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 LRRK2 120892 broad.mit.edu 37 12 40760879 40760879 + Splice_Site SNP G G A TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr12:40760879G>A ENST00000298910.7 + 50 7520 c.7462_splice c.e50+1 p.E2488_splice NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2488 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) AAAGCAGAAAGGTAACATTTA 0.318000 18 32 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210557510 210557510 + Missense_Mutation SNP A A C TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr2:210557510A>C ENST00000360351.4 + 7 1122 c.616A>C c.(616-618)Act>Cct p.T206P MAP2_ENST00000447185.1_Missense_Mutation_p.T202P|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 206 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GACAACTAAAACTTACCCTGA 0.458000 20 39 0 0 1 0 0 MAP3K19 80122 broad.mit.edu 37 2 135745259 135745259 + Nonsense_Mutation SNP G G A TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr2:135745259G>A ENST00000375845.3 - 7 1213 c.1183C>T c.(1183-1185)Caa>Taa p.Q395* MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.Q282*|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Nonsense_Mutation_p.Q412* NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 TGGGTTTCTTGGAACTTGCTT 0.343000 19 72 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 5 275 0 0 1 0 0 CYP1A1 1543 broad.mit.edu 37 15 75014760 75014760 + Missense_Mutation SNP C C T TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr15:75014760C>T ENST00000379727.3 - 2 877 c.679G>A c.(679-681)Gtg>Atg p.V227M CYP1A1_ENST00000564596.1_De_novo_Start_InFrame|CYP1A1_ENST00000395049.4_Missense_Mutation_p.V227M|CYP1A1_ENST00000395048.2_Missense_Mutation_p.V227M|CYP1A1_ENST00000567032.1_Missense_Mutation_p.V227M P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 1 227 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) GAGCCAACCACCTCCCCGAAA 0.493000 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 20 119 0 0 1 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555262 44555262 + Missense_Mutation SNP C C T TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr18:44555262C>T ENST00000330682.2 - 1 1187 c.952G>A c.(952-954)Gct>Act p.A318T KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 318 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 GGCATCTTAGCGTTCACTCTG 0.652000 35 328 0 0 1 0 0 NR3C2 0 broad.mit.edu 37 4 149356963 149356963 + Silent SNP A A G TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr4:149356963A>G ENST00000355292.3 - 2 1412 c.1050T>C c.(1048-1050)gcT>gcC p.A350A NR3C2_ENST00000512865.1_Silent_p.A350A|NR3C2_ENST00000511528.1_Silent_p.A350A|NR3C2_ENST00000358102.3_Silent_p.A350A|NR3C2_ENST00000344721.4_Silent_p.A350A|NR3C2_ENST00000342437.4_Silent_p.A350A P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 350 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) TACTGGATCCAGCAGAGGTGC 0.522000 25 67 0 0 1 0 0 LRRC15 131578 broad.mit.edu 37 3 194081584 194081584 + Silent SNP C C T TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr3:194081584C>T ENST00000347624.3 - 2 274 c.189G>A c.(187-189)acG>acA p.T63T LRRC15_ENST00000428839.1_Silent_p.T69T|LRRC15_ENST00000439944.2_Silent_p.T69T NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 63 integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) CAGTGATGTGCGTGTTGAGGA 0.612000 27 60 0 0 1 0 0 TMEM259 91304 broad.mit.edu 37 19 1011423 1011423 + Missense_Mutation SNP G G A TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr19:1011423G>A ENST00000356663.3 - 9 1281 c.1160C>T c.(1159-1161)gCg>gTg p.A387V TMEM259_ENST00000333175.5_Missense_Mutation_p.A387V NM_001033026.1 NP_001028198.1 transmembrane protein 259 ATACTGGTCCGCGAGCCACAC 0.652000 3 4 0 0 1 0 0 SLC10A2 6555 broad.mit.edu 37 13 103698525 103698525 + Silent SNP C C T TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr13:103698525C>T ENST00000245312.3 - 6 1601 c.1005G>A c.(1003-1005)tcG>tcA p.S335S NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 335 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CCTTATAAAACGATGACTCTG 0.368000 24 30 0 0 1 0 0 STRC 161497 broad.mit.edu 37 15 43896265 43896265 + Missense_Mutation SNP T T C TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr15:43896265T>C ENST00000450892.2 - 22 4381 c.4304A>G c.(4303-4305)gAg>gGg p.E1435G STRC_ENST00000541030.1_Missense_Mutation_p.E662G NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1435 sensory perception of sound cell surface skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) AAGCTGTGGCTCCCTACACAG 0.557000 6 20 0 0 1 0 0 MAGEB2 4113 broad.mit.edu 37 X 30236898 30236898 + Silent SNP C C A TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chrX:30236898C>A ENST00000378988.4 + 2 302 c.201C>A c.(199-201)acC>acA p.T67T NM_002364.4 NP_002355.2 O15479 MAGB2_HUMAN melanoma antigen family B, 2 67 protein binding breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 GAGCCCCAACCACTGCCGCTG 0.562000 5 9 0.014758 0.014758 1 1 0 AMER1 139285 broad.mit.edu 37 X 63410058 63410058 + Nonsense_Mutation SNP G G A TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chrX:63410058G>A ENST00000330258.3 - 2 3381 c.3109C>T c.(3109-3111)Cag>Tag p.Q1037* AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) GCCTGTGGCTGGAGGTTATAG 0.597000 3 21 0 0 1 0 0 EEF2K 29904 broad.mit.edu 37 16 22278135 22278135 + Missense_Mutation SNP G G A TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr16:22278135G>A ENST00000263026.5 + 15 2176 c.1702G>A c.(1702-1704)Gtg>Atg p.V568M NM_013302.3 NP_037434.1 O00418 EF2K_HUMAN eukaryotic elongation factor-2 kinase 568 insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) GGAGGCCATCGTGGGCCTGGG 0.652000 18 64 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625885 29625885 + Missense_Mutation SNP A A T TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr20:29625885A>T ENST00000278882.3 + 5 509 c.129A>T c.(127-129)aaA>aaT p.K43N FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N p.K43N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCGCCCTGAAATCTGGCTATG 0.353000 4 148 0 0 1 0 0 PLCD1 5333 broad.mit.edu 37 3 38050773 38050773 + Silent SNP G G A TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr3:38050773G>A ENST00000463876.1 - 10 2012 c.1659C>T c.(1657-1659)ctC>ctT p.L553L PLCD1_ENST00000334661.4_Silent_p.L532L NM_001130964.1 NP_001124436.1 P51178 PLCD1_HUMAN phospholipase C, delta 1 532 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) CTGATTCTTGGAGCAGTCGAA 0.612000 27 126 0 0 1 0 0 RHD 6007 broad.mit.edu 37 1 25627530 25627530 + Missense_Mutation SNP G G A TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr1:25627530G>A ENST00000328664.4 + 4 735 c.580G>A c.(580-582)Gga>Aga p.G194R RHD_ENST00000342055.5_Missense_Mutation_p.G194R|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000417538.2_Missense_Mutation_p.G194R|RHD_ENST00000568195.1_Missense_Mutation_p.G194R|RHD_ENST00000454452.2_Missense_Mutation_p.G194R|RHD_ENST00000423810.2_Missense_Mutation_p.G194R|RHD_ENST00000357542.4_Missense_Mutation_p.G194R NM_016124.3 NP_057208.2 Q02161 RHD_HUMAN Rh blood group, D antigen 194 integral to plasma membrane breast(2)|large_intestine(4)|lung(7)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCTACCCGAGGGAACGGAGGA 0.532000 48 46 0 0 1 0 0 PGM3 5238 broad.mit.edu 37 6 83896756 83896756 + Missense_Mutation SNP C C T rs80024877 TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr6:83896756C>T ENST00000513973.1 - 4 544 c.428G>A c.(427-429)gGt>gAt p.G143D PGM3_ENST00000506587.1_Missense_Mutation_p.G171D|PGM3_ENST00000512866.1_Missense_Mutation_p.G143D|PGM3_ENST00000283977.4_Missense_Mutation_p.G62D NM_001199918.1|NM_015599.2 NP_001186847.1|NP_056414.1 O95394 AGM1_HUMAN phosphoglucomutase 3 143 dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 18 all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068) BRCA - Breast invasive adenocarcinoma(397;0.0478) AACAGTCACACCATCTATTAC 0.343000 10 13 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167379743 167379743 + Missense_Mutation SNP C C A TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr5:167379743C>A ENST00000519204.1 + 3 618 c.500C>A c.(499-501)gCg>gAg p.A167E TENM2_ENST00000520394.1_Missense_Mutation_p.A97E|TENM2_ENST00000403607.2_Missense_Mutation_p.A121E|TENM2_ENST00000518659.1_Missense_Mutation_p.A288E|TENM2_ENST00000545108.1_Missense_Mutation_p.A288E|CTC-353G13.1_ENST00000523050.1_RNA|TENM2_ENST00000520393.1_3'UTR teneurin transmembrane protein 2 CCGGCCCCAGCGCCCAATGAC 0.622000 6 15 0.00116845 0.0012009 1 1 0 ANKRD50 57182 broad.mit.edu 37 4 125591785 125591785 + Missense_Mutation SNP G G T TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr4:125591785G>T ENST00000504087.1 - 4 3684 c.2647C>A c.(2647-2649)Cct>Act p.P883T ANKRD50_ENST00000515641.1_Missense_Mutation_p.P704T NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 883 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 AATATGAAAGGGATTCGTCCA 0.373000 24 90 6.44725e-10 6.81567e-10 1 1 0 CUBN 8029 broad.mit.edu 37 10 17130272 17130272 + Missense_Mutation SNP C C T TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr10:17130272C>T ENST00000377833.4 - 15 1903 c.1838G>A c.(1837-1839)gGa>gAa p.G613E NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 613 CUB 2. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACAATCTCTTCCTGGGGGATA 0.443000 6 56 0 0 1 0 0 FNDC5 252995 broad.mit.edu 37 1 33333378 33333378 + Missense_Mutation SNP C C T TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr1:33333378C>T ENST00000373471.3 - 4 541 c.250G>A c.(250-252)Gtc>Atc p.V84I NM_001171940.1|NM_153756.2 NP_001165411.1|NP_715637.1 Q8NAU1 FNDC5_HUMAN fibronectin type III domain containing 5 143 Fibronectin type-III. integral to membrane|peroxisomal membrane breast(1)|large_intestine(1)|lung(2)|ovary(1) 5 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) AGGACCACGACGATGATCAGC 0.552000 37 23 0 0 1 0 0 MRPL37 51253 broad.mit.edu 37 1 54681910 54681910 + Missense_Mutation SNP G G A TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr1:54681910G>A ENST00000605337.1 + 6 1135 c.1087G>A c.(1087-1089)Gac>Aac p.D363N MRPL37_ENST00000336230.6_Missense_Mutation_p.D232N|MRPL37_ENST00000360840.5_Missense_Mutation_p.D363N Q9BZE1 RM37_HUMAN mitochondrial ribosomal protein L37 363 translation mitochondrial ribosome structural constituent of ribosome NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2) 19 GAATACCACAGACCTGGACTG 0.512000 30 49 0 0 1 0 0 ANXA5 308 broad.mit.edu 37 4 122590823 122590823 + Missense_Mutation SNP A A C TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr4:122590823A>C ENST00000296511.5 - 12 1122 c.837T>G c.(835-837)atT>atG p.I279M ANXA5_ENST00000515017.1_Missense_Mutation_p.I179M|ANXA5_ENST00000501272.2_Missense_Mutation_p.I219M NM_001154.3 NP_001145.1 P08758 ANXA5_HUMAN annexin A5 279 I -> T (in Ref. 13; AAH18671). anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1) 15 TAAACAGATCAATCTCACTCC 0.358000 24 52 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35729358 35729358 + Missense_Mutation SNP T T C TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr3:35729358T>C ENST00000187397.4 + 6 845 c.389T>C c.(388-390)aTc>aCc p.I130T ARPP21_ENST00000417925.1_Missense_Mutation_p.I130T|ARPP21_ENST00000458225.1_Missense_Mutation_p.I130T|ARPP21_ENST00000444190.1_Missense_Mutation_p.I130T|ARPP21_ENST00000337271.5_Missense_Mutation_p.I130T NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 130 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 AAACCCAAGATCAGAATGTTA 0.338000 69 99 0 0 1 0 0 CHST3 9469 broad.mit.edu 37 10 73767358 73767358 + Missense_Mutation SNP A A T TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr10:73767358A>T ENST00000373115.4 + 3 1006 c.569A>T c.(568-570)gAc>gTc p.D190V NM_004273.4 NP_004264.2 Q7LGC8 CHST3_HUMAN carbohydrate (chondroitin 6) sulfotransferase 3 190 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity endometrium(1)|lung(5) 6 GTGTACCGCGACGTGCTCAAG 0.652000 5 26 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9012504 9012504 + Missense_Mutation SNP C C A TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr19:9012504C>A ENST00000397910.4 - 35 38905 c.38702G>T c.(38701-38703)gGc>gTc p.G12901V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12903 SEA 6. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTACAGAAGGCCGACACTGGT 0.537000 40 106 4.14481e-20 4.44516e-20 1 1 0 APAF1 317 broad.mit.edu 37 12 99106175 99106175 + Nonsense_Mutation SNP C C T TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr12:99106175C>T ENST00000357310.1 + 20 3368 c.2791C>T c.(2791-2793)Cag>Tag p.Q931* APAF1_ENST00000547045.1_Nonsense_Mutation_p.Q931*|APAF1_ENST00000359972.2_Nonsense_Mutation_p.Q920*|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000550527.1_Nonsense_Mutation_p.Q963*|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Nonsense_Mutation_p.Q931*|APAF1_ENST00000551964.1_Nonsense_Mutation_p.Q974*|APAF1_ENST00000549007.1_Nonsense_Mutation_p.Q931* NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 974 activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) TCCACATCTTCAGTACATTGC 0.348000 16 14 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189854844 189854844 + Missense_Mutation SNP G G A TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr2:189854844G>A ENST00000304636.3 + 9 883 c.713G>A c.(712-714)cGa>cAa p.R238Q COL3A1_ENST00000317840.5_Missense_Mutation_p.R238Q NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 238 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AGACCCGGACGACCTGGAGAG 0.388000 13 29 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65425585 65425585 + Silent SNP C C T TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr3:65425585C>T ENST00000330909.8 - 9 1238 c.1239G>A c.(1237-1239)caG>caA p.Q413Q MAGI1_ENST00000483466.1_Silent_p.Q413Q|MAGI1_ENST00000497477.2_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.Q413Q NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 413 Poly-Gln. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) gctgctgctgctgctgttgct 0.537000 OREG0015658 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 159 0 0 1 0 0 PHLPP1 23239 broad.mit.edu 37 18 60609112 60609112 + Missense_Mutation SNP T T A TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr18:60609112T>A ENST00000400316.4 + 11 3367 c.1586T>A c.(1585-1587)cTt>cAt p.L529H PHLPP1_ENST00000262719.5_Missense_Mutation_p.L1041H NM_194449.3 NP_919431.2 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein phosphatase 1 1041 apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 TTGAAGATCCTTCACATGGCC 0.408000 20 18 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158621165 158621165 + Missense_Mutation SNP T T A TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr1:158621165T>A ENST00000368148.3 - 24 3649 c.3469A>T c.(3469-3471)Atc>Ttc p.I1157F SPTA1_ENST00000368147.3_Missense_Mutation_p.I1157F NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1157 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) ACCTGCCGGATTTGAGCTCCT 0.453000 87 134 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48613108 48613108 + Missense_Mutation SNP C C T TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr3:48613108C>T ENST00000328333.8 - 72 6037 c.5930G>A c.(5929-5931)cGt>cAt p.R1977H COL7A1_ENST00000454817.1_Missense_Mutation_p.R1945H NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1977 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGGGCCTCGACGCCGTTCGGG 0.652000 23 90 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33135298 33135298 + Missense_Mutation SNP C C T TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr6:33135298C>T ENST00000341947.2 - 56 4254 c.4027G>A c.(4027-4029)Gct>Act p.A1343T COL11A2_ENST00000374714.1_Missense_Mutation_p.A1317T|COL11A2_ENST00000357486.1_Missense_Mutation_p.A1322T|COL11A2_ENST00000361917.1_Missense_Mutation_p.A1236T|COL11A2_ENST00000395197.1_Missense_Mutation_p.A1283T|COL11A2_ENST00000374708.4_Missense_Mutation_p.A1257T|COL11A2_ENST00000374712.1_Missense_Mutation_p.A1262T|COL11A2_ENST00000374713.1_Missense_Mutation_p.A1296T|COL11A2_ENST00000477772.1_Intron NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1343 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GCACCTATAGCGCCAGGATCT 0.652000 20 25 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77407599 77407599 + Missense_Mutation SNP A A C TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr9:77407599A>C ENST00000451710.3 - 19 2716 c.2479T>G c.(2479-2481)Tgg>Ggg p.W827G TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.W827G|TRPM6_ENST00000449912.2_Missense_Mutation_p.W822G|TRPM6_ENST00000376864.4_Missense_Mutation_p.W827G|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.W822G Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 827 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TTCCTGGTCCACGGAAGGTGT 0.388000 20 24 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216390848 216390848 + Missense_Mutation SNP G G A TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr1:216390848G>A ENST00000366943.2 - 15 3424 c.3038C>T c.(3037-3039)aCc>aTc p.T1013I USH2A_ENST00000307340.3_Missense_Mutation_p.T1013I|USH2A_ENST00000366942.3_Missense_Mutation_p.T1013I O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1013 Laminin EGF-like 10. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CAAGTGACAGGTTTCATTCAA 0.398000 HNSCC(13;0.011) 26 26 0 0 1 0 0 RAB38 23682 broad.mit.edu 37 11 87882875 87882875 + Missense_Mutation SNP C C T rs143951992 TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr11:87882875C>T ENST00000243662.6 - 2 533 c.451G>A c.(451-453)Ggt>Agt p.G151S NM_022337.2 NP_071732.1 P57729 RAB38_HUMAN RAB38, member RAS oncogene family 151 protein transport|small GTPase mediated signal transduction melanosome|plasma membrane GTP binding|GTPase activity large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CCTACGAAACCGTGCTCCTTG 0.413000 22 109 0 0 1 0 0 TCF7L2 6934 broad.mit.edu 37 10 114919686 114919686 + Silent SNP C C T TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr10:114919686C>T ENST00000355995.4 + 14 1884 c.1377C>T c.(1375-1377)agC>agT p.S459S TCF7L2_ENST00000534894.1_Silent_p.S459S|TCF7L2_ENST00000536810.1_Silent_p.S442S|TCF7L2_ENST00000369397.4_Silent_p.S436S|TCF7L2_ENST00000538897.1_Intron|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000369386.1_Silent_p.S85S|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000545257.1_Intron|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000352065.5_Silent_p.S436S|TCF7L2_ENST00000542695.1_Silent_p.S175S|TCF7L2_ENST00000543371.1_Intron Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 459 Promoter-specific activation domain. anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) CAGACCTGAGCGCTCCTAAGA 0.542000 T VTI1A colorectal 23 21 0 0 1 0 0 NET1 10276 broad.mit.edu 37 10 5471142 5471142 + Missense_Mutation SNP C C G TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr10:5471142C>G ENST00000355029.4 + 3 347 c.205C>G c.(205-207)Cgc>Ggc p.R69G NET1_ENST00000542715.1_5'UTR NM_001047160.1 NP_001040625.1 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming 1 69 Necessary for nuclear localization (By similarity). apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity p.R69C(1) breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1) 23 GAAAAGAAAACGCAGAGAGAA 0.323000 6 113 0 0 1 0 0 PUS7L 83448 broad.mit.edu 37 12 44124455 44124455 + Silent SNP T T C TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr12:44124455T>C ENST00000416848.2 - 9 2318 c.1830A>G c.(1828-1830)gtA>gtG p.V610V PUS7L_ENST00000551923.1_Silent_p.V610V|PUS7L_ENST00000344862.5_Silent_p.V610V|PUS7L_ENST00000431332.3_Silent_p.V297V NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 610 TRUD. pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) ACCACTGCCCTACTTTGTTCT 0.383000 30 33 0 0 1 0 0 FBXW7 0 broad.mit.edu 37 4 153250867 153250867 + Missense_Mutation SNP G G A TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr4:153250867G>A ENST00000281708.4 - 8 2422 c.1193C>T c.(1192-1194)tCt>tTt p.S398F FBXW7_ENST00000603548.1_Missense_Mutation_p.S398F|FBXW7_ENST00000603841.1_Missense_Mutation_p.S398F|FBXW7_ENST00000393956.3_Missense_Mutation_p.S222F|FBXW7_ENST00000263981.5_Missense_Mutation_p.S318F|FBXW7_ENST00000296555.5_Missense_Mutation_p.S280F NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 398 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) GTTGTCATCAGAACCACTAAC 0.358000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 59 28 0 0 1 0 0 HELQ 113510 broad.mit.edu 37 4 84348767 84348767 + Silent SNP G G A TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr4:84348767G>A ENST00000295488.3 - 13 2787 c.2625C>T c.(2623-2625)ccC>ccT p.P875P HELQ_ENST00000510985.1_Silent_p.P808P NM_133636.2 NP_598375.2 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 875 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 CCAGATCATAGGGGGTTGTTA 0.373000 Other identified genes with known or suspected DNA repair function 59 40 0 0 1 0 0 DCTN1 1639 broad.mit.edu 37 2 74604816 74604816 + Missense_Mutation SNP G G A TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr2:74604816G>A ENST00000361874.3 - 3 634 c.317C>T c.(316-318)cCa>cTa p.P106L DCTN1_ENST00000409567.3_Missense_Mutation_p.P106L|DCTN1_ENST00000409240.1_Missense_Mutation_p.P89L|DCTN1_ENST00000394003.3_Missense_Mutation_p.P106L|DCTN1_ENST00000409868.1_Missense_Mutation_p.P89L NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 106 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 AGGTGTCTCTGGGGAAGTAGT 0.463000 21 100 0 0 1 0 0 HMGCL 3155 broad.mit.edu 37 1 24147025 24147025 + Missense_Mutation SNP G G C TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr1:24147025G>C ENST00000374483.4 - 3 715 c.44C>G c.(43-45)cCc>cGc p.P15R HMGCL_ENST00000374490.3_Missense_Mutation_p.P40R|HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000436439.2_Missense_Mutation_p.P40R P35914 HMGCL_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase 40 acetoacetic acid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA lyase activity|metal ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188) TCCATCTCGGGGACCAACTTC 0.393000 18 46 0 0 1 0 0 FNDC9 408263 broad.mit.edu 37 5 156769995 156769995 + Missense_Mutation SNP G G A TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr5:156769995G>A ENST00000312349.4 - 2 737 c.550C>T c.(550-552)Cca>Tca p.P184S CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000522463.1_Intron NM_001001343.3 NP_001001343.2 Q8TBE3 FNDC9_HUMAN fibronectin type III domain containing 9 184 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 9 TTCTTGCGTGGCATTTCCACC 0.632000 OREG0016977 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 101 0 0 1 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130289058 130289058 + Missense_Mutation SNP C C T TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr11:130289058C>T ENST00000257359.6 - 2 1556 c.850G>A c.(850-852)Gac>Aac p.D284N NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 284 Peptidase M12B. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) CCCCCATTGTCGGACACCTCT 0.552000 63 336 0 0 1 0 0 MCHR1 0 broad.mit.edu 37 22 41077056 41077056 + Silent SNP C C T TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr22:41077056C>T ENST00000249016.4 + 2 1089 c.393C>T c.(391-393)atC>atT p.I131I MCHR1_ENST00000381433.2_Silent_p.I131I|MCHR1_ENST00000498400.1_3'UTR NM_005297.3 NP_005288.3 Q99705 MCHR1_HUMAN melanin-concentrating hormone receptor 1 131 elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1) 20 CCACGGTCATCTTCGCGGTCG 0.557000 21 58 0 0 1 0 0 OTOP1 133060 broad.mit.edu 37 4 4204203 4204203 + Missense_Mutation SNP G G C TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr4:4204203G>C ENST00000296358.4 - 4 726 c.702C>G c.(700-702)atC>atG p.I234M NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 234 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AACCCAGAGTGATGAGCCGTT 0.517000 29 78 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|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 p.Q269Q(15) 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 gctgctgctgctgttgttgtt 0.537000 4 78 0 0 1 0 0 SPATA16 83893 broad.mit.edu 37 3 172835309 172835309 + Missense_Mutation SNP T T A TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr3:172835309T>A ENST00000351008.3 - 2 396 c.213A>T c.(211-213)gaA>gaT p.E71D NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 71 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) TGCTTTGTTTTTCTTTGATGC 0.368000 29 210 0 0 1 0 0 MLLT4 4301 broad.mit.edu 37 6 168344722 168344722 + Missense_Mutation SNP C C G TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr6:168344722C>G ENST00000366806.2 + 26 3462 c.3320C>G c.(3319-3321)tCc>tGc p.S1107C MLLT4_ENST00000344191.4_Missense_Mutation_p.S1107C|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000351017.4_Missense_Mutation_p.S1114C|MLLT4_ENST00000447894.2_Missense_Mutation_p.S1107C|MLLT4_ENST00000400822.3_Missense_Mutation_p.S1106C|MLLT4_ENST00000392112.1_Missense_Mutation_p.S1090C|MLLT4_ENST00000392108.3_Missense_Mutation_p.S1107C P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 1107 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) AATCAGCCATCCCCCATGATG 0.517000 T MLL AL 14 52 0 0 1 0 0 CLUL1 27098 broad.mit.edu 37 18 641365 641365 + Missense_Mutation SNP G G A TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr18:641365G>A ENST00000581619.1 + 7 1955 c.1108G>A c.(1108-1110)Gag>Aag p.E370K CLUL1_ENST00000400606.2_Missense_Mutation_p.E345K|CLUL1_ENST00000540035.1_Missense_Mutation_p.E397K|C18orf56_ENST00000585033.1_3'UTR|CLUL1_ENST00000579494.1_Missense_Mutation_p.E345K|CLUL1_ENST00000338387.7_Missense_Mutation_p.E345K Q15846 CLUL1_HUMAN clusterin-like 1 (retinal) 345 cell death extracellular region NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1) 24 AGAATTAGACGAGGCGATCAG 0.488000 28 30 0 0 1 0 0 ARHGEF3 50650 broad.mit.edu 37 3 56779411 56779411 + Missense_Mutation SNP T T C TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr3:56779411T>C ENST00000413728.2 - 7 1253 c.710A>G c.(709-711)gAt>gGt p.D237G ARHGEF3_ENST00000338458.4_Missense_Mutation_p.D263G|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.D231G|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.D231G|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.D237G|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.D202G NM_001128616.1 NP_001122088.1 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor (GEF) 3 231 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) GACTCGGTGATCTTGCTTTTT 0.483000 131 313 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44922731 44922731 + Missense_Mutation SNP C C T TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chrX:44922731C>T ENST00000377967.4 + 16 1633 c.1592C>T c.(1591-1593)tCa>tTa p.S531L KDM6A_ENST00000543216.1_Missense_Mutation_p.S452L|KDM6A_ENST00000382899.4_Missense_Mutation_p.S538L|KDM6A_ENST00000536777.1_Missense_Mutation_p.S486L NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 531 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.0(2) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 ACAGCTGACTCATCACTGCCT 0.522000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 29 32 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70505948 70505948 + Silent SNP C C G TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr11:70505948C>G ENST00000338508.4 - 23 2048 c.2049G>C c.(2047-2049)ggG>ggC p.G683G SHANK2_ENST00000449833.2_Silent_p.G94G|SHANK2_ENST00000449116.2_Silent_p.G94G|SHANK2_ENST00000423696.2_Silent_p.G303G|SHANK2_ENST00000409530.1_Silent_p.G93G|SHANK2_ENST00000409161.1_Silent_p.G93G|SHANK2_ENST00000357171.3_Silent_p.G94G Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 303 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TCAAGAAGTCCCCGGTCCTTA 0.587000 16 83 0 0 1 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798810 55798810 + Nonsense_Mutation SNP G G T TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr11:55798810G>T ENST00000313555.1 + 1 916 c.916G>T c.(916-918)Gaa>Taa p.E306* NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) AAAGCTATTAGAAAGAATTGG 0.308000 12 45 3.07112e-06 3.20088e-06 1 1 0 SCML1 6322 broad.mit.edu 37 X 17770059 17770059 + Silent SNP C C T TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chrX:17770059C>T ENST00000380043.3 + 6 1075 c.747C>T c.(745-747)tgC>tgT p.C249C SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000380041.3_Silent_p.C276C NM_006746.4 NP_006737.2 Q9UN30 SCML1_HUMAN sex comb on midleg-like 1 (Drosophila) 276 anatomical structure morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1) 10 Hepatocellular(33;0.183) TTGCATTATGCCCTCTTGTCG 0.448000 5 406 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237886488 237886488 + Missense_Mutation SNP G G T TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr1:237886488G>T ENST00000366574.2 + 74 10932 c.10615G>T c.(10615-10617)Gat>Tat p.D3539Y RYR2_ENST00000360064.6_Missense_Mutation_p.D3537Y|RYR2_ENST00000542537.1_Missense_Mutation_p.D3523Y NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3539 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AAACAGGACTGATGATACCTC 0.398000 31 98 7.35883e-32 8.00814e-32 1 1 0 MCM4 4173 broad.mit.edu 37 8 48873764 48873764 + Silent SNP C C T TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr8:48873764C>T ENST00000262105.2 + 1 269 c.60C>T c.(58-60)ccC>ccT p.P20P MCM4_ENST00000523944.1_Silent_p.P20P NM_005914.3 NP_005905.2 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 20 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) GGGCCACCCCCGCCCAGACGC 0.771000 5 0 0 0 1 0 0 ACTN4 81 broad.mit.edu 37 19 39198795 39198795 + Missense_Mutation SNP G G A TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr19:39198795G>A ENST00000252699.2 + 6 687 c.611G>A c.(610-612)cGg>cAg p.R204Q ACTN4_ENST00000390009.3_Intron|ACTN4_ENST00000424234.2_Intron NM_004924.4 NP_004915.2 O43707 ACTN4_HUMAN actinin, alpha 4 204 Actin-binding.|CH 2. platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3) 30 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CTGATCCACCGGCACAGACCA 0.567000 42 93 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578271 7578271 + Missense_Mutation SNP T T C TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr17:7578271T>C ENST00000420246.2 - 6 710 c.578A>G c.(577-579)cAt>cGt p.H193R TP53_ENST00000269305.4_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 193 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCGGATAAGATGCTGAGGAGG 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 41 7 0 0 1 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52715982 52715982 + Missense_Mutation SNP C C T TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr19:52715982C>T ENST00000322088.6 + 5 605 c.547C>T c.(547-549)Cgg>Tgg p.R183W PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128W|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4W NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 183 PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity p.R183W(22)|p.R183G(2) NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) CATGGTGCGGCGGGCCGCAGC 0.617000 Mis clear cell ovarian carcinoma 32 68 0 0 1 0 0 NKAIN4 128414 broad.mit.edu 37 20 61875393 61875393 + Missense_Mutation SNP G G A rs141841184 TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr20:61875393G>A ENST00000370316.3 - 5 604 c.515C>T c.(514-516)aCg>aTg p.T172M NKAIN4_ENST00000370313.1_Missense_Mutation_p.T110M|NKAIN4_ENST00000466885.1_5'UTR|NKAIN4_ENST00000370307.2_Missense_Mutation_p.T110M NM_152864.3 NP_690603.3 Q8IVV8 NKAI4_HUMAN Na+/K+ transporting ATPase interacting 4 172 integral to membrane|plasma membrane endometrium(2)|lung(1)|ovary(1) 4 all_cancers(38;2.72e-09) CTCTTCCTCCGTAAACACGCT 0.637000 4 45 0 0 1 0 0 DNM3 26052 broad.mit.edu 37 1 171958171 171958172 + Frame_Shift_Ins INS - - A TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr1:171958171_171958172insA ENST00000358155.4 + 4 648_649 c.472_473insA c.(472-474)aatfs p.N158fs DNM3_ENST00000367733.2_Frame_Shift_Ins_p.N158fs|DNM3_ENST00000367731.1_Frame_Shift_Ins_p.N158fs|DNM3_ENST00000520906.1_Frame_Shift_Ins_p.N158fs|DNM3_ENST00000355305.5_Frame_Shift_Ins_p.N158fs NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 158 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 TCAGATCAGAGAAATGATTATG 0.426 22 19 --- --- --- --- OR2T2 401992 broad.mit.edu 37 1 248616705 248616711 + Frame_Shift_Del DEL TGCTGCG TGCTGCG - TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr1:248616705_248616711delTGCTGCG ENST00000342927.3 + 1 629_635 c.607_613delTGCTGCG c.(607-615)tgfs p.CCV203fs NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGTATGCCTGCTGCGTGCTGATGCT 0.527 7 161 --- --- --- --- PIK3R1 5295 broad.mit.edu 37 5 67589585 67589586 + In_Frame_Ins INS - - ATG TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr5:67589585_67589586insATG ENST00000521381.1 + 11 1964_1965 c.1348_1349insATG c.(1348-1350)tga>ATGtga p.449_450insM PIK3R1_ENST00000521657.1_In_Frame_Ins_p.449_450insM|PIK3R1_ENST00000274335.5_In_Frame_Ins_p.449_450insM|PIK3R1_ENST00000320694.8_In_Frame_Ins_p.149_150insM|PIK3R1_ENST00000396611.1_In_Frame_Ins_p.449_450insM|PIK3R1_ENST00000523872.1_In_Frame_Ins_p.86_87insM|PIK3R1_ENST00000336483.5_In_Frame_Ins_p.179_180insM NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 449 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.H450_E451del(2)|p.G446_Y452>VI(1)|p.0?(1)|p.?(1)|p.E451_Y452delEY(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) GAAAAAATTACATGAATATAAC 0.282 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 24 21 --- --- --- --- PPAPDC2 403313 broad.mit.edu 37 9 4662430 4662432 + In_Frame_Del DEL AGC AGC - TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr9:4662430_4662432delAGC ENST00000381883.2 + 1 133_135 c.55_57delAGC c.(55-57)del p.S23del SPATA6L_ENST00000223517.5_Intron|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000454239.2_Intron|SPATA6L_ENST00000381895.5_Intron NM_203453.3 NP_982278.3 Q8IY26 PPAC2_HUMAN phosphatidic acid phosphatase type 2 domain containing 2 23 integral to membrane hydrolase activity endometrium(1)|large_intestine(2)|lung(1) 4 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.026) CTCCGCTTCGAGCAGCAGCAGCA 0.729 OREG0019084 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- ANKRD18A 253650 broad.mit.edu 37 9 38615615 38615618 + Frame_Shift_Del DEL ATGG ATGG - TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr9:38615615_38615618delATGG ENST00000399703.5 - 3 842_845 c.468_471delCCAT c.(466-471)cafs p.HH156fs NM_147195.2 NP_671728.2 Q8IVF6 AN18A_HUMAN ankyrin repeat domain 18A 156 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1) 16 CAATATTTGCATGGTGGGAAAGCA 0.373 7 4 --- --- --- --- RP11-19N8.2 0 broad.mit.edu 37 16 33021179 33021180 + RNA INS - - GTTT TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr16:33021179_33021180insGTTT ENST00000567619.1 - 0 499 AATGTAAAACGTTTTTTTTTGT 0.416 2 4 --- --- --- --- RP11-305P22.9 0 broad.mit.edu 37 20 61680495 61680495 + RNA DEL T T - TCGA-N8-A4PN-01A-11D-A28R-08 TCGA-N8-A4PN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c6bebb-add9-4a40-96bc-5063289d5e64 4e82a82d-6ec4-4b31-9bfc-1d86f4436235 g.chr20:61680495delT ENST00000607802.1 + 0 91 RP11-305P22.5_ENST00000455711.1_lincRNA NR_033370.1 ctcttcctcctcctcctcctc 0.612 2 4 --- --- --- ---