Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut TUBB8P7 0 broad.mit.edu 37 16 90161852 90161852 + RNA SNP A A G rs11076666 by1000genomes TCGA-KS-A4I7-01A-11D-A257-08 TCGA-KS-A4I7-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1653ae34-a8b7-4e15-9f41-abcffdd739b7 058e791c-92fb-4781-a27a-719d1f10755c g.chr16:90161852A>G ENST00000567960.1 + 0 588 TUBB8P7_ENST00000564451.1_RNA TAGAAAACGCAGATGAGACCT 0.498000 3 48 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-KS-A4I7-01A-11D-A257-08 TCGA-KS-A4I7-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1653ae34-a8b7-4e15-9f41-abcffdd739b7 058e791c-92fb-4781-a27a-719d1f10755c g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 16 87 0 0 1 0 0 MT-ND4L 4539 broad.mit.edu 37 MT 10608 10608 + Missense_Mutation SNP A A C TCGA-KS-A4I7-01A-11D-A257-08 TCGA-KS-A4I7-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1653ae34-a8b7-4e15-9f41-abcffdd739b7 058e791c-92fb-4781-a27a-719d1f10755c g.chrM:10608A>C ENST00000361335.1 + 1 139 c.139A>C c.(139-141)Ata>Cta p.I47L mitochondrially encoded NADH dehydrogenase 4L breast(1)|endometrium(2)|kidney(2) 5 TAGCTACTCTCATAACCCTCA 0.468000 2 0 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-KS-A4I7-01A-11D-A257-08 TCGA-KS-A4I7-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1653ae34-a8b7-4e15-9f41-abcffdd739b7 058e791c-92fb-4781-a27a-719d1f10755c g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 14 83 0 0 1 0 0 FAM66D 0 broad.mit.edu 37 8 11986096 11986096 + RNA SNP T T A TCGA-KS-A4I7-01A-11D-A257-08 TCGA-KS-A4I7-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1653ae34-a8b7-4e15-9f41-abcffdd739b7 058e791c-92fb-4781-a27a-719d1f10755c g.chr8:11986096T>A ENST00000434078.2 + 0 608 NR_027425.1 CAACTGTTCCTAAGCTTGCTT 0.502000 3 40 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16258731 16258731 + Missense_Mutation SNP A A G TCGA-KS-A4I7-01A-11D-A257-08 TCGA-KS-A4I7-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1653ae34-a8b7-4e15-9f41-abcffdd739b7 058e791c-92fb-4781-a27a-719d1f10755c g.chr1:16258731A>G ENST00000375759.3 + 11 6200 c.5996A>G c.(5995-5997)aAg>aGg p.K1999R NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1999 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CAAGGGAAAAAGGGAAAAAAT 0.567000 3 36 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32164797 32164797 + Missense_Mutation SNP G G A TCGA-KS-A4I7-01A-11D-A257-08 TCGA-KS-A4I7-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1653ae34-a8b7-4e15-9f41-abcffdd739b7 058e791c-92fb-4781-a27a-719d1f10755c g.chr6:32164797G>A ENST00000375023.3 - 28 5243 c.5105C>T c.(5104-5106)aCc>aTc p.T1702I NOTCH4_ENST00000443903.2_Missense_Mutation_p.T111I NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1702 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 CAAGGGTGTGGTCCCGTCCTC 0.602000 13 75 0 0 1 0 0 CYP2D6 1565 broad.mit.edu 37 22 42523567 42523567 + Missense_Mutation SNP T T C rs61736517 TCGA-KS-A4I7-01A-11D-A257-08 TCGA-KS-A4I7-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1653ae34-a8b7-4e15-9f41-abcffdd739b7 058e791c-92fb-4781-a27a-719d1f10755c g.chr22:42523567T>C ENST00000360608.5 - 7 1169 c.1055A>G c.(1054-1056)cAc>cGc p.H352R NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.H352R|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.H301R NM_000106.5 NP_000097.3 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, polypeptide 6 352 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GTAGGGCATGTGAGCCTGGTC 0.592000 4 28 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212589892 212589892 + Missense_Mutation SNP C C A TCGA-KS-A4I7-01A-11D-A257-08 TCGA-KS-A4I7-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1653ae34-a8b7-4e15-9f41-abcffdd739b7 058e791c-92fb-4781-a27a-719d1f10755c g.chr2:212589892C>A ENST00000342788.4 - 6 960 c.650G>T c.(649-651)tGt>tTt p.C217F ERBB4_ENST00000436443.1_Missense_Mutation_p.C217F|ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000402597.1_Missense_Mutation_p.C217F NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 217 Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TCTGCCGTCACATTGTTCTGC 0.512000 TSP Lung(8;0.080) 3 40 0.00024832 0.00024832 1 1 0 IGHV4OR15-8 0 broad.mit.edu 37 15 22473333 22473333 + RNA SNP A A G TCGA-KS-A4I7-01A-11D-A257-08 TCGA-KS-A4I7-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1653ae34-a8b7-4e15-9f41-abcffdd739b7 058e791c-92fb-4781-a27a-719d1f10755c g.chr15:22473333A>G ENST00000557788.2 - 0 20 CCAGGAGGAGAAAGAACCACA 0.512000 4 46 0 0 1 0 0 TPR 7175 broad.mit.edu 37 1 186295347 186295347 + Missense_Mutation SNP T T A TCGA-KS-A4I7-01A-11D-A257-08 TCGA-KS-A4I7-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1653ae34-a8b7-4e15-9f41-abcffdd739b7 058e791c-92fb-4781-a27a-719d1f10755c g.chr1:186295347T>A ENST00000367478.3 - 41 6206 c.5910A>T c.(5908-5910)gaA>gaT p.E1970D NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 1970 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) catcatcatcttcctcatcct 0.423000 T NTRK1 papillary thyroid 3 15 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-KS-A4I7-01A-11D-A257-08 TCGA-KS-A4I7-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1653ae34-a8b7-4e15-9f41-abcffdd739b7 058e791c-92fb-4781-a27a-719d1f10755c g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). 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.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 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 9 13 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1947077 1947078 + Frame_Shift_Ins INS - - T TCGA-KS-A4I7-01A-11D-A257-08 TCGA-KS-A4I7-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1653ae34-a8b7-4e15-9f41-abcffdd739b7 058e791c-92fb-4781-a27a-719d1f10755c g.chr2:1947077_1947078insT ENST00000399161.2 - 9 928_929 c.181_182insA c.(181-183)aaafs p.K61fs MYT1L_ENST00000428368.2_Frame_Shift_Ins_p.K61fs NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 61 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TTGTGTTTTTCTTTTTTTCGCC 0.406 2 4 --- --- --- --- CXXC4 80319 broad.mit.edu 37 4 105412465 105412467 + In_Frame_Del DEL GCC GCC - TCGA-KS-A4I7-01A-11D-A257-08 TCGA-KS-A4I7-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1653ae34-a8b7-4e15-9f41-abcffdd739b7 058e791c-92fb-4781-a27a-719d1f10755c g.chr4:105412465_105412467delGCC ENST00000394767.2 - 2 943_945 c.493_495delGGC c.(493-495)del p.G165del CXXC4_ENST00000426831.1_5'UTR|CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 0 Interaction with DVL1 (By similarity). negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TGGTCCTgctgccgccgccgccg 0.695 7 173 --- --- --- --- RP11-244K5.8 0 broad.mit.edu 37 6 150225766 150225766 + RNA DEL T T - TCGA-KS-A4I7-01A-11D-A257-08 TCGA-KS-A4I7-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1653ae34-a8b7-4e15-9f41-abcffdd739b7 058e791c-92fb-4781-a27a-719d1f10755c g.chr6:150225766delT ENST00000606915.1 + 0 889 RP11-244K5.1_ENST00000446954.1_RNA|RP11-244K5.1_ENST00000605899.1_RNA NR_045126.1 CTTGCATGGCTTTTCCCCGGA 0.542 2 4 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-KS-A4I7-01A-11D-A257-08 TCGA-KS-A4I7-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1653ae34-a8b7-4e15-9f41-abcffdd739b7 058e791c-92fb-4781-a27a-719d1f10755c g.chr11:12316384_12316389delCTCCTA ENST00000256186.2 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)cca>c p.PPT469del NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 469 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.573 14 16 --- --- --- --- ZNF688 146542 broad.mit.edu 37 16 30581350 30581351 + Frame_Shift_Ins INS - - C TCGA-KS-A4I7-01A-11D-A257-08 TCGA-KS-A4I7-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1653ae34-a8b7-4e15-9f41-abcffdd739b7 058e791c-92fb-4781-a27a-719d1f10755c g.chr16:30581350_30581351insC ENST00000223459.6 - 3 1821_1822 c.717_718insG c.(715-720)ggggcgfs p.A240fs ZNF688_ENST00000395219.1_Frame_Shift_Ins_p.A226fs NM_145271.3 NP_660314.1 P0C7X2 ZN688_HUMAN zinc finger protein 688 240 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(2)|lung(2)|ovary(1) 8 CGGCCCCGCCGCCCCCCGGAGC 0.708 11 65 --- --- --- --- KANK3 256949 broad.mit.edu 37 19 8398950 8398961 + In_Frame_Del DEL TCGCTGTCGCCA TCGCTGTCGCCA - rs111751275 TCGA-KS-A4I7-01A-11D-A257-08 TCGA-KS-A4I7-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1653ae34-a8b7-4e15-9f41-abcffdd739b7 058e791c-92fb-4781-a27a-719d1f10755c g.chr19:8398950_8398961delTCGCTGTCGCCA ENST00000330915.3 - 5 1532_1543 c.1467_1478delTGGCGACAGCGA c.(1465-1479)gag>ga p.DGDSE489del KANK3_ENST00000593649.1_In_Frame_Del_p.DGDSE489del NM_198471.2 NP_940873.2 Q6NY19 KANK3_HUMAN KN motif and ankyrin repeat domains 3 489 p.D489_S492delDGDS(2) breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC 0.717 4 4 --- --- --- --- IGLV3-12 0 broad.mit.edu 37 22 23114749 23114749 + RNA DEL T T - rs74864698 TCGA-KS-A4I7-01A-11D-A257-08 TCGA-KS-A4I7-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1653ae34-a8b7-4e15-9f41-abcffdd739b7 058e791c-92fb-4781-a27a-719d1f10755c g.chr22:23114749delT ENST00000390313.2 + 0 55 CATCCTCTCCTTTTTTTTTTT 0.498 2 4 --- --- --- --- EDA 1896 broad.mit.edu 37 X 68836236 68836237 + Frame_Shift_Ins INS - - G rs41539891 TCGA-KS-A4I7-01A-11D-A257-08 TCGA-KS-A4I7-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1653ae34-a8b7-4e15-9f41-abcffdd739b7 058e791c-92fb-4781-a27a-719d1f10755c g.chrX:68836236_68836237insG ENST00000374552.4 + 1 326_327 c.84_85insG c.(82-87)gggggcfs p.GG28fs EDA_ENST00000525810.1_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000374553.2_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000527388.1_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000338901.3_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000524573.1_Frame_Shift_Ins_p.GG28fs NM_001399.4 NP_001390.1 Q92838 EDA_HUMAN ectodysplasin A 28 cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1) 14 GCGGGTGTGGCGGGGCCCCTGC 0.708 15 74 --- --- --- ---