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 SMPDL3B 27293 broad.mit.edu 37 1 28285085 28285085 + Silent SNP G G A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr1:28285085G>A uc001bpg.3 + 7 1295 c.1104G>A c.(1102-1104)ccG>ccA p.P368P SMPDL3B_uc010ofq.2_Silent_p.P162P|SMPDL3B_uc010ofr.2_Silent_p.P320P|XKR8_uc001bph.1_5'Flank NM_014474 NP_055289 Q92485 ASM3B_HUMAN Homo sapiens sphingomyelin phosphodiesterase, acid-like 3B (SMPDL3B), transcript variant 1, mRNA. 368 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 16 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055) ATGGGGTGCCGGACGCCAGCG 0.617 BRDT 676 broad.mit.edu 37 1 92479806 92479806 + Missense_Mutation SNP C C A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr1:92479806C>A uc001dol.4 + 19 3237 c.2819C>A c.(2818-2820)aCa>aAa p.T940K BRDT_uc010osz.2_Missense_Mutation_p.T944K|BRDT_uc001dok.4_Missense_Mutation_p.T940K|BRDT_uc009wdf.3_Missense_Mutation_p.T867K|BRDT_uc010otb.2_Missense_Mutation_p.T894K|BRDT_uc010ota.2_Missense_Mutation_p.T894K|BRDT_uc001dom.4_Missense_Mutation_p.T940K NM_001242805 NP_001229734 Q58F21 BRDT_HUMAN Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA. 940 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) GACATTATGACAATGTTTGAA 0.269 COL11A1 1301 broad.mit.edu 37 1 103345386 103345386 + Silent SNP A A G TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr1:103345386A>G uc001dum.3 - 65 5481 c.5163T>C c.(5161-5163)aaT>aaC p.N1721N COL11A1_uc001duk.3_Silent_p.N905N|COL11A1_uc001dul.3_Silent_p.N1709N|COL11A1_uc001dun.3_Silent_p.N1670N|COL11A1_uc009weh.3_Silent_p.N1593N NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 1709 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GGTAGGTGAAATTTTGCCGAG 0.423 SLC6A17 388662 broad.mit.edu 37 1 110740739 110740739 + Silent SNP A A G TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr1:110740739A>G uc009wfq.3 + 11 2318 c.1857A>G c.(1855-1857)gcA>gcG p.A619A NM_001010898 NP_001010898 Q9H1V8 S6A17_HUMAN Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA. 619 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) GGGCCATGGCACTCCTGATCA 0.657 NCF2 4688 broad.mit.edu 37 1 183542320 183542320 + Silent SNP C C T rs147657171 TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr1:183542320C>T uc001gqj.4 - 5 884 c.609_splice c.e5+1 p.T203_splice NCF2_uc010pod.2_Splice_Site_p.T158_splice|NCF2_uc010poe.2_Intron|NCF2_uc001gqk.4_Splice_Site_p.T203_splice NM_000433 NP_001121123 P19878 NCF2_HUMAN Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA. 203 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 TCCCACCTACCGTCGCCTTGC 0.572 GALNT2 2590 broad.mit.edu 37 1 230314000 230314000 + Missense_Mutation SNP G G C TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr1:230314000G>C uc010pwa.1 + 1 235 c.163G>C c.(163-165)Gac>Cac p.D55H GALNT2_uc010pvy.1_Missense_Mutation_p.D17H|GALNT2_uc010pvz.1_Intron NM_004481 NP_004472 Q10471 GALT2_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA. 55 immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) TAAAAAGAAAGACCTTCATCA 0.473 LGALS8 3964 broad.mit.edu 37 1 236704996 236704996 + Missense_Mutation SNP A A G TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr1:236704996A>G uc001hxz.2 + 6 889 c.508A>G c.(508-510)Ata>Gta p.I170V LGALS8_uc001hxw.2_Missense_Mutation_p.I170V|LGALS8_uc001hxy.2_Missense_Mutation_p.I170V|LGALS8_uc009xgg.2_Non-coding_Transcript|LGALS8_uc001hya.2_Missense_Mutation_p.I170V|LGALS8_uc001hyc.2_Intron NM_201543 NP_963838 O00214 LEG8_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 8 (LGALS8), transcript variant 2, mRNA. 170 cytoplasm|extracellular space sugar binding kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5) 20 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.0253)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) ACTGACAGAGATAAGTAGAGA 0.308 VN1R5 317705 broad.mit.edu 37 1 247419512 247419512 + Missense_Mutation SNP A A G TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr1:247419512A>G uc010pyu.2 + 2 136 c.136_splice c.e2-1 p.I46_splice NM_173858 NP_776257 Q7Z5H4 VN1R5_HUMAN Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA. 47 response to pheromone integral to membrane|plasma membrane pheromone receptor activity all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) all_cancers(173;0.0314) OV - Ovarian serous cystadenocarcinoma(106;0.00854) TACCATATAAATCTTCTTTTA 0.353 CALML5 51806 broad.mit.edu 37 10 5541186 5541186 + Silent SNP C C T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr10:5541186C>T uc001iic.2 - 0 348 c.216G>A c.(214-216)gcG>gcA p.A72A NM_017422 NP_059118 Q9NZT1 CALL5_HUMAN Homo sapiens calmodulin-like 5 (CALML5), mRNA. 72 EF-hand 2. epidermis development|signal transduction calcium ion binding|protein binding biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1) 8 CCTTCTTCGCCGCCGTCAGGA 0.662 SORCS3 22986 broad.mit.edu 37 10 106899184 106899184 + Silent SNP C C T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr10:106899184C>T uc001kyi.1 + 7 1469 c.1242C>T c.(1240-1242)taC>taT p.Y414Y NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 414 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CCAGCTACTACGTGTCTTATC 0.488 TRIM51 84767 broad.mit.edu 37 11 55653041 55653041 + Missense_Mutation SNP C C T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr11:55653041C>T uc010rip.2 + 1 229 c.137C>T c.(136-138)aCg>aTg p.T46M TRIM51_uc010riq.2_5'Flank NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA. 46 intracellular zinc ion binding p.T46M(1) TGGCAAGACACGGCAGTTCTT 0.493 MEN1 4221 broad.mit.edu 37 11 64575418 64575418 + Missense_Mutation SNP C C T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr11:64575418C>T uc001obj.3 - 2 687 c.614G>A c.(613-615)gGc>gAc p.G205D MEN1_uc001obk.3_Missense_Mutation_p.G205D|MEN1_uc001obl.3_Intron|MEN1_uc001obm.3_Missense_Mutation_p.G200D|MEN1_uc001obn.3_Missense_Mutation_p.G205D|MEN1_uc001obo.3_Missense_Mutation_p.G205D|MEN1_uc001obq.3_Missense_Mutation_p.G205D|MEN1_uc001obr.3_Missense_Mutation_p.G205D NM_130800 NP_570716 O00255 MEN1_HUMAN Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA. 205 DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 GTTGCCCTTGCCGTGCCAGGT 0.627 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated CCDC81 60494 broad.mit.edu 37 11 86123501 86123501 + Missense_Mutation SNP A A G TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr11:86123501A>G uc001pbx.2 + 10 1719 c.1291A>G c.(1291-1293)Agt>Ggt p.S431G CCDC81_uc001pbw.2_Missense_Mutation_p.S341G|CCDC81_uc010rtq.2_Missense_Mutation_p.S214G|CCDC81_uc001pby.2_Missense_Mutation_p.S166G NM_001156474 NP_001149946 Q6ZN84 CCD81_HUMAN Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA. 431 p.E430*(1) kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) ATATTCCCGGAGTCTCCTGAA 0.418 GLI1 2735 broad.mit.edu 37 12 57863263 57863263 + Missense_Mutation SNP C C T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr12:57863263C>T uc001snx.3 + 10 1452 c.1358C>T c.(1357-1359)tCc>tTc p.S453F GLI1_uc021qzi.1_Missense_Mutation_p.S412F|GLI1_uc009zpq.3_Missense_Mutation_p.S325F NM_005269 NP_001153517 P08151 GLI1_HUMAN Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA. 453 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) AGTGACCACTCCCCGGCAGGG 0.602 CAND1 55832 broad.mit.edu 37 12 67691247 67691247 + Missense_Mutation SNP G G T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr12:67691247G>T uc001stn.2 + 4 989 c.552G>T c.(550-552)ttG>ttT p.L184F CAND1_uc001sto.2_5'Flank NM_018448 NP_060918 Q86VP6 CAND1_HUMAN Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA. 184 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) TTCCCCAGTTGACCAGCCCTA 0.368 MGAT4C 25834 broad.mit.edu 37 12 86374059 86374059 + Missense_Mutation SNP G G A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr12:86374059G>A uc010sum.2 - 5 676 c.517C>T c.(517-519)Cgt>Tgt p.R173C MGAT4C_uc001tal.4_Missense_Mutation_p.R149C|MGAT4C_uc001taj.4_Missense_Mutation_p.R149C|MGAT4C_uc001tak.4_Missense_Mutation_p.R149C|MGAT4C_uc001tai.4_Missense_Mutation_p.R149C|MGAT4C_uc001tah.4_Missense_Mutation_p.R149C NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA. 149 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 ATGGCATCACGCCAGGAAGAA 0.398 C12orf63 374467 broad.mit.edu 37 12 97087577 97087577 + Silent SNP A A G TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr12:97087577A>G uc021rcc.1 + 11 1695 c.1617A>G c.(1615-1617)agA>agG p.R539R Q6ZTY8 CL063_HUMAN RecName: Full=Putative uncharacterized protein C12orf63; 539 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 TAGAAGCAAGAATCCTCAAGG 0.308 RIMBP2 23504 broad.mit.edu 37 12 130926697 130926697 + Silent SNP C C T rs149109982 TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr12:130926697C>T uc001uil.2 - 7 1365 c.1149G>A c.(1147-1149)acG>acA p.T383T RIMBP2_uc001uim.3_Silent_p.T291T NM_015347 NP_056162 O15034 RIMB2_HUMAN Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA. 383 cell junction|synapse p.T383M(1) NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CCACCAGCAGCGTGCACTGCA 0.637 MTUS2 23281 broad.mit.edu 37 13 29600822 29600822 + Missense_Mutation SNP G G T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr13:29600822G>T uc001usl.4 + 0 2075 c.2017G>T c.(2017-2019)Gtt>Ttt p.V673F NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 663 Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CGCCTCGCTGGTTCCAGTGGG 0.587 BRCA2 675 broad.mit.edu 37 13 32911000 32911000 + Silent SNP T T C TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr13:32911000T>C uc001uub.1 + 10 2735 c.2508T>C c.(2506-2508)ccT>ccC p.P836P NM_000059 NP_000050 P51587 BRCA2_HUMAN Homo sapiens breast cancer 2, early onset (BRCA2), mRNA. 836 Interaction with NPM1. cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TGTTGCCACCTGAAAAATACA 0.308 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) ARL11 115761 broad.mit.edu 37 13 50204952 50204952 + Silent SNP G G A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr13:50204952G>A uc001vdf.2 + 1 704 c.369G>A c.(367-369)aaG>aaA p.K123K ARL11_uc021rjo.1_Silent_p.K123K NM_138450 NP_612459 Q969Q4 ARL11_HUMAN Homo sapiens ADP-ribosylation factor-like 11 (ARL11), mRNA. 123 small GTPase mediated signal transduction intracellular GTP binding|protein binding kidney(1)|large_intestine(4)|ovary(1) 6 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169) GBM - Glioblastoma multiforme(99;1.67e-09) TGGCCAACAAGCAGGAGGCAC 0.602 PROZ 8858 broad.mit.edu 37 13 113812987 113812987 + Missense_Mutation SNP G G A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr13:113812987G>A uc001vta.1 + 0 20 c.13G>A c.(13-15)Gtc>Atc p.V5I PROZ_uc010agr.1_Missense_Mutation_p.V5I NM_003891 NP_003882 P22891 PROZ_HUMAN Homo sapiens protein Z, vitamin K-dependent plasma glycoprotein (PROZ), transcript variant 2, mRNA. 5 blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|serine-type endopeptidase activity NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.216) all cancers(43;0.104) Menadione(DB00170) GGCAGGCTGCGTCCCACTGCT 0.657 PPP4R4 57718 broad.mit.edu 37 14 94703972 94703972 + Nonsense_Mutation SNP C C T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr14:94703972C>T uc001ycs.1 + 7 956 c.802C>T c.(802-804)Cga>Tga p.R268* NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA. 268 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 CAGCAGTGTACGACTTGCAGC 0.358 AQR 9716 broad.mit.edu 37 15 35166951 35166951 + Missense_Mutation SNP A A G TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr15:35166951A>G uc001ziv.3 - 28 3533 c.3352T>C c.(3352-3354)Tct>Cct p.S1118P NM_014691 NP_055506 O60306 AQR_HUMAN Homo sapiens aquarius homolog (mouse) (AQR), mRNA. 1118 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) GTGAAGAGAGACTGCTCCATG 0.428 KIAA1024 23251 broad.mit.edu 37 15 79750063 79750063 + Missense_Mutation SNP T T C TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr15:79750063T>C uc002bew.1 + 1 1649 c.1574T>C c.(1573-1575)cTt>cCt p.L525P KIAA1024_uc010unk.1_Missense_Mutation_p.L525P NM_015206 NP_056021 Q9UPX6 K1024_HUMAN Homo sapiens KIAA1024 (KIAA1024), mRNA. 525 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 TTCCGATTTCTTGATGACATG 0.502 SLC7A5 8140 broad.mit.edu 37 16 87873313 87873313 + Missense_Mutation SNP C C A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr16:87873313C>A uc002fkm.3 - 4 1006 c.934G>T c.(934-936)Gcc>Tcc p.A312S NM_003486 NP_003477 Q01650 LAT1_HUMAN Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 5 (SLC7A5), mRNA. 312 blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development apical plasma membrane|cytosol|integral to membrane neutral amino acid transmembrane transporter activity|peptide antigen binding endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(80;0.049) CTCACCACGGCCACGGCCTCG 0.652 PLSCR3 57048 broad.mit.edu 37 17 7296587 7296587 + Missense_Mutation SNP C C T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr17:7296587C>T uc002ggn.2 - 4 907 c.383G>A c.(382-384)cGt>cAt p.R128H PLSCR3_uc002ggo.2_Missense_Mutation_p.R128H|PLSCR3_uc002ggm.2_Missense_Mutation_p.R128H|PLSCR3_uc002ggp.2_Intron|PLSCR3_uc002ggq.2_Intron|PLSCR3_uc010cmg.2_Missense_Mutation_p.R128H|PLSCR3_uc002ggr.2_Missense_Mutation_p.R128H NM_020360 NP_065093 Q9NRY6 PLS3_HUMAN Homo sapiens phospholipid scramblase 3 (PLSCR3), transcript variant 1, mRNA. 128 phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding endometrium(1)|kidney(2)|urinary_tract(1) 4 Prostate(122;0.173) ACAGCACAGACGGGCGCAGCA 0.716 KRT15 3866 broad.mit.edu 37 17 39673161 39673161 + Missense_Mutation SNP G G A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr17:39673161G>A uc002hwy.3 - 2 828 c.637C>T c.(637-639)Cgc>Tgc p.R213C KRT15_uc002hwz.3_Missense_Mutation_p.R115C|KRT15_uc002hxa.3_Missense_Mutation_p.R48C|KRT15_uc002hxb.1_Missense_Mutation_p.R48C NM_002275 NP_002266 P19012 K1C15_HUMAN Homo sapiens keratin 15 (KRT15), mRNA. 213 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(137;0.000286) AGGACTCGGCGCAAGCCGTTG 0.592 PITPNC1 26207 broad.mit.edu 37 17 65528973 65528973 + Missense_Mutation SNP G G A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr17:65528973G>A uc002jgc.3 + 1 451 c.104G>A c.(103-105)cGg>cAg p.R35Q PITPNC1_uc002jgb.3_Missense_Mutation_p.R35Q NM_012417 NP_036549 Q9UKF7 PITC1_HUMAN Homo sapiens phosphatidylinositol transfer protein, cytoplasmic 1 (PITPNC1), transcript variant 1, mRNA. 35 signal transduction cytoplasm lipid binding|phosphatidylinositol transporter activity|protein binding breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3) 17 all_cancers(12;3.03e-10) BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198) CAGAGTGACCGGGGAGAAGGG 0.532 ELAVL1 1994 broad.mit.edu 37 19 8028639 8028639 + Missense_Mutation SNP G G A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr19:8028639G>A uc002mjb.3 - 5 876 c.709C>T c.(709-711)Cca>Tca p.P237S NM_001419 NP_001410 Q15717 ELAV1_HUMAN Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) (ELAVL1), mRNA. 237 3'-UTR-mediated mRNA stabilization|multicellular organismal development cytoplasm|nucleoplasm identical protein binding|mRNA binding|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 GCGTTTCCTGGCACGTTGACG 0.632 PDE4A 5141 broad.mit.edu 37 19 10574494 10574494 + Missense_Mutation SNP C C T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr19:10574494C>T uc002moj.2 + 13 1877 c.1769C>T c.(1768-1770)gCc>gTc p.A590V PDE4A_uc021uow.1_Missense_Mutation_p.A568V|PDE4A_uc002mok.2_Missense_Mutation_p.A564V|PDE4A_uc002mol.2_Missense_Mutation_p.A529V|PDE4A_uc002mom.2_Missense_Mutation_p.A351V|PDE4A_uc002moo.2_Missense_Mutation_p.A256V NM_001111307 NP_001104777 P27815 PDE4A_HUMAN Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA. 590 Catalytic. signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) GTGCACTGTGCCGACCTCAGC 0.617 ZNF91 7644 broad.mit.edu 37 19 23542219 23542219 + Missense_Mutation SNP G G A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr19:23542219G>A uc002nre.3 - 3 3675 c.3562C>T c.(3562-3564)Ccc>Tcc p.P1188S ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Missense_Mutation_p.P1156S NM_003430 NP_003421 Q05481 ZNF91_HUMAN Homo sapiens zinc finger protein 91 (ZNF91), mRNA. 1188 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) tagagaaggggtttcactgtg 0.537 CYP2A13 1553 broad.mit.edu 37 19 41597726 41597726 + Silent SNP C C T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr19:41597726C>T uc002opt.3 + 4 753 c.744C>T c.(742-744)atC>atT p.I248I NM_000766 NP_000757 Q16696 CP2AD_HUMAN Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA. 248 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) AGGACTTCATCGCCAAGAAGG 0.557 CEACAM3 1084 broad.mit.edu 37 19 42301736 42301736 + Missense_Mutation SNP G G A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr19:42301736G>A uc002orn.1 + 1 356 c.280G>A c.(280-282)Gca>Aca p.A94T CEACAM3_uc010eia.1_Missense_Mutation_p.A94T|CEACAM3_uc002oro.1_Non-coding_Transcript NM_001815 NP_001806 P40198 CEAM3_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 3 (CEACAM3), mRNA. 94 Ig-like V-type. integral to membrane p.A94T(2)|p.A93P(1) endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1) 19 CCCAGGGGCCGCATACAGCGG 0.463 PPP1R12C 54776 broad.mit.edu 37 19 55624065 55624065 + Silent SNP C C T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr19:55624065C>T uc002qix.3 - 1 436 c.420G>A c.(418-420)gtG>gtA p.V140V PPP1R12C_uc010yfs.2_Silent_p.V66V|PPP1R12C_uc002qiy.3_Silent_p.V140V NM_017607 NP_060077 Q9BZL4 PP12C_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA. 140 cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 22 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) AGGAGGCGGCCACGTGCAGTG 0.667 FAM136A 84908 broad.mit.edu 37 2 70524589 70524589 + Silent SNP G G A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr2:70524589G>A uc002sgq.4 - 2 326 c.249C>T c.(247-249)acC>acT p.T83T FAM136A_uc010fdp.3_Non-coding_Transcript NM_032822 NP_116211 Q96C01 F136A_HUMAN Homo sapiens family with sequence similarity 136, member A (FAM136A), mRNA. 83 mitochondrion protein binding breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 6 TGCAATGCATGGTGCACCGGG 0.512 TEKT4 150483 broad.mit.edu 37 2 95537709 95537709 + Missense_Mutation SNP G G A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr2:95537709G>A uc002stw.1 + 0 478 c.385G>A c.(385-387)Gcc>Acc p.A129T LOC442028_uc021vlc.1_Non-coding_Transcript|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript NM_144705 NP_653306 Q8WW24 TEKT4_HUMAN Homo sapiens tektin 4 (TEKT4), mRNA. 129 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 GCTGGAGCGCGCCCTGGACGC 0.657 LOC442028 442028 broad.mit.edu 37 2 95539132 95539132 + Splice_Site SNP A A G rs74376788 by1000genomes TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr2:95539132A>G uc021vlc.1 - 7 c.805_splice c.e7+1 LOC442028_uc002stv.1_Splice_Site|TEKT4_uc002stw.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript Homo sapiens uncharacterized LOC442028 (LOC442028), non-coding RNA. AGCAGAACTTACACAGTCAGA 0.567 SCN1A 6323 broad.mit.edu 37 2 166847871 166847871 + Nonsense_Mutation SNP T T A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr2:166847871T>A uc002udo.4 - 27 6141 c.5914A>T c.(5914-5916)Aaa>Taa p.K1972* SCN1A_uc010fpk.3_Nonsense_Mutation_p.K1944*|SCN1A_uc021vsb.1_Nonsense_Mutation_p.K1961* NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 1972 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AGATCAGTTTTTTCTGTAATA 0.363 OSBPL6 114880 broad.mit.edu 37 2 179253861 179253861 + Missense_Mutation SNP G G A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr2:179253861G>A uc002uly.3 + 21 2901 c.2357G>A c.(2356-2358)tGc>tAc p.C786Y MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_Missense_Mutation_p.C761Y|OSBPL6_uc010zfe.2_Missense_Mutation_p.C730Y|OSBPL6_uc002ulz.3_Missense_Mutation_p.C725Y|OSBPL6_uc002uma.3_Missense_Mutation_p.C765Y NM_001201480 NP_001188409 Q9BZF3 OSBL6_HUMAN Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA. 761 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) GTTTGCATTTGCAAACTCACA 0.333 TTN 7273 broad.mit.edu 37 2 179634524 179634524 + Missense_Mutation SNP C C A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr2:179634524C>A uc021vsy.1 - 36 9009 c.8784G>T c.(8782-8784)aaG>aaT p.K2928N TTN_uc021vsz.1_Missense_Mutation_p.K2882N|TTN_uc021vta.1_Missense_Mutation_p.K2882N|TTN_uc021vtb.1_Missense_Mutation_p.K2882N|TTN_uc002unb.2_Missense_Mutation_p.K2928N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 2928 Ig-like 16. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCACAACTATCTTGAACTTTT 0.458 ZSWIM2 151112 broad.mit.edu 37 2 187692829 187692829 + Missense_Mutation SNP C C G TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr2:187692829C>G uc002upu.1 - 8 1824 c.1784G>C c.(1783-1785)aGt>aCt p.S595T NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA. 595 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) CATACAGTTACTATACCTTTT 0.338 FAM126B 285172 broad.mit.edu 37 2 201846441 201846441 + Missense_Mutation SNP C C T rs138872845 TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr2:201846441C>T uc002uws.4 - 11 1333 c.1145G>A c.(1144-1146)cGt>cAt p.R382H FAM126B_uc002uwu.3_Missense_Mutation_p.R356H|FAM126B_uc002uwv.3_Missense_Mutation_p.R382H NM_173822 NP_776183 Q8IXS8 F126B_HUMAN Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA. 382 intracellular endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 CTTGGCTGAACGCCCAGTTGC 0.493 CHRNG 1146 broad.mit.edu 37 2 233405386 233405386 + Silent SNP C C T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr2:233405386C>T uc002vsx.1 + 3 336 c.315C>T c.(313-315)acC>acT p.T105T CHRNG_uc010fyd.3_Silent_p.T105T|CHRNG_uc010fye.1_Silent_p.T105T NM_005199 NP_005190 P07510 ACHG_HUMAN Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA. 105 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) TGCCGTCCACCATGGTGTGGC 0.652 PREX1 57580 broad.mit.edu 37 20 47309262 47309262 + Silent SNP C C T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr20:47309262C>T uc002xtw.1 - 7 1007 c.984G>A c.(982-984)agG>agA p.R328R NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA. 328 PH. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) TGATTCGACCCCTGAAGATGT 0.572 TPTE 7179 broad.mit.edu 37 21 10906987 10906987 + Missense_Mutation SNP C C A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr21:10906987C>A uc002yip.1 - 23 1942 c.1574G>T c.(1573-1575)aGa>aTa p.R525I TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.R507I|TPTE_uc002yir.1_Missense_Mutation_p.R487I|TPTE_uc010gkv.1_Missense_Mutation_p.R387I NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 525 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.T524I(1)|p.T524S(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGGATAAATTCTCCGTGCTTT 0.358 B3GALT5 10317 broad.mit.edu 37 21 41033203 41033203 + Missense_Mutation SNP T T G TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr21:41033203T>G uc021wjj.1 + 0 717 c.717T>G c.(715-717)atT>atG p.I239M B3GALT5_uc002yyb.1_Missense_Mutation_p.I239M|B3GALT5_uc002yye.2_Missense_Mutation_p.I239M|B3GALT5_uc002yyi.1_Missense_Mutation_p.I239M|B3GALT5_uc002yyj.1_Missense_Mutation_p.I239M|B3GALT5_uc002yyk.1_Missense_Mutation_p.I239M|B3GALT5_uc002yyl.1_Missense_Mutation_p.I239M|B3GALT5_uc002yym.1_Missense_Mutation_p.I239M NM_033173 NP_149363 Q9Y2C3 B3GT5_HUMAN Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 (B3GALT5), transcript variant 5, mRNA. 239 protein glycosylation endoplasmic reticulum|Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 16 Prostate(19;2.55e-06) TCCCATACATTAAACTGGAAG 0.562 SLC35E4 339665 broad.mit.edu 37 22 31032455 31032455 + Frame_Shift_Del DEL G G - TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr22:31032455delG uc003ais.1 + 0 663 c.18delG c.(16-18)ccgfs p.P6fs SLC35E4_uc003ait.3_5'UTR NM_001001479 NP_001001479 Q6ICL7 S35E4_HUMAN Homo sapiens solute carrier family 35, member E4 (SLC35E4), mRNA. 6 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 10 GCTGCCCGCCGGAGCACCATG 0.701 GTSE1 51512 broad.mit.edu 37 22 46708130 46708130 + Silent SNP G G A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr22:46708130G>A uc011aqy.2 + 4 1067 c.855G>A c.(853-855)ccG>ccA p.P285P GTSE1_uc011aqz.2_Silent_p.P132P NM_016426 NP_057510 Q9NYZ3 GTSE1_HUMAN Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA. 266 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) AACCTGCCCCGGGTGCTGTCA 0.577 ITPR1 3708 broad.mit.edu 37 3 4716846 4716846 + Missense_Mutation SNP G G A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr3:4716846G>A uc003bqc.3 + 21 2998 c.2648G>A c.(2647-2649)tGt>tAt p.C883Y ITPR1_uc021wsi.1_Missense_Mutation_p.C898Y|ITPR1_uc021wsj.1_Missense_Mutation_p.C883Y|ITPR1_uc011asu.2_Intron NM_001168272 NP_001161744 Q14643 ITPR1_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA. 898 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) ATATTGGACTGTGTACATGTG 0.393 SRGAP3 9901 broad.mit.edu 37 3 9034619 9034619 + Silent SNP C C T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr3:9034619C>T uc003brf.1 - 19 3205 c.2529G>A c.(2527-2529)tcG>tcA p.S843S SRGAP3_uc003brg.1_Silent_p.S819S NM_014850 NP_055665 O43295 SRGP2_HUMAN Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA. 843 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) AGCCGTAATCCGAGATGTGCT 0.557 T RAF1 pilocytic astrocytoma SLC6A6 6533 broad.mit.edu 37 3 14509599 14509599 + Missense_Mutation SNP C C A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr3:14509599C>A uc010heg.3 + 8 1274 c.975C>A c.(973-975)gaC>gaA p.D325E SLC6A6_uc003byq.3_Missense_Mutation_p.D325E|SLC6A6_uc003byr.3_Intron NM_001134367 NP_003034 P31641 SC6A6_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA. 325 cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 AACTTAGGGACTGTATGCTGC 0.453 OREG0015421 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ADCY5 111 broad.mit.edu 37 3 123003491 123003491 + Missense_Mutation SNP C C A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr3:123003491C>A uc003egh.2 - 20 3750 c.3750G>T c.(3748-3750)atG>atT p.M1250I ADCY5_uc021xdd.1_Missense_Mutation_p.M900I|ADCY5_uc003egg.2_Missense_Mutation_p.M908I NM_183357 NP_899200 O95622 ADCY5_HUMAN Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA. 1250 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) GGAAGTAGGTCATCATCTCGC 0.607 ATP2C1 27032 broad.mit.edu 37 3 130672707 130672707 + Missense_Mutation SNP A A G TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr3:130672707A>G uc011bli.2 + 7 972 c.676A>G c.(676-678)Aca>Gca p.T226A ATP2C1_uc011blg.2_Missense_Mutation_p.T226A|ATP2C1_uc011blh.2_Missense_Mutation_p.T187A|ATP2C1_uc003enk.3_Missense_Mutation_p.T176A|ATP2C1_uc003enl.3_Missense_Mutation_p.T192A|ATP2C1_uc003enm.3_Missense_Mutation_p.T192A|ATP2C1_uc003enn.3_Missense_Mutation_p.T176A|ATP2C1_uc003eno.3_Missense_Mutation_p.T192A|ATP2C1_uc003enp.3_Missense_Mutation_p.T192A|ATP2C1_uc003ent.3_Missense_Mutation_p.T192A|ATP2C1_uc003ens.3_Missense_Mutation_p.T192A NM_001199180 NP_001186109 P98194 AT2C1_HUMAN Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA. 192 actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) GACAGGTGAGACAACGCCTTG 0.438 Hailey-Hailey disease AADACL2 344752 broad.mit.edu 37 3 151475174 151475174 + Missense_Mutation SNP C C T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr3:151475174C>T uc003ezc.3 + 4 1118 c.998C>T c.(997-999)aCc>aTc p.T333I MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.T120I NM_207365 NP_997248 Q6P093 ADCL2_HUMAN Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA. 333 extracellular region|integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2) 24 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) TTGCCACTAACCTATATTCTT 0.378 PIK3CA 5290 broad.mit.edu 37 3 178928081 178928081 + Missense_Mutation SNP A A C TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr3:178928081A>C uc003fjk.3 + 7 1516 c.1359A>C c.(1357-1359)gaA>gaC p.E453D NM_006218 NP_006209 P42336 PK3CA_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA. 453 C2 PI3K-type. E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E453K(9)|p.E453Q(3)|p.P449_L455del(2)|p.G451_L456>V(2)|p.H450fs*9(1)|p.E453A(1)|p.E453del(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) ATGGATTAGAAGATTTGCTGA 0.348 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) PIK3CA 5290 broad.mit.edu 37 3 178928087 178928101 + In_Frame_Del DEL GCTGAACCCTATTGG GCTGAACCCTATTGG - TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr3:178928087_178928101delGCTGAACCCTATTGG uc003fjk.3 + 7 1522_1536 c.1365_1379delGCTGAACCCTATTGG c.(1363-1380)ttgctgaaccctattggt>ttt p.455_460LLNPIG>F NM_006218 NP_006209 P42336 PK3CA_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA. 455 C2 PI3K-type. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.N457K(2)|p.G451_L456>V(2)|p.H450fs*9(1)|p.P449_L455del(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TAGAAGATTTGCTGAACCCTATTGGTGTTACTGGA 0.330 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) NAP1L5 266812 broad.mit.edu 37 4 89618484 89618486 + In_Frame_Del DEL TCC TCC - TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr4:89618484_89618486delTCC uc003hrx.3 - 0 538_540 c.420_422delGGA c.(418-423)gaggaa>gaa p.140_141EE>E HERC3_uc011cdn.1_Intron|HERC3_uc003hrw.1_Intron|HERC3_uc011cdo.1_Intron NM_153757 NP_715638 Q96NT1 NP1L5_HUMAN Homo sapiens nucleosome assembly protein 1-like 5 (NAP1L5), mRNA. 140 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) gtactcctcttcctcctcctcct 0.606 FBN2 2201 broad.mit.edu 37 5 127728897 127728897 + Missense_Mutation SNP C C T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr5:127728897C>T uc003kuu.3 - 9 1835 c.1396G>A c.(1396-1398)Ggc>Agc p.G466S FBN2_uc003kuv.2_Missense_Mutation_p.G433S NM_001999 NP_001990 P35556 FBN2_HUMAN Homo sapiens fibrillin 2 (FBN2), mRNA. 466 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GGAGAAAAGCCATTGCCTCCA 0.587 PCDHB3 56132 broad.mit.edu 37 5 140481943 140481943 + Silent SNP G G A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr5:140481943G>A uc003lio.3 + 0 1710 c.1710G>A c.(1708-1710)gcG>gcA p.A570A BC016751_uc003lin.3_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. 570 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACGGCTCCGCGCCCTGCACCG 0.711 PCDHB8 56128 broad.mit.edu 37 5 140558277 140558277 + Missense_Mutation SNP C C T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr5:140558277C>T uc011dai.2 + 0 907 c.662C>T c.(661-663)cCg>cTg p.P221L PCDHB16_uc003liv.3_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN Homo sapiens protocadherin beta 8 (PCDHB8), mRNA. 221 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P221L(2) NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTGGCTCTCCGCCCAGATCT 0.522 PCDHB13 56123 broad.mit.edu 37 5 140594357 140594357 + Missense_Mutation SNP C C T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr5:140594357C>T uc003lja.1 + 0 849 c.662C>T c.(661-663)cCg>cTg p.P221L NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN Homo sapiens protocadherin beta 13 (PCDHB13), mRNA. 221 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.P221L(2) NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTGGCTCTCCGCCCAGATCT 0.532 PCDHGC5 56107 broad.mit.edu 37 5 140782948 140782948 + Silent SNP C C T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr5:140782948C>T uc003lkh.2 + 0 429 c.429C>T c.(427-429)aaC>aaT p.N143N PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Silent_p.N143N NM_018921 NP_061744 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA. 143 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAAAAATTAACGAAATCGCGG 0.473 AFAP1L1 134265 broad.mit.edu 37 5 148687124 148687124 + Missense_Mutation SNP G G A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr5:148687124G>A uc003lqh.3 + 6 826 c.695G>A c.(694-696)cGt>cAt p.R232H AFAP1L1_uc003lqg.4_Missense_Mutation_p.R232H|AFAP1L1_uc010jgy.3_Missense_Mutation_p.R232H NM_152406 NP_689619 Q8TED9 AF1L1_HUMAN Homo sapiens actin filament associated protein 1-like 1 (AFAP1L1), transcript variant 1, mRNA. 232 PH 1. protein binding p.R232C(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGAAAAAGCGTTTCGGGCAG 0.627 FAT2 2196 broad.mit.edu 37 5 150901299 150901299 + Missense_Mutation SNP C C T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr5:150901299C>T uc003lue.4 - 17 10868 c.10855G>A c.(10855-10857)Gtg>Atg p.V3619M FAT2_uc003lud.4_Missense_Mutation_p.V312M NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 3619 Cadherin 32. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACATGCCACACGTACACATGG 0.627 MDN1 23195 broad.mit.edu 37 6 90387330 90387330 + Silent SNP G G A rs116003199 by1000genomes TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr6:90387330G>A uc003pnn.1 - 75 12614 c.12498C>T c.(12496-12498)agC>agT p.S4166S NM_014611 NP_055426 Q9NU22 MDN1_HUMAN Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA. 4166 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TGGACAATGCGCTCTGGAGAT 0.423 ASCC3 10973 broad.mit.edu 37 6 101248186 101248186 + Missense_Mutation SNP G G A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr6:101248186G>A uc003pqk.3 - 5 1446 c.1117C>T c.(1117-1119)Cgg>Tgg p.R373W ASCC3_uc011eai.1_Missense_Mutation_p.R275W|ASCC3_uc003pql.3_Missense_Mutation_p.R373W NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA. 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding p.R373W(2) breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) CTTTGTATCCGCAATTCCTTA 0.348 TMEM200A 114801 broad.mit.edu 37 6 130762663 130762663 + Missense_Mutation SNP G G A rs140251464 TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr6:130762663G>A uc003qcb.3 + 1 3474 c.1096G>A c.(1096-1098)Gga>Aga p.G366R TMEM200A_uc003qca.3_Missense_Mutation_p.G366R|TMEM200A_uc010kfh.3_Missense_Mutation_p.G366R|TMEM200A_uc010kfi.3_Missense_Mutation_p.G366R|TMEM200A_uc021zfg.1_Missense_Mutation_p.G366R NM_052913 NP_443145 Q86VY9 T200A_HUMAN Homo sapiens transmembrane protein 200A (TMEM200A), mRNA. 366 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) TATGGCTCTCGGACCTGGGGC 0.522 EGFR 1956 broad.mit.edu 37 7 55249010 55249011 + In_Frame_Ins INS - - ACAACCCCC TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr7:55249010_55249011insACAACCCCC uc003tqk.3 + 19 2554_2555 c.2308_2309insACAACCCCC c.(2308-2310)gac>gACAACCCCCac p.773_774insNPH EGFR_uc022adm.1_In_Frame_Ins_p.773_774insNPH|EGFR_uc010kzg.2_In_Frame_Ins_p.728_729insNPH|EGFR_uc022adn.1_In_Frame_Ins_p.728_729insNPH|EGFR_uc011kco.2_In_Frame_Ins_p.720_721insNPH|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_In_Frame_Ins_p.8_9insNPH NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 773 Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.H773_V774insNPH(15)|p.V769_D770insASV(14)|p.P772_H773insPR(11)|p.H773R(9)|p.V774M(5)|p.V774_C775insHV(4)|p.H773_V774insPH(3)|p.D770>GY(3)|p.H773_V774insH(3)|p.V769_D770insGVV(3)|p.D770N(2)|p.P772_H773insYNP(2)|p.P772_H773insX(2)|p.D770_P772>ASVDNR(2)|p.N771_P772insN(2)|p.N771_P772insH(2)|p.H773L(2)|p.H773Y(2)|p.V769_D770insMASVD(2)|p.N771_P772>SVDNR(2)|p.H773_V774insGH(1)|p.V769_D770insCV(1)|p.H773_V774insG(1)|p.H773_V774insQ(1)|p.P772_H773insV(1)|p.H773_V774insGNPH(1)|p.V774del(1)|p.D770fs*61(1)|p.P772_H773insHV(1)|p.V769_D770insGSV(1)|p.V774L(1)|p.V769_D770insDNV(1)|p.P772_H773insDHP(1)|p.P772_H773insTHP(1)|p.P772_H773insDNP(1)|p.N771_P772insRH(1)|p.H773>NPY(1)|p.P772_H773insQV(1)|p.D770_N771insDG(1)|p.P772H(1)|p.H773_V774>LM(1)|p.D770_N771>AGG(1)|p.P772P(1)|p.P772S(1)|p.P772R(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GGCCAGCGTGGACAACCCCCAC 0.649 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) KEL 3792 broad.mit.edu 37 7 142649600 142649600 + Missense_Mutation SNP G G T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr7:142649600G>T uc003wcb.3 - 9 1409 c.1199C>A c.(1198-1200)cCc>cAc p.P400H NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 400 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding p.P399S(1)|p.P399Q(1) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) CCTCACCATGGGTGGTTGCTC 0.552 ABP1 26 broad.mit.edu 37 7 150558187 150558187 + Missense_Mutation SNP G G A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr7:150558187G>A uc003why.1 + 5 6364 c.2146G>A c.(2146-2148)Gtg>Atg p.V716M ABP1_uc003whz.1_Missense_Mutation_p.V716M|ABP1_uc003wia.1_Missense_Mutation_p.V735M NM_001091 NP_001082 P19801 ABP1_HUMAN Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA. 716 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) CACTGTGATCGTGTGGCCTCG 0.602 DOCK5 80005 broad.mit.edu 37 8 25225732 25225732 + Silent SNP C C T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chr8:25225732C>T uc003xeg.3 + 31 3386 c.3249C>T c.(3247-3249)atC>atT p.I1083I DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Silent_p.I797I|DOCK5_uc003xei.3_Silent_p.I653I|DOCK5_uc003xej.3_Non-coding_Transcript NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA. 1083 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) GAAAGGAAATCGGCTTTAGAA 0.413 AFF2 2334 broad.mit.edu 37 X 148072810 148072810 + Missense_Mutation SNP G G A TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96b8966-e0c2-4fb6-b3f6-e76d7953d537 d7f78904-a226-488c-aff8-cbbd2d13882d g.chrX:148072810G>A uc004fcp.3 + 20 4363 c.3884G>A c.(3883-3885)cGc>cAc p.R1295H AFF2_uc004fcq.3_Missense_Mutation_p.R1285H|AFF2_uc004fcr.3_Missense_Mutation_p.R1256H|AFF2_uc011mxb.2_Missense_Mutation_p.R1260H|AFF2_uc004fcs.3_Missense_Mutation_p.R1260H|AFF2_uc011mxc.2_Missense_Mutation_p.R936H NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 1295 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding p.V1294D(1) breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) AATCTTGTCCGCTACGTTCGC 0.527