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 PGBD2 267002 broad.mit.edu 37 1 249211207 249211207 + Missense_Mutation SNP G G T TCGA-EL-A3MY-01A-11D-A21A-08 TCGA-EL-A3MY-11A-12D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c29edd-2ef1-46ef-93c6-796cf0332a2b 8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3 g.chr1:249211207G>T uc001ifh.3 + 2 571 c.424G>T c.(424-426)Gtg>Ttg p.V142L PGBD2_uc001ifg.3_Intron|PGBD2_uc009xhd.3_Missense_Mutation_p.V139L|PGBD2_uc021pmh.1_5'Flank NM_170725 NP_001017434 Q6P3X8 PGBD2_HUMAN Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA. 142 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GCTGAGTCCCGTGGGCCTTTT 0.398000 13 35 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13565980 13565980 + Missense_Mutation SNP C C T TCGA-EL-A3MY-01A-11D-A21A-08 TCGA-EL-A3MY-11A-12D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c29edd-2ef1-46ef-93c6-796cf0332a2b 8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3 g.chr19:13565980C>T uc010xne.2 - 1 576 c.340G>A c.(340-342)Gtc>Atc p.V114I CACNA1A_uc010xnd.2_Missense_Mutation_p.V114I|CACNA1A_uc021ups.1_Missense_Mutation_p.V114I|CACNA1A_uc002mwy.3_Missense_Mutation_p.V114I|CACNA1A_uc010dze.2_Missense_Mutation_p.V114I|CACNA1A_uc021upt.1_Missense_Mutation_p.V114I NM_023035 NP_075461 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 2, mRNA. 114 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) AGTGCGAGGACGATGCAATTC 0.453000 64 185 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179402314 179402314 + Missense_Mutation SNP T T C TCGA-EL-A3MY-01A-11D-A21A-08 TCGA-EL-A3MY-11A-12D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c29edd-2ef1-46ef-93c6-796cf0332a2b 8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3 g.chr2:179402314T>C uc021vsy.1 - 303 92141 c.91916A>G c.(91915-91917)tAt>tGt p.Y30639C MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.Y24334C|TTN_uc021vta.1_Missense_Mutation_p.Y24267C|TTN_uc021vtb.1_Missense_Mutation_p.Y24142C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 31566 Fibronectin type-III 123. 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) CACAGCTCCATAATATTTCTC 0.458000 3 37 0 0 1 0 0 IRX2 153572 broad.mit.edu 37 5 2748624 2748624 + Missense_Mutation SNP C C A TCGA-EL-A3MY-01A-11D-A21A-08 TCGA-EL-A3MY-11A-12D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c29edd-2ef1-46ef-93c6-796cf0332a2b 8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3 g.chr5:2748624C>A uc003jda.3 - 2 1440 c.1198G>T c.(1198-1200)Gcg>Tcg p.A400S IRX2_uc003jdb.3_Missense_Mutation_p.A400S NM_001134222 NP_150366 Q9BZI1 IRX2_HUMAN Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA. 400 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) TGCAGCGCCGCGTTCAAGTTC 0.706000 40 78 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123842613 123842613 + Missense_Mutation SNP A A G TCGA-EL-A3MY-01A-11D-A21A-08 TCGA-EL-A3MY-11A-12D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c29edd-2ef1-46ef-93c6-796cf0332a2b 8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3 g.chr10:123842613A>G uc001lfv.3 + 3 958 c.598A>G c.(598-600)Atg>Gtg p.M200V TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.M200V|TACC2_uc010qtv.2_Missense_Mutation_p.M200V NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 200 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GTCACCTGGAATGTCGCCAGT 0.582000 17 33 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227875182 227875182 + Missense_Mutation SNP C C G TCGA-EL-A3MY-01A-11D-A21A-08 TCGA-EL-A3MY-11A-12D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c29edd-2ef1-46ef-93c6-796cf0332a2b 8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3 g.chr2:227875182C>G uc021vxr.1 - 44 4470 c.4369G>C c.(4369-4371)Ggg>Cgg p.G1457R COL4A4_uc021vxs.1_Missense_Mutation_p.G1454R NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 1457 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GGGCCAAACCCTTTGGGCCCA 0.572000 6 21 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3MY-01A-11D-A21A-08 TCGA-EL-A3MY-11A-12D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c29edd-2ef1-46ef-93c6-796cf0332a2b 8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 12 38 0 0 1 0 0 E2F3 1871 broad.mit.edu 37 6 20486987 20486987 + Missense_Mutation SNP G G T TCGA-EL-A3MY-01A-11D-A21A-08 TCGA-EL-A3MY-11A-12D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c29edd-2ef1-46ef-93c6-796cf0332a2b 8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3 g.chr6:20486987G>T uc003nda.2 + 4 1279 c.952G>T c.(952-954)Gtg>Ttg p.V318L E2F3_uc021ymj.1_Missense_Mutation_p.V187L NM_001949 NP_001940 O00716 E2F3_HUMAN Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA. 318 Dimerization (Potential). G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3) 7 all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148) OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562) TGTTATAGTTGTGAAAGCCCC 0.383000 11 39 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5781833 5781833 + Missense_Mutation SNP A A C TCGA-EL-A3MY-01A-11D-A21A-08 TCGA-EL-A3MY-11A-12D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c29edd-2ef1-46ef-93c6-796cf0332a2b 8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3 g.chr10:5781833A>C uc001iij.3 + 12 2325 c.1700A>C c.(1699-1701)gAt>gCt p.D567A FAM208B_uc001iik.3_Intron NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA. 567 CCACAAAATGATGTTTTGCTC 0.378000 21 43 0 0 1 0 0 AGR2 10551 broad.mit.edu 37 7 16839390 16839390 + Missense_Mutation SNP T T C TCGA-EL-A3MY-01A-11D-A21A-08 TCGA-EL-A3MY-11A-12D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c29edd-2ef1-46ef-93c6-796cf0332a2b 8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3 g.chr7:16839390T>C uc003str.3 - 4 495 c.308A>G c.(307-309)cAg>cGg p.Q103R NM_006408 NP_006399 O95994 AGR2_HUMAN Homo sapiens anterior gradient 2 homolog (Xenopus laevis) (AGR2), mRNA. 103 mucus secretion endoplasmic reticulum|extracellular region protein binding endometrium(2)|lung(1)|prostate(1)|skin(2) 6 Lung NSC(10;0.0376)|all_lung(11;0.0855) UCEC - Uterine corpus endometrioid carcinoma (126;0.184) GAGGACAAACTGCTCTGCCAA 0.308000 6 18 0 0 1 0 0 CD3D 915 broad.mit.edu 37 11 118209888 118209888 + Missense_Mutation SNP G G A TCGA-EL-A3MY-01A-11D-A21A-08 TCGA-EL-A3MY-11A-12D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c29edd-2ef1-46ef-93c6-796cf0332a2b 8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3 g.chr11:118209888G>A uc001pss.1 - 4 642 c.505C>T c.(505-507)Cgg>Tgg p.R169W CD3D_uc001pst.1_Missense_Mutation_p.R125W|CD3D_uc021qrf.1_Missense_Mutation_p.R96W NM_000732 NP_000723 P04234 CD3D_HUMAN Homo sapiens CD3d molecule, delta (CD3-TCR complex) (CD3D), transcript variant 1, mRNA. 169 T cell costimulation|T cell receptor signaling pathway|positive thymic T cell selection cytoplasm|integral to membrane protein heterodimerization activity large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 9 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) CACTTGTTCCGAGCCCAGTTT 0.502000 31 112 0 0 1 0 0 PPP1R35 221908 broad.mit.edu 37 7 100033362 100033362 + Silent SNP G G C TCGA-EL-A3MY-01A-11D-A21A-08 TCGA-EL-A3MY-11A-12D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c29edd-2ef1-46ef-93c6-796cf0332a2b 8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3 g.chr7:100033362G>C uc003uuy.1 - 2 577 c.480C>G c.(478-480)ctC>ctG p.L160L NM_145030 NP_659467 Q8TAP8 CG047_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 35 (PPP1R35), mRNA. 160 GGTCCCGGAAGAGCCGCTTGG 0.721000 3 8 0 0 1 0 0 CDH11 1009 broad.mit.edu 37 16 64984728 64984728 + Silent SNP G G A TCGA-EL-A3MY-01A-11D-A21A-08 TCGA-EL-A3MY-11A-12D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c29edd-2ef1-46ef-93c6-796cf0332a2b 8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3 g.chr16:64984728G>A uc002eoi.3 - 11 2270 c.1836C>T c.(1834-1836)aaC>aaT p.N612N CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_Silent_p.N612N|CDH11_uc010vin.2_Silent_p.N486N NM_001797 NP_001788 P55287 CAD11_HUMAN Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA. 612 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) TCAGGCCGGCGTTCAGAATGT 0.632000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 27 61 0 0 1 0 0 PITX2 5308 broad.mit.edu 37 4 111539506 111539506 + Missense_Mutation SNP A A T TCGA-EL-A3MY-01A-11D-A21A-08 TCGA-EL-A3MY-11A-12D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c29edd-2ef1-46ef-93c6-796cf0332a2b 8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3 g.chr4:111539506A>T uc003iac.3 - 2 1388 c.750T>A c.(748-750)aaT>aaA p.N250K PITX2_uc003iaf.3_Missense_Mutation_p.N243K|PITX2_uc003iad.3_Missense_Mutation_p.N243K|PITX2_uc021xqr.1_Missense_Mutation_p.N243K|PITX2_uc003iae.3_Missense_Mutation_p.N197K|PITX2_uc021xqs.1_Missense_Mutation_p.N197K NM_000325 NP_000316 Q99697 PITX2_HUMAN Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 3, mRNA. 243 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|endometrium(3)|large_intestine(1)|lung(5) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) TGTTCAAGTTATTCAGGCTGT 0.582000 28 68 0 0 1 0 0 FAM120B 84498 broad.mit.edu 37 6 170628184 170628184 + Missense_Mutation SNP C C T TCGA-EL-A3MY-01A-11D-A21A-08 TCGA-EL-A3MY-11A-12D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c29edd-2ef1-46ef-93c6-796cf0332a2b 8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3 g.chr6:170628184C>T uc003qxp.3 + 1 1814 c.1706C>T c.(1705-1707)aCc>aTc p.T569I FAM120B_uc003qxo.1_Missense_Mutation_p.T569I|FAM120B_uc011ehd.2_Intron NM_032448 NP_115824 Q96EK7 F120B_HUMAN Homo sapiens family with sequence similarity 120B (FAM120B), mRNA. 569 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.V568L(1) endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) CAACAAGTAACCATGGTTTCA 0.388000 10 27 0 0 1 0 0 C15orf63 25764 broad.mit.edu 37 15 44093364 44093364 + Missense_Mutation SNP A A G TCGA-EL-A3MY-01A-11D-A21A-08 TCGA-EL-A3MY-11A-12D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c29edd-2ef1-46ef-93c6-796cf0332a2b 8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3 g.chr15:44093364A>G uc001ztb.3 + 3 842 c.359A>G c.(358-360)gAg>gGg p.E120G ELL3_uc001zsx.1_5'Flank|SERINC4_uc001ztc.1_5'Flank|SERINC4_uc010bds.1_5'Flank|SERINC4_uc001zte.1_5'Flank|C15orf63_uc001ztf.3_Missense_Mutation_p.E74G|C15orf63_uc021skf.1_Intron|C15orf63_uc001ztg.1_Intron NM_016400 NP_057484 Q9NX55 HYPK_HUMAN Homo sapiens chromosome 15 open reading frame 63 (C15orf63), transcript variant 1, mRNA. 74 endometrium(1)|large_intestine(1)|ovary(1) 3 AGGTCCCGGGAGCAGAAAGCC 0.493000 16 83 0 0 1 0 0 TNIP2 79155 broad.mit.edu 37 4 2757866 2757866 + Frame_Shift_Del DEL G G - TCGA-EL-A3MY-01A-11D-A21A-08 TCGA-EL-A3MY-11A-12D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c29edd-2ef1-46ef-93c6-796cf0332a2b 8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3 g.chr4:2757866delG uc003gfg.2 - 0 238 c.151delC c.(151-153)cgcfs p.R51fs TNIP2_uc003gff.2_5'Flank NM_024309 NP_001154999 Q8NFZ5 TNIP2_HUMAN Homo sapiens TNFAIP3 interacting protein 2 (TNIP2), transcript variant 1, mRNA. 51 cytosol protein binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GCGGCCAGGCGGGCGCGGAGG 0.761 2 4 --- --- --- --- USP9X 8239 broad.mit.edu 37 X 41043681 41043682 + Frame_Shift_Ins INS - - A TCGA-EL-A3MY-01A-11D-A21A-08 TCGA-EL-A3MY-11A-12D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c29edd-2ef1-46ef-93c6-796cf0332a2b 8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3 g.chrX:41043681_41043682insA uc004dfb.3 + 22 3944_3945 c.3311_3312insA c.(3310-3312)gcafs p.A1104fs USP9X_uc004dfc.3_Frame_Shift_Ins_p.A1104fs NM_001039590 NP_001034679 Q93008 USP9X_HUMAN Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA. 1104 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 CCTGCTGGTGCACCTCTGGCTG 0.401 20 41 --- --- --- ---