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 RGPD3 653489 broad.mit.edu 37 2 107049631 107049631 + Silent SNP C C T TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr2:107049631C>T ENST00000409886.3 - 16 2403 c.2316G>A c.(2314-2316)gcG>gcA p.A772A RGPD3_ENST00000304514.7_Silent_p.A772A NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 772 intracellular transport binding p.A772A(4) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTTCTGAATCCGCATTTCGCA 0.373000 7 214 0 0 1 0 0 SLC26A6 65010 broad.mit.edu 37 3 48667529 48667529 + Missense_Mutation SNP A A G TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr3:48667529A>G ENST00000358747.6 - 11 1575 c.1325T>C c.(1324-1326)aTg>aCg p.M442T SLC26A6_ENST00000337000.8_Missense_Mutation_p.M356T|SLC26A6_ENST00000395550.2_Missense_Mutation_p.M463T|SLC26A6_ENST00000420764.2_Missense_Mutation_p.M463T|SLC26A6_ENST00000383733.3_Missense_Mutation_p.M463T|SLC26A6_ENST00000455886.2_Missense_Mutation_p.M427T NM_001040454.1 NP_001035544.1 solute carrier family 26 (anion exchanger), member 6 SLC26A6/PRKAR2A(2) NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609) GAGGGAGCGCATGTCGCTGAG 0.667000 5 82 0 0 1 0 0 MAP3K15 389840 broad.mit.edu 37 X 19506981 19506981 + Missense_Mutation SNP G G T TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chrX:19506981G>T ENST00000338883.4 - 2 465 c.466C>A c.(466-468)Cat>Aat p.H156N NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 156 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) TCGGTGTCATGGTACAAGATC 0.458000 44 106 5.34276e-22 6.08826e-22 1 1 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 47 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb 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_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q 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 6 67 0 0 1 0 0 TRAV8-6 0 broad.mit.edu 37 14 22446888 22446888 + RNA SNP C C T rs2075483 by1000genomes TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr14:22446888C>T ENST00000390443.3 + 0 190 CCGCCCAGCTCAAGGTCCTGC 0.532000 OREG0022573 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 128 0 0 1 0 0 RAD51AP1 10635 broad.mit.edu 37 12 4657258 4657258 + Splice_Site SNP G G A TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr12:4657258G>A ENST00000228843.9 + 6 421 c.370_splice c.e6-1 p.S124_splice RAD51AP1_ENST00000544927.1_Splice_Site_p.S107_splice|RAD51AP1_ENST00000352618.4_Splice_Site_p.S107_splice|RAD51AP1_ENST00000321524.7_Splice_Site_p.S124_splice|RAD51AP1_ENST00000543041.1_5'UTR NM_001130862.1 NP_001124334.1 Q96B01 R51A1_HUMAN RAD51 associated protein 1 124 double-strand break repair via homologous recombination double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389) TTATATTTAGGCATTGAAAAA 0.254000 6 118 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195395402 195395402 + RNA SNP C C A rs149044725 by1000genomes TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr3:195395402C>A ENST00000445430.1 + 0 809 TACGGGCGCACCTACTTGAGC 0.597000 4 52 0.0293803 0.0306306 1 1 0 CDH8 1006 broad.mit.edu 37 16 61687975 61687975 + Missense_Mutation SNP C C T TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr16:61687975C>T ENST00000577390.1 - 12 2891 c.1937G>A c.(1936-1938)cGg>cAg p.R646Q CDH8_ENST00000299345.6_Missense_Mutation_p.R646Q|CDH8_ENST00000577730.1_Missense_Mutation_p.R646Q NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 646 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R646Q(1)|p.R646L(1) biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) ATTTTTATGCCGCCGTAGAGT 0.393000 5 98 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 30 0 0 1 0 0 TMEM26 219623 broad.mit.edu 37 10 63170274 63170274 + Missense_Mutation SNP C C T TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr10:63170274C>T ENST00000399298.3 - 6 1281 c.913G>A c.(913-915)Gtg>Atg p.V305M TMEM26_ENST00000507507.1_5'UTR NM_178505.6 NP_848600.2 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 305 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) GCCAGCACCACCAAGCGGTAG 0.532000 8 49 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51523917 51523917 + Silent SNP C C T rs142855690 by1000genomes TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr6:51523917C>T ENST00000371117.3 - 61 11282 c.11007G>A c.(11005-11007)tcG>tcA p.S3669S NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3669 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) TTACTGTTGGCGAATCACCAA 0.423000 11 184 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72830437 72830437 + Silent SNP T T G TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr16:72830437T>G ENST00000268489.5 - 9 6816 c.6144A>C c.(6142-6144)ccA>ccC p.P2048P ZFHX3_ENST00000397992.5_Silent_p.P1134P NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2048 Poly-Pro. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GAAGTGGGGGTGGAGGGGGTG 0.642000 7 29 0 0 1 0 0 LSAMP 4045 broad.mit.edu 37 3 115571362 115571362 + Missense_Mutation SNP G G A TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr3:115571362G>A ENST00000490035.1 - 4 1116 c.617C>T c.(616-618)gCg>gTg p.A206V LSAMP_ENST00000539563.1_Missense_Mutation_p.A203V|LSAMP_ENST00000498645.1_5'UTR NM_002338.3 NP_002329.2 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 206 Ig-like C2-type 2. cell adhesion|nervous system development anchored to membrane|plasma membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) TTTGACATCCGCCGAGGAGAC 0.527000 29 37 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32893876 32893876 + RNA SNP T T C rs147755948 by1000genomes TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr16:32893876T>C ENST00000330048.5 - 0 1381 NR_003083.2 GACAGGGGACTGGCGGTCAGC 0.612000 4 62 0 0 1 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62856224 62856224 + Missense_Mutation SNP G G A TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr17:62856224G>A ENST00000584306.1 - 11 4570 c.4040C>T c.(4039-4041)gCg>gTg p.A1347V LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A1347V|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.A324V|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.A465V|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.A385V NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1347 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 GAGGCTCTTCGCTGCAGAGAA 0.443000 7 182 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 3 37 0 0 1 0 0 MCMBP 79892 broad.mit.edu 37 10 121618395 121618395 + Splice_Site SNP C C A TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr10:121618395C>A ENST00000360003.3 - 4 497 c.e4+1 MCMBP_ENST00000369077.3_Splice_Site|MCMBP_ENST00000466047.1_Splice_Site NM_001256378.1|NM_001256379.1|NM_024834.3 NP_001243307.1|NP_001243308.1|NP_079110.1 Q9BTE3 MCMBP_HUMAN minichromosome maintenance complex binding protein cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion nucleus chromatin binding breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2) 21 AAGATACATACCCCACACTCT 0.269000 7 99 0.27861 0.27861 1 1 0 OR10Z1 128368 broad.mit.edu 37 1 158576999 158576999 + Missense_Mutation SNP C C A TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr1:158576999C>A ENST00000361284.1 + 1 771 c.771C>A c.(769-771)ttC>ttA p.F257L NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) GTGCTTCCTTCGTGTACCTGA 0.493000 14 267 4.36969e-10 4.86625e-10 1 1 0 AHNAK2 113146 broad.mit.edu 37 14 105416113 105416113 + Missense_Mutation SNP G G A TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr14:105416113G>A ENST00000333244.5 - 7 5794 c.5675C>T c.(5674-5676)cCg>cTg p.P1892L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1892 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTGGCCCTCCGGGAGCTTCAT 0.637000 11 142 0 0 1 0 0 KIF13A 63971 broad.mit.edu 37 6 17765031 17765031 + Silent SNP C C T TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr6:17765031C>T ENST00000378814.5 - 37 4583 c.4584G>A c.(4582-4584)ctG>ctA p.L1528L KIF13A_ENST00000378816.5_Silent_p.L1541L|KIF13A_ENST00000378843.2_Silent_p.L1528L|KIF13A_ENST00000378826.2_Silent_p.L1541L|KIF13A_ENST00000259711.6_Silent_p.L1576L NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 1576 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) GTGAGTTTGACAGATCTACTT 0.473000 3 34 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195395399 195395399 + RNA SNP G G A rs62287990 by1000genomes TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr3:195395399G>A ENST00000445430.1 + 0 806 GGCTACGGGCGCACCTACTTG 0.607000 4 49 0 0 1 0 0 TRAV3 0 broad.mit.edu 37 14 22192106 22192106 + RNA SNP A A G rs926027 by1000genomes TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr14:22192106A>G ENST00000390425.2 + 0 147 GACCCCCCCAATCCCGCCCGC 0.582000 4 77 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb 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 38 45 0 0 1 0 0 ITGBL1 9358 broad.mit.edu 37 13 102235682 102235682 + Silent SNP C C A TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr13:102235682C>A ENST00000376180.3 + 6 1063 c.844C>A c.(844-846)Cga>Aga p.R282R ITGBL1_ENST00000376162.3_Silent_p.R189R|ITGBL1_ENST00000545560.2_Silent_p.R141R NM_001271756.1|NM_004791.1 NP_001258685.1|NP_004782.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) 282 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGTCTATGACCGATATTCTGA 0.458000 74 101 4.83248e-46 5.6379e-46 1 1 0 REG1P 0 broad.mit.edu 37 2 79364374 79364374 + RNA SNP C C G rs11678299 by1000genomes TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr2:79364374C>G ENST00000444841.1 - 0 260 AGGTCTCATGCTCTTCATTAA 0.572000 3 39 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18842454 18842454 + RNA SNP G G A TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr22:18842454G>A ENST00000412938.1 + 0 2208 GGCTCAGAGCGGGGCTCACAG 0.632000 4 7 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 6 90 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 5 41 0 0 1 0 0 ATP6V1C2 245973 broad.mit.edu 37 2 10917819 10917820 + Frame_Shift_Del DEL AG AG - TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr2:10917819_10917820delAG ENST00000272238.4 + 11 1043_1044 c.934_935delAG c.(934-936)afs p.R312fs ATP6V1C2_ENST00000381661.3_Intron NM_001039362.1 NP_001034451.1 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 312 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) GCAGACCGACAGAGAGAGAGAG 0.604 7 121 --- --- --- --- PMS2CL 0 broad.mit.edu 37 7 6759163 6759164 + RNA DEL AG AG - TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr7:6759163_6759164delAG ENST00000486256.1 + 0 346 NR_002217.1 aaaaaaaaaaaGACCGTAGGAG 0.495 7 35 --- --- --- --- TRGC2 0 broad.mit.edu 37 7 38284884 38284885 + RNA INS - - GG rs138091320 by1000genomes TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr7:38284884_38284885insGG ENST00000436911.2 - 0 330 TTATTTGTCAAGgtgtgtgtgt 0.391 27 136 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 7 213 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74378976 74378976 + RNA DEL T T - rs35591542 TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr16:74378976delT ENST00000429810.2 - 0 1086 ACCTCTTGAAttttttttttt 0.418 2 4 --- --- --- --- AC005562.1 0 broad.mit.edu 37 17 28960996 28960997 + RNA INS - - TC TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr17:28960996_28960997insTC ENST00000417404.1 + 0 1269 SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA tttttctttttttttttttttt 0.302 7 34 --- --- --- ---