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 MTHFR 4524 broad.mit.edu 37 1 11860307 11860307 + Missense_Mutation SNP C C T TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr1:11860307C>T ENST00000376592.1 - 3 676 c.548G>A c.(547-549)cGa>cAa p.R183Q MTHFR_ENST00000376585.1_Missense_Mutation_p.R224Q|MTHFR_ENST00000376583.3_Missense_Mutation_p.R224Q|MTHFR_ENST00000376590.3_Missense_Mutation_p.R183Q P42898 MTHR_HUMAN methylenetetrahydrofolate reductase (NAD(P)H) 183 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) AAACTCACTTCGGATGTGCTT 0.567 5 266 --- --- --- --- HNRNPCL1 343069 broad.mit.edu 37 1 12908039 12908039 + Missense_Mutation SNP G G A TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr1:12908039G>A ENST00000317869.6 - 2 329 c.104C>T c.(103-105)gCg>gTg p.A35V NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 GGAAAAGATCGCCTCCACATC 0.473 6 184 --- --- --- --- CACHD1 57685 broad.mit.edu 37 1 65142590 65142590 + Silent SNP C C T rs150699745 TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr1:65142590C>T ENST00000371073.2 + 22 2988 c.2988C>T c.(2986-2988)tgC>tgT p.C996C CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.C945C Q5VU97 CAHD1_HUMAN cache domain containing 1 996 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 ACCCCAGCTGCGAGGTCCACC 0.547 27 198 --- --- --- --- SPTA1 6708 broad.mit.edu 37 1 158627418 158627418 + Missense_Mutation SNP C C T TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr1:158627418C>T ENST00000368147.4 - 19 2834 c.2654G>A c.(2653-2655)cGt>cAt p.R885H NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 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) AGCTCGAGCACGGAGAGACTC 0.468 15 187 --- --- --- --- CD48 962 broad.mit.edu 37 1 160654785 160654785 + Missense_Mutation SNP C C T TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr1:160654785C>T ENST00000368045.3 - 2 316 c.277G>A c.(277-279)Gca>Aca p.A93T CD48_ENST00000368046.3_Missense_Mutation_p.A93T P09326 CD48_HUMAN CD48 molecule 93 Ig-like C2-type 1. blood coagulation|defense response|leukocyte migration integral to plasma membrane|membrane raft protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1) 10 all_cancers(52;2.18e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) ATGTACAGTGCGCCACTCTGA 0.423 4 166 --- --- --- --- GCSAML 148823 broad.mit.edu 37 1 247712451 247712451 + Missense_Mutation SNP G G T TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr1:247712451G>T ENST00000366490.3 + 4 478 c.320G>T c.(319-321)tGg>tTg p.W107L GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366488.4_5'UTR|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000536561.1_5'UTR germinal center-associated, signaling and motility-like TTCCCCAAGTGGAGTGAAACT 0.517 3 53 --- --- --- --- FAM228A 653140 broad.mit.edu 37 2 24406452 24406452 + Nonsense_Mutation SNP T T A TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr2:24406452T>A ENST00000295150.3 + 5 425 c.339T>A c.(337-339)tgT>tgA p.C113* RP11-507M3.1_ENST00000584973.1_3'UTR NM_001040710.1 NP_001035800.1 family with sequence similarity 228, member A CTTCACACTGTGTGATTCCAA 0.408 3 43 --- --- --- --- LRPPRC 10128 broad.mit.edu 37 2 44121719 44121719 + Missense_Mutation SNP T T C TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr2:44121719T>C ENST00000260665.7 - 36 4007 c.3950A>G c.(3949-3951)aAg>aGg p.K1317R NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 1317 RNA-binding. mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TGCTTCTTCCTTTTCATTTAA 0.269 3 81 --- --- --- --- DQX1 165545 broad.mit.edu 37 2 74750268 74750268 + Silent SNP C C T TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr2:74750268C>T ENST00000404568.3 - 6 1341 c.1122G>A c.(1120-1122)ttG>ttA p.L374L DQX1_ENST00000393951.2_Silent_p.L374L NM_133637.2 NP_598376.2 Q8TE96 DQX1_HUMAN DEAQ box RNA-dependent ATPase 1 374 Helicase C-terminal. nucleus ATP binding|helicase activity|nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 18 CTCTTGCTCGCAATCGTCTTG 0.507 7 193 --- --- --- --- RANBP2 5903 broad.mit.edu 37 2 109365452 109365452 + Silent SNP C C T TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr2:109365452C>T ENST00000283195.6 + 9 1266 c.1140C>T c.(1138-1140)agC>agT p.S380S NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 380 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CCAACAAAAGCGGGCAGTCTG 0.353 6 232 --- --- --- --- LRP2 4036 broad.mit.edu 37 2 170136033 170136033 + Silent SNP G G A TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr2:170136033G>A ENST00000263816.3 - 12 1699 c.1414C>T c.(1414-1416)Ctg>Ttg p.L472L LRP2_ENST00000443831.1_Silent_p.L472L NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 472 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCCACAGCCAGGTTCTCTGGG 0.353 19 77 --- --- --- --- DNPEP 23549 broad.mit.edu 37 2 220251660 220251660 + Translation_Start_Site SNP C C T TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr2:220251660C>T ENST00000373972.1 - 0 194 DNPEP_ENST00000523282.1_Missense_Mutation_p.S66N|DNPEP_ENST00000273075.4_Missense_Mutation_p.S58N Q9ULA0 DNPEP_HUMAN aspartyl aminopeptidase peptide metabolic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Renal(207;0.0474) Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) L-Glutamic Acid(DB00142) CTTGAGTTCACTGAAGCCAGC 0.587 16 79 --- --- --- --- DLEC1 9940 broad.mit.edu 37 3 38139333 38139333 + Silent SNP G G A TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr3:38139333G>A ENST00000308059.6 + 18 2685 c.2664G>A c.(2662-2664)caG>caA p.Q888Q DLEC1_ENST00000346219.3_Silent_p.Q888Q|DLEC1_ENST00000452631.2_Silent_p.Q888Q Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 888 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) ACGTCAGCCAGCTCCCAGCCA 0.597 3 76 --- --- --- --- UROC1 131669 broad.mit.edu 37 3 126216983 126216983 + Missense_Mutation SNP C C T TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr3:126216983C>T ENST00000290868.2 - 14 1402 c.1349G>A c.(1348-1350)cGc>cAc p.R450H UROC1_ENST00000383579.3_Missense_Mutation_p.R510H NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 450 R -> C (in UROD; loss of activity). histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) GCACACCCAGCGGAAAGGCCC 0.627 9 250 --- --- --- --- MFI2 4241 broad.mit.edu 37 3 196735710 196735710 + Missense_Mutation SNP T T G TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr3:196735710T>G ENST00000296350.5 - 12 1765 c.1652A>C c.(1651-1653)gAg>gCg p.E551A NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 551 Transferrin-like 2. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) GTAATACCGCTCCTGGCTGTT 0.672 6 77 --- --- --- --- SLC45A2 51151 broad.mit.edu 37 5 33947262 33947262 + Silent SNP G G A TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr5:33947262G>A ENST00000382102.3 - 6 1431 c.1374C>T c.(1372-1374)tgC>tgT p.C458C SLC45A2_ENST00000296589.4_Intron|SLC45A2_ENST00000342059.3_Intron NM_001012509.2 NP_001012527 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 0 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 TTCAATGACAGCACACCTCCT 0.498 4 262 --- --- --- --- CCL28 56477 broad.mit.edu 37 5 43382044 43382044 + Missense_Mutation SNP C C A TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr5:43382044C>A ENST00000361115.4 - 3 376 c.302G>T c.(301-303)aGg>aTg p.R101M CCL28_ENST00000513525.1_Missense_Mutation_p.R54M NM_148672.2 NP_683513.1 Q9NRJ3 CCL28_HUMAN chemokine (C-C motif) ligand 28 101 chemotaxis|immune response extracellular space chemokine activity kidney(3)|lung(3)|ovary(1) 7 GTGTTTCTTCCTGTGGCAAAC 0.443 5 175 --- --- --- --- PCDHB14 56122 broad.mit.edu 37 5 140605164 140605164 + Missense_Mutation SNP C C T TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr5:140605164C>T ENST00000239449.4 + 1 2087 c.2087C>T c.(2086-2088)tCg>tTg p.S696L PCDHB14_ENST00000515856.2_Missense_Mutation_p.S543L NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 696 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCATTGGCCTCGGTGTCGTCG 0.711 4 203 --- --- --- --- MAK 4117 broad.mit.edu 37 6 10784683 10784683 + Missense_Mutation SNP T T C TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr6:10784683T>C ENST00000313243.2 - 11 1821 c.1439A>G c.(1438-1440)tAc>tGc p.Y480C RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000354489.2_Missense_Mutation_p.Y480C|MAK_ENST00000538030.1_3'UTR|MAK_ENST00000474039.1_Missense_Mutation_p.Y480C P20794 MAK_HUMAN male germ cell-associated kinase 480 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|cyclin-dependent protein kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1) 22 Breast(50;0.107)|Ovarian(93;0.107) all_hematologic(90;0.117) TTGTTTCAAGTAGTACTGTTT 0.418 6 84 --- --- --- --- MOXD1 26002 broad.mit.edu 37 6 132645229 132645229 + Silent SNP T T G TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr6:132645229T>G ENST00000367963.3 - 7 1072 c.954A>C c.(952-954)atA>atC p.I318I MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Silent_p.I250I NM_015529.2 NP_056344.2 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 318 catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) CAGAATTATCTATTAAGCCTA 0.348 5 65 --- --- --- --- RP1 6101 broad.mit.edu 37 8 55540415 55540415 + Missense_Mutation SNP G G A TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr8:55540415G>A ENST00000220676.1 + 4 4121 c.3973G>A c.(3973-3975)Gga>Aga p.G1325R NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1325 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TACCTATGAGGGAGCTTGCCC 0.393 26 108 --- --- --- --- CCDC180 100499483 broad.mit.edu 37 9 100132347 100132347 + Missense_Mutation SNP C C T rs141047389 TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr9:100132347C>T ENST00000375202.2 + 46 5817 c.4465C>T c.(4465-4467)Cgg>Tgg p.R1489W RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000357054.1_Missense_Mutation_p.R1434W|CCDC180_ENST00000529487.1_Missense_Mutation_p.R1489W coiled-coil domain containing 180 ACAGCAGAAGCGGCTGGAGAA 0.542 4 29 --- --- --- --- GAD2 2572 broad.mit.edu 37 10 26513522 26513522 + Missense_Mutation SNP G G T TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr10:26513522G>T ENST00000376261.3 + 6 1169 c.666G>T c.(664-666)aaG>aaT p.K222N GAD2_ENST00000259271.3_Missense_Mutation_p.K222N|GAD2_ENST00000376248.1_Missense_Mutation_p.K108N NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 222 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) TCACACTAAAGAAAATGAGAG 0.378 5 120 --- --- --- --- CSTF2T 23283 broad.mit.edu 37 10 53458034 53458034 + Missense_Mutation SNP C C T TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr10:53458034C>T ENST00000331173.4 - 1 1321 c.1276G>A c.(1276-1278)Gag>Aag p.E426K PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron NM_015235.2 NP_056050.1 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant 426 9 X 5 AA tandem repeats of M-E-T-R-[AG].|Gly-rich. mRNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) TCTAAGACCTCAGTTTCCATG 0.527 8 90 --- --- --- --- SLCO2B1 11309 broad.mit.edu 37 11 74904264 74904264 + Splice_Site SNP C C A TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr11:74904264C>A ENST00000289575.5 + 9 1472 c.1077C>A c.(1075-1077)gtC>gtA p.V359V SLCO2B1_ENST00000428359.2_Splice_Site_p.V337V|SLCO2B1_ENST00000531756.1_Splice_Site_p.V104V|SLCO2B1_ENST00000454962.2_Splice_Site_p.V132V|SLCO2B1_ENST00000525650.1_Splice_Site_p.V215V|SLCO2B1_ENST00000532236.1_Splice_Site_p.V243V|SLCO2B1_ENST00000341411.4_Splice_Site_p.V132V NM_007256.4 NP_009187 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 359 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) CCCCCACAGTCTTCCCCAGGG 0.617 5 120 --- --- --- --- PRKAG1 5571 broad.mit.edu 37 12 49398943 49398943 + Missense_Mutation SNP C C A TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr12:49398943C>A ENST00000548065.1 - 6 771 c.315G>T c.(313-315)caG>caT p.Q105H RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Q54H|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Q21H|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Q73H|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Q114H|RP11-386G11.5_ENST00000547866.1_RNA P54619 AAKG1_HUMAN protein kinase, AMP-activated, gamma 1 non-catalytic subunit 105 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis cytosol cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 9 GCTCATAGATCTGTACCTGAA 0.423 5 118 --- --- --- --- ZDHHC17 23390 broad.mit.edu 37 12 77222174 77222174 + Missense_Mutation SNP T T C TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr12:77222174T>C ENST00000426126.2 + 10 1694 c.1045T>C c.(1045-1047)Ttt>Ctt p.F349L ZDHHC17_ENST00000334822.5_Missense_Mutation_p.F349L NM_015336.2 NP_056151.2 Q8IUH5 ZDH17_HUMAN zinc finger, DHHC-type containing 17 349 lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14) 23 TTACAGATCCTTTTTCGATCA 0.308 3 197 --- --- --- --- DEGS2 123099 broad.mit.edu 37 14 100613237 100613237 + Missense_Mutation SNP T T G TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr14:100613237T>G ENST00000305631.5 - 3 1408 c.833A>C c.(832-834)aAg>aCg p.K278T DEGS2_ENST00000553834.1_Missense_Mutation_p.E30D NM_206918.2 NP_996801.2 Q6QHC5 DEGS2_HUMAN delta(4)-desaturase, sphingolipid 2 278 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane sphingosine hydroxylase activity breast(1)|lung(6)|skin(1) 8 Melanoma(154;0.212) GGGCGCGATCTTCCGCACCTG 0.657 7 87 --- --- --- --- SPTBN5 51332 broad.mit.edu 37 15 42147470 42147470 + Silent SNP C C T TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr15:42147470C>T ENST00000320955.6 - 55 9602 c.9375G>A c.(9373-9375)gcG>gcA p.A3125A NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 3125 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CGGCGGTGGCCGCCTTGGTGG 0.677 3 44 --- --- --- --- C15orf26 161502 broad.mit.edu 37 15 81427611 81427611 + Splice_Site SNP G G T TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr15:81427611G>T ENST00000286732.4 + 2 153 c.70G>T c.(70-72)Gag>Tag p.E24* NM_173528.2 NP_775799.2 Q6P656 CO026_HUMAN chromosome 15 open reading frame 26 24 endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1) 17 TTCTGTTTAGGAGCTCATGAA 0.338 5 53 --- --- --- --- ACAN 176 broad.mit.edu 37 15 89398620 89398620 + Missense_Mutation SNP G G A TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr15:89398620G>A ENST00000439576.2 + 12 3178 c.2804G>A c.(2803-2805)gGt>gAt p.G935D ACAN_ENST00000352105.7_Missense_Mutation_p.G935D|ACAN_ENST00000561243.1_Missense_Mutation_p.G935D|ACAN_ENST00000559004.1_Missense_Mutation_p.G935D NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 935 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CCTACGGTTGGTGAACTGCCC 0.557 4 34 --- --- --- --- HS3ST2 9956 broad.mit.edu 37 16 22926769 22926769 + Silent SNP A A G TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr16:22926769A>G ENST00000261374.3 + 2 1424 c.990A>G c.(988-990)aaA>aaG p.K330K NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 330 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) GCAAATCAAAAGGGAGAACTC 0.418 4 201 --- --- --- --- NLRC5 84166 broad.mit.edu 37 16 57088675 57088675 + Silent SNP G G A rs148506460 TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr16:57088675G>A ENST00000436936.1 + 25 3744 c.3519G>A c.(3517-3519)acG>acA p.T1173T NLRC5_ENST00000308149.7_Silent_p.T1173T|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000539144.1_Silent_p.T1173T|NLRC5_ENST00000262510.6_Silent_p.T1173T Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1173 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) TGAGCCAGACGGGACTGTCCC 0.592 5 410 --- --- --- --- GINS3 64785 broad.mit.edu 37 16 58437218 58437218 + Missense_Mutation SNP T T C TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr16:58437218T>C ENST00000318129.5 + 2 611 c.403T>C c.(403-405)Tcc>Ccc p.S135P GINS3_ENST00000426538.2_Missense_Mutation_p.S174P|GINS3_ENST00000328514.7_Intron NM_022770.3 NP_073607.2 Q9BRX5 PSF3_HUMAN GINS complex subunit 3 (Psf3 homolog) 135 DNA replication nucleus NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 7 TGCAGACATTTCCCAGTCTCT 0.517 11 29 --- --- --- --- MRPS23 51649 broad.mit.edu 37 17 55917219 55917219 + Missense_Mutation SNP C C A TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr17:55917219C>A ENST00000313608.8 - 5 543 c.498G>T c.(496-498)gaG>gaT p.E166D NM_016070.3 NP_057154.2 Q9Y3D9 RT23_HUMAN mitochondrial ribosomal protein S23 166 translation intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome structural constituent of ribosome endometrium(2)|large_intestine(1)|lung(2) 5 Breast(9;8.75e-08) CTTTCTGAGTCTCGTTTTCTT 0.488 5 74 --- --- --- --- TCF3 6929 broad.mit.edu 37 19 1615477 1615477 + Silent SNP C C T rs1052738 TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr19:1615477C>T ENST00000262965.5 - 18 1973 c.1629G>A c.(1627-1629)aaG>aaA p.K543K TCF3_ENST00000395423.3_Silent_p.K547K|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron NM_003200.3 NP_003191.1 P15923 TFE2_HUMAN transcription factor 3 543 B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCGCTCGGCCTTCTGCTCTG 0.687 T """PBX1, HLF, TFPT""" pre B-ALL 28 73 --- --- --- --- ZNF536 9745 broad.mit.edu 37 19 30936378 30936378 + Missense_Mutation SNP G G A TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr19:30936378G>A ENST00000355537.3 + 2 2056 c.1909G>A c.(1909-1911)Ggc>Agc p.G637S NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 637 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.G637S(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CCCCGACTGCGGCCGGGTGTT 0.622 4 173 --- --- --- --- CATSPERG 57828 broad.mit.edu 37 19 38858384 38858384 + Silent SNP C C T rs2302184 TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr19:38858384C>T ENST00000409235.3 + 25 3013 c.2898C>T c.(2896-2898)gaC>gaT p.D966D CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.D926D NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 966 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 ACAGTGAGGACGAAATCTACC 0.597 27 388 --- --- --- --- CNTD2 79935 broad.mit.edu 37 19 40730407 40730407 + Silent SNP G G A TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr19:40730407G>A ENST00000430325.2 - 3 549 c.501C>T c.(499-501)tgC>tgT p.C167C CNTD2_ENST00000513948.1_Silent_p.C61C|CNTD2_ENST00000433940.1_Silent_p.C137C NM_024877.3 NP_079153.2 B4DX65 B4DX65_HUMAN cyclin N-terminal domain containing 2 167 regulation of cyclin-dependent protein kinase activity protein kinase binding lung(1)|prostate(1) 2 CGGGAAGCACGCACTCTTCCA 0.592 9 486 --- --- --- --- EXO5 64789 broad.mit.edu 37 1 40980662 40980663 + Frame_Shift_Del DEL AC AC - TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr1:40980662_40980663delAC ENST00000372703.1 + 2 1520_1521 c.446_447delAC c.(445-447)aacfs p.N149fs EXO5_ENST00000296380.4_Frame_Shift_Del_p.N149fs|RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Frame_Shift_Del_p.N149fs exonuclease 5 AAGTTTCTGAACATACTTTTGC 0.460 7 102 --- --- --- --- ATP2A2 488 broad.mit.edu 37 12 110777198 110777199 + Frame_Shift_Ins INS - - G TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85714546-69c0-468e-b38a-3e0e886d44c7 67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6 g.chr12:110777198_110777199insG ENST00000395494.2 + 11 2014_2015 c.1451_1452insG c.(1450-1455)atgtttfs p.F485fs ATP2A2_ENST00000539276.2_Frame_Shift_Ins_p.F512fs|ATP2A2_ENST00000308664.6_Frame_Shift_Ins_p.F512fs P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 512 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 ATGAGCAAGATGTTTGTGAAGG 0.381 18 60 --- --- --- ---