 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124418865 124418865 + Nonsense_Mutation SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr3:124418865C>T ENST00000360013.3 + 56 8108 c.7981C>T c.(7981-7983)Cga>Tga p.R2661* KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964* NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2660 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GGAGTTTGTGCGACTTCCAGA 0.597000 4 179 0 0 1 0 0 ARID3B 10620 broad.mit.edu 37 15 74883672 74883672 + Silent SNP T T C TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr15:74883672T>C ENST00000346246.5 + 6 1293 c.1062T>C c.(1060-1062)ctT>ctC p.L354L NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 354 Interaction with RB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.L354L(1) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 CCCCTGCCCTTCTCTCCCCAC 0.647000 4 125 0 0 1 0 0 DNM1 1759 broad.mit.edu 37 9 131010933 131010933 + Silent SNP G G C TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr9:131010933G>C ENST00000341179.7 + 19 2069 c.1977G>C c.(1975-1977)gtG>gtC p.V659V DNM1_ENST00000486160.1_Silent_p.V659V|DNM1_ENST00000393594.3_Silent_p.V659V|DNM1_ENST00000372923.3_Silent_p.V659V|DNM1_ENST00000475805.1_Silent_p.V659V NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 659 GED. receptor-mediated endocytosis microtubule GTP binding|GTPase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 AACGGCAAGTGGAGACCATCC 0.537000 24 258 0 0 1 0 0 SOS2 6655 broad.mit.edu 37 14 50612018 50612018 + Missense_Mutation SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr14:50612018C>T ENST00000216373.5 - 16 2811 c.2537G>A c.(2536-2538)cGg>cAg p.R846Q SOS2_ENST00000543680.1_Missense_Mutation_p.R813Q NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 846 Ras-GEF. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) TACTGCCACCCGTTCTTCAAA 0.328000 4 104 0 0 1 0 0 CYLC2 1539 broad.mit.edu 37 9 105757679 105757679 + Splice_Site SNP T T C TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr9:105757679T>C ENST00000374798.3 + 1 87 c.17_splice c.e1+1 p.F6_splice CYLC2_ENST00000487798.1_Splice_Site_p.F6_splice NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 6 cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) CTCCCAAGATTGTAAGTCAAA 0.308000 115 145 0 0 1 0 0 MMRN2 79812 broad.mit.edu 37 10 88717142 88717142 + Missense_Mutation SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr10:88717142C>T ENST00000372027.4 - 1 230 c.157G>A c.(157-159)Gta>Ata p.V53I NM_024756.2 NP_079032.2 Q9H8L6 MMRN2_HUMAN multimerin 2 53 extracellular space breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1) 19 TACCGTCCTACGGGGTCCTTG 0.617000 11 80 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 66878987 66878987 + Missense_Mutation SNP T T C TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr13:66878987T>C ENST00000544246.1 - 5 4205 c.3514A>G c.(3514-3516)Aag>Gag p.K1172E PCDH9_ENST00000328454.5_Missense_Mutation_p.K1138E|PCDH9_ENST00000377865.2_Missense_Mutation_p.K1172E|PCDH9_ENST00000456367.1_Missense_Mutation_p.K1138E|PCDH9-AS1_ENST00000430861.1_RNA NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 1172 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TTCACAAGCTTGTCCTTCTTC 0.498000 24 97 0 0 1 0 0 TAS2R19 259294 broad.mit.edu 37 12 11175081 11175081 + Silent SNP T T A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr12:11175081T>A ENST00000390673.2 - 1 138 c.90A>T c.(88-90)gtA>gtT p.V30V TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176888.1 NP_795369.1 P59542 T2R19_HUMAN taste receptor, type 2, member 19 30 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 CAATGACATTTACTAGGGCTA 0.408000 4 116 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44933309 44933309 + Silent SNP G G A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr19:44933309G>A ENST00000291187.4 - 6 1951 c.1629C>T c.(1627-1629)tgC>tgT p.C543C CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Silent_p.C549C NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 549 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) AGCTCTTCCCGCACTCGCATT 0.522000 74 96 0 0 1 0 0 BCAN 63827 broad.mit.edu 37 1 156626137 156626137 + Missense_Mutation SNP G G T rs138466651 TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr1:156626137G>T ENST00000329117.4 + 9 2342 c.2006G>T c.(2005-2007)cGc>cTc p.R669L RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 669 EGF-like. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GAAGGGGTCCGCTGCCTATGT 0.637000 12 169 3.27435e-08 3.38171e-08 1 1 0 RNF217 154214 broad.mit.edu 37 6 125379204 125379204 + Silent SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr6:125379204C>T ENST00000521654.2 + 3 1233 c.1233C>T c.(1231-1233)agC>agT p.S411S RNF217_ENST00000275184.6_Silent_p.S55S|RNF217_ENST00000560949.1_Silent_p.S176S|RNF217_ENST00000368414.2_5'UTR|RNF217_ENST00000359704.2_Silent_p.S119S Q8TC41 RN217_HUMAN ring finger protein 217 119 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) ACTGGGCCAGCGAAATTGAGC 0.448000 17 48 0 0 1 0 0 RSC1A1 6248 broad.mit.edu 37 1 15986468 15986468 + Silent SNP T T G TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr1:15986468T>G ENST00000345034.1 + 1 105 c.105T>G c.(103-105)gcT>gcG p.A35A DDI2_ENST00000480945.1_3'UTR NM_006511.1 NP_006502.1 Q92681 RSCA1_HUMAN regulatory solute carrier protein, family 1, member 1 35 negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport cell junction|Golgi apparatus|nucleus ion channel inhibitor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1) 11 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTGTCTCTGCTTCAGTCTGCC 0.473000 54 233 0 0 1 0 0 MEGF9 1955 broad.mit.edu 37 9 123367875 123367875 + Missense_Mutation SNP T T C TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr9:123367875T>C ENST00000373930.3 - 6 1513 c.1402A>G c.(1402-1404)Aat>Gat p.N468D MEGF9_ENST00000426959.1_Missense_Mutation_p.N505D NM_001080497.2 NP_001073966.2 Q9H1U4 MEGF9_HUMAN multiple EGF-like-domains 9 468 integral to membrane calcium ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 16 AAAGAGGCATTGGAAACCAAA 0.363000 10 6 0 0 1 0 0 FRMPD3 84443 broad.mit.edu 37 X 106844000 106844000 + Missense_Mutation SNP G G A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chrX:106844000G>A ENST00000276185.4 + 16 2830 c.2830G>A c.(2830-2832)Gaa>Aaa p.E944K Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 944 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 GGCAGGCCTAGAAATGTCACT 0.567000 7 18 0 0 1 0 0 GAL3ST4 79690 broad.mit.edu 37 7 99758242 99758242 + Missense_Mutation SNP T T C TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr7:99758242T>C ENST00000360039.4 - 4 1162 c.770A>G c.(769-771)aAt>aGt p.N257S GAL3ST4_ENST00000426974.2_Missense_Mutation_p.N195S|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.M156V|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.N257S|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.M156V NM_024637.4 NP_078913.3 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 257 cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GATGAGGGCATTGGGATTGAG 0.557000 60 141 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207679361 207679361 + Silent SNP C C T rs142605009 by1000genomes TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr1:207679361C>T ENST00000367049.4 + 2 234 c.234C>T c.(232-234)tcC>tcT p.S78S CR1_ENST00000367052.1_Silent_p.S78S|CR1_ENST00000367051.1_Silent_p.S78S|CR1_ENST00000367053.1_Silent_p.S78S|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Silent_p.S78S NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 78 Sushi 1. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTGGTTATTCCGGAAGACCGT 0.483000 27 179 0 0 1 0 0 IL6 3569 broad.mit.edu 37 7 22767071 22767071 + Missense_Mutation SNP G G A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr7:22767071G>A ENST00000404625.1 + 3 487 c.28G>A c.(28-30)Ggt>Agt p.G10S AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000258743.5_Missense_Mutation_p.G10S|IL6_ENST00000420258.2_Missense_Mutation_p.G64S|IL6_ENST00000407492.1_Intron|IL6_ENST00000406575.1_Missense_Mutation_p.G10S|IL6_ENST00000401630.3_Intron|IL6_ENST00000401651.1_Intron P05231 IL6_HUMAN interleukin 6 (interferon, beta 2) 10 acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan extracellular space|interleukin-6 receptor complex cytokine activity|growth factor activity|interleukin-6 receptor binding breast(1)|endometrium(2)|large_intestine(4)|lung(1) 8 Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641) AGGCGCCTTCGGTCCAGTTGC 0.687000 OREG0017891 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 29 0 0 1 0 0 ENPP1 5167 broad.mit.edu 37 6 132201045 132201045 + Missense_Mutation SNP A A T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr6:132201045A>T ENST00000360971.2 + 20 1991 c.1971A>T c.(1969-1971)ttA>ttT p.L657F NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 657 Nuclease. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) ATGAAACTTTACCCTATGGAA 0.378000 57 63 0 0 1 0 0 KIF23 9493 broad.mit.edu 37 15 69732777 69732777 + Missense_Mutation SNP G G A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr15:69732777G>A ENST00000260363.4 + 17 2135 c.2018G>A c.(2017-2019)cGa>cAa p.R673Q KIF23_ENST00000558585.1_Missense_Mutation_p.R490Q|KIF23_ENST00000559279.1_Missense_Mutation_p.R673Q|KIF23_ENST00000352331.4_Missense_Mutation_p.R673Q|KIF23_ENST00000537891.1_Missense_Mutation_p.R490Q|KIF23_ENST00000395392.2_Missense_Mutation_p.R673Q NM_138555.2 NP_612565.1 Q02241 KIF23_HUMAN kinesin family member 23 673 blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 TCTCGGGAGCGAGATCGAGAA 0.388000 10 62 0 0 1 0 0 RIC3 79608 broad.mit.edu 37 11 8161664 8161664 + Missense_Mutation SNP G G T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr11:8161664G>T ENST00000343202.4 - 2 266 c.201C>A c.(199-201)ttC>ttA p.F67L RIC3_ENST00000539720.1_Missense_Mutation_p.F18L|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000419822.2_Missense_Mutation_p.F67L|RIC3_ENST00000425599.2_Missense_Mutation_p.F67L|RIC3_ENST00000309737.6_Missense_Mutation_p.F67L NM_001206671.2|NM_024557.4 NP_001193600.1|NP_078833.3 Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone 67 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) GAGACCTCTGGAAACGAGCCC 0.507000 28 70 4.22769e-11 4.43908e-11 1 1 0 LOC220729 220729 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 5 216 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109370370 109370370 + Silent SNP G G A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr2:109370370G>A ENST00000283195.6 + 15 2271 c.2145G>A c.(2143-2145)agG>agA p.R715R NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 715 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GAAAGACCAGGGACTACCTAA 0.353000 108 295 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75898158 75898158 + Missense_Mutation SNP A A G TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr6:75898158A>G ENST00000322507.8 - 8 1226 c.917T>C c.(916-918)gTg>gCg p.V306A COL12A1_ENST00000483888.2_Missense_Mutation_p.V306A|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.V306A NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 306 VWFA 1. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CTGAATATCCACAATTGCATC 0.418000 8 161 0 0 1 0 0 AP3S2 10239 broad.mit.edu 37 15 90378853 90378853 + Missense_Mutation SNP G G A rs140200217 TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr15:90378853G>A ENST00000336418.4 - 6 868 c.476C>T c.(475-477)gCg>gTg p.A159V AP3S2_ENST00000560771.1_5'UTR|AP3S2_ENST00000558011.1_Missense_Mutation_p.A171V|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.A360V|AP3S2_ENST00000560940.1_Intron NM_005829.4 NP_005820.1 adaptor-related protein complex 3, sigma 2 subunit NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1) 6 Lung NSC(78;0.0181)|all_lung(78;0.0384) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223) CACAGCCCGCGCAGGGGCTGC 0.433000 43 117 0 0 1 0 0 AHCTF1 25909 broad.mit.edu 37 1 247016551 247016551 + Missense_Mutation SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr1:247016551C>T ENST00000366508.1 - 32 4646 c.4510G>A c.(4510-4512)Gaa>Aaa p.E1504K AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E1478K|AHCTF1_ENST00000391829.2_Missense_Mutation_p.E1469K Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1469 Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) ATAGGACCTTCAGAGATAGTG 0.388000 28 73 0 0 1 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6435720 6435720 + Nonsense_Mutation SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr12:6435720C>T ENST00000449001.2 + 13 2049 c.1555C>T c.(1555-1557)Cag>Tag p.Q519* PLEKHG6_ENST00000304581.8_Nonsense_Mutation_p.Q81*|PLEKHG6_ENST00000011684.7_Nonsense_Mutation_p.Q551*|PLEKHG6_ENST00000396988.3_Nonsense_Mutation_p.Q551* NM_001144857.1 NP_001138329.1 Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 551 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 GGAGGGCTCTCAGAGCAGCGC 0.597000 17 23 0 0 1 0 0 ZNF226 7769 broad.mit.edu 37 19 44680435 44680435 + Silent SNP T T C TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr19:44680435T>C ENST00000590089.1 + 7 1387 c.1020T>C c.(1018-1020)tgT>tgC p.C340C ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Silent_p.C340C|ZNF226_ENST00000337433.5_Silent_p.C340C Q9NYT6 ZN226_HUMAN zinc finger protein 226 340 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) GTAAGCAATGTGGGAAAGGTT 0.453000 18 99 0 0 1 0 0 MRPL51 51258 broad.mit.edu 37 12 6602125 6602125 + Silent SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr12:6602125C>T ENST00000229238.3 - 2 554 c.93G>A c.(91-93)ttG>ttA p.L31L MRPL51_ENST00000543703.1_Intron|MRPL51_ENST00000543164.1_5'UTR NM_016497.3 NP_057581.2 Q4U2R6 RM51_HUMAN mitochondrial ribosomal protein L51 31 translation mitochondrial large ribosomal subunit protein binding|structural constituent of ribosome kidney(2)|large_intestine(1)|lung(3) 6 TTATACCGATCAATCTAGGCA 0.522000 18 107 0 0 1 0 0 AR 367 broad.mit.edu 37 X 66943631 66943631 + Missense_Mutation SNP T T C TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chrX:66943631T>C ENST00000374690.3 + 8 3235 c.2711T>C c.(2710-2712)gTg>gCg p.V904A AR_ENST00000396043.2_Missense_Mutation_p.V372A|AR_ENST00000396044.3_3'UTR NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 903 Interaction with MYST2.|Ligand-binding. P -> H (in AIS).|P -> S (in AIS). cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) TCTGTGCAAGTGCCCAAGATC 0.502000 Androgen Insensitivity Syndrome 8 132 0 0 1 0 0 PLD5 200150 broad.mit.edu 37 1 242511527 242511527 + Silent SNP G G A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr1:242511527G>A ENST00000427495.1 - 2 146 c.21C>T c.(19-21)atC>atT p.I7I PLD5_ENST00000536534.1_Silent_p.I69I|PLD5_ENST00000442594.2_5'UTR NM_001195811.1|NM_001195812.1 NP_001182740.1|NP_001182741.1 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 69 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) CAAAGATCACGATGCACTTCT 0.453000 43 77 0 0 1 0 0 OR4D10 390197 broad.mit.edu 37 11 59245409 59245409 + Silent SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr11:59245409C>T ENST00000530162.1 + 1 564 c.507C>T c.(505-507)tgC>tgT p.C169C NM_001004705.1 NP_001004705.1 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, member 10 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCCCTTTCTGCGGACCCAATG 0.498000 47 112 0 0 1 0 0 PCCA 5095 broad.mit.edu 37 13 100992479 100992479 + Nonsense_Mutation SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr13:100992479C>T ENST00000376285.1 + 18 1647 c.1609C>T c.(1609-1611)Cag>Tag p.Q537* PCCA_ENST00000376286.4_Nonsense_Mutation_p.Q511*|PCCA_ENST00000376279.3_Nonsense_Mutation_p.Q537* NM_000282.3 NP_000273.2 P05165 PCCA_HUMAN propionyl CoA carboxylase, alpha polypeptide 537 fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2) 26 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) TGTGGCATTCCAGTTAAGAGC 0.353000 15 63 0 0 1 0 0 CXorf23 256643 broad.mit.edu 37 X 19984742 19984742 + Missense_Mutation SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chrX:19984742C>T ENST00000379687.3 - 2 100 c.67G>A c.(67-69)Gct>Act p.A23T CXorf23_ENST00000356980.3_Missense_Mutation_p.A23T|CXorf23_ENST00000379682.4_Missense_Mutation_p.A23T NM_198279.3 NP_938020.2 A2AJT9 CX023_HUMAN chromosome X open reading frame 23 23 mitochondrion endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1) 11 TAGTGTTCAGCATTTCTAGGT 0.403000 45 34 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2622102 2622102 + Missense_Mutation SNP G G A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr12:2622102G>A ENST00000399655.1 + 9 1607 c.1342G>A c.(1342-1344)Gat>Aat p.D448N CACNA1C_ENST00000399649.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D448N|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D448N|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D448N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D448N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D448N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D448N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000491104.1_3'UTR NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 448 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CGAAGACATCGATCCTGAGAA 0.567000 10 13 0 0 1 0 0 FMO2 2327 broad.mit.edu 37 1 171162507 171162507 + Missense_Mutation SNP C C A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr1:171162507C>A ENST00000441535.1 + 3 283 c.166C>A c.(166-168)Caa>Aaa p.Q56K FMO2_ENST00000529935.1_3'UTR|RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.Q56K NM_001460.2 NP_001451.1 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 (non-functional) 56 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AAGTATCTATCAATCTGTCGT 0.353000 49 176 1.67886e-27 1.808e-27 1 1 0 TBX3 6926 broad.mit.edu 37 12 115120692 115120692 + Missense_Mutation SNP A A G TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr12:115120692A>G ENST00000349155.2 - 1 1277 c.314T>C c.(313-315)gTg>gCg p.V105A TBX3_ENST00000257566.3_Missense_Mutation_p.V105A NM_005996.3 NP_005987.3 O15119 TBX3_HUMAN T-box 3 105 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) CTCCAGGTGCACCTTGGGGTC 0.612000 40 49 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65490123 65490123 + Missense_Mutation SNP T T C TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr15:65490123T>C ENST00000261883.4 - 9 2667 c.2501A>G c.(2500-2502)cAa>cGa p.Q834R NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 834 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CTCCACTGCTTGCAGTTCCTC 0.562000 34 89 0 0 1 0 0 CRYBA4 1413 broad.mit.edu 37 22 27019317 27019317 + Splice_Site SNP G G A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr22:27019317G>A ENST00000354760.3 + 3 193 c.e3+1 CRYBA4_ENST00000466315.1_Intron NM_001886.2 NP_001877.1 P53673 CRBA4_HUMAN crystallin, beta A4 camera-type eye development|visual perception soluble fraction structural constituent of eye lens large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2) 18 TGAGTGGAGCGTGAGTCTAGG 0.597000 14 52 0 0 1 0 0 IFT80 57560 broad.mit.edu 37 3 160099295 160099295 + Silent SNP A A G TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr3:160099295A>G ENST00000326448.7 - 3 687 c.255T>C c.(253-255)tcT>tcC p.S85S IFT80_ENST00000477495.1_5'UTR|IFT80_ENST00000483465.1_5'UTR|IFT80_ENST00000496589.1_5'UTR|RP11-432B6.3_ENST00000483754.1_Intron NM_020800.2 NP_065851.1 Q9P2H3 IFT80_HUMAN intraflagellar transport 80 homolog (Chlamydomonas) 85 cilium axoneme|microtubule basal body NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) ACTTACCATCAGAACTTGTGA 0.323000 23 148 0 0 1 0 0 AGPAT4 56895 broad.mit.edu 37 6 161575173 161575173 + Missense_Mutation SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr6:161575173C>T ENST00000366906.5 - 3 452 c.332G>A c.(331-333)aGg>aAg p.R111K AGPAT4_ENST00000366911.5_Intron|AGPAT4_ENST00000320285.4_Intron|AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000457520.2_Intron Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 173 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding p.?(1) endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2) 25 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) GCTCTGGTGCCTACATACAAA 0.582000 24 24 0 0 1 0 0 SLC9A3R1 9368 broad.mit.edu 37 17 72759610 72759610 + Silent SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr17:72759610C>T ENST00000262613.5 + 3 903 c.708C>T c.(706-708)gaC>gaT p.D236D SLC9A3R1_ENST00000413388.2_Silent_p.D80D NM_004252.4 NP_004243.1 O14745 NHRF1_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1 236 apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association large_intestine(4) 4 GGGAAACTGACGAGTTCTTCA 0.622000 5 13 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236735738 236735738 + Missense_Mutation SNP A A G TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr1:236735738A>G ENST00000366582.3 - 26 3794 c.3680T>C c.(3679-3681)gTg>gCg p.V1227A HEATR1_ENST00000366581.2_Missense_Mutation_p.V1146A NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1227 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AAGAGTTGGCACCAATATCTG 0.398000 9 144 0 0 1 0 0 HAS1 3036 broad.mit.edu 37 19 52222476 52222476 + Missense_Mutation SNP A A G TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr19:52222476A>G ENST00000540069.2 - 2 742 c.682T>C c.(682-684)Tcg>Ccg p.S228P HAS1_ENST00000222115.1_Missense_Mutation_p.S229P|HAS1_ENST00000601714.1_Missense_Mutation_p.S236P|HAS1_ENST00000594621.1_Missense_Mutation_p.S83P Q92839 HAS1_HUMAN hyaluronan synthase 1 229 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TAGTCCACCGAATCTCCGAGC 0.607000 9 65 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41568590 41568590 + Missense_Mutation SNP G G A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr22:41568590G>A ENST00000263253.7 + 28 5759 c.4540G>A c.(4540-4542)Gaa>Aaa p.E1514K RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1514 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CAATGTTCTGGAAGAAAGCAT 0.398000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 35 71 0 0 1 0 0 APBA3 9546 broad.mit.edu 37 19 3759729 3759729 + Silent SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr19:3759729C>T ENST00000316757.3 - 2 734 c.534G>A c.(532-534)acG>acA p.T178T NM_004886.3 NP_004877.1 O96018 APBA3_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 3 178 intracellular signal transduction|protein transport intracellular|membrane protein binding endometrium(1)|large_intestine(1)|skin(1) 3 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18) CTAGAGGCACCGTCTCCAGCC 0.647000 14 49 0 0 1 0 0 STXBP5 134957 broad.mit.edu 37 6 147685192 147685192 + Missense_Mutation SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr6:147685192C>T ENST00000367481.3 + 23 2971 c.2863C>T c.(2863-2865)Cgg>Tgg p.R955W STXBP5_ENST00000367480.3_Missense_Mutation_p.R938W|STXBP5_ENST00000321680.6_Missense_Mutation_p.R991W|STXBP5_ENST00000179882.6_Missense_Mutation_p.R646W NM_139244.4 NP_640337.3 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) 991 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding p.R955W(1)|p.R991W(1) breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) TACCAATATGCGGATAGCCAG 0.363000 5 245 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 42 0 0 1 0 0 MAP2K2 5605 broad.mit.edu 37 19 4117439 4117439 + Missense_Mutation SNP G G A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr19:4117439G>A ENST00000262948.5 - 2 534 c.281C>T c.(280-282)tCg>tTg p.S94L MAP2K2_ENST00000394867.4_5'UTR|MAP2K2_ENST00000599345.1_5'UTR NM_030662.3 NP_109587.1 P36507 MP2K2_HUMAN mitogen-activated protein kinase kinase 2 94 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|extracellular region ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GATGAGGCCCGAGGGTCTGTG 0.632000 12 28 0 0 1 0 0 CTNND1 1500 broad.mit.edu 37 11 57573390 57573390 + Missense_Mutation SNP T T C TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr11:57573390T>C ENST00000524630.1 + 10 2272 c.1759T>C c.(1759-1761)Tca>Cca p.S587P CTNND1_ENST00000532844.1_Missense_Mutation_p.S533P|CTNND1_ENST00000530094.1_Missense_Mutation_p.S486P|CTNND1_ENST00000529919.1_Missense_Mutation_p.S587P|CTNND1_ENST00000428599.2_Missense_Mutation_p.S587P|CTNND1_ENST00000534579.1_Missense_Mutation_p.S533P|CTNND1_ENST00000399050.4_Missense_Mutation_p.S587P|CTNND1_ENST00000526938.1_Missense_Mutation_p.S587P|CTNND1_ENST00000532787.1_Missense_Mutation_p.S486P|CTNND1_ENST00000528621.1_Missense_Mutation_p.S533P|CTNND1_ENST00000532649.1_Missense_Mutation_p.S533P|CTNND1_ENST00000426142.2_Missense_Mutation_p.S486P|CTNND1_ENST00000529986.1_Missense_Mutation_p.S486P|CTNND1_ENST00000527467.1_Missense_Mutation_p.S264P|CTNND1_ENST00000525902.1_Missense_Mutation_p.S264P|CTNND1_ENST00000532463.1_Missense_Mutation_p.S486P|CTNND1_ENST00000532245.1_Missense_Mutation_p.S486P|CTNND1_ENST00000531014.1_Missense_Mutation_p.S264P|CTNND1_ENST00000361796.4_Missense_Mutation_p.S587P|CTNND1_ENST00000399039.4_Missense_Mutation_p.S587P|CTNND1_ENST00000360682.6_Missense_Mutation_p.S587P|CTNND1_ENST00000358694.6_Missense_Mutation_p.S587P|CTNND1_ENST00000529526.1_Missense_Mutation_p.S533P|CTNND1_ENST00000528232.1_Missense_Mutation_p.S486P|CTNND1_ENST00000361391.6_Missense_Mutation_p.S587P|CTNND1_ENST00000529873.1_Missense_Mutation_p.S533P|CTNND1_ENST00000526357.1_Missense_Mutation_p.S533P|CTNND1_ENST00000530748.1_Missense_Mutation_p.S533P|CTNND1_ENST00000415361.2_Missense_Mutation_p.S486P|CTNND1_ENST00000361332.4_Missense_Mutation_p.S587P|CTNND1_ENST00000526772.1_Missense_Mutation_p.S264P|CTNND1_ENST00000533667.1_Missense_Mutation_p.S264P O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 587 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) TCGGAACTTATCATATCAAGT 0.463000 9 27 0 0 1 0 0 DDR2 4921 broad.mit.edu 37 1 162729614 162729614 + Missense_Mutation SNP G G A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr1:162729614G>A ENST00000367922.2 + 9 1138 c.700G>A c.(700-702)Gat>Aat p.D234N DDR2_ENST00000367921.3_Missense_Mutation_p.D234N NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 234 cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) CCAATTGACCGATGGTGTGTC 0.542000 23 78 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53358431 53358431 + Missense_Mutation SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr16:53358431C>T ENST00000566029.1 + 39 8479 c.8270C>T c.(8269-8271)tCt>tTt p.S2757F CHD9_ENST00000398510.3_Missense_Mutation_p.S2773F|CHD9_ENST00000447540.1_Missense_Mutation_p.S2758F|CHD9_ENST00000564845.1_Missense_Mutation_p.S2757F Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2773 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) GTGTCAAGTTCTCCTTCCACA 0.423000 9 35 0 0 1 0 0 MKRN3 7681 broad.mit.edu 37 15 23812077 23812077 + Missense_Mutation SNP A A G TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr15:23812077A>G ENST00000314520.3 + 1 1624 c.1148A>G c.(1147-1149)gAg>gGg p.E383G MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000564592.1_Missense_Mutation_p.E143G NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 383 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GAGGAGGAAGAGAAGCAGAAA 0.512000 25 67 0 0 1 0 0 FTH1P3 2498 broad.mit.edu 37 5 17354576 17354576 + RNA SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr5:17354576C>T ENST00000511821.1 + 0 435 FTH1P10_ENST00000401830.3_RNA GTGGTGACTGCGCAGTGCTGG 0.711000 5 9 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15760877 15760877 + Silent SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr10:15760877C>T ENST00000378076.3 - 2 584 c.231G>A c.(229-231)gcG>gcA p.A77A NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 77 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 TGGCTTTGGGCGCCCCCACCA 0.592000 22 84 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193120555 193120555 + Silent SNP T T C TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr3:193120555T>C ENST00000342695.4 - 30 3799 c.3477A>G c.(3475-3477)gcA>gcG p.A1159A ATP13A4_ENST00000392443.3_Silent_p.A1140A|ATP13A4_ENST00000400270.2_Silent_p.A175A|ATP13A4_ENST00000482964.1_5'UTR NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 1159 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TAGGGTCATTTGCCAAGTCCC 0.483000 33 138 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 5 196 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162841615 162841615 + Missense_Mutation SNP G G A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr4:162841615G>A ENST00000306100.5 - 4 786 c.350C>T c.(349-351)gCt>gTt p.A117V FSTL5_ENST00000536695.1_Missense_Mutation_p.A116V|FSTL5_ENST00000379164.4_Missense_Mutation_p.A116V|FSTL5_ENST00000427802.2_Missense_Mutation_p.A116V NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 117 Kazal-like. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CAGGCAAGCAGCTCTGTGCAC 0.418000 16 51 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141250225 141250225 + Missense_Mutation SNP C C G TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr2:141250225C>G ENST00000389484.3 - 57 10043 c.9072G>C c.(9070-9072)gaG>gaC p.E3024D NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3024 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTTTCCTTATCTCATGATGAT 0.348000 TSP Lung(27;0.18) 51 113 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34011718 34011718 + Missense_Mutation SNP C C A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr1:34011718C>A ENST00000373381.4 - 57 9195 c.9019G>T c.(9019-9021)Gct>Tct p.A3007S NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2980 Sushi 22. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACGTGGCCAGCTTCACAGCTG 0.602000 8 59 1.06961e-07 1.08686e-07 1 1 0 CNGA4 1262 broad.mit.edu 37 11 6261426 6261426 + Silent SNP G G A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr11:6261426G>A ENST00000379936.2 + 4 517 c.402G>A c.(400-402)ccG>ccA p.P134P CNGA4_ENST00000533426.1_Intron NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 134 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCTGGGCCCGCACACACCCA 0.617000 5 192 0 0 1 0 0 NAF1 92345 broad.mit.edu 37 4 164087806 164087806 + Missense_Mutation SNP T T C TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr4:164087806T>C ENST00000274054.2 - 1 267 c.74A>G c.(73-75)gAa>gGa p.E25G NAF1_ENST00000422287.2_Missense_Mutation_p.E25G NM_138386.2 NP_612395.2 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 ribonucleoprotein 25 rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2) 21 all_hematologic(180;0.166) Prostate(90;0.109) CGCCGGACCTTCCCCAACTCC 0.672000 8 27 0 0 1 0 0 ZC3H12A 80149 broad.mit.edu 37 1 37941403 37941403 + Silent SNP C C G TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr1:37941403C>G ENST00000373087.6 + 2 422 c.306C>G c.(304-306)ccC>ccG p.P102P NM_025079.2 NP_079355.2 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 102 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACCGGACCCCTGCCCTCAGC 0.662000 7 28 0 0 1 0 0 ZNF135 7694 broad.mit.edu 37 19 58579749 58579749 + Missense_Mutation SNP C C A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr19:58579749C>A ENST00000506786.1 + 5 2325 c.1771C>A c.(1771-1773)Cca>Aca p.P591T ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Missense_Mutation_p.P633T|ZNF135_ENST00000511556.1_Missense_Mutation_p.P645T|ZNF135_ENST00000313434.5_Missense_Mutation_p.P633T|ZNF135_ENST00000401053.4_Missense_Mutation_p.P657T B4DHH9 B4DHH9_HUMAN zinc finger protein 135 645 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) AGGAGAGAAGCCATATGCATG 0.547000 10 103 4.68919e-08 4.80356e-08 1 1 0 MKI67 4288 broad.mit.edu 37 10 129905282 129905282 + Missense_Mutation SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr10:129905282C>T ENST00000368654.3 - 13 5197 c.4822G>A c.(4822-4824)Gat>Aat p.D1608N MKI67_ENST00000368653.3_Missense_Mutation_p.D1248N NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1608 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GCAGTTTTATCGTTAGTCATT 0.502000 31 188 0 0 1 0 0 LHCGR 3973 broad.mit.edu 37 2 48914844 48914844 + Missense_Mutation SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr2:48914844C>T ENST00000294954.7 - 11 2113 c.2092G>A c.(2092-2094)Gag>Aag p.E698K LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.E636K|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.E671K|LHCGR_ENST00000403273.1_3'UTR NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 698 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) AGTTAACACTCTGTGTAGCGA 0.368000 23 88 0 0 1 0 0 ZBTB38 253461 broad.mit.edu 37 3 141164305 141164305 + Silent SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr3:141164305C>T ENST00000514251.1 + 4 3354 c.3075C>T c.(3073-3075)ctC>ctT p.L1025L ZBTB38_ENST00000441582.2_Silent_p.L1025L|ZBTB38_ENST00000321464.5_Silent_p.L1026L Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 1025 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 CTTCCACACTCAAAATGCACA 0.552000 7 85 0 0 1 0 0 ZC4H2 55906 broad.mit.edu 37 X 64141701 64141701 + Missense_Mutation SNP T T C TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chrX:64141701T>C ENST00000545618.1 - 3 769 c.206A>G c.(205-207)aAt>aGt p.N69S ZC4H2_ENST00000374839.3_Missense_Mutation_p.N74S|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000447788.2_Missense_Mutation_p.N74S|ZC4H2_ENST00000337990.2_Missense_Mutation_p.N51S Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 74 metal ion binding|protein binding endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 ACGTACCACATTGATGTCAGC 0.517000 5 27 0 0 1 0 0 ALPK1 80216 broad.mit.edu 37 4 113359744 113359744 + Missense_Mutation SNP G G A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr4:113359744G>A ENST00000458497.1 + 13 3572 c.3293G>A c.(3292-3294)aGa>aAa p.R1098K ALPK1_ENST00000177648.9_Missense_Mutation_p.R1098K|ALPK1_ENST00000504176.2_Missense_Mutation_p.R1020K NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 1098 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) TTTAACAAGAGACTCTATGAA 0.438000 25 99 0 0 1 0 0 EEA1 8411 broad.mit.edu 37 12 93175725 93175725 + Splice_Site SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr12:93175725C>T ENST00000322349.8 - 23 3601 c.e23+1 NM_003566.3 NP_003557.2 Q15075 EEA1_HUMAN early endosome antigen 1 early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 ACATGCAATACCTTTTCTTTC 0.388000 60 100 0 0 1 0 0 CD1D 912 broad.mit.edu 37 1 158152778 158152778 + Missense_Mutation SNP C C T rs139209490 by1000genomes TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr1:158152778C>T ENST00000368171.3 + 5 1217 c.718C>T c.(718-720)Cgg>Tgg p.R240W NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 240 Ig-like. antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) GAAGTGGATGCGGGGTGAGCA 0.632000 4 170 0 0 1 0 0 FAM86A 196483 broad.mit.edu 37 16 5135725 5135725 + Missense_Mutation SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr16:5135725C>T ENST00000427587.4 - 8 969 c.901G>A c.(901-903)Ggg>Agg p.G301R FAM86A_ENST00000458008.4_Missense_Mutation_p.G267R|FAM86A_ENST00000587133.1_Missense_Mutation_p.G240R|ALG1_ENST00000592661.1_Intron NM_201400.2 NP_958802.1 Q96G04 FA86A_HUMAN family with sequence similarity 86, member A 301 endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 12 CATCTGATCCCGGCCCGGCCT 0.562000 5 175 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 68040264 68040264 + Silent SNP T T C TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr10:68040264T>C ENST00000433211.1 - 13 2022 c.1848A>G c.(1846-1848)acA>acG p.T616T CTNNA3_ENST00000373744.4_Silent_p.T616T NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 616 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity p.T616T(2) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 TATCATGAATTGTATCATAGA 0.368000 35 81 0 0 1 0 0 RNF133 168433 broad.mit.edu 37 7 122338834 122338834 + Missense_Mutation SNP G G A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr7:122338834G>A ENST00000340112.2 - 1 376 c.139C>T c.(139-141)Cat>Tat p.H47Y CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 47 endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 TTCCCAACATGAAATGATATG 0.448000 14 141 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182374442 182374442 + Missense_Mutation SNP C C A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr2:182374442C>A ENST00000397033.2 + 16 2183 c.1753C>A c.(1753-1755)Cct>Act p.P585T NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 585 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) CCACCTTGGTCCTCATGTCAT 0.398000 33 106 2.47316e-13 2.64083e-13 1 1 0 LOC100294341 100294341 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 65 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100369721 100369721 + RNA DEL T T - TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr7:100369721delT ENST00000542585.1 + 0 5573 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ctctaaattcttttttttttt 0.532 2 4 --- --- --- --- LY6H 4062 broad.mit.edu 37 8 144240241 144240255 + In_Frame_Del DEL GGACACTGGCACACA GGACACTGGCACACA - rs151331428 TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr8:144240241_144240255delGGACACTGGCACACA ENST00000414417.2 - 4 448_462 c.215_229delTGTGTGCCAGTGTCC c.(214-231)gga>g p.VCASVR72del LY6H_ENST00000430474.2_In_Frame_Del_p.VCASVR51del|LY6H_ENST00000342752.4_In_Frame_Del_p.VCASVR72del NM_001130478.1 NP_001123950.1 O94772 LY6H_HUMAN lymphocyte antigen 6 complex, locus H 51 UPAR/Ly6. nervous system development|organ morphogenesis anchored to membrane|plasma membrane endometrium(1)|lung(1)|stomach(2) 4 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TCGGTGATTCGGACACTGGCACACACCGTGTCGGA 0.614 11 65 --- --- --- --- ZNF658 26149 broad.mit.edu 37 9 40789482 40789483 + Splice_Site INS - - A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr9:40789482_40789483insA ENST00000602553.1 - 2 94 c.e2-2 ZNF658_ENST00000377626.3_Intron|ZNF658_ENST00000441795.1_Splice_Site Q5TYW1 ZN658_HUMAN zinc finger protein 658 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TTCATGTGCCTAAAAAAAAAAA 0.426 2 4 --- --- --- --- TUBBP5 643224 broad.mit.edu 37 9 141069809 141069809 + RNA DEL T T - TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr9:141069809delT ENST00000503395.1 + 0 1023 CTCCCGTCTCTTGCAGTTCTG 0.662 2 4 --- --- --- --- TNKS1BP1 85456 broad.mit.edu 37 11 57070255 57070255 + Frame_Shift_Del DEL C C - TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr11:57070255delC ENST00000532437.1 - 6 4672 c.4361delG c.(4360-4362)gcfs p.G1454fs TNKS1BP1_ENST00000358252.3_Frame_Shift_Del_p.G1454fs Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1454 Acidic.|Tankyrase-binding. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) CTCCAGCAGGCCCTGGGAGCC 0.692 2 4 --- --- --- --- HERC2P9 440248 broad.mit.edu 37 15 28900331 28900332 + RNA DEL AA AA - TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr15:28900331_28900332delAA ENST00000528584.1 + 0 14 NR_036443.1 actctgtctcaaaaaaaaaaaa 0.411 2 4 --- --- --- --- CEACAM1 634 broad.mit.edu 37 19 43023198 43023199 + Frame_Shift_Ins INS - - T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr19:43023198_43023199insT ENST00000161559.6 - 5 1281_1282 c.1147_1148insA c.(1147-1149)aaafs p.K383fs CEACAM1_ENST00000308072.4_Intron|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000358394.3_Intron|CEACAM1_ENST00000403444.3_Frame_Shift_Ins_p.K383fs|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403461.1_Intron|CEACAM1_ENST00000351134.3_Intron|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000352591.5_Intron|CEACAM1_ENST00000599389.1_Intron NM_001712.4 NP_001703.2 P13688 CEAM1_HUMAN carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) 383 Ig-like C2-type 3. angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway extracellular region|integral to plasma membrane|membrane fraction breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 17 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) GACAGGGTTTATGCTGAGGGTG 0.510 42 133 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36688149 36688151 + In_Frame_Del DEL GTC GTC - rs34292387 byFrequency TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 641c6a0b-1cfe-4d61-8cf6-b14905efd9f0 63814ff0-1179-4d7a-a30d-068eeb8eb401 g.chr22:36688149_36688151delGTC ENST00000216181.5 - 31 4455_4457 c.4225_4227delGAC c.(4225-4227)del p.D1409del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1409 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TCTCCAGCTTGTCGTAGGCGGCC 0.640 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 10 107 --- --- --- ---