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 OPLAH 26873 broad.mit.edu 37 8 145111642 145111642 + Nonsense_Mutation SNP C C A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr8:145111642C>A ENST00000426825.1 - 13 1804 c.1723G>T c.(1723-1725)Gag>Tag p.E575* OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 575 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) AGGAAGCTCTCAGTGCTGATC 0.672000 3 43 1 1 1 1 0 RPS6KA6 27330 broad.mit.edu 37 X 83403065 83403065 + Missense_Mutation SNP T T C TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chrX:83403065T>C ENST00000262752.2 - 4 332 c.325A>G c.(325-327)Aaa>Gaa p.K109E RPS6KA6_ENST00000543399.1_Missense_Mutation_p.K109E NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 109 Protein kinase 1. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 AAAGAGGCTTTTTTTAACACC 0.299000 5 13 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 117033023 117033023 + Missense_Mutation SNP G G C TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr9:117033023G>C ENST00000356083.3 + 36 3962 c.3571G>C c.(3571-3573)Gag>Cag p.E1191Q COL27A1_ENST00000477421.2_3'UTR NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1191 Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 GCCAGGCCTTGAGGGTGACAG 0.612000 4 45 0 0 1 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89104958 89104958 + RNA SNP A A G TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr2:89104958A>G ENST00000393525.3 + 0 4898 AATTCAAATCATTGATTTCTG 0.289000 2 5 0 0 1 0 0 TFAP2B 7021 broad.mit.edu 37 6 50810922 50810922 + Silent SNP C C T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr6:50810922C>T ENST00000263046.4 + 8 1393 c.1227C>T c.(1225-1227)ctC>ctT p.L409L TFAP2B_ENST00000393655.3_Silent_p.L400L Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 400 QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) ACTTCAGCCTCATCACGCACG 0.632000 15 82 0 0 1 0 0 PRRX1 5396 broad.mit.edu 37 1 170633563 170633563 + Silent SNP G G C TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr1:170633563G>C ENST00000239461.6 + 1 517 c.204G>C c.(202-204)ccG>ccC p.P68P PRRX1_ENST00000497230.2_Silent_p.P68P|PRRX1_ENST00000367760.3_Silent_p.P68P NM_022716.2 NP_073207.1 P54821 PRRX1_HUMAN paired related homeobox 1 68 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGGAGTCGCCGGGACTCACCA 0.706000 5 10 0 0 1 0 0 LILRA5 353514 broad.mit.edu 37 19 54823368 54823368 + Missense_Mutation SNP G G A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr19:54823368G>A ENST00000301219.3 - 4 294 c.175C>T c.(175-177)Cgg>Tgg p.R59W LILRA5_ENST00000432233.3_Missense_Mutation_p.R59W|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Missense_Mutation_p.R47W|LILRA5_ENST00000446712.3_Missense_Mutation_p.R47W NM_021250.2 NP_067073.1 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 59 Ig-like C2-type 1. innate immune response extracellular region|integral to membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GAGTTCCCCCGGCTGATCACA 0.607000 11 62 0 0 1 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820674 35820674 + Missense_Mutation SNP G G T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chrX:35820674G>T ENST00000399989.1 + 2 640 c.361G>T c.(361-363)Gtg>Ttg p.V121L MAGEB16_ENST00000399988.1_Missense_Mutation_p.V121L|MAGEB16_ENST00000399985.1_Missense_Mutation_p.V121L|MAGEB16_ENST00000399987.1_Missense_Mutation_p.V121L|MAGEB16_ENST00000399992.1_Missense_Mutation_p.V153L NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 121 MAGE. breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GGCTTTTTTGGTGAATTTCAT 0.438000 7 18 1.58986e-06 1.82743e-06 1 1 0 SLC26A3 1811 broad.mit.edu 37 7 107431530 107431530 + Missense_Mutation SNP G G A rs143515876 TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr7:107431530G>A ENST00000340010.5 - 5 717 c.533C>T c.(532-534)gCg>gTg p.A178V SLC26A3_ENST00000422236.2_Missense_Mutation_p.A143V NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 178 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 TGATGCCGCCGCCGCCACCCT 0.483000 3 46 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55224535 55224535 + RNA SNP C C A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr19:55224535C>A ENST00000413439.1 + 0 1769 GGTGGACATCCAGGGGTCCCG 0.592000 6 24 3.59834e-05 3.99815e-05 1 1 0 ANKRD30A 91074 broad.mit.edu 37 10 37430735 37430735 + Missense_Mutation SNP G G T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr10:37430735G>T ENST00000374660.1 + 7 841 c.742G>T c.(742-744)Gat>Tat p.D248Y ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D248Y|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D248Y Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 304 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AAAAACACCTGATGAGGCTGC 0.517000 7 40 2.7689e-08 3.25752e-08 1 1 0 KIAA0556 23247 broad.mit.edu 37 16 27782971 27782971 + Missense_Mutation SNP G G A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr16:27782971G>A ENST00000261588.4 + 22 4215 c.4196G>A c.(4195-4197)gGc>gAc p.G1399D NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 1399 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 ATGCCCTGTGGCTGTATCCTT 0.612000 10 71 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50985713 50985713 + Silent SNP A A T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr18:50985713A>T ENST00000442544.2 + 24 4120 c.3504A>T c.(3502-3504)ccA>ccT p.P1168P DCC_ENST00000581580.1_Silent_p.P803P NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1168 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TTGAAAAGCCATCTGGCACTG 0.517000 23 140 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51165512 51165512 + Missense_Mutation SNP C C A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr19:51165512C>A ENST00000293441.1 - 23 6214 c.6196G>T c.(6196-6198)Ggg>Tgg p.G2066W SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.G2074W|SHANK1_ENST00000391813.1_Missense_Mutation_p.G1453W|SHANK1_ENST00000359082.3_Missense_Mutation_p.G2057W NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 2066 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) AAGGCTCCCCCGAGCCCCCCG 0.687000 3 16 0.150653 0.152175 1 1 0 VPS18 57617 broad.mit.edu 37 15 41188228 41188228 + Missense_Mutation SNP G G A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr15:41188228G>A ENST00000220509.5 + 2 523 c.184G>A c.(184-186)Gtc>Atc p.V62I VPS18_ENST00000558474.1_Missense_Mutation_p.V62I NM_020857.2 NP_065908.1 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 homolog (S. cerevisiae) 62 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) CAGTCTTGTCGTCTCCAGCAA 0.532000 26 200 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47697526 47697526 + Silent SNP G G C TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr21:47697526G>C ENST00000397708.1 - 6 2027 c.1773C>G c.(1771-1773)tcC>tcG p.S591S MCM3AP_ENST00000291688.1_Silent_p.S591S O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 591 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) GGGTACTGAGGGAGAGCACAC 0.567000 17 97 0 0 1 0 0 PUS7L 83448 broad.mit.edu 37 12 44132173 44132173 + Missense_Mutation SNP G G C TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr12:44132173G>C ENST00000416848.2 - 6 1872 c.1384C>G c.(1384-1386)Ctt>Gtt p.L462V PUS7L_ENST00000344862.5_Missense_Mutation_p.L462V|PUS7L_ENST00000431332.3_Missense_Mutation_p.L149V|PUS7L_ENST00000551923.1_Missense_Mutation_p.L462V NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 462 TRUD. pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) TCTGGTGTAAGAAACAATTTT 0.299000 14 47 0 0 1 0 0 FAM74A3 728495 broad.mit.edu 37 9 40716192 40716192 + RNA SNP T T A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr9:40716192T>A ENST00000604146.1 + 0 531 NR_026801.1 endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) CAAGAAGATGTGGAGAGAGTT 0.458000 8 86 0 0 1 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24942523 24942523 + Silent SNP C C T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr16:24942523C>T ENST00000289968.6 - 19 2166 c.2097G>A c.(2095-2097)cgG>cgA p.R699R ARHGAP17_ENST00000303665.5_Silent_p.R621R|ARHGAP17_ENST00000441763.2_3'UTR NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 699 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) TGGAGTACCTCCGGGGTGCTG 0.667000 17 168 0 0 1 0 0 NEK8 284086 broad.mit.edu 37 17 27067963 27067963 + Silent SNP G G A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr17:27067963G>A ENST00000268766.6 + 12 1726 c.1692G>A c.(1690-1692)ctG>ctA p.L564L AC010761.6_ENST00000584779.1_RNA NM_178170.2 NP_835464.1 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 564 cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Lung NSC(42;0.0158) AGCCTCTGCTGAGTATAGACC 0.622000 5 23 0 0 1 0 0 PTPN7 5778 broad.mit.edu 37 1 202121776 202121776 + Missense_Mutation SNP C C A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr1:202121776C>A ENST00000309017.3 - 8 1857 c.1084G>T c.(1084-1086)Gac>Tac p.D362Y PTPN7_ENST00000308986.5_Missense_Mutation_p.D257Y|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000544762.1_Missense_Mutation_p.D33Y|PTPN7_ENST00000543735.1_Missense_Mutation_p.D86Y|PTPN7_ENST00000367279.4_Missense_Mutation_p.D296Y NM_001199797.1|NM_002832.3 NP_001186726.1|NP_002823.3 P35236 PTN7_HUMAN protein tyrosine phosphatase, non-receptor type 7 257 cytosol|internal side of plasma membrane protein binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1) 13 GTCTGATGGTCTGGCCAGGCC 0.617000 7 95 2.17888e-05 2.476e-05 1 1 0 XKRX 402415 broad.mit.edu 37 X 100169411 100169411 + Silent SNP A A G TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chrX:100169411A>G ENST00000328526.5 - 3 1870 c.1305T>C c.(1303-1305)tgT>tgC p.C435C XKRX_ENST00000372956.2_Silent_p.C422C|XKRX_ENST00000468904.1_3'UTR NM_212559.2 NP_997724.2 Q6PP77 XKR2_HUMAN XK, Kell blood group complex subunit-related, X-linked 422 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3) 22 GACAGCAGACACAATGGAGGT 0.468000 28 80 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7015760 7015760 + Missense_Mutation SNP C C A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr18:7015760C>A ENST00000389658.3 - 22 3180 c.3087G>T c.(3085-3087)gaG>gaT p.E1029D NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1029 Laminin EGF-like 11. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGTGCCCATCCTCACATTCTT 0.557000 20 141 2.89027e-11 3.52472e-11 1 1 0 IGDCC4 57722 broad.mit.edu 37 15 65703463 65703463 + Missense_Mutation SNP C C T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr15:65703463C>T ENST00000352385.2 - 2 525 c.316G>A c.(316-318)Gag>Aag p.E106K NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 106 Ig-like C2-type 1. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 GGGACTGACTCGTCACTGCCA 0.617000 7 50 0 0 1 0 0 CENPJ 55835 broad.mit.edu 37 13 25479993 25479993 + Missense_Mutation SNP C C G TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr13:25479993C>G ENST00000381884.4 - 7 2368 c.2183G>C c.(2182-2184)aGa>aCa p.R728T CENPJ_ENST00000545981.1_Missense_Mutation_p.R728T NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 728 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) GCTATCCTCTCTGCTGCTGAT 0.453000 20 124 0 0 1 0 0 TARBP1 6894 broad.mit.edu 37 1 234563084 234563084 + Missense_Mutation SNP G G A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr1:234563084G>A ENST00000040877.1 - 19 3301 c.3302C>T c.(3301-3303)gCg>gTg p.A1101V NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 1101 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) AATATTTGCCGCACAGTCATG 0.299000 3 54 0 0 1 0 0 INHBA 3624 broad.mit.edu 37 7 41729713 41729713 + Silent SNP C C T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr7:41729713C>T ENST00000242208.4 - 3 1062 c.816G>A c.(814-816)aaG>aaA p.K272K INHBA_ENST00000442711.1_Silent_p.K272K|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 272 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 cacctccgcccttctttttcc 0.577000 TSP Lung(11;0.080) 3 30 0 0 1 0 0 APEX2 27301 broad.mit.edu 37 X 55033574 55033574 + Silent SNP C C G TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chrX:55033574C>G ENST00000374987.3 + 6 1329 c.1263C>G c.(1261-1263)ctC>ctG p.L421L NM_014481.2 NP_055296.2 Q9UBZ4 APEX2_HUMAN APEX nuclease (apurinic/apyrimidinic endonuclease) 2 421 cell cycle|DNA recombination|DNA repair nucleus DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1) 21 TGAGCGCCCTCATGACCCCGA 0.552000 Other BER factors 7 11 0 0 1 0 0 CHODL 140578 broad.mit.edu 37 21 19632535 19632535 + Missense_Mutation SNP C C T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr21:19632535C>T ENST00000299295.2 + 4 957 c.566C>T c.(565-567)cCt>cTt p.P189L CHODL_ENST00000400135.1_Missense_Mutation_p.P148L|CHODL_ENST00000543733.1_Missense_Mutation_p.P170L|CHODL_ENST00000400127.1_Missense_Mutation_p.P148L|CHODL_ENST00000400128.1_Missense_Mutation_p.P148L|CHODL_ENST00000338326.3_Missense_Mutation_p.P148L|CHODL_ENST00000400131.1_Missense_Mutation_p.P148L NM_001204175.1|NM_024944.2 NP_001191104.1|NP_079220.2 Q9H9P2 CHODL_HUMAN chondrolectin 189 muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) CCAACAGCCCCTGTAGAAAAG 0.299000 13 96 0 0 1 0 0 EPB41 2035 broad.mit.edu 37 1 29320026 29320026 + Missense_Mutation SNP A A G TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr1:29320026A>G ENST00000343067.4 + 3 780 c.653A>G c.(652-654)gAt>gGt p.D218G EPB41_ENST00000398863.2_Missense_Mutation_p.D218G|EPB41_ENST00000373797.1_Missense_Mutation_p.D218G|EPB41_ENST00000373798.1_Missense_Mutation_p.D218G|EPB41_ENST00000373800.3_Missense_Mutation_p.D9G|EPB41_ENST00000356093.2_Missense_Mutation_p.D218G|EPB41_ENST00000349460.4_Missense_Mutation_p.D9G|EPB41_ENST00000347529.3_Missense_Mutation_p.D218G NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 218 FERM. blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) TCTTTGTTGGATGACACAGTT 0.383000 9 77 0 0 1 0 0 LHCGR 3973 broad.mit.edu 37 2 48925883 48925883 + Missense_Mutation SNP T T G TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr2:48925883T>G ENST00000294954.7 - 9 758 c.737A>C c.(736-738)cAg>cCg p.Q246P STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.Q246P|LHCGR_ENST00000403273.1_Missense_Mutation_p.Q246P|LHCGR_ENST00000344775.3_Intron|LHCGR_ENST00000401907.1_Missense_Mutation_p.Q246P NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 246 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) AATTAGCCTCTGAATGGACTC 0.423000 10 56 0 0 1 0 0 ZNF730 100129543 broad.mit.edu 37 19 23329199 23329199 + Silent SNP C C A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr19:23329199C>A ENST00000597761.2 + 4 1552 c.1353C>A c.(1351-1353)ccC>ccA p.P451P NM_001277403.1 NP_001264332.1 zinc finger protein 730 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1) 16 GAGAGAAACCCTATGAATGTG 0.383000 7 52 0.000157383 0.000171069 1 1 0 MAP6 4135 broad.mit.edu 37 11 75319192 75319192 + Missense_Mutation SNP G G A rs148736062 TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr11:75319192G>A ENST00000434603.2 - 2 1145 c.1081C>T c.(1081-1083)Cgc>Tgc p.R361C MAP6_ENST00000526740.1_Missense_Mutation_p.R32C|MAP6_ENST00000304771.3_Missense_Mutation_p.R361C NM_207577.1 NP_997460.1 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 361 Calmodulin-binding (By similarity). Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 19 Ovarian(111;0.11) TAGAGGCTGCGTATTCTTCTG 0.507000 6 60 0 0 1 0 0 SLC40A1 30061 broad.mit.edu 37 2 190437623 190437623 + Missense_Mutation SNP C C T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr2:190437623C>T ENST00000261024.2 - 4 762 c.336G>A c.(334-336)atG>atA p.M112I NM_014585.5 NP_055400.1 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated transporter), member 1 112 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) GTAAGAAAACCATCATCAGGA 0.428000 13 65 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147914546 147914546 + Missense_Mutation SNP G G T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr7:147914546G>T ENST00000361727.3 + 19 3693 c.3177G>T c.(3175-3177)aaG>aaT p.K1059N CNTNAP2_ENST00000538075.1_Missense_Mutation_p.K118N NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1059 Laminin G-like 4. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GCACCACCAAGGCGCCCTGCA 0.582000 HNSCC(39;0.1) 14 104 1.02788e-11 1.26899e-11 1 1 0 PRPF4 9128 broad.mit.edu 37 9 116053823 116053823 + Silent SNP G G A rs61737726 byFrequency TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr9:116053823G>A ENST00000374199.4 + 14 1850 c.1449G>A c.(1447-1449)ccG>ccA p.P483P PRPF4_ENST00000374198.4_Silent_p.P484P O43172 PRP4_HUMAN pre-mRNA processing factor 4 484 Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP protein binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 23 GCTGGTCCCCGCTGAAGACTC 0.522000 8 82 0 0 1 0 0 MOCOS 55034 broad.mit.edu 37 18 33778703 33778703 + Nonsense_Mutation SNP G G T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr18:33778703G>T ENST00000261326.5 + 3 304 c.283G>T c.(283-285)Gag>Tag p.E95* NM_017947.2 NP_060417.2 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 95 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Pyridoxal Phosphate(DB00114) TGACACTGTGGAGCAGGTGCG 0.537000 11 103 8.60227e-14 1.07528e-13 1 1 0 PRDX2 7001 broad.mit.edu 37 19 12911052 12911052 + Missense_Mutation SNP C C T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr19:12911052C>T ENST00000301522.2 - 4 447 c.319G>A c.(319-321)Gtg>Atg p.V107M CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000334482.5_Missense_Mutation_p.V107M NM_005809.4 NP_005800.3 P32119 PRDX2_HUMAN peroxiredoxin 2 107 Thioredoxin. anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals thioredoxin peroxidase activity endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 CGTCTGGTCACGTCAGCAAGC 0.622000 13 110 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62019102 62019102 + Missense_Mutation SNP C C T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr17:62019102C>T ENST00000578147.1 - 24 4616 c.4540G>A c.(4540-4542)Gat>Aat p.D1514N SCN4A_ENST00000435607.1_Missense_Mutation_p.D1514N P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1514 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) AACATATCATCGATGCCCGAC 0.547000 8 88 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 240979631 240979631 + Missense_Mutation SNP C C G TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr1:240979631C>G ENST00000366565.1 - 11 1150 c.769G>C c.(769-771)Gag>Cag p.E257Q RGS7_ENST00000366563.1_Missense_Mutation_p.E257Q|RGS7_ENST00000446183.2_Missense_Mutation_p.E173Q|RGS7_ENST00000401882.1_Missense_Mutation_p.E204Q|RGS7_ENST00000366564.1_Missense_Mutation_p.E257Q|RGS7_ENST00000366562.4_Missense_Mutation_p.E257Q|RGS7_ENST00000348120.2_Missense_Mutation_p.E204Q|RGS7_ENST00000407727.1_Missense_Mutation_p.E257Q|RGS7_ENST00000331110.7_Missense_Mutation_p.E231Q NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 257 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TGTTGTAACTCATCTTCTGTT 0.363000 23 258 0 0 1 0 0 RGS3 5998 broad.mit.edu 37 9 116268695 116268695 + Missense_Mutation SNP A A T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr9:116268695A>T ENST00000374140.2 + 13 1216 c.1007A>T c.(1006-1008)cAg>cTg p.Q336L RGS3_ENST00000374136.1_5'UTR|RGS3_ENST00000350696.5_Missense_Mutation_p.Q336L|RGS3_ENST00000343817.5_Missense_Mutation_p.Q55L|RGS3_ENST00000317613.6_Missense_Mutation_p.Q224L|RGS3_ENST00000394646.3_Missense_Mutation_p.Q55L NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 336 PDZ. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 GCAGGGCTGCAGCAGCTGGAC 0.622000 3 3 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40321564 40321564 + Silent SNP C C A rs148380980 byFrequency TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr17:40321564C>A ENST00000264661.3 - 9 1853 c.1521G>T c.(1519-1521)ccG>ccT p.P507P KCNH4_ENST00000607371.1_Silent_p.P507P NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 507 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GCTGCTTGAGCGGCCGCGGCA 0.622000 10 61 2.80697e-09 3.34164e-09 1 1 0 TF 7018 broad.mit.edu 37 3 133467289 133467289 + Missense_Mutation SNP G G C TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr3:133467289G>C ENST00000402696.3 + 2 562 c.77G>C c.(76-78)aGa>aCa p.R26T TF_ENST00000475382.1_3'UTR|TFP1_ENST00000460564.1_RNA|TF_ENST00000264998.3_Intron NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 26 Transferrin-like 1. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) AAAACTGTGAGATGGTGTGCA 0.572000 6 70 0 0 1 0 0 HDHD1 8226 broad.mit.edu 37 X 7023808 7023808 + Missense_Mutation SNP C C A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chrX:7023808C>A ENST00000381077.5 - 2 209 c.133G>T c.(133-135)Gta>Tta p.V45L HDHD1_ENST00000540122.1_Missense_Mutation_p.V45L|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000412827.2_Missense_Mutation_p.V45L|HDHD1_ENST00000424830.2_Missense_Mutation_p.V68L NM_001178136.1|NM_012080.4 NP_001171607.1|NP_036212.3 Q08623 HDHD1_HUMAN haloacid dehalogenase-like hydrolase domain containing 1 45 nucleotide metabolic process metal ion binding|phosphatase activity breast(2)|large_intestine(1)|lung(3) 6 AGGGACTTTACATCCCAGCTG 0.418000 3 9 0.000602214 0.000647542 1 1 0 PKD1L1 168507 broad.mit.edu 37 7 47832227 47832227 + Missense_Mutation SNP C C T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr7:47832227C>T ENST00000289672.2 - 56 8574 c.8524G>A c.(8524-8526)Gag>Aag p.E2842K NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2842 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GGTCTTACCTCAGCAGCTTGG 0.388000 15 107 0 0 1 0 0 RIT2 6014 broad.mit.edu 37 18 40695402 40695402 + Missense_Mutation SNP G G C TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr18:40695402G>C ENST00000589109.1 - 1 254 c.83C>G c.(82-84)gCa>gGa p.A28G RIT2_ENST00000282028.4_Missense_Mutation_p.A28G|RIT2_ENST00000590910.1_Missense_Mutation_p.A28G|RIT2_ENST00000326695.5_Missense_Mutation_p.A28G NM_001272077.1 NP_001259006.1 Q99578 RIT2_HUMAN Ras-like without CAAX 2 28 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AACTCCCCCTGCTCCCAGCAT 0.517000 33 204 0 0 1 0 0 ZNF695 57116 broad.mit.edu 37 1 247150277 247150277 + Missense_Mutation SNP G G C TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr1:247150277G>C ENST00000339986.7 - 4 1687 c.1540C>G c.(1540-1542)Cat>Gat p.H514D ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron NM_020394.4 NP_065127.4 Q8IW36 ZN695_HUMAN zinc finger protein 695 514 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-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) TCTCAGGTATGAGTTTTCTCA 0.353000 4 49 0 0 1 0 0 ZNF10 7556 broad.mit.edu 37 12 133732425 133732425 + Missense_Mutation SNP A A T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr12:133732425A>T ENST00000248211.6 + 5 815 c.593A>T c.(592-594)gAt>gTt p.D198V ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Intron|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.D198V NM_015394.4 NP_056209.2 P21506 ZNF10_HUMAN zinc finger protein 10 198 Missing (in Ref. 1). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) TTAAAACATGATTTAGTTCTT 0.363000 4 82 0 0 1 0 0 SYNPO2L 79933 broad.mit.edu 37 10 75406952 75406952 + Missense_Mutation SNP A A G TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr10:75406952A>G ENST00000394810.2 - 4 2607 c.2458T>C c.(2458-2460)Ttt>Ctt p.F820L SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.F596L NM_001114133.1 NP_001107605.1 Q9H987 SYP2L_HUMAN synaptopodin 2-like 820 Pro-rich. cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) TGGGGGAAAAAGGGAGAGAGC 0.577000 3 107 0 0 1 0 0 TMEM130 222865 broad.mit.edu 37 7 98457809 98457809 + Missense_Mutation SNP C C A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr7:98457809C>A ENST00000450876.1 - 3 1607 c.292G>T c.(292-294)Ggg>Tgg p.G98W TMEM130_ENST00000546258.1_Missense_Mutation_p.G163W|TMEM130_ENST00000339375.4_Missense_Mutation_p.G182W|TMEM130_ENST00000345589.4_Missense_Mutation_p.G80W|TMEM130_ENST00000416379.2_Missense_Mutation_p.G182W Q8N3G9 TM130_HUMAN transmembrane protein 130 182 Golgi membrane|integral to membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TACCCGTCCCCGAAGTCCCAG 0.577000 5 27 3.59834e-05 3.99815e-05 1 1 0 TCHHL1 126637 broad.mit.edu 37 1 152058585 152058585 + Missense_Mutation SNP C C G TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr1:152058585C>G ENST00000368806.1 - 3 1637 c.1573G>C c.(1573-1575)Gag>Cag p.E525Q NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 525 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TCCTCCTCCTCAACTGGTTGG 0.512000 15 149 0 0 1 0 0 GLYAT 10249 broad.mit.edu 37 11 58482800 58482800 + Missense_Mutation SNP G G A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr11:58482800G>A ENST00000344743.3 - 3 319 c.178C>T c.(178-180)Cct>Tct p.P60S GLYAT_ENST00000529732.1_Missense_Mutation_p.P60S|GLYAT_ENST00000278400.3_Missense_Mutation_p.P60S NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 60 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) TGCTCCTGAGGGCAGACAACC 0.413000 8 57 0 0 1 0 0 CDT1 81620 broad.mit.edu 37 16 88873493 88873493 + Missense_Mutation SNP C C T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr16:88873493C>T ENST00000301019.4 + 8 1776 c.1157C>T c.(1156-1158)tCt>tTt p.S386F NM_030928.3 NP_112190.2 Q9H211 CDT1_HUMAN chromatin licensing and DNA replication factor 1 386 DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(80;0.0476) GCCCTGCGCTCTGCTGCGCCC 0.672000 7 70 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164908384 164908384 + Missense_Mutation SNP G G C TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr3:164908384G>C ENST00000475390.1 - 2 678 c.235C>G c.(235-237)Cct>Gct p.P79A SLITRK3_ENST00000241274.3_Missense_Mutation_p.P79A O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 79 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 AGTTTAAAAGGTCTTGACCAG 0.338000 HNSCC(40;0.11) 6 67 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39695678 39695678 + Silent SNP G G A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr8:39695678G>A ENST00000265708.4 - 1 130 c.27C>T c.(25-27)agC>agT p.S9S ADAM2_ENST00000521880.1_Silent_p.S9S|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000347580.4_Silent_p.S9S|ADAM2_ENST00000379853.2_Silent_p.S9S NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 9 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CGCCGAGCCCGCTGAGCAGAA 0.577000 4 45 0 0 1 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49967907 49967907 + Missense_Mutation SNP C C T rs138995716 byFrequency TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr19:49967907C>T ENST00000293350.4 + 12 1619 c.1456C>T c.(1456-1458)Cgg>Tgg p.R486W ALDH16A1_ENST00000433981.2_Missense_Mutation_p.R321W|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.R435W|CTD-3148I10.9_ENST00000599536.1_3'UTR|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.R323W NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 486 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) TGAGTATCTGCGGCCCTCAGG 0.657000 5 199 0 0 1 0 0 ALS2 57679 broad.mit.edu 37 2 202589172 202589172 + Missense_Mutation SNP C C A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr2:202589172C>A ENST00000264276.6 - 21 3730 c.3358G>T c.(3358-3360)Ggt>Tgt p.G1120C ALS2_ENST00000457679.2_Missense_Mutation_p.G432C NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 1120 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 AATACTTCACCAGAAGCATAG 0.378000 19 151 2.98393e-07 3.46969e-07 1 1 0 LAMB1 3912 broad.mit.edu 37 7 107580787 107580787 + Silent SNP G G T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr7:107580787G>T ENST00000393561.1 - 23 3664 c.3480C>A c.(3478-3480)ccC>ccA p.P1160P LAMB1_ENST00000222399.6_Silent_p.P1136P P07942 LAMB1_HUMAN laminin, beta 1 1136 Laminin EGF-like 13. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAATGCCCCTGGGGTCACAGT 0.522000 3 45 0.004672 0.00481649 1 1 0 SPZ1 84654 broad.mit.edu 37 5 79616461 79616461 + Missense_Mutation SNP G G C TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr5:79616461G>C ENST00000296739.4 + 1 672 c.427G>C c.(427-429)Gag>Cag p.E143Q NM_032567.3 NP_115956.3 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2) 26 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) AAAGAAACAGGAGATGATATT 0.358000 3 83 0 0 1 0 0 LIN28A 79727 broad.mit.edu 37 1 26751900 26751900 + Missense_Mutation SNP C C T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr1:26751900C>T ENST00000326279.6 + 3 449 c.335C>T c.(334-336)cCt>cTt p.P112L LIN28A_ENST00000254231.4_Missense_Mutation_p.P112L NM_024674.4 NP_078950.1 Q9H9Z2 LN28A_HUMAN lin-28 homolog A (C. elegans) 112 CSD. miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance cytoplasmic mRNA processing body|nucleolus|stress granule DNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2) 8 GTCACCGGACCTGGTGGAGTA 0.527000 15 179 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117431743 117431743 + Nonsense_Mutation SNP G G A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr7:117431743G>A ENST00000160373.3 - 4 1598 c.1507C>T c.(1507-1509)Caa>Taa p.Q503* NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 503 Pro-rich. breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GCACCTGCTTGAGGGCTTGTA 0.542000 19 134 0 0 1 0 0 GNB5 10681 broad.mit.edu 37 15 52446250 52446250 + Missense_Mutation SNP C C G TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr15:52446250C>G ENST00000261837.7 - 4 327 c.262G>C c.(262-264)Gag>Cag p.E88Q GNB5_ENST00000358784.7_Missense_Mutation_p.E46Q|GNB5_ENST00000560116.1_Missense_Mutation_p.E46Q|GNB5_ENST00000396335.4_Missense_Mutation_p.E46Q NM_016194.3 NP_057278.2 O14775 GBB5_HUMAN guanine nucleotide binding protein (G protein), beta 5 88 heterotrimeric G-protein complex GTPase activity|signal transducer activity large_intestine(1)|lung(1) 2 all cancers(107;0.0163) CCCAGGGCCTCCACCCGCTCC 0.562000 4 31 0 0 1 0 0 ASGR2 433 broad.mit.edu 37 17 7004980 7004980 + Missense_Mutation SNP C C T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr17:7004980C>T ENST00000380952.2 - 9 1114 c.850G>A c.(850-852)Gat>Aat p.D284N ASGR2_ENST00000254850.7_Missense_Mutation_p.D260N|ASGR2_ENST00000355035.5_Missense_Mutation_p.D284N|ASGR2_ENST00000446679.2_Missense_Mutation_p.D265N NM_001181.4|NM_001201352.1|NM_080912.3 NP_001172.1|NP_001188281.1|NP_550434.1 P07307 ASGR2_HUMAN asialoglycoprotein receptor 2 284 C-type lectin. cell surface receptor linked signaling pathway|endocytosis focal adhesion|integral to membrane|nucleolus asialoglycoprotein receptor activity|protein binding|sugar binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4) 18 Antihemophilic Factor(DB00025) CAGCGGCCATCCGGCTGGACT 0.587000 11 64 0 0 1 0 0 C7orf10 79783 broad.mit.edu 37 7 40220549 40220549 + Missense_Mutation SNP T T A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr7:40220549T>A ENST00000309930.5 + 2 149 c.125T>A c.(124-126)aTg>aAg p.M42K C7orf10_ENST00000540834.1_Missense_Mutation_p.M35K|C7orf10_ENST00000401647.2_Missense_Mutation_p.M42K|C7orf10_ENST00000335693.4_Missense_Mutation_p.M42K NM_001193311.1|NM_024728.2 NP_001180240.1|NP_079004.1 Q9HAC7 CG010_HUMAN chromosome 7 open reading frame 10 42 transferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 TTGCCAGATATGAACAATATA 0.323000 23 159 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 4 55 0 0 1 0 0 ALDH18A1 5832 broad.mit.edu 37 10 97397180 97397180 + Missense_Mutation SNP T T C TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr10:97397180T>C ENST00000371224.2 - 4 454 c.317A>G c.(316-318)cAg>cGg p.Q106R ALDH18A1_ENST00000371221.3_Missense_Mutation_p.Q106R|ALDH18A1_ENST00000483788.1_5'UTR NM_002860.3 NP_002851.2 P54886 P5CS_HUMAN aldehyde dehydrogenase 18 family, member A1 106 Glutamate 5-kinase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) GCCCTGATTCTGCAGCACTGA 0.532000 5 48 0 0 1 0 0 NFATC3 4775 broad.mit.edu 37 16 68260325 68260325 + Missense_Mutation SNP C C T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr16:68260325C>T ENST00000346183.3 + 10 3203 c.3179C>T c.(3178-3180)cCc>cTc p.P1060L NFATC3_ENST00000535127.2_3'UTR|RP11-96D1.10_ENST00000571975.1_RNA|RP11-96D1.11_ENST00000571197.1_RNA|NFATC3_ENST00000349223.5_3'UTR|NFATC3_ENST00000329524.4_3'UTR NM_173165.2 NP_775188.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 1060 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) AGGCAGGCTCCCCTCCCGAGT 0.502000 5 78 0 0 1 0 0 STK19 8859 broad.mit.edu 37 6 31940149 31940149 + Silent SNP C C G TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr6:31940149C>G ENST00000375331.2 + 2 457 c.291C>G c.(289-291)ctC>ctG p.L97L STK19_ENST00000375333.2_Silent_p.L97L NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 97 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 TCTCTTCCCTCCATTCCTACC 0.577000 8 77 0 0 1 0 0 NAPEPLD 222236 broad.mit.edu 37 7 102760405 102760405 + Missense_Mutation SNP T T C TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr7:102760405T>C ENST00000417955.1 - 3 714 c.560A>G c.(559-561)cAc>cGc p.H187R NAPEPLD_ENST00000427257.1_Missense_Mutation_p.H187R|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.H187R|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.H260R|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.H187R Q6IQ20 NAPEP_HUMAN N-acyl phosphatidylethanolamine phospholipase D 187 phospholipid catabolic process membrane metal ion binding endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 ATGGTCATAGTGGTTGTGACT 0.468000 29 210 0 0 1 0 0 PDE4D 5144 broad.mit.edu 37 5 59284315 59284315 + Splice_Site SNP C C T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr5:59284315C>T ENST00000502484.2 - 3 495 c.272_splice c.e3+1 p.G91_splice PDE4D_ENST00000546160.1_Splice_Site_p.G91_splice NM_001165899.1 NP_001159371.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 0 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) GGGCACTCACCCACTGGATTC 0.443000 4 31 0 0 1 0 0 DDX3X 1654 broad.mit.edu 37 X 41206647 41206647 + Missense_Mutation SNP G G A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chrX:41206647G>A ENST00000399959.2 + 16 2707 c.1852G>A c.(1852-1854)Gca>Aca p.A618T DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Missense_Mutation_p.A602T|DDX3X_ENST00000478993.1_3'UTR NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 618 Gly/Ser-rich. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 cagcagccgcgcaagcagcag 0.502000 HNSCC(61;0.18) 8 24 0 0 1 0 0 GTF3C4 9329 broad.mit.edu 37 9 135564267 135564267 + Splice_Site SNP G G C TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr9:135564267G>C ENST00000372146.4 + 5 2968 c.e5-1 NM_012204.2 NP_036336.2 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC, polypeptide 4, 90kDa transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) TCCTTTTGCAGATCCCGACTG 0.478000 11 108 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155219118 155219118 + Silent SNP G G T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr4:155219118G>T ENST00000357232.3 - 18 4982 c.4983C>A c.(4981-4983)ggC>ggA p.G1661G NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1661 Cadherin 14. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TGGCTGGAATGCCCTGGTCTG 0.428000 5 46 0.00116845 0.00124303 1 1 0 ZNF263 10127 broad.mit.edu 37 16 3340303 3340303 + Silent SNP A A G TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr16:3340303A>G ENST00000219069.5 + 6 2673 c.1797A>G c.(1795-1797)ggA>ggG p.G599G ZNF263_ENST00000538765.1_Silent_p.G247G NM_005741.4 NP_005732.2 O14978 ZN263_HUMAN zinc finger protein 263 599 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3) 20 CACACACAGGAGAGAAACCGT 0.458000 12 48 0 0 1 0 0 CYP3A43 64816 broad.mit.edu 37 7 99447302 99447302 + Missense_Mutation SNP T T C TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr7:99447302T>C ENST00000354829.2 + 7 758 c.655T>C c.(655-657)Ttt>Ctt p.F219L CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000342499.4_Missense_Mutation_p.L81P|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000222382.5_Missense_Mutation_p.F219L|CYP3A43_ENST00000312017.5_Missense_Mutation_p.F219L NM_022820.3|NM_057095.1 NP_073731.1|NP_476436.1 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 43 219 Missing (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) TTTGGATCCCTTTTTACTCTT 0.299000 3 24 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45646167 45646167 + Missense_Mutation SNP C C T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr14:45646167C>T ENST00000267430.5 + 14 4295 c.4210C>T c.(4210-4212)Cat>Tat p.H1404Y FANCM_ENST00000542564.2_Missense_Mutation_p.H1378Y NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1404 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TAAATCCTGTCATTCTGTTGA 0.279000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 5 35 0 0 1 0 0 DPY19L3 147991 broad.mit.edu 37 19 32902241 32902241 + Missense_Mutation SNP C C T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr19:32902241C>T ENST00000342179.5 + 3 415 c.200C>T c.(199-201)aCg>aTg p.T67M DPY19L3_ENST00000586987.1_Missense_Mutation_p.T67M|DPY19L3_ENST00000392250.2_Missense_Mutation_p.T67M|DPY19L3_ENST00000587077.1_Missense_Mutation_p.T67M NM_207325.2 NP_997208.2 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 (C. elegans) 67 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1) 32 Esophageal squamous(110;0.162) TACCTTGCCACGTTACATGAA 0.378000 7 86 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 5 32 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77425859 77425859 + Missense_Mutation SNP C C T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr15:77425859C>T ENST00000560626.2 - 6 4040 c.3565G>A c.(3565-3567)Gat>Aat p.D1189N PEAK1_ENST00000312493.4_Missense_Mutation_p.D1189N Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 1189 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding GGGTCGATATCATAGGTGGGA 0.458000 10 65 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237551425 237551425 + Nonsense_Mutation SNP G G T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr1:237551425G>T ENST00000366574.2 + 10 1032 c.715G>T c.(715-717)Gga>Tga p.G239* RYR2_ENST00000542537.1_Nonsense_Mutation_p.G223*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.G237* NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 239 MIR 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTTGCTGCATGGACACATGGA 0.488000 9 66 5.16669e-11 6.22492e-11 1 1 0 SPTA1 6708 broad.mit.edu 37 1 158651439 158651439 + Missense_Mutation SNP G G A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr1:158651439G>A ENST00000368148.3 - 4 589 c.409C>T c.(409-411)Cgc>Tgc p.R137C SPTA1_ENST00000368147.3_Missense_Mutation_p.R137C NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 137 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CACAGGTGGCGTAGCTCCTCT 0.547000 4 76 0 0 1 0 0 CHD1 1105 broad.mit.edu 37 5 98192267 98192267 + Silent SNP C C A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr5:98192267C>A ENST00000284049.3 - 35 5099 c.4950G>T c.(4948-4950)acG>acT p.T1650T NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1650 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) ATTTATGGTGCGTATATTCAG 0.438000 6 51 0.00307968 0.003208 1 1 0 PCDHGA10 56106 broad.mit.edu 37 5 140793954 140793954 + Missense_Mutation SNP T T G TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr5:140793954T>G ENST00000398610.2 + 1 1212 c.1212T>G c.(1210-1212)agT>agG p.S404R PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCATTGACAGTTATTACAGAT 0.418000 9 49 0 0 1 0 0 APCDD1L 164284 broad.mit.edu 37 20 57042277 57042277 + Missense_Mutation SNP G G A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr20:57042277G>A ENST00000371149.3 - 3 856 c.626C>T c.(625-627)cCc>cTc p.P209L APCDD1L_ENST00000439429.1_Missense_Mutation_p.P220L NM_153360.1 NP_699191.1 Q8NCL9 APCDL_HUMAN adenomatosis polyposis coli down-regulated 1-like 209 integral to membrane large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1) 18 Lung NSC(12;0.000856)|all_lung(29;0.0025) BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06) CGACGCCCGGGGCTGCGGCTG 0.761000 2 4 0 0 1 0 0 TLR6 10333 broad.mit.edu 37 4 38829364 38829364 + Missense_Mutation SNP C C T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr4:38829364C>T ENST00000436693.2 - 2 1850 c.1731G>A c.(1729-1731)atG>atA p.M577I TLR6_ENST00000381950.1_Missense_Mutation_p.M577I NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 577 LRRCT. activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ATAATTCAGACATGTGAAAGT 0.468000 10 59 0 0 1 0 0 BARHL2 343472 broad.mit.edu 37 1 91178090 91178090 + Missense_Mutation SNP A A T TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr1:91178090A>T ENST00000370445.4 - 3 984 c.943T>A c.(943-945)Tat>Aat p.Y315N NM_020063.1 NP_064447.1 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 315 nucleus sequence-specific DNA binding cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) TGATAGAAATAAGGCGATGGA 0.617000 6 44 0 0 1 0 0 RC3H2 54542 broad.mit.edu 37 9 125621297 125621297 + Missense_Mutation SNP G G A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr9:125621297G>A ENST00000373670.1 - 11 2534 c.1934C>T c.(1933-1935)tCc>tTc p.S645F RC3H2_ENST00000423239.2_Missense_Mutation_p.S645F|RC3H2_ENST00000357244.2_Missense_Mutation_p.S645F Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type domains 2 645 Pro-rich. cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 TGGGAGGGAGGACTCTGGAAC 0.512000 9 66 0 0 1 0 0 GPAT2 150763 broad.mit.edu 37 2 96690533 96690533 + Missense_Mutation SNP G G C TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr2:96690533G>C ENST00000434632.1 - 15 1875 c.1416C>G c.(1414-1416)ttC>ttG p.F472L GPAT2_ENST00000453542.1_Missense_Mutation_p.F401L|GPAT2_ENST00000359548.4_Missense_Mutation_p.F472L|GPAT2_ENST00000377137.3_Missense_Mutation_p.F472L Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, mitochondrial 472 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3) 16 TCTGATGCTTGAAGAGCAGCA 0.657000 50 361 0 0 1 0 0 INPP5J 27124 broad.mit.edu 37 22 31524489 31524489 + Missense_Mutation SNP G G A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr22:31524489G>A ENST00000331075.5 + 9 2091 c.2042G>A c.(2041-2043)cGt>cAt p.R681H INPP5J_ENST00000404390.3_Missense_Mutation_p.R313H|INPP5J_ENST00000402238.1_Missense_Mutation_p.R46H|INPP5J_ENST00000400294.2_Missense_Mutation_p.R314H|INPP5J_ENST00000401755.1_Missense_Mutation_p.R46H|INPP5J_ENST00000412277.2_Missense_Mutation_p.R614H|INPP5J_ENST00000405300.1_Missense_Mutation_p.R314H|INPP5J_ENST00000404453.1_Missense_Mutation_p.R46H Q15735 PI5PA_HUMAN inositol polyphosphate-5-phosphatase J 681 Catalytic (Potential). cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 12 TGGACAGACCGTATCCTATGG 0.607000 5 19 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46897021 46897021 + Missense_Mutation SNP C C G rs139692226 TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr11:46897021C>G ENST00000378623.1 - 27 4153 c.3911G>C c.(3910-3912)cGg>cCg p.R1304P NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1304 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) TGGCTGTGCCCGGTCCACAGC 0.582000 5 57 0 0 1 0 0 RGS7BP 401190 broad.mit.edu 37 5 63871619 63871619 + Silent SNP C C A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr5:63871619C>A ENST00000334025.2 + 3 677 c.351C>A c.(349-351)atC>atA p.I117I RGS7BP_ENST00000508162.1_3'UTR NM_001029875.1|NM_001271890.1|NM_001271891.1 NP_001025046.1|NP_001258819.1|NP_001258820.1 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding protein 117 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) ATGGTGAGATCCATCCAGAAA 0.453000 6 50 0.00198382 0.00208823 1 1 0 AC079305.8 0 broad.mit.edu 37 2 178042511 178042511 + RNA DEL G G - TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr2:178042511delG ENST00000455416.1 - 0 166 CATCGAGGAAGGGCGCATCCA 0.552 2 4 --- --- --- --- RRAGD 58528 broad.mit.edu 37 6 90121645 90121647 + In_Frame_Del DEL TCC TCC - TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr6:90121645_90121647delTCC ENST00000369415.4 - 1 342_344 c.66_68delGGA c.(64-69)gat>ga p.ED22del RRAGD_ENST00000359203.2_5'UTR NM_021244.4 NP_067067.1 Q9NQL2 RRAGD_HUMAN Ras-related GTP binding D 22 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosome|nucleus GTP binding|protein heterodimerization activity breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2) 15 all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139) BRCA - Breast invasive adenocarcinoma(108;0.0144) CACCAGctcatcctcctcctcct 0.754 3 4 --- --- --- --- WBP1L 54838 broad.mit.edu 37 10 104569669 104569671 + In_Frame_Del DEL CAT CAT - TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr10:104569669_104569671delCAT ENST00000369889.4 + 3 292_294 c.150_152delCAT c.(148-153)acc>ac p.TI50del WBP1L_ENST00000448841.1_In_Frame_Del_p.TI71del NM_017787.4 NP_060257.4 Q9NX94 OPA1L_HUMAN WW domain binding protein 1-like 50 integral to membrane TGGTGTGGACCATCATCATCATC 0.606 7 521 --- --- --- --- GSPT1 2935 broad.mit.edu 37 16 12009531 12009539 + In_Frame_Del DEL CCGCCGCCG CCGCCGCCG - TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr16:12009531_12009539delCCGCCGCCG ENST00000434724.2 - 1 238_246 c.39_47delCGGCGGCGG c.(37-48)ggg>gg p.GGGG13del AC007216.1_ENST00000583357.1_RNA|GSPT1_ENST00000420576.2_Intron|GSPT1_ENST00000439887.2_In_Frame_Del_p.GGGG13del NM_001130006.1|NM_002094.3 NP_001123478.1|NP_002085.2 P15170 ERF3A_HUMAN G1 to S phase transition 1 40 G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation intracellular GTP binding|GTPase activity|protein binding|translation release factor activity breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 14 gctgctgctcccgccgccgccgccgccgc 0.780 4 2 --- --- --- --- KCTD1 284252 broad.mit.edu 37 18 24128223 24128225 + In_Frame_Del DEL TCC TCC - TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr18:24128223_24128225delTCC ENST00000417602.1 - 1 275_277 c.276_278delGGA c.(274-279)gaa>ga p.EE94del KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000408011.3_Intron NM_001142730.2 NP_001136202.1 Q719H9 KCTD1_HUMAN potassium channel tetramerization domain containing 1 0 BTB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|voltage-gated potassium channel complex transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3) 12 all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848) Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05) ctcctcctcttcctcctcctcct 0.655 2 4 --- --- --- --- KRTAP10-7 386675 broad.mit.edu 37 21 46020656 46020670 + In_Frame_Del DEL CTGCTGCGCCCCCAG CTGCTGCGCCCCCAG - rs36208679 TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chr21:46020656_46020670delCTGCTGCGCCCCCAG ENST00000380102.2 + 1 160_174 c.135_149delCTGCTGCGCCCCCAG c.(133-150)ccc>cc p.PCCAPS45del TSPEAR_ENST00000323084.4_Intron NM_198689.2 NP_941962.1 P60409 KR107_HUMAN keratin associated protein 10-7 45 30 X 5 AA repeats of C-C-X(3). keratin filament p.S50_P54delSCCAP(1) breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC 0.698 8 12 --- --- --- --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cb254e7-2e31-4ab4-85bd-78d50ced69ee 45b8d355-f634-4008-ae65-b2246f464ae8 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 2 4 --- --- --- ---