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 TMEM37 140738 broad.mit.edu 37 2 120194538 120194538 + Missense_Mutation SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr2:120194538C>T ENST00000306406.4 + 2 130 c.95C>T c.(94-96)aCg>aTg p.T32M TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000409826.1_Missense_Mutation_p.T44M NM_183240.2 NP_899063.2 Q8WXS4 CCGL_HUMAN transmembrane protein 37 32 integral to membrane calcium channel activity|voltage-gated ion channel activity p.T32M(1) breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 CTCATCATCACGTGTGTGGCC 0.612000 14 186 0 0 1 0 0 ANKRD23 200539 broad.mit.edu 37 2 97505287 97505287 + Silent SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr2:97505287C>T ENST00000318357.4 - 9 958 c.917G>A c.(916-918)tGa>tAa p.*306* ANKRD23_ENST00000476975.1_Intron|ANKRD23_ENST00000418232.1_Silent_p.*306*|ANKRD23_ENST00000331001.2_Silent_p.*264* NM_144994.7 NP_659431.5 Q86SG2 ANR23_HUMAN ankyrin repeat domain 23 0 nucleus endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1) 9 GTGCTGCGGTCAGCACCGGGT 0.736000 11 16 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31683271 31683271 + Missense_Mutation SNP C C A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr7:31683271C>A ENST00000319386.3 + 11 2836 c.1843C>A c.(1843-1845)Cag>Aag p.Q615K CCDC129_ENST00000409210.1_Missense_Mutation_p.Q671K|CCDC129_ENST00000407970.3_Missense_Mutation_p.Q763K|CCDC129_ENST00000451887.2_Missense_Mutation_p.Q789K Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 763 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 TGCTTCCATTCAGACTTCAGC 0.483000 6 115 0.00116845 0.00122305 1 1 0 HYDIN 54768 broad.mit.edu 37 16 71026037 71026037 + Missense_Mutation SNP C C A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr16:71026037C>A ENST00000393567.2 - 24 3871 c.3721G>T c.(3721-3723)Gcc>Tcc p.A1241S HYDIN_ENST00000448089.2_Missense_Mutation_p.A1193S NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1241 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GGTGGGCTGGCAGCCTCTGAG 0.483000 8 91 2.17888e-05 2.41618e-05 1 1 0 EPS15 2060 broad.mit.edu 37 1 51873977 51873977 + Missense_Mutation SNP T T A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr1:51873977T>A ENST00000371733.3 - 15 1399 c.1303A>T c.(1303-1305)Agt>Tgt p.S435C EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000371730.2_Intron|EPS15_ENST00000396122.4_Missense_Mutation_p.S112C NM_001981.2 NP_001972.1 P42566 EPS15_HUMAN epidermal growth factor receptor pathway substrate 15 435 cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding p.0?(2) endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2) 35 GATTCCTGACTAGTTAATTCA 0.388000 T MLL ALL 13 64 0 0 1 0 0 DCBLD1 285761 broad.mit.edu 37 6 117861847 117861847 + Missense_Mutation SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr6:117861847C>T ENST00000338728.5 + 10 1238 c.1118C>T c.(1117-1119)tCt>tTt p.S373F DCBLD1_ENST00000534777.1_3'UTR|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.S373F|DCBLD1_ENST00000368503.4_Intron Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 373 F5/8 type C. cell adhesion integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) CAGGGTAACTCTAACTTTCGG 0.428000 12 113 0 0 1 0 0 TTC21A 199223 broad.mit.edu 37 3 39174683 39174683 + Silent SNP G G T rs35645810 TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr3:39174683G>T ENST00000301819.6 + 20 2904 c.2727G>T c.(2725-2727)gcG>gcT p.A909A TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000431162.2_Silent_p.A908A|TTC21A_ENST00000440121.1_Silent_p.A860A NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 908 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) ATGACAAGGCGGTACAGTCTT 0.493000 19 61 3.51602e-12 4.1893e-12 1 1 0 KCNB2 9312 broad.mit.edu 37 8 73848282 73848282 + Missense_Mutation SNP G G A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr8:73848282G>A ENST00000523207.1 + 3 1280 c.692G>A c.(691-693)cGc>cAc p.R231H NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 231 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AATGACAACCGCCAATTAGCA 0.458000 10 169 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr1:142713773C>G ENST00000610091.1 - 0 1885 TCTTTTTCCACATTGTCATTT 0.284000 5 34 0 0 1 0 0 CYCS 54205 broad.mit.edu 37 7 25163680 25163680 + Missense_Mutation SNP G G T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr7:25163680G>T ENST00000305786.2 - 2 228 c.59C>A c.(58-60)aCc>aAc p.T20N CYCS_ENST00000409409.1_Missense_Mutation_p.T20N|CYCS_ENST00000409764.1_Missense_Mutation_p.T20N NM_018947.5 NP_061820.1 P99999 CYC_HUMAN cytochrome c, somatic 20 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 4 Melatonin(DB01065)|Minocycline(DB01017) CTTTTCAACGGTGTGGCACTG 0.438000 12 51 6.40141e-05 7.029e-05 1 1 0 OR4D9 390199 broad.mit.edu 37 11 59282718 59282718 + Silent SNP C C T rs149287111 byFrequency TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr11:59282718C>T ENST00000329328.3 + 1 333 c.333C>T c.(331-333)gaC>gaT p.D111D NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 GGGGAGCAGACGTTTTTTCTC 0.493000 6 123 0 0 1 0 0 CAND1 55832 broad.mit.edu 37 12 67686475 67686475 + Missense_Mutation SNP C C G TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr12:67686475C>G ENST00000545606.1 + 3 723 c.286C>G c.(286-288)Ctt>Gtt p.L96V NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 96 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) CACTAACATGCTTTCTGATAA 0.358000 8 39 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134003022 134003022 + Missense_Mutation SNP G G A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr9:134003022G>A ENST00000359428.5 + 2 301 c.157G>A c.(157-159)Gct>Act p.A53T NUP214_ENST00000411637.2_Missense_Mutation_p.A53T|NUP214_ENST00000451030.1_Missense_Mutation_p.A53T P35658 NU214_HUMAN nucleoporin 214kDa 53 carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TCTGGTCTTCGCTGGTGGAGC 0.448000 T """DEK, SET, ABL1""" """AML, T-ALL""" 11 150 0 0 1 0 0 AIFM1 9131 broad.mit.edu 37 X 129281476 129281476 + Silent SNP T T C rs143670174 TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chrX:129281476T>C ENST00000287295.3 - 5 827 c.597A>G c.(595-597)aaA>aaG p.K199K AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000319908.3_Silent_p.K195K|AIFM1_ENST00000535724.1_Silent_p.K112K NM_001130847.3|NM_004208.3 NP_001124319.1|NP_004199.1 O95831 AIFM1_HUMAN apoptosis-inducing factor, mitochondrion-associated, 1 199 FAD-dependent oxidoreductase (By similarity). activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 ACCTTCTCTCTTTTCCATTCC 0.423000 4 50 0 0 1 0 0 KANSL3 55683 broad.mit.edu 37 2 97274330 97274330 + Silent SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr2:97274330C>T ENST00000599854.1 - 14 1862 c.1395G>A c.(1393-1395)caG>caA p.Q465Q KANSL3_ENST00000441706.2_Silent_p.Q465Q|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Silent_p.Q346Q|KANSL3_ENST00000431828.1_Silent_p.Q552Q NM_001115016.2 NP_001108488.1 Q9P2N6 K1310_HUMAN KAT8 regulatory NSL complex subunit 3 552 GACTGGACTTCTGGGCAGAGG 0.532000 23 97 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 3 69 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36710274 36710274 + Missense_Mutation SNP C C G TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr22:36710274C>G ENST00000216181.5 - 13 1700 c.1470G>C c.(1468-1470)gaG>gaC p.E490D NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 490 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCTGGTACTCCTCCTGCTCCA 0.542000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 7 109 0 0 1 0 0 HPS3 84343 broad.mit.edu 37 3 148847537 148847537 + Silent SNP G G A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr3:148847537G>A ENST00000296051.2 + 1 167 c.27G>A c.(25-27)ccG>ccA p.P9P HPS3_ENST00000460120.1_Silent_p.P9P|HPS3_ENST00000494327.1_3'UTR NM_032383.3 NP_115759.2 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 9 cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) ACCTGCACCCGTTCGGGTCGC 0.716000 Hermansky-Pudlak syndrome 7 45 0 0 1 0 0 PRKRA 8575 broad.mit.edu 37 2 179308096 179308096 + Missense_Mutation SNP G G T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr2:179308096G>T ENST00000325748.4 - 5 612 c.412C>A c.(412-414)Cat>Aat p.H138N PRKRA_ENST00000432031.2_Missense_Mutation_p.H127N|PRKRA_ENST00000487082.1_Missense_Mutation_p.H113N|PRKRA_ENST00000438687.3_Missense_Mutation_p.H25N NM_003690.4 NP_003681.1 O75569 PRKRA_HUMAN protein kinase, interferon-inducible double stranded RNA dependent activator 138 DRBM 2.|Sufficient for self-association and interaction with TARBP2. immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus perinuclear region of cytoplasm double-stranded RNA binding|enzyme activator activity|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2) 19 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265) CTCCAGCCATGATGAATAGCC 0.368000 4 22 0.014758 0.0150263 1 1 0 CREB3L1 90993 broad.mit.edu 37 11 46333971 46333971 + Silent SNP C C A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr11:46333971C>A ENST00000529193.1 + 6 1300 c.849C>A c.(847-849)ctC>ctA p.L283L CREB3L1_ENST00000288400.3_Silent_p.L283L Q96BA8 CR3L1_HUMAN cAMP responsive element binding protein 3-like 1 283 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L1(6) NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3) 12 GBM - Glioblastoma multiforme(35;0.0285) AACTCCCCCTCACCAAAGCCG 0.567000 T FUS myxofibrosarcoma 13 66 0.00185496 0.00192366 1 1 0 C17orf75 64149 broad.mit.edu 37 17 30662407 30662407 + Missense_Mutation SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr17:30662407C>T ENST00000577809.1 - 6 653 c.604G>A c.(604-606)Gtt>Att p.V202I RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.V202I NM_022344.3 NP_071739.2 Q9HAS0 NJMU_HUMAN chromosome 17 open reading frame 75 202 spermatogenesis ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) GGGCATACAACATCCTCAAAC 0.408000 35 94 0 0 1 0 0 EVC2 132884 broad.mit.edu 37 4 5578082 5578082 + Missense_Mutation SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr4:5578082C>T ENST00000310917.2 - 18 3648 c.2917G>A c.(2917-2919)Gat>Aat p.D973N EVC2_ENST00000344938.1_Missense_Mutation_p.D1053N|EVC2_ENST00000344408.5_Missense_Mutation_p.D1053N NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 1053 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 CCGGGCCCATCGGCCACCCAC 0.627000 6 92 0 0 1 0 0 ANKRD24 170961 broad.mit.edu 37 19 4207307 4207307 + Missense_Mutation SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr19:4207307C>T ENST00000600132.1 + 8 811 c.535C>T c.(535-537)Cgg>Tgg p.R179W ANKRD24_ENST00000318934.4_Missense_Mutation_p.R179W|ANKRD24_ENST00000262970.5_Missense_Mutation_p.R269W NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 179 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) CCCCCAAGATCGGGTAAGCTT 0.512000 OREG0025162 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 62 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 93027008 93027008 + Silent SNP G G A rs144377527 byFrequency TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr8:93027008G>A ENST00000523629.1 - 4 721 c.267C>T c.(265-267)ggC>ggT p.G89G RUNX1T1_ENST00000436581.2_Silent_p.G100G|RUNX1T1_ENST00000520724.1_Silent_p.G52G|RUNX1T1_ENST00000265814.3_Silent_p.G89G|RUNX1T1_ENST00000518844.1_Silent_p.G62G|RUNX1T1_ENST00000422361.2_Silent_p.G52G|RUNX1T1_ENST00000360348.2_Silent_p.G52G|RUNX1T1_ENST00000396218.1_Silent_p.G62G|RUNX1T1_ENST00000521553.1_Silent_p.G52G NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 89 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) GTGAGGGGGCGCCATTCAAGG 0.517000 10 64 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884221 228884221 + Missense_Mutation SNP A A T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr2:228884221A>T ENST00000392056.3 - 7 1395 c.1349T>A c.(1348-1350)aTc>aAc p.I450N SPHKAP_ENST00000344657.5_Missense_Mutation_p.I450N NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 450 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AACAACGACGATTTTGGGGAG 0.502000 18 116 0 0 1 0 0 KANK4 163782 broad.mit.edu 37 1 62740007 62740007 + Missense_Mutation SNP C C A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr1:62740007C>A ENST00000371153.4 - 3 1147 c.769G>T c.(769-771)Gtg>Ttg p.V257L KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 257 Pro-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 ACTACAAGCACATTCTGGAAT 0.567000 7 68 0.000157383 0.00016949 1 1 0 IYD 389434 broad.mit.edu 37 6 150719234 150719234 + Missense_Mutation SNP G G T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr6:150719234G>T ENST00000344419.3 + 5 871 c.731G>T c.(730-732)gGc>gTc p.G244V IYD_ENST00000392256.2_3'UTR|IYD_ENST00000229447.5_Missense_Mutation_p.W281C NM_203395.2 NP_981932.1 Q6PHW0 IYD1_HUMAN iodotyrosine deiodinase 244 cellular nitrogen compound metabolic process|hormone biosynthetic process integral to membrane|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) CTCAACTGTGGCCCTCGACTG 0.567000 13 121 2.23348e-06 2.52677e-06 1 1 0 CREB5 9586 broad.mit.edu 37 7 28858838 28858838 + Missense_Mutation SNP G G A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr7:28858838G>A ENST00000357727.2 + 11 1859 c.1469G>A c.(1468-1470)gGa>gAa p.G490E CREB5_ENST00000409603.1_Missense_Mutation_p.G457E|CREB5_ENST00000396300.2_Missense_Mutation_p.G483E|CREB5_ENST00000396299.2_Missense_Mutation_p.G457E|CREB5_ENST00000396298.2_Missense_Mutation_p.G351E NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 490 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 GAGGTGGTAGGAAGCTCCACC 0.527000 43 219 0 0 1 0 0 VARS2 57176 broad.mit.edu 37 6 30892288 30892288 + Missense_Mutation SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr6:30892288C>T ENST00000321897.5 + 25 3256 c.2624C>T c.(2623-2625)cCc>cTc p.P875L VARS2_ENST00000542001.1_Missense_Mutation_p.P735L|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000541562.1_Missense_Mutation_p.P905L|VARS2_ENST00000416670.2_Missense_Mutation_p.P875L Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 875 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 CCTGGTTGCCCCCCTGCCCCC 0.682000 4 61 0 0 1 0 0 MC3R 4159 broad.mit.edu 37 20 54824542 54824542 + Silent SNP C C A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr20:54824542C>A ENST00000243911.2 + 1 755 c.643C>A c.(643-645)Cgg>Agg p.R215R NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 252 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) CCTCTTTGCGCGGCTGCACGT 0.572000 12 146 2.80697e-09 3.24104e-09 1 1 0 NOL6 65083 broad.mit.edu 37 9 33469616 33469616 + Missense_Mutation SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr9:33469616C>T ENST00000379471.2 - 5 695 c.608G>A c.(607-609)cGt>cAt p.R203H NOL6_ENST00000464829.1_5'UTR|NOL6_ENST00000455041.2_Missense_Mutation_p.R143H Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 203 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) GTAGAGGGCACGCTTGCGGAA 0.592000 17 208 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33364161 33364161 + Missense_Mutation SNP C C A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr20:33364161C>A ENST00000374796.2 - 5 2896 c.326G>T c.(325-327)cGg>cTg p.R109L NCOA6_ENST00000359003.2_Missense_Mutation_p.R109L Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 109 CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 AGCAAGGATCCGTAGCCGCTC 0.522000 19 114 5.03518e-11 5.87438e-11 1 1 0 KLK14 43847 broad.mit.edu 37 19 51581407 51581407 + Missense_Mutation SNP C C A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr19:51581407C>A ENST00000391802.1 - 7 879 c.661G>T c.(661-663)Ggg>Tgg p.G221W KLK14_ENST00000156499.2_Missense_Mutation_p.G221W NM_022046.4 NP_071329.2 Q9P0G3 KLK14_HUMAN kallikrein-related peptidase 14 221 Peptidase S1. epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction extracellular space serine-type endopeptidase activity kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 11 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422) AGGGGTCCCCCAGAGTCACCC 0.622000 13 65 9.31168e-06 1.04291e-05 1 1 0 LAMA1 284217 broad.mit.edu 37 18 7013898 7013898 + Missense_Mutation SNP G G T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr18:7013898G>T ENST00000389658.3 - 23 3372 c.3279C>A c.(3277-3279)gaC>gaA p.D1093E NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1093 Laminin EGF-like 13. 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) TCCCCCTCAGGTCACAGTCAC 0.597000 6 34 0.00116845 0.00122305 1 1 0 CAND1 55832 broad.mit.edu 37 12 67691275 67691275 + Missense_Mutation SNP A A G TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr12:67691275A>G ENST00000545606.1 + 5 1017 c.580A>G c.(580-582)Aga>Gga p.R194G NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 194 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) AGTGAGGAAAAGAACCATTAT 0.393000 12 93 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76433876 76433876 + Silent SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr17:76433876C>T ENST00000389840.5 - 74 11986 c.11862G>A c.(11860-11862)gaG>gaA p.E3954E DNAH17_ENST00000585328.1_Silent_p.E3955E|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CCCGGTAGTCCTCATGGCTGC 0.607000 20 102 0 0 1 0 0 SEMA6D 80031 broad.mit.edu 37 15 48056082 48056082 + Silent SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr15:48056082C>T ENST00000316364.5 + 10 1222 c.783C>T c.(781-783)aaC>aaT p.N261N SEMA6D_ENST00000558816.1_Silent_p.N261N|SEMA6D_ENST00000358066.4_Silent_p.N261N|SEMA6D_ENST00000389432.2_Silent_p.N261N|SEMA6D_ENST00000537942.1_Silent_p.N261N|SEMA6D_ENST00000389425.3_Silent_p.N261N|SEMA6D_ENST00000389428.3_Silent_p.N261N|SEMA6D_ENST00000536845.2_Silent_p.N261N|SEMA6D_ENST00000558014.1_Silent_p.N261N|SEMA6D_ENST00000355997.3_Silent_p.N261N|SEMA6D_ENST00000389433.2_Silent_p.N261N|SEMA6D_ENST00000354744.4_Silent_p.N261N NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 261 Sema. axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TATGTAAAAACGACATGGGTG 0.483000 7 209 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49218695 49218695 + Silent SNP G G A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr20:49218695G>A ENST00000327979.2 - 13 1972 c.1561C>T c.(1561-1563)Ctg>Ttg p.L521L FAM65C_ENST00000045083.2_Silent_p.L521L|FAM65C_ENST00000535356.1_Silent_p.L525L Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 521 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGCAACTCCAGGACCTCCTGC 0.701000 7 61 0 0 1 0 0 HLF 3131 broad.mit.edu 37 17 53345371 53345371 + Silent SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr17:53345371C>T ENST00000226067.5 + 2 848 c.375C>T c.(373-375)gaC>gaT p.D125D HLF_ENST00000575345.1_Silent_p.D40D|HLF_ENST00000430986.2_Silent_p.D40D|HLF_ENST00000573945.1_Silent_p.D40D NM_002126.4 NP_002117.1 Q16534 HLF_HUMAN hepatic leukemia factor 125 multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(2) 3 CGGTCATGGACCTCAGCAGCC 0.617000 T TCF3 ALL 75 243 0 0 1 0 0 APOL2 23780 broad.mit.edu 37 22 36623688 36623688 + Missense_Mutation SNP C C G TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr22:36623688C>G ENST00000249066.6 - 6 1252 c.776G>C c.(775-777)aGg>aCg p.R259T APOL2_ENST00000451256.2_Missense_Mutation_p.R371T|APOL2_ENST00000358502.5_Missense_Mutation_p.R259T NM_145637.1 NP_663612.1 Q9BQE5 APOL2_HUMAN apolipoprotein L, 2 259 acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development endoplasmic reticulum membrane|extracellular region high-density lipoprotein particle binding|lipid binding|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2) 9 TTCAACAACCCTCTCAACCTG 0.587000 20 206 0 0 1 0 0 CD177 57126 broad.mit.edu 37 19 43865691 43865691 + RNA SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr19:43865691C>T ENST00000378009.4 + 0 1202 CTC-490G23.4_ENST00000607109.1_RNA|CD177_ENST00000607517.1_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) GCCCCAGGGGCGCCACTCATT 0.617000 3 36 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53311280 53311280 + Missense_Mutation SNP T T C TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr19:53311280T>C ENST00000457749.2 - 3 241 c.122A>G c.(121-123)tAt>tGt p.Y41C ZNF28_ENST00000339844.6_Missense_Mutation_p.Y5C|ZNF28_ENST00000594602.1_Missense_Mutation_p.Y41C|ZNF28_ENST00000414252.2_Intron|ZNF28_ENST00000360272.4_5'UTR|ZNF28_ENST00000464469.2_5'UTR NM_006969.3 NP_008900.3 P17035 ZNF28_HUMAN zinc finger protein 28 41 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) CAGGTTCCTATAATTCTCCAG 0.498000 35 149 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79985363 79985363 + Missense_Mutation SNP G G T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr9:79985363G>T ENST00000360280.3 + 65 9036 c.8776G>T c.(8776-8778)Ggt>Tgt p.G2926C VPS13A_ENST00000376636.3_Missense_Mutation_p.G2887C|VPS13A_ENST00000376634.4_Missense_Mutation_p.G2926C|VPS13A_ENST00000357409.5_Missense_Mutation_p.G2926C NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 2926 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CAAAATCACCGGTGCTATGGC 0.428000 3 72 0.115264 0.116302 1 1 0 TSHZ3 57616 broad.mit.edu 37 19 31768019 31768019 + Missense_Mutation SNP G G A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr19:31768019G>A ENST00000240587.4 - 2 3007 c.2680C>T c.(2680-2682)Cgc>Tgc p.R894C NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 894 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TTTGACTGGCGGCCCTTCCTC 0.602000 8 106 0 0 1 0 0 LOC728323 728323 broad.mit.edu 37 2 243037115 243037115 + RNA SNP A A G TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr2:243037115A>G ENST00000456398.1 + 0 247 GGCTGGAAGAATTGTGAATCT 0.398000 3 66 0 0 1 0 0 HMGCS1 3157 broad.mit.edu 37 5 43298662 43298662 + Missense_Mutation SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr5:43298662C>T ENST00000325110.6 - 3 612 c.406G>A c.(406-408)Gtc>Atc p.V136I HMGCS1_ENST00000433297.2_Missense_Mutation_p.V136I NM_001098272.2 NP_001091742.1 Q01581 HMCS1_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 136 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1) 15 GCATTGAAGACAGCAGCTGTG 0.433000 15 57 0 0 1 0 0 QPCTL 54814 broad.mit.edu 37 19 46206195 46206195 + Missense_Mutation SNP T T A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr19:46206195T>A ENST00000012049.5 + 7 1258 c.1037T>A c.(1036-1038)tTc>tAc p.F346Y QPCTL_ENST00000366382.4_Missense_Mutation_p.F252Y NM_017659.3 NP_060129.2 Q9NXS2 QPCTL_HUMAN glutaminyl-peptide cyclotransferase-like 346 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis Golgi membrane|integral to membrane acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1) 11 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208) TCCACGCCCTTCCCTGCTGTC 0.597000 14 244 0 0 1 0 0 CRMP1 1400 broad.mit.edu 37 4 5862777 5862777 + Missense_Mutation SNP G G C TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr4:5862777G>C ENST00000324989.7 - 3 719 c.631C>G c.(631-633)Ctg>Gtg p.L211V CRMP1_ENST00000397890.2_Missense_Mutation_p.L97V|CRMP1_ENST00000512574.1_Missense_Mutation_p.L95V|CRMP1_ENST00000511535.1_5'UTR NM_001014809.1 NP_001014809.1 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 97 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) CCGCCCACCAGTGCCGCCCTG 0.572000 19 82 0 0 1 0 0 TMEM246 84302 broad.mit.edu 37 9 104238690 104238690 + Missense_Mutation SNP G G A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr9:104238690G>A ENST00000374851.1 - 4 1832 c.685C>T c.(685-687)Cgg>Tgg p.R229W TMEM246_ENST00000374847.1_Missense_Mutation_p.R229W|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.R229W|RP11-490D19.6_ENST00000431507.1_RNA Q9BRR3 CI125_HUMAN transmembrane protein 246 229 integral to membrane AAGCGAGCCCGCAGAAGGTGC 0.542000 7 100 0 0 1 0 0 CRMP1 1400 broad.mit.edu 37 4 5862776 5862776 + Missense_Mutation SNP A A G TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr4:5862776A>G ENST00000324989.7 - 3 720 c.632T>C c.(631-633)cTg>cCg p.L211P CRMP1_ENST00000397890.2_Missense_Mutation_p.L97P|CRMP1_ENST00000512574.1_Missense_Mutation_p.L95P|CRMP1_ENST00000511535.1_5'UTR NM_001014809.1 NP_001014809.1 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 97 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) CCCGCCCACCAGTGCCGCCCT 0.572000 19 80 0 0 1 0 0 ZNF829 374899 broad.mit.edu 37 19 37383112 37383112 + Missense_Mutation SNP C C A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr19:37383112C>A ENST00000520965.1 - 6 890 c.824G>T c.(823-825)aGt>aTt p.S275I ZNF829_ENST00000391711.3_Missense_Mutation_p.S194I|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron NM_001171979.1 NP_001165450.1 Q3KNS6 ZN829_HUMAN zinc finger protein 829 194 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGAGCCACGACTAAAGGACTT 0.368000 4 40 0.150653 0.150653 1 1 0 HKDC1 80201 broad.mit.edu 37 10 71008250 71008250 + Missense_Mutation SNP G G A rs61756700 TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr10:71008250G>A ENST00000354624.5 + 10 1469 c.1336G>A c.(1336-1338)Gag>Aag p.E446K HKDC1_ENST00000395086.2_Missense_Mutation_p.E446K|HKDC1_ENST00000488706.1_3'UTR NM_025130.3 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 446 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 CCTCCTGTCAGAGAGTGGCAG 0.602000 9 132 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73270923 73270923 + Missense_Mutation SNP A A G TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr10:73270923A>G ENST00000224721.6 + 5 388 c.383A>G c.(382-384)aAc>aGc p.N128S CDH23_ENST00000398809.4_Missense_Mutation_p.N128S|CDH23_ENST00000299366.7_Missense_Mutation_p.N173S|CDH23_ENST00000398842.3_Missense_Mutation_p.N128S|CDH23_ENST00000461841.3_Missense_Mutation_p.N173S|CDH23-AS1_ENST00000428918.1_RNA NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 128 Cadherin 1. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GTGAATGACAACGCGCCCACA 0.577000 30 190 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45131187 45131187 + Missense_Mutation SNP G G A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr20:45131187G>A ENST00000457685.2 - 6 2000 c.677C>T c.(676-678)cCg>cTg p.P226L ZNF334_ENST00000347606.4_Missense_Mutation_p.P264L|ZNF334_ENST00000593880.1_Missense_Mutation_p.P287L Q9HCZ1 ZN334_HUMAN zinc finger protein 334 264 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) ACAAACATACGGTTTCTCCCC 0.398000 5 100 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65188433 65188433 + Missense_Mutation SNP G G T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr4:65188433G>T ENST00000381210.3 - 4 519 c.409C>A c.(409-411)Cta>Ata p.L137I TECRL_ENST00000507440.1_Missense_Mutation_p.L137I NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 137 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 TGTTGACCTAGGTCTGTAGCA 0.323000 5 38 8.12818e-05 8.83841e-05 1 1 0 RPL22L1 200916 broad.mit.edu 37 3 170587949 170587949 + Splice_Site SNP G G A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr3:170587949G>A ENST00000295830.8 - 1 323 c.8C>T c.(7-9)cCg>cTg p.P3L RPL22L1_ENST00000463836.1_Splice_Site_p.P3L NM_001099645.1 NP_001093115.1 Q6P5R6 RL22L_HUMAN ribosomal protein L22-like 1 3 translation ribosome structural constituent of ribosome kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1) 4 all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) CTCACTCACCGGCGCCATCTT 0.552000 12 71 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204943867 204943867 + Missense_Mutation SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr1:204943867C>T ENST00000367172.4 + 14 1802 c.1474C>T c.(1474-1476)Cgc>Tgc p.R492C NFASC_ENST00000338515.6_Missense_Mutation_p.R492C|NFASC_ENST00000367169.4_Missense_Mutation_p.R492C|NFASC_ENST00000513543.1_Missense_Mutation_p.R503C|NFASC_ENST00000338586.6_Missense_Mutation_p.R492C|NFASC_ENST00000360049.4_Missense_Mutation_p.R503C|NFASC_ENST00000403080.1_Missense_Mutation_p.R492C|NFASC_ENST00000401399.1_Missense_Mutation_p.R492C|NFASC_ENST00000404076.1_Missense_Mutation_p.R486C|NFASC_ENST00000339876.6_Missense_Mutation_p.R492C|NFASC_ENST00000539706.1_Missense_Mutation_p.R503C|NFASC_ENST00000367171.4_Missense_Mutation_p.R492C|NFASC_ENST00000367170.4_Missense_Mutation_p.R492C|NFASC_ENST00000404907.1_Missense_Mutation_p.R503C O94856 NFASC_HUMAN neurofascin 492 Ig-like C2-type 5. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding p.R492S(2)|p.R503C(1)|p.R503S(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TAAGATGATCCGCAAAGAGGA 0.507000 12 186 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142574898 142574898 + Missense_Mutation SNP A A G TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr7:142574898A>G ENST00000359396.3 - 4 729 c.484T>C c.(484-486)Ttt>Ctt p.F162L RP11-114L10.2_ENST00000438839.1_RNA NM_018646.3 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 162 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) ctctCACCAAAGTAGATGAGG 0.627000 15 65 0 0 1 0 0 LEFTY2 7044 broad.mit.edu 37 1 226125381 226125381 + Silent SNP G G T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr1:226125381G>T ENST00000366820.5 - 4 1209 c.861C>A c.(859-861)ggC>ggA p.G287G LEFTY2_ENST00000420304.2_Silent_p.G253G NM_003240.3 NP_003231.2 O00292 LFTY2_HUMAN left-right determination factor 2 287 cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway extracellular space|platelet alpha granule lumen cytokine activity|growth factor activity|transforming growth factor beta receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(184;0.197) AAGCCAGGAAGCCCGGGGGCT 0.642000 6 59 5.9392e-07 6.78766e-07 1 1 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr1:142713774A>G ENST00000610091.1 - 0 1884 CTTTTTCCACATTGTCATTTT 0.284000 5 34 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34100917 34100917 + Silent SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr6:34100917C>T ENST00000538487.2 - 2 800 c.357G>A c.(355-357)tcG>tcA p.S119S GRM4_ENST00000374177.3_Intron|GRM4_ENST00000374181.4_Silent_p.S119S NM_000841.2|NM_001256811.1 NP_000832.1|NP_001243740.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) CAAAGGTCAGCGACTGCTCGA 0.627000 4 39 0 0 1 0 0 PMM2 5373 broad.mit.edu 37 16 8891772 8891772 + Silent SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr16:8891772C>T ENST00000268261.4 + 1 99 c.33C>T c.(31-33)ttC>ttT p.F11F PMM2_ENST00000566983.1_Intron|PMM2_ENST00000539622.1_5'UTR|PMM2_ENST00000569958.1_Silent_p.F11F|PMM2_ENST00000537352.1_5'UTR NM_000303.2 NP_000294.1 O15305 PMM2_HUMAN phosphomannomutase 2 11 F -> C (in CDG1A). dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol phosphomannomutase activity breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1) 9 TCTGCCTCTTCGACGTGGATG 0.682000 4 35 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58141789 58141789 + Missense_Mutation SNP T T G TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr3:58141789T>G ENST00000295956.4 + 41 7040 c.6875T>G c.(6874-6876)gTt>gGt p.V2292G FLNB_ENST00000358537.3_Missense_Mutation_p.V2268G|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000429972.2_Missense_Mutation_p.V2281G|FLNB_ENST00000419752.2_Missense_Mutation_p.V2112G|FLNB_ENST00000348383.5_Missense_Mutation_p.V2251G|FLNB_ENST00000490882.1_Missense_Mutation_p.V2323G|FLNB_ENST00000493452.1_Missense_Mutation_p.V2099G NM_001457.3 NP_001448.2 O75369 FLNB_HUMAN filamin B, beta 2292 Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CGCCTCACTGTTATGAGCCTT 0.587000 12 70 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123066746 123066746 + Missense_Mutation SNP C C G rs139672003 TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr3:123066746C>G ENST00000462833.1 - 3 2501 c.1289G>C c.(1288-1290)cGg>cCg p.R430P ADCY5_ENST00000491190.1_Missense_Mutation_p.R63P|ADCY5_ENST00000309879.5_Missense_Mutation_p.R80P NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 430 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) CAGCAGGAGCCGTTCCTGCAG 0.557000 29 294 0 0 1 0 0 FBXO41 150726 broad.mit.edu 37 2 73493785 73493785 + Silent SNP G G A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr2:73493785G>A ENST00000521871.1 - 3 1346 c.931C>T c.(931-933)Ctg>Ttg p.L311L FBXO41_ENST00000295133.5_Silent_p.L372L|FBXO41_ENST00000520530.2_Silent_p.L311L Q8TF61 FBX41_HUMAN F-box protein 41 311 intracellular protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1) 13 GTCTCCTTCAGGAACTGGTCG 0.677000 18 92 0 0 1 0 0 S1PR5 53637 broad.mit.edu 37 19 10624575 10624575 + Silent SNP G G A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr19:10624575G>A ENST00000439028.3 - 2 1238 c.1113C>T c.(1111-1113)gaC>gaT p.D371D S1PR5_ENST00000333430.4_Silent_p.D371D NM_001166215.1 NP_001159687.1 Q9H228 S1PR5_HUMAN sphingosine-1-phosphate receptor 5 371 integral to membrane|plasma membrane lysosphingolipid and lysophosphatidic acid receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 12 TGTCCAGCCCGTCGCGCTGGG 0.736000 10 64 0 0 1 0 0 KDM3A 55818 broad.mit.edu 37 2 86701912 86701912 + Missense_Mutation SNP A A G TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr2:86701912A>G ENST00000409556.1 + 13 2103 c.1738A>G c.(1738-1740)Aaa>Gaa p.K580E KDM3A_ENST00000542128.1_Missense_Mutation_p.K528E|KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000409064.1_Missense_Mutation_p.K580E|KDM3A_ENST00000312912.5_Missense_Mutation_p.K580E Q9Y4C1 KDM3A_HUMAN lysine (K)-specific demethylase 3A 580 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 47 ACAATTCAACAAACATGGTGT 0.413000 12 91 0 0 1 0 0 DLG1 1739 broad.mit.edu 37 3 197024064 197024064 + Silent SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr3:197024064C>T ENST00000346964.2 - 2 201 c.12G>A c.(10-12)cgG>cgA p.R4R DLG1_ENST00000392382.2_Silent_p.R4R|DLG1_ENST00000448528.2_Silent_p.R4R|DLG1_ENST00000450955.1_Silent_p.R4R|DLG1_ENST00000357674.4_Silent_p.R4R|DLG1_ENST00000419354.1_Silent_p.R4R|DLG1_ENST00000422288.1_Silent_p.R4R|DLG1_ENST00000314062.3_Silent_p.R4R NM_004087.2 NP_004078.2 Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) 4 L27. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) CACCTTGCTTCCGGACCGGCA 0.408000 6 28 0 0 1 0 0 CAPN7 23473 broad.mit.edu 37 3 15262300 15262300 + Silent SNP G G A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr3:15262300G>A ENST00000253693.2 + 5 703 c.450G>A c.(448-450)ctG>ctA p.L150L NM_014296.2 NP_055111.1 Q9Y6W3 CAN7_HUMAN calpain 7 150 proteolysis nucleus calcium-dependent cysteine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2) 22 CAGAAGCGCTGAGTGAGCCTT 0.428000 10 56 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10473957 10473957 + Splice_Site SNP G G A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr8:10473957G>A ENST00000382483.3 - 3 973 c.750C>T c.(748-750)aaC>aaT p.N250N NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 250 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CCAACTCACCGTTTTTGTTTC 0.498000 20 109 0 0 1 0 0 XRN2 22803 broad.mit.edu 37 20 21335466 21335466 + Missense_Mutation SNP G G A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr20:21335466G>A ENST00000377191.3 + 21 2071 c.1976G>A c.(1975-1977)cGa>cAa p.R659Q XRN2_ENST00000539513.1_Missense_Mutation_p.R605Q|XRN2_ENST00000430571.2_Missense_Mutation_p.R583Q NM_012255.3 NP_036387.2 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 659 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5) 39 CGAAGGCTACGAGCTGCCCTA 0.418000 7 29 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5215324 5215324 + Missense_Mutation SNP G G A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr19:5215324G>A ENST00000372412.4 - 28 4530 c.4297C>T c.(4297-4299)Cgt>Tgt p.R1433C PTPRS_ENST00000588012.1_Missense_Mutation_p.R1394C|PTPRS_ENST00000587303.1_Missense_Mutation_p.R1432C|PTPRS_ENST00000592099.1_Missense_Mutation_p.R985C|PTPRS_ENST00000348075.2_Missense_Mutation_p.R1394C|PTPRS_ENST00000353284.2_Missense_Mutation_p.R985C|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1432C|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.R1412C Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1432 Tyrosine-protein phosphatase 1. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) AGGATGACACGGGAGTGGTCA 0.552000 32 111 0 0 1 0 0 APOBEC3A 200315 broad.mit.edu 37 22 39355616 39355616 + Silent SNP G G A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr22:39355616G>A ENST00000402255.1 + 3 303 c.99G>A c.(97-99)ctG>ctA p.L33L APOBEC3A_ENST00000249116.2_Silent_p.L33L apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 Melanoma(58;0.04) AGACCTACCTGTGCTACGAAG 0.527000 7 114 0 0 1 0 0 STAU2 27067 broad.mit.edu 37 8 74495042 74495042 + Missense_Mutation SNP A A T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr8:74495042A>T ENST00000355780.5 - 11 1307 c.1089T>A c.(1087-1089)agT>agA p.S363R STAU2_ENST00000524300.1_Missense_Mutation_p.S395R|STAU2_ENST00000521210.1_Missense_Mutation_p.S291R|STAU2_ENST00000523558.1_Missense_Mutation_p.S223R|STAU2_ENST00000517542.1_Missense_Mutation_p.S357R|STAU2_ENST00000522695.1_Missense_Mutation_p.S363R|STAU2_ENST00000521451.1_Missense_Mutation_p.S175R|STAU2_ENST00000519961.1_Missense_Mutation_p.S395R|STAU2_ENST00000522509.1_Missense_Mutation_p.S363R|STAU2_ENST00000521727.1_Missense_Mutation_p.S375R NM_014393.2 NP_055208.2 Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 395 DRBM 4. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) GCTTTGGACCACTCCATCCTT 0.373000 12 99 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185878634 185878634 + Missense_Mutation SNP C C G TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr1:185878634C>G ENST00000271588.4 + 5 1016 c.787C>G c.(787-789)Cct>Gct p.P263A HMCN1_ENST00000367492.2_Missense_Mutation_p.P263A NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 263 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AATTCGCAATCCTTTAGGTGA 0.363000 5 27 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 3 38 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41554073 41554073 + Missense_Mutation SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr8:41554073C>T ENST00000396942.1 - 26 2851 c.2768G>A c.(2767-2769)gGt>gAt p.G923D ANK1_ENST00000379758.2_Missense_Mutation_p.G923D|ANK1_ENST00000289734.7_Missense_Mutation_p.G923D|ANK1_ENST00000396945.1_Missense_Mutation_p.G923D|ANK1_ENST00000352337.4_Missense_Mutation_p.G923D|ANK1_ENST00000347528.4_Missense_Mutation_p.G923D|ANK1_ENST00000265709.8_Missense_Mutation_p.G964D P16157 ANK1_HUMAN ankyrin 1, erythrocytic 923 ZU5. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CATGGAACCACCCCGGGCGTC 0.647000 14 81 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22383399 22383399 + Silent SNP A A G TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr15:22383399A>G ENST00000328795.4 + 1 1018 c.927A>G c.(925-927)caA>caG p.Q309Q RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TAGTCTGTCAAGTGGATTTTA 0.383000 8 92 0 0 1 0 0 IL20RA 53832 broad.mit.edu 37 6 137323449 137323449 + Missense_Mutation SNP G G C TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr6:137323449G>C ENST00000367748.1 - 6 1161 c.575C>G c.(574-576)cCt>cGt p.P192R IL20RA_ENST00000541547.1_Missense_Mutation_p.P254R|IL20RA_ENST00000316649.5_Missense_Mutation_p.P303R NM_001278723.1 NP_001265652.1 Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha 303 Fibronectin type-III 2. integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) TTTTTCAGCAGGCACAAAGAA 0.308000 5 29 0 0 1 0 0 HNRNPH3 3189 broad.mit.edu 37 10 70100979 70100979 + Missense_Mutation SNP G G A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr10:70100979G>A ENST00000265866.7 + 7 853 c.688G>A c.(688-690)Gat>Aat p.D230N HNRNPH3_ENST00000354695.5_Missense_Mutation_p.D215N|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.D122N|HNRNPH3_ENST00000469172.1_3'UTR NM_012207.2|NM_021644.3 NP_036339.1|NP_067676.2 P31942 HNRH3_HUMAN heterogeneous nuclear ribonucleoprotein H3 (2H9) 230 Gly-rich.|RRM 2. nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex nucleotide binding|protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2) 11 TATTGGAGCTGATGGCAGAGC 0.353000 6 70 0 0 1 0 0 GRIN1 2902 broad.mit.edu 37 9 140058396 140058396 + Missense_Mutation SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr9:140058396C>T ENST00000350902.5 + 18 2706 c.2629C>T c.(2629-2631)Cgg>Tgg p.R877W GRIN1_ENST00000371553.3_Intron|GRIN1_ENST00000371561.3_Intron|GRIN1_ENST00000371559.4_Intron|GRIN1_ENST00000371560.3_Intron|GRIN1_ENST00000371546.4_Intron|GRIN1_ENST00000371550.4_Intron|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000315048.3_Intron|GRIN1_ENST00000371555.4_Intron Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 0 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) GCCCAGGGCCCGGCCTGGCCA 0.697000 19 49 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95201429 95201429 + Missense_Mutation SNP G G T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr8:95201429G>T ENST00000027335.3 - 3 260 c.136C>A c.(136-138)Caa>Aaa p.Q46K CDH17_ENST00000441892.2_Missense_Mutation_p.Q46K|CDH17_ENST00000450165.2_Missense_Mutation_p.Q46K NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 46 Cadherin 1. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) AATATAATTTGACTCGGTTCT 0.398000 6 40 0.00116845 0.00122305 1 1 0 FBXO41 150726 broad.mit.edu 37 2 73493786 73493786 + Silent SNP G G A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr2:73493786G>A ENST00000521871.1 - 3 1345 c.930C>T c.(928-930)ttC>ttT p.F310F FBXO41_ENST00000295133.5_Silent_p.F371F|FBXO41_ENST00000520530.2_Silent_p.F310F Q8TF61 FBX41_HUMAN F-box protein 41 310 intracellular protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1) 13 TCTCCTTCAGGAACTGGTCGA 0.682000 18 93 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21939680 21939680 + Silent SNP G G A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr7:21939680G>A ENST00000328843.6 + 82 13297 c.13266G>A c.(13264-13266)aaG>aaA p.K4422K DNAH11_ENST00000409508.3_Silent_p.K4415K Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4422 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AAAAAACAAAGGAAGATTATG 0.468000 Kartagener syndrome 3 41 0 0 1 0 0 KGFLP2 654466 broad.mit.edu 37 9 41962602 41962602 + RNA SNP G G C TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr9:41962602G>C ENST00000454645.1 - 0 902 NR_003670.1 TTCTTTCTTTGTTTTTTTTCC 0.373000 4 37 0 0 1 0 0 ISLR2 57611 broad.mit.edu 37 15 74426979 74426979 + Missense_Mutation SNP C C G TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr15:74426979C>G ENST00000361742.3 + 4 2653 c.1884C>G c.(1882-1884)atC>atG p.I628M ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.I628M|ISLR2_ENST00000419208.1_Missense_Mutation_p.I628M|ISLR2_ENST00000565540.1_Missense_Mutation_p.I628M|ISLR2_ENST00000445793.1_Missense_Mutation_p.I628M|ISLR2_ENST00000453268.2_Missense_Mutation_p.I628M|ISLR2_ENST00000435464.1_Missense_Mutation_p.I628M NM_001130136.1|NM_020851.2 NP_001123608.1|NP_065902.1 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing leucine-rich repeat 2 628 positive regulation of axon extension cell surface|integral to membrane|plasma membrane breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 ACCGTCTGATCCTGCGGCCTC 0.652000 OREG0023277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 100 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116398618 116398618 + Silent SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr7:116398618C>T ENST00000397752.3 + 9 2408 c.2208C>T c.(2206-2208)ttC>ttT p.F736F MET_ENST00000436117.2_Silent_p.F736F|MET_ENST00000318493.6_Silent_p.F736F NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 736 IPT/TIG 2. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CAAGCATCTTCAGTTACCGTG 0.358000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 7 44 0 0 1 0 0 DLG1 1739 broad.mit.edu 37 3 197024065 197024065 + Missense_Mutation SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr3:197024065C>T ENST00000346964.2 - 2 200 c.11G>A c.(10-12)cGg>cAg p.R4Q DLG1_ENST00000392382.2_Missense_Mutation_p.R4Q|DLG1_ENST00000448528.2_Missense_Mutation_p.R4Q|DLG1_ENST00000450955.1_Missense_Mutation_p.R4Q|DLG1_ENST00000357674.4_Missense_Mutation_p.R4Q|DLG1_ENST00000419354.1_Missense_Mutation_p.R4Q|DLG1_ENST00000422288.1_Missense_Mutation_p.R4Q|DLG1_ENST00000314062.3_Missense_Mutation_p.R4Q NM_004087.2 NP_004078.2 Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) 4 L27. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) ACCTTGCTTCCGGACCGGCAT 0.413000 6 28 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 108518238 108518238 + Nonsense_Mutation SNP G G T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr13:108518238G>T ENST00000375915.2 - 1 845 c.707C>A c.(706-708)tCg>tAg p.S236* NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 236 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 GGACAACCCCGAGAACAACTC 0.537000 38 174 1.08052e-11 1.27388e-11 1 1 0 WNK2 65268 broad.mit.edu 37 9 96021712 96021712 + Missense_Mutation SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr9:96021712C>T ENST00000297954.4 + 11 2882 c.2882C>T c.(2881-2883)aCg>aTg p.T961M WNK2_ENST00000395477.2_Missense_Mutation_p.T961M|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.T573M|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.T573M NM_001282394.1 NP_001269323.1 Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 961 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CCGCAACCCACGCTGCCCCCT 0.692000 3 12 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138576674 138576674 + Missense_Mutation SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr6:138576674C>T ENST00000251691.4 + 10 1038 c.872C>T c.(871-873)tCg>tTg p.S291L NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 291 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) AGCCTGGAGTCGGACTCTGCG 0.582000 10 125 0 0 1 0 0 ATP6V1C2 245973 broad.mit.edu 37 2 10908879 10908879 + Missense_Mutation SNP G G A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr2:10908879G>A ENST00000381661.3 + 6 522 c.413G>A c.(412-414)cGa>cAa p.R138Q RP11-791G15.2_ENST00000606907.1_lincRNA|ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.R138Q NM_144583.3 NP_653184.2 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 138 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) CTGAAGTCCCGAACGGCCGCC 0.522000 10 119 0 0 1 0 0 APEH 327 broad.mit.edu 37 3 49720139 49720139 + Missense_Mutation SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr3:49720139C>T ENST00000296456.5 + 19 2253 c.1853C>T c.(1852-1854)tCc>tTc p.S618F APEH_ENST00000438011.1_Missense_Mutation_p.S618F NM_001640.3 NP_001631.3 P13798 ACPH_HUMAN acylaminoacyl-peptide hydrolase 618 proteolysis cytoplasm|nuclear membrane serine-type endopeptidase activity endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AACATCGCCTCCATGTTGGGC 0.587000 20 140 0 0 1 0 0 ZNF611 81856 broad.mit.edu 37 19 53208600 53208600 + Missense_Mutation SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr19:53208600C>T ENST00000543227.1 - 6 1982 c.1708G>A c.(1708-1710)Gag>Aag p.E570K ZNF611_ENST00000540744.1_Missense_Mutation_p.E570K|ZNF611_ENST00000453741.2_Missense_Mutation_p.E501K|ZNF611_ENST00000602162.1_Missense_Mutation_p.E501K|ZNF611_ENST00000319783.1_Missense_Mutation_p.E570K|ZNF611_ENST00000595798.1_Missense_Mutation_p.E501K NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 570 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TTGCTGCACTCATTACACTTG 0.408000 9 235 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77779435 77779435 + Missense_Mutation SNP G G A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr13:77779435G>A ENST00000407578.2 - 26 4065 c.3799C>T c.(3799-3801)Ctt>Ttt p.L1267F MYCBP2_ENST00000544440.2_Missense_Mutation_p.L1229F|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L1229F NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 1229 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AACAGACCAAGACCACCAAGT 0.373000 5 42 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71508818 71508818 + Missense_Mutation SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr4:71508818C>T ENST00000396073.3 + 9 1956 c.1675C>T c.(1675-1677)Cat>Tat p.H559Y ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 559 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) TGCAAAAGAACATTTTCCTGC 0.433000 16 154 0 0 1 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44802511 44802511 + Missense_Mutation SNP G G A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr7:44802511G>A ENST00000309315.4 + 12 1751 c.1628G>A c.(1627-1629)cGc>cAc p.R543H ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R485H|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R517H|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R543H|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R511H NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 543 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CTAGTGCACCGCCCATCCGTC 0.637000 47 587 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123452617 123452617 + Missense_Mutation SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr3:123452617C>T ENST00000360772.3 - 11 1604 c.1226G>A c.(1225-1227)aGg>aAg p.R409K MYLK_ENST00000360304.3_Missense_Mutation_p.R409K|MYLK_ENST00000359169.1_Missense_Mutation_p.R409K|MYLK_ENST00000346322.5_Missense_Mutation_p.R409K|MYLK_ENST00000475616.1_Missense_Mutation_p.R409K Q15746 MYLK_HUMAN myosin light chain kinase 409 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TGCTGAATCCCTCTGGCCCTC 0.542000 28 159 0 0 1 0 0 APEH 327 broad.mit.edu 37 3 49720140 49720140 + Silent SNP C C T TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr3:49720140C>T ENST00000296456.5 + 19 2254 c.1854C>T c.(1852-1854)tcC>tcT p.S618S APEH_ENST00000438011.1_Silent_p.S618S NM_001640.3 NP_001631.3 P13798 ACPH_HUMAN acylaminoacyl-peptide hydrolase 618 proteolysis cytoplasm|nuclear membrane serine-type endopeptidase activity endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) ACATCGCCTCCATGTTGGGCT 0.587000 20 139 0 0 1 0 0 SLAMF1 6504 broad.mit.edu 37 1 160589601 160589601 + Frame_Shift_Del DEL T T - TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr1:160589601delT ENST00000302035.6 - 5 1178 c.829delA c.(829-831)agcfs p.S277fs SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs|SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs|SLAMF1_ENST00000538290.1_Intron NM_003037.2 NP_003028.1 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family member 1 277 interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) ATCGTAAGGCTTTTTTTTTCC 0.433 7 167 --- --- --- --- LRRFIP1 9208 broad.mit.edu 37 2 238668850 238668851 + Splice_Site INS - - AG TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr2:238668850_238668851insAG ENST00000244815.5 + 9 1057 c.e9+2 LRRFIP1_ENST00000308482.9_Splice_Site|LRRFIP1_ENST00000289175.6_Splice_Site|LRRFIP1_ENST00000392000.4_Splice_Site NM_004735.3 NP_004726.2 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting protein 1 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 29 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) GGACCCTAGGTAAGTATTTGCT 0.505 8 34 --- --- --- --- EMC3-AS1 442075 broad.mit.edu 37 3 10035779 10035783 + RNA DEL AGTCT AGTCT - rs35714562 TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr3:10035779_10035783delAGTCT ENST00000326237.3 + 0 354 GGGGAAGAGAAGTCTGATCTGACAT 0.380 7 50 --- --- --- --- OR2H2 7932 broad.mit.edu 37 6 29556126 29556126 + Frame_Shift_Del DEL C C - TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr6:29556126delC ENST00000383640.2 + 1 444 c.405delC c.(403-405)cacfs p.H135fs GABBR1_ENST00000355973.3_Intron NM_007160.3 NP_009091.3 O95918 OR2H2_HUMAN olfactory receptor, family 2, subfamily H, member 2 135 defense response|mating|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 14 CCATCATCCACCCCCGCCTGT 0.612 7 297 --- --- --- --- LINC00502 100874184 broad.mit.edu 37 10 92813180 92813180 + RNA DEL A A - rs111380766 TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr10:92813180delA ENST00000423621.1 + 0 264 TGGGCCTGATAAAAAAAAAGC 0.343 2 4 --- --- --- --- RXFP2 122042 broad.mit.edu 37 13 32376429 32376429 + Frame_Shift_Del DEL A A - TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr13:32376429delA ENST00000298386.2 + 18 2223 c.2152delA c.(2152-2154)aaafs p.K720fs RXFP2_ENST00000380314.1_Frame_Shift_Del_p.K696fs NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 720 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TTTCAAAATTAAAAAAAAAAG 0.348 8 114 --- --- --- --- ZFP36L1 677 broad.mit.edu 37 14 69256543 69256544 + Frame_Shift_Ins INS - - A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr14:69256543_69256544insA ENST00000439696.2 - 2 1024_1025 c.723_724insT c.(721-726)cctaccfs p.T242fs ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.T242fs NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 242 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T242A(1) breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TCGGGCAGGGTAGGTGAGCCCA 0.678 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 292 --- --- --- --- ZFP36L1 677 broad.mit.edu 37 14 69257035 69257036 + Frame_Shift_Ins INS - - GG TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr14:69257035_69257036insGG ENST00000439696.2 - 2 532_533 c.231_232insCC c.(229-234)cccgctfs p.A78fs ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.A78fs NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 78 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P77fs*67(1) breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GAGCTCAGAGCGGGGGCTGGCT 0.688 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 59 --- --- --- --- HERC2P2 400322 broad.mit.edu 37 15 23312380 23312380 + RNA DEL T T - TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr15:23312380delT ENST00000560464.1 - 0 3118 TGTTAttttcttttttttttt 0.398 2 4 --- --- --- --- SLTM 79811 broad.mit.edu 37 15 59182525 59182526 + Frame_Shift_Del DEL TC TC - TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr15:59182525_59182526delTC ENST00000380516.2 - 15 2120_2121 c.2033_2034delGA c.(2032-2034)agafs p.R678fs AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Frame_Shift_Del_p.R247fs NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 678 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CGCGTTCCATTCTCTCTCTCTC 0.431 7 227 --- --- --- --- DIS3L 115752 broad.mit.edu 37 15 66587463 66587464 + Frame_Shift_Ins INS - - A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr15:66587463_66587464insA ENST00000319194.5 + 2 289_290 c.28_29insA c.(28-30)catfs p.H10fs DIS3L_ENST00000441424.2_5'UTR|DIS3L_ENST00000319212.4_Frame_Shift_Ins_p.H93fs NM_133375.3 NP_588616.1 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 93 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AGCTGTGCAGCATCAAAGAGGC 0.450 8 109 --- --- --- --- ZNF57 126295 broad.mit.edu 37 19 2917370 2917370 + Frame_Shift_Del DEL C C - TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 155a5d7c-111f-4b4e-a53f-e1dc126e452f eee5f541-146e-422a-9e76-67553e23c6ee g.chr19:2917370delC ENST00000306908.5 + 4 899 c.751delC c.(751-753)ccafs p.P251fs AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Frame_Shift_Del_p.P219fs NM_173480.2 NP_775751.1 Q68EA5 ZNF57_HUMAN zinc finger protein 57 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) AAAAGACAGGCCATATAAATG 0.448 20 112 --- --- --- ---