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 SNAP47 116841 broad.mit.edu 37 1 227935556 227935556 + Missense_Mutation SNP G G A TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr1:227935556G>A ENST00000366759.4 + 2 668 c.254G>A c.(253-255)aGc>aAc p.S85N SNAP47_ENST00000315781.5_Missense_Mutation_p.S85N|SNAP47_ENST00000366760.1_Intron NM_053052.3 NP_444280.2 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 85 DST -> TRP (in Ref. 5; AAH01332). endomembrane system|membrane|perinuclear region of cytoplasm endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 ATGACTGACAGCACTGGAGAG 0.527000 3 37 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89395333 89395333 + RNA SNP A A G TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr11:89395333A>G ENST00000532352.1 + 0 731 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 GCTTATAGGCATGGAATTGCA 0.348000 4 54 0 0 1 0 0 PLP1 5354 broad.mit.edu 37 X 103042754 103042754 + Missense_Mutation SNP G G A rs11543023 TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chrX:103042754G>A ENST00000418604.1 + 5 761 c.481G>A c.(481-483)Gtt>Att p.V161I PLP1_ENST00000361621.2_Missense_Mutation_p.V126I|PLP1_ENST00000303958.2_Missense_Mutation_p.V161I|PLP1_ENST00000466486.1_3'UTR NM_001128834.1 NP_001122306.1 P60201 MYPR_HUMAN proteolipid protein 1 161 Missing (in HLD1). cell death|synaptic transmission integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 17 TGCCCTGACCGTTGTGTGGCT 0.507000 5 230 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 5 190 0 0 1 0 0 CASD1 64921 broad.mit.edu 37 7 94166787 94166787 + Missense_Mutation SNP G G T TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr7:94166787G>T ENST00000297273.4 + 9 1134 c.847G>T c.(847-849)Gca>Tca p.A283S NM_022900.4 NP_075051.4 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 283 integral to membrane NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 31 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TTCACAGACTGCAATGATTCT 0.363000 4 170 0.150653 0.154725 1 1 0 CEP95 90799 broad.mit.edu 37 17 62512852 62512852 + Nonsense_Mutation SNP C C T TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr17:62512852C>T ENST00000556440.2 + 5 889 c.379C>T c.(379-381)Cag>Tag p.Q127* CEP95_ENST00000553412.1_Intron NM_138363.1 NP_612372.1 Q96GE4 CEP95_HUMAN centrosomal protein 95kDa 127 centrosome|spindle pole protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1) 13 TGAAACTGAACAGTATTTTAA 0.368000 13 29 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89395322 89395322 + RNA SNP C C T TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr11:89395322C>T ENST00000532352.1 + 0 720 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTTCAGAATACGCTTATAGGC 0.343000 4 44 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141245239 141245239 + Nonsense_Mutation SNP G G A TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr2:141245239G>A ENST00000389484.3 - 58 10161 c.9190C>T c.(9190-9192)Cga>Tga p.R3064* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3064 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCATTGGGTCGGCTAGAATCG 0.313000 TSP Lung(27;0.18) 6 86 0 0 1 0 0 BRIX1 55299 broad.mit.edu 37 5 34922857 34922857 + Missense_Mutation SNP T T C TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr5:34922857T>C ENST00000336767.5 + 6 857 c.494T>C c.(493-495)cTt>cCt p.L165P BRIX1_ENST00000506023.1_3'UTR NM_018321.3 NP_060791.3 Q8TDN6 BRX1_HUMAN BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) 165 Brix. ribosome biogenesis|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(1)|large_intestine(2)|lung(1) 4 TCTCGGCCCCTTTTGTCTTTT 0.343000 3 160 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7736520 7736520 + Missense_Mutation SNP C C A TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr17:7736520C>A ENST00000572933.1 + 85 14570 c.13110C>A c.(13108-13110)agC>agA p.S4370R DNAH2_ENST00000389173.2_Missense_Mutation_p.S4370R Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 4370 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTGCAGAGAGCCGCAAGAAGA 0.622000 6 49 2.0095e-06 2.31397e-06 1 1 0 TDRD6 221400 broad.mit.edu 37 6 46658465 46658465 + Nonsense_Mutation SNP C C A TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr6:46658465C>A ENST00000544460.1 + 1 2854 c.2600C>A c.(2599-2601)tCa>tAa p.S867* TDRD6_ENST00000316081.6_Nonsense_Mutation_p.S867* NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 867 Tudor 4. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) AATATTTATTCAATTAGTGAA 0.368000 4 94 0.150653 0.154725 1 1 0 TOX4 9878 broad.mit.edu 37 14 21961062 21961062 + Silent SNP T T A TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr14:21961062T>A ENST00000405508.1 + 8 1563 c.1287T>A c.(1285-1287)gcT>gcA p.A429A TOX4_ENST00000262709.3_Silent_p.A429A|TOX4_ENST00000448790.2_Silent_p.A406A O94842 TOX4_HUMAN TOX high mobility group box family member 4 429 Gln/Pro-rich.|Poly-Ala. chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding p.A429A(1) large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) CAGCAGCAGCTGCTGCTGCTG 0.582000 4 143 0 0 1 0 0 E2F3 1871 broad.mit.edu 37 6 20402610 20402610 + Silent SNP C C T TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr6:20402610C>T ENST00000346618.3 + 1 213 c.147C>T c.(145-147)gcC>gcT p.A49A NM_001949.4 NP_001940.1 O00716 E2F3_HUMAN E2F transcription factor 3 49 Poly-Ala. 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) ccgccgccgccgctgccgccg 0.741000 3 48 0 0 1 0 0 FAM86JP 0 broad.mit.edu 37 3 125647418 125647418 + RNA SNP A A T TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr3:125647418A>T ENST00000485843.1 + 0 563 NR_024251.1 GGAGATGGCAATGCTGAACCT 0.483000 4 242 0 0 1 0 0 RASGRP1 10125 broad.mit.edu 37 15 38791143 38791143 + Silent SNP G G A TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr15:38791143G>A ENST00000310803.5 - 15 1902 c.1725C>T c.(1723-1725)tgC>tgT p.C575C RASGRP1_ENST00000450598.2_Silent_p.C540C|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000559830.1_Silent_p.C540C|RASGRP1_ENST00000561180.1_Silent_p.C626C|RASGRP1_ENST00000539159.1_Silent_p.C527C NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 575 cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) AGTTCATCCCGCAGTCTGTGG 0.468000 5 387 0 0 1 0 0 ANKRD42 338699 broad.mit.edu 37 11 82935987 82935987 + Missense_Mutation SNP A A G TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr11:82935987A>G ENST00000260047.6 + 6 1469 c.674A>G c.(673-675)aAt>aGt p.N225S ANKRD42_ENST00000533342.1_Missense_Mutation_p.N226S|ANKRD42_ENST00000393392.2_Missense_Mutation_p.N198S|ANKRD42_ENST00000531895.1_Missense_Mutation_p.N226S Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 198 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 AAAGCTTTCAATGATAATGGA 0.423000 48 74 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372644 74372644 + RNA SNP A A G TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr16:74372644A>G ENST00000429810.2 - 0 1552 TACCCTTGTCAGGGGGAACAA 0.443000 3 48 0 0 1 0 0 MTMR4 9110 broad.mit.edu 37 17 56572506 56572506 + Silent SNP G G A TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr17:56572506G>A ENST00000323456.5 - 16 3121 c.2997C>T c.(2995-2997)aaC>aaT p.N999N MTMR4_ENST00000579925.1_Silent_p.N942N NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 999 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) GAGAAGGGCAGTTCAGTGGAA 0.507000 5 259 0 0 1 0 0 MRPL46 26589 broad.mit.edu 37 15 89010506 89010506 + Missense_Mutation SNP C C A TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr15:89010506C>A ENST00000312475.4 - 1 144 c.103G>T c.(103-105)Gca>Tca p.A35S NM_022163.3 NP_071446.2 Q9H2W6 RM46_HUMAN mitochondrial ribosomal protein L46 35 mitochondrion|ribosome hydrolase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 Lung NSC(78;0.203) BRCA - Breast invasive adenocarcinoma(143;0.188) GGTGCGGCTGCAAGAGCCAGG 0.677000 3 15 1 1 1 1 0 UROC1 131669 broad.mit.edu 37 3 126226844 126226844 + Missense_Mutation SNP C C T TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr3:126226844C>T ENST00000290868.2 - 5 559 c.506G>A c.(505-507)cGc>cAc p.R169H UROC1_ENST00000383579.3_Missense_Mutation_p.R169H NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 169 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) TGGGGCACTGCGGCTGCTGGG 0.597000 13 153 0 0 1 0 0 PRDM7 11105 broad.mit.edu 37 16 90126912 90126912 + Missense_Mutation SNP G G T TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr16:90126912G>T ENST00000449207.2 - 9 1089 c.1070C>A c.(1069-1071)tCt>tAt p.S357Y PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron NM_001098173.1 NP_001091643.1 Q9NQW5 PRDM7_HUMAN PR domain containing 7 357 SET. S -> Y (in Ref. 2; AAF78084). chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCATCCCCAGACCAGACCAG 0.532000 4 95 0.150653 0.154725 1 1 0 EBF1 1879 broad.mit.edu 37 5 158141175 158141175 + Missense_Mutation SNP T T C TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr5:158141175T>C ENST00000313708.6 - 12 1423 c.1141A>G c.(1141-1143)Agg>Ggg p.R381G EBF1_ENST00000517373.1_Missense_Mutation_p.R373G|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.R350G NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 381 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCCGCAGCCCTTTTGAGTATT 0.478000 T HMGA2 lipoma 4 256 0 0 1 0 0 CCDC15 80071 broad.mit.edu 37 11 124857495 124857495 + Missense_Mutation SNP A A C rs113451248 TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr11:124857495A>C ENST00000529051.1 + 8 1632 c.1373A>C c.(1372-1374)cAc>cCc p.H458P CCDC15_ENST00000344762.5_Missense_Mutation_p.H458P Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 458 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) CATGTTCTCCACAAAGACCAA 0.418000 3 105 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 2 5 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a 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 31 60 0 0 1 0 0 FUNDC2 65991 broad.mit.edu 37 X 154282927 154282927 + Silent SNP C C T TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chrX:154282927C>T ENST00000369498.3 + 5 804 c.550C>T c.(550-552)Ctg>Ttg p.L184L FUNDC2_ENST00000484175.1_3'UTR NM_023934.3 NP_076423.2 Q9BWH2 FUND2_HUMAN FUN14 domain containing 2 184 mitochondrion p.L184V(1) breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 13 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CGGAGGCTTTCTGCTTGGCAT 0.448000 11 253 0 0 1 0 0 ZNF446 55663 broad.mit.edu 37 19 58992084 58992084 + Silent SNP G G A TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr19:58992084G>A ENST00000596341.1 + 7 3411 c.1191G>A c.(1189-1191)gaG>gaA p.E397E ZNF446_ENST00000594369.1_Silent_p.E448E|ZNF446_ENST00000335841.4_3'UTR Q9NWS9 ZN446_HUMAN zinc finger protein 446 448 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) ACCGGCCGGAGGTTCCATGAG 0.657000 4 99 0 0 1 0 0 C1GALT1 56913 broad.mit.edu 37 7 7283195 7283195 + Missense_Mutation SNP A A G TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr7:7283195A>G ENST00000436587.2 + 4 1152 c.929A>G c.(928-930)tAt>tGt p.Y310C C1GALT1_ENST00000223122.2_Missense_Mutation_p.Y310C NM_020156.3 NP_064541.1 Q9NS00 C1GLT_HUMAN core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 310 angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) TCTTTTCACTATGTTGATTCT 0.353000 5 160 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181735734 181735734 + Missense_Mutation SNP T T C TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr1:181735734T>C ENST00000526775.1 + 34 4976 c.4811T>C c.(4810-4812)aTc>aCc p.I1604T CACNA1E_ENST00000367570.1_Missense_Mutation_p.I1623T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.I1574T|CACNA1E_ENST00000367573.2_Missense_Mutation_p.I1623T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.I1604T|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I1555T|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I1230T NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1623 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ATTTATGCCATCATTGGGATG 0.478000 10 9 0 0 1 0 0 IGKV6D-41 0 broad.mit.edu 37 2 90108679 90108680 + RNA INS - - T rs146434787 by1000genomes TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr2:90108679_90108680insT ENST00000390271.2 + 0 75 TTTAAATGTGATTTTTTTTTAA 0.302 2 4 --- --- --- --- LRIG1 26018 broad.mit.edu 37 3 66436625 66436627 + In_Frame_Del DEL GCT GCT - TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr3:66436625_66436627delGCT ENST00000383703.3 - 14 2242_2244 c.1639_1641delAGC c.(1639-1641)del p.S548del LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 524 Ig-like C2-type 1. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TCATGGGGGAGCTGCTGCTGCTG 0.547 7 584 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr4:147560457_147560458insGGC ENST00000281321.3 + 1 413_414 c.165_166insGGC c.(163-168)gggcgg>ggGGCgcgg p.55_56GR>GAR AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 55 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) ACGCTggtggtggcggcggcgg 0.762 4 8 --- --- --- --- PCDHB4 0 broad.mit.edu 37 5 140502486 140502487 + Frame_Shift_Ins INS - - A TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr5:140502486_140502487insA ENST00000194152.1 + 1 906_907 c.906_907insA c.(904-909)ttaaaafs p.LK302fs NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 302 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.K305fs*12(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATACTGTTGAAAAAAAAATT 0.366 10 167 --- --- --- --- DPYS 1807 broad.mit.edu 37 8 105440214 105440214 + Frame_Shift_Del DEL T T - TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr8:105440214delT ENST00000351513.2 - 6 1218 c.1086delA c.(1084-1086)aafs p.K362fs NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 362 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCACCACGCCTTTTTCCCATA 0.478 8 461 --- --- --- --- NLRC3 197358 broad.mit.edu 37 16 3594180 3594180 + RNA DEL G G - TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr16:3594180delG ENST00000301749.7 - 0 3261 NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 aaaaaaaaaaGACCTCTAACG 0.502 2 4 --- --- --- --- EIF3C 8663 broad.mit.edu 37 16 28734579 28734581 + In_Frame_Del DEL GAG GAG - TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr16:28734579_28734581delGAG ENST00000331666.6 + 9 1057_1059 c.871_873delGAG c.(871-873)del p.E294del EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del Q99613 EIF3C_HUMAN eukaryotic translation initiation factor 3, subunit C 294 Poly-Glu. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(5)|skin(1) 6 GCGCCTGGATGAGGAGGAGGAGG 0.562 10 1035 --- --- --- --- CTB-58E17.3 0 broad.mit.edu 37 17 36861701 36861703 + RNA DEL GAG GAG - TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr17:36861701_36861703delGAG ENST00000583409.1 - 0 208 CAGAGCGAGCgaggaggaggagg 0.734 3 5 --- --- --- --- GNAS-AS1 0 broad.mit.edu 37 20 57405493 57405498 + RNA DEL CATTAC CATTAC - rs115125556 by1000genomes TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr20:57405493_57405498delCATTAC ENST00000424094.2 - 0 819 GNAS-AS1_ENST00000598163.1_RNA NR_002785.2 acaccaccatcattaccaccaccacc 0.553 3 4 --- --- --- --- RP1-288L1.4 0 broad.mit.edu 37 22 35111551 35111551 + RNA DEL G G - TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chr22:35111551delG ENST00000440858.1 - 0 64 gtgccccattgctttctgttc 0.443 2 4 --- --- --- --- SPANXN2 494119 broad.mit.edu 37 X 142803692 142803692 + Frame_Shift_Del DEL T T - TCGA-EL-A3H8-01A-11D-A20C-08 TCGA-EL-A3H8-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05186c15-d6e9-4087-9b9e-0b109b8a9826 f57de21a-8553-47a8-9783-ca735dec455a g.chrX:142803692delT ENST00000370498.1 - 1 824 c.71delA c.(70-72)atfs p.N24fs NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 24 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TACCTCATCATTTTTTTTGTT 0.443 7 246 --- --- --- ---