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 BNIPL 149428 broad.mit.edu 37 1 151011474 151011474 + Silent SNP G G A TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr1:151011474G>A ENST00000295294.7 + 4 768 c.159G>A c.(157-159)ctG>ctA p.L53L BNIPL_ENST00000368931.3_Silent_p.L135L NM_001159642.1 NP_001153114.1 Q7Z465 BNIPL_HUMAN BCL2/adenovirus E1B 19kD interacting protein like 135 apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate cytosol|nucleus identical protein binding autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1) 10 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CGGAGCAGCTGGACAGTGGAC 0.502 3 17 --- --- --- --- NR1I3 9970 broad.mit.edu 37 1 161203129 161203129 + Splice_Site SNP C C A TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr1:161203129C>A ENST00000367983.4 - 4 533 c.e4-1 NR1I3_ENST00000505005.1_Splice_Site|NR1I3_ENST00000511676.1_Splice_Site|NR1I3_ENST00000367979.2_Splice_Site|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000508740.1_Splice_Site|NR1I3_ENST00000412844.2_Splice_Site|NR1I3_ENST00000515452.1_Splice_Site|NR1I3_ENST00000512372.1_Splice_Site|NR1I3_ENST00000504010.1_Splice_Site|NR1I3_ENST00000442691.2_Splice_Site|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367981.3_Splice_Site|NR1I3_ENST00000437437.2_Splice_Site|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367980.2_Splice_Site|NR1I3_ENST00000428574.2_Splice_Site|NR1I3_ENST00000367985.3_Splice_Site|NR1I3_ENST00000515621.1_Splice_Site|NR1I3_ENST00000367982.4_Splice_Site|NR1I3_ENST00000506209.1_Splice_Site|NR1I3_ENST00000367984.4_Splice_Site|NR1I3_ENST00000511944.1_Intron Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GACAGTATCACTGTGCCAGGC 0.577 20 51 --- --- --- --- ARL13B 200894 broad.mit.edu 37 3 93769715 93769715 + Missense_Mutation SNP C C G TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr3:93769715C>G ENST00000535334.1 + 8 1403 c.880C>G c.(880-882)Ctt>Gtt p.L294V ARL13B_ENST00000539730.1_Missense_Mutation_p.L118V|ARL13B_ENST00000394222.3_Missense_Mutation_p.L397V|ARL13B_ENST00000303097.7_Missense_Mutation_p.L290V|ARL13B_ENST00000471138.1_Missense_Mutation_p.L397V|DHFRL1_ENST00000481631.1_Intron NM_001174151.1 NP_001167622.1 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 13B 397 GTP binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2) 10 ACTTGAGCCTCTTGGTGAAAC 0.338 9 36 --- --- --- --- TRIM42 287015 broad.mit.edu 37 3 140397286 140397286 + Missense_Mutation SNP A A G TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr3:140397286A>G ENST00000286349.3 + 1 406 c.215A>G c.(214-216)aAt>aGt p.N72S NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 72 Cys-rich. intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TCTTGGGCCAATGATCCCAAC 0.537 17 53 --- --- --- --- ADAMTS19 171019 broad.mit.edu 37 5 128994429 128994429 + Splice_Site SNP A A G TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr5:128994429A>G ENST00000274487.4 + 15 2551 c.2406A>G c.(2404-2406)gcA>gcG p.A802A CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 802 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) CCAGAGGAGCAGGTAATTTTT 0.313 13 38 --- --- --- --- PCDHA7 56141 broad.mit.edu 37 5 140215501 140215501 + Silent SNP C C T TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr5:140215501C>T ENST00000525929.1 + 1 1533 c.1533C>T c.(1531-1533)caC>caT p.H511H PCDHA7_ENST00000378125.3_Silent_p.H511H|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCAGTGCACGCGGAGAGCG 0.706 36 97 --- --- --- --- PCDHA8 56140 broad.mit.edu 37 5 140222414 140222414 + Nonsense_Mutation SNP C C A TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr5:140222414C>A ENST00000531613.1 + 1 1508 c.1508C>A c.(1507-1509)tCg>tAg p.S503* PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Nonsense_Mutation_p.S503*|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGAGCGCTCGCTGTCGAGC 0.667 18 61 --- --- --- --- PCDHB7 56129 broad.mit.edu 37 5 140554104 140554104 + Missense_Mutation SNP A A G TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr5:140554104A>G ENST00000231137.3 + 1 1862 c.1688A>G c.(1687-1689)tAc>tGc p.Y563C NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 563 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.Y563F(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCGTGCTGTACCCGCTGCAG 0.736 14 32 --- --- --- --- OR12D3 81797 broad.mit.edu 37 6 29342301 29342301 + Missense_Mutation SNP C C A TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr6:29342301C>A ENST00000396806.3 - 1 767 c.764G>T c.(763-765)gGc>gTc p.G255V OR5V1_ENST00000377154.1_Intron NM_030959.2 NP_112221.1 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, member 3 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 ATATGTGAAGCCCACAGGTCC 0.478 3 40 --- --- --- --- GLTSCR1L 23506 broad.mit.edu 37 6 42832986 42832986 + Missense_Mutation SNP C C G TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr6:42832986C>G ENST00000314073.5 + 13 3218 c.3042C>G c.(3040-3042)atC>atG p.I1014M GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.I1014M GLTSCR1-like TTAAGAACATCTTGGAACTCA 0.493 11 31 --- --- --- --- BRAF 673 broad.mit.edu 37 7 140453134 140453134 + Missense_Mutation SNP T T C rs121913377 TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr7:140453134T>C ENST00000288602.6 - 15 1861 c.1801A>G c.(1801-1803)Aaa>Gaa p.K601E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 601 Protein kinase. K -> E (in colorectal cancer).|K -> Q (in CFC syndrome). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.K601E(40)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.K601del(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) CATCGAGATTTCACTGTAGCT 0.368 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 11 40 --- --- --- --- MUC2 4583 broad.mit.edu 37 11 1075772 1075772 + Missense_Mutation SNP C C G TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr11:1075772C>G ENST00000441003.2 + 2 225 c.198C>G c.(196-198)gaC>gaG p.D66E MUC2_ENST00000359061.5_Missense_Mutation_p.D66E NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 66 VWFD 1. inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TCGCCTCCGACTGCCGAGGCT 0.642 7 9 --- --- --- --- MOGAT2 80168 broad.mit.edu 37 11 75442268 75442268 + Missense_Mutation SNP C C A TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr11:75442268C>A ENST00000526712.1 + 5 1469 c.696C>A c.(694-696)aaC>aaA p.N232K MOGAT2_ENST00000198801.5_Missense_Mutation_p.N314K Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 314 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 20 Ovarian(111;0.103) AGCTGTGCAACCTCTTCGAGG 0.567 16 44 --- --- --- --- HSPB2 3316 broad.mit.edu 37 11 111784196 111784196 + Silent SNP A A G TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr11:111784196A>G ENST00000304298.3 + 2 714 c.126A>G c.(124-126)acA>acG p.T42T CRYAB_ENST00000527950.1_Intron|HSPB2-C11orf52_ENST00000534100.1_Intron|HSPB2_ENST00000537382.1_Silent_p.T42T|CRYAB_ENST00000533475.1_Intron NM_001541.3 NP_001532.1 Q16082 HSPB2_HUMAN heat shock 27kDa protein 2 42 response to heat|response to unfolded protein cytosol|nucleus enzyme activator activity|protein binding large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051) TGACCCCCACACTCTACCATG 0.637 30 108 --- --- --- --- OR4K2 390431 broad.mit.edu 37 14 20344905 20344905 + Missense_Mutation SNP T T G TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr14:20344905T>G ENST00000298642.2 + 1 515 c.479T>G c.(478-480)gTc>gGc p.V160G NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATGAGTCAGGTCATATTTGCC 0.483 50 237 --- --- --- --- ITGAX 3687 broad.mit.edu 37 16 31382413 31382413 + Silent SNP G G A TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr16:31382413G>A ENST00000268296.4 + 15 1840 c.1719G>A c.(1717-1719)gcG>gcA p.A573A ITGAX_ENST00000562522.1_Silent_p.A573A NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 573 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 AGCGGATCGCGGGCTCCCAGC 0.582 14 50 --- --- --- --- ZNF536 9745 broad.mit.edu 37 19 31038939 31038939 + Missense_Mutation SNP C C T TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr19:31038939C>T ENST00000355537.3 + 4 2560 c.2413C>T c.(2413-2415)Cgg>Tgg p.R805W NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 805 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CCATCGGGAGCGGCAGAACGG 0.537 8 33 --- --- --- --- SERHL 94009 broad.mit.edu 37 22 42905063 42905063 + RNA SNP G G A TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr22:42905063G>A ENST00000359906.2 + 0 644 NR_027786.1 serine hydrolase-like endometrium(1)|large_intestine(1) 2 TCGTCAGCAGGGAGCTGTGTG 0.552 9 36 --- --- --- --- EHHADH 1962 broad.mit.edu 37 3 184922509 184922509 + Frame_Shift_Del DEL G G - TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr3:184922509delG ENST00000231887.3 - 6 680 c.605delC c.(604-606)ccafs p.P202fs EHHADH_ENST00000456310.1_Frame_Shift_Del_p.P106fs NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 202 Enoyl-CoA hydratase / isomerase. peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) GCTCTGAATTGGCTTGTTGCA 0.468 13 79 --- --- --- --- IKBIP 121457 broad.mit.edu 37 12 99007629 99007635 + Frame_Shift_Del DEL AGCTTAG AGCTTAG - TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr12:99007629_99007635delAGCTTAG ENST00000342502.2 - 3 1192_1198 c.781_787delCTAAGCT c.(781-789)ctaagcttafs p.LSL261fs IKBIP_ENST00000420861.1_Frame_Shift_Del_p.LSL155fs|IKBIP_ENST00000393042.3_3'UTR NM_201612.2 NP_963906.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 261 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 TCACCTTCTAAGCTTAGAAATCTATCT 0.377 17 47 --- --- --- ---