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 CROCCP2 0 broad.mit.edu 37 1 16957420 16957420 + RNA SNP G G C rs11589767 TCGA-ET-A25O-01A-11D-A17V-08 TCGA-ET-A25O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a02689-c17c-4178-bdc1-20962476fefe 931159d9-99d5-4c5b-9200-8b6aac91918f g.chr1:16957420G>C ENST00000412962.1 - 0 258 AGGGCGGAGAGAATCAGGGCA 0.701000 5 16 0 0 0.003080 0 0 MAN2C1 4123 broad.mit.edu 37 15 75660529 75660529 + Missense_Mutation SNP C C T TCGA-ET-A25O-01A-11D-A17V-08 TCGA-ET-A25O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a02689-c17c-4178-bdc1-20962476fefe 931159d9-99d5-4c5b-9200-8b6aac91918f g.chr15:75660529C>T ENST00000565683.1 - 2 123 c.112G>A c.(112-114)Gcc>Acc p.A38T MAN2C1_ENST00000267978.5_Missense_Mutation_p.A38T|MAN2C1_ENST00000569482.1_Missense_Mutation_p.A38T|MAN2C1_ENST00000563539.1_5'UTR|RP11-817O13.8_ENST00000563278.1_lincRNA|MAN2C1_ENST00000563622.1_Missense_Mutation_p.A38T NM_001256494.1 NP_001243423.1 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 38 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 44 GGGCAGCTGGCCCCAAAAAGC 0.711000 5 8 0 0 0.000602 0 0 FRG1B 0 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-ET-A25O-01A-11D-A17V-08 TCGA-ET-A25O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a02689-c17c-4178-bdc1-20962476fefe 931159d9-99d5-4c5b-9200-8b6aac91918f g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 5 69 0 0 0.001168 0 0 NBEAL2 23218 broad.mit.edu 37 3 47030166 47030166 + Missense_Mutation SNP T T C TCGA-ET-A25O-01A-11D-A17V-08 TCGA-ET-A25O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a02689-c17c-4178-bdc1-20962476fefe 931159d9-99d5-4c5b-9200-8b6aac91918f g.chr3:47030166T>C ENST00000450053.3 + 2 238 c.59T>C c.(58-60)cTg>cCg p.L20P NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.L20P NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 20 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) CAGAAGGACCTGGGTTACCTG 0.562000 3 110 0 0 0.004672 0 0 WASH2P 0 broad.mit.edu 37 2 114355098 114355098 + RNA SNP G G A TCGA-ET-A25O-01A-11D-A17V-08 TCGA-ET-A25O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a02689-c17c-4178-bdc1-20962476fefe 931159d9-99d5-4c5b-9200-8b6aac91918f g.chr2:114355098G>A ENST00000538033.2 + 0 2037 CGACCCCTCCGGTGGCCGGGC 0.647000 8 18 0 0 0.004482 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A25O-01A-11D-A17V-08 TCGA-ET-A25O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a02689-c17c-4178-bdc1-20962476fefe 931159d9-99d5-4c5b-9200-8b6aac91918f 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 15 20 0 0 0.002450 0 0 FRG1B 0 broad.mit.edu 37 20 29628310 29628310 + Silent SNP A A G rs111939959 TCGA-ET-A25O-01A-11D-A17V-08 TCGA-ET-A25O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a02689-c17c-4178-bdc1-20962476fefe 931159d9-99d5-4c5b-9200-8b6aac91918f g.chr20:29628310A>G ENST00000278882.3 + 6 692 c.312A>G c.(310-312)gcA>gcG p.A104A FRG1B_ENST00000358464.4_Silent_p.A104A|FRG1B_ENST00000439954.2_Silent_p.A109A endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTAAAACAGCAGGAGAAGAAG 0.358000 3 32 0 0 0.004672 0 0 LRRC37A2 474170 broad.mit.edu 37 17 44626432 44626432 + Missense_Mutation SNP A A C TCGA-ET-A25O-01A-11D-A17V-08 TCGA-ET-A25O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a02689-c17c-4178-bdc1-20962476fefe 931159d9-99d5-4c5b-9200-8b6aac91918f g.chr17:44626432A>C ENST00000576629.1 + 10 4422 c.3927A>C c.(3925-3927)aaA>aaC p.K1309N ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000573185.1_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.K1309N|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000329240.4_Intron A6NM11 L37A2_HUMAN leucine rich repeat containing 37, member A2 1309 integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2) 15 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) GCTTTCACAAAACTCGCTCCC 0.428000 68 243 0 0 0.003610 0 0 SEC24D 9871 broad.mit.edu 37 4 119754779 119754779 + Missense_Mutation SNP G G A TCGA-ET-A25O-01A-11D-A17V-08 TCGA-ET-A25O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a02689-c17c-4178-bdc1-20962476fefe 931159d9-99d5-4c5b-9200-8b6aac91918f g.chr4:119754779G>A ENST00000379735.5 - 2 344 c.73C>T c.(73-75)Cat>Tat p.H25Y SEC24D_ENST00000280551.6_Missense_Mutation_p.H25Y|SEC24D_ENST00000419654.2_5'UTR NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 25 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 TGCCCATAATGAGGTGGAGAA 0.443000 41 64 0 0 0.002222 0 0 OCLN 100506658 broad.mit.edu 37 5 68805542 68805542 + Missense_Mutation SNP G G A TCGA-ET-A25O-01A-11D-A17V-08 TCGA-ET-A25O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a02689-c17c-4178-bdc1-20962476fefe 931159d9-99d5-4c5b-9200-8b6aac91918f g.chr5:68805542G>A ENST00000355237.2 + 3 1061 c.625G>A c.(625-627)Ggt>Agt p.G209S OCLN_ENST00000380766.2_Missense_Mutation_p.G209S|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000396442.2_Missense_Mutation_p.G209S NM_002538.3 NP_002529.1 Q16625 OCLN_HUMAN occludin 209 MARVEL. cellular component disassembly involved in apoptosis|protein complex assembly integral to membrane|tight junction protein binding|structural molecule activity endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1) 6 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) ATCTCTATATGGTTCACAAAT 0.423000 76 97 0 0 0.003610 0 0 NOLC1 9221 broad.mit.edu 37 10 103921613 103921613 + Silent SNP A A T TCGA-ET-A25O-01A-11D-A17V-08 TCGA-ET-A25O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a02689-c17c-4178-bdc1-20962476fefe 931159d9-99d5-4c5b-9200-8b6aac91918f g.chr10:103921613A>T ENST00000405356.1 + 12 2137 c.1902A>T c.(1900-1902)ccA>ccT p.P634P NOLC1_ENST00000605788.1_Silent_p.P624P|NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000488254.2_Silent_p.P625P|NOLC1_ENST00000603742.1_Silent_p.P343P Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 624 mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) CATCATCCCCATTCCGAAGGG 0.473000 24 40 0 0 0.003330 0 0 MAS1L 116511 broad.mit.edu 37 6 29454710 29454710 + Missense_Mutation SNP T T C TCGA-ET-A25O-01A-11D-A17V-08 TCGA-ET-A25O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a02689-c17c-4178-bdc1-20962476fefe 931159d9-99d5-4c5b-9200-8b6aac91918f g.chr6:29454710T>C ENST00000377127.3 - 1 1028 c.970A>G c.(970-972)Agg>Ggg p.R324G NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 324 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity p.R324G(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 TCCTTCAGCCTTTTCTTTCTG 0.463000 3 126 0 0 0.004672 0 0 LRIT1 26103 broad.mit.edu 37 10 85997395 85997395 + Missense_Mutation SNP A A G TCGA-ET-A25O-01A-11D-A17V-08 TCGA-ET-A25O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a02689-c17c-4178-bdc1-20962476fefe 931159d9-99d5-4c5b-9200-8b6aac91918f g.chr10:85997395A>G ENST00000372105.3 - 2 191 c.170T>C c.(169-171)aTc>aCc p.I57T NM_015613.2 NP_056428.1 Q9P2V4 LRIT1_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 57 LRRNT. integral to endoplasmic reticulum membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 GTCCGGGGGGATGGACGCCGG 0.667000 3 72 0 0 0.000248 0 0 NINJ2 4815 broad.mit.edu 37 12 772557 772557 + Silent SNP C C A TCGA-ET-A25O-01A-11D-A17V-08 TCGA-ET-A25O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a02689-c17c-4178-bdc1-20962476fefe 931159d9-99d5-4c5b-9200-8b6aac91918f g.chr12:772557C>A ENST00000305108.4 - 1 388 c.108G>T c.(106-108)ccG>ccT p.P36P RP11-218M22.1_ENST00000543884.1_RNA NM_016533.4 NP_057617.2 Q9NZG7 NINJ2_HUMAN ninjurin 2 0 nervous system development|neuron cell-cell adhesion|tissue regeneration integral to plasma membrane large_intestine(3)|lung(1)|ovary(2) 6 all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185) OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508) TCACACGCACCGGGTGCCGGG 0.597000 5 194 0.00116845 0.00878671 0.001168 1 0 SPAG17 200162 broad.mit.edu 37 1 118644485 118644485 + Missense_Mutation SNP T T C TCGA-ET-A25O-01A-11D-A17V-08 TCGA-ET-A25O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a02689-c17c-4178-bdc1-20962476fefe 931159d9-99d5-4c5b-9200-8b6aac91918f g.chr1:118644485T>C ENST00000336338.5 - 5 577 c.512A>G c.(511-513)aAg>aGg p.K171R NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 171 Lys-rich. cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) ACTTGGAGCCTTTTTCTCCTT 0.438000 3 114 0 0 0.004672 0 0 TOP2A 7153 broad.mit.edu 37 17 38552660 38552660 + Missense_Mutation SNP T T C TCGA-ET-A25O-01A-11D-A17V-08 TCGA-ET-A25O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a02689-c17c-4178-bdc1-20962476fefe 931159d9-99d5-4c5b-9200-8b6aac91918f g.chr17:38552660T>C ENST00000423485.1 - 28 3753 c.3595A>G c.(3595-3597)Aag>Gag p.K1199E NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 1199 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) CCCTTGGCCTTCCCCCCTTTC 0.428000 3 107 0 0 0.004672 0 0 PKHD1 5314 broad.mit.edu 37 6 51900420 51900420 + Missense_Mutation SNP G G A TCGA-ET-A25O-01A-11D-A17V-08 TCGA-ET-A25O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a02689-c17c-4178-bdc1-20962476fefe 931159d9-99d5-4c5b-9200-8b6aac91918f g.chr6:51900420G>A ENST00000371117.3 - 28 3472 c.3197C>T c.(3196-3198)tCa>tTa p.S1066L PKHD1_ENST00000340994.4_Missense_Mutation_p.S1066L NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1066 IPT/TIG 5. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) AATTCTGCTTGAATTGCTTGT 0.453000 43 47 0 0 0.003214 0 0 CACNA2D1 781 broad.mit.edu 37 7 81695842 81695843 + Splice_Site INS - - A rs72416976 TCGA-ET-A25O-01A-11D-A17V-08 TCGA-ET-A25O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a02689-c17c-4178-bdc1-20962476fefe 931159d9-99d5-4c5b-9200-8b6aac91918f g.chr7:81695842_81695843insA ENST00000356860.3 - 8 997 c.e8-2 CACNA2D1_ENST00000356253.5_Splice_Site|CACNA2D1_ENST00000423588.1_Splice_Site NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) ATGGTGAAGCTAAAAAAAAAAA 0.272 8 24 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-ET-A25O-01A-11D-A17V-08 TCGA-ET-A25O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a02689-c17c-4178-bdc1-20962476fefe 931159d9-99d5-4c5b-9200-8b6aac91918f g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 3 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085940 11085942 + RNA DEL CAC CAC - TCGA-ET-A25O-01A-11D-A17V-08 TCGA-ET-A25O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a02689-c17c-4178-bdc1-20962476fefe 931159d9-99d5-4c5b-9200-8b6aac91918f g.chr21:11085940_11085942delCAC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 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) ccaccaccatcaccaccaccacc 0.532 3 3 --- --- --- ---