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 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 4 76 0 0 1 0 0 CCDC51 79714 broad.mit.edu 37 3 48474343 48474343 + Silent SNP C C T TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr3:48474343C>T ENST00000395694.2 - 4 796 c.711G>A c.(709-711)gcG>gcA p.A237A CCDC51_ENST00000412398.2_Silent_p.A128A|CCDC51_ENST00000395696.1_Silent_p.A237A|CCDC51_ENST00000447018.1_Silent_p.A128A|CCDC51_ENST00000442740.1_Silent_p.A128A NM_001256964.1 NP_001243893.1 Q96ER9 CCD51_HUMAN coiled-coil domain containing 51 237 integral to membrane endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GCCCCTTCTGCGCCTCCAGGA 0.597000 4 157 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143092407 143092407 + Nonsense_Mutation SNP G G A TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr6:143092407G>A ENST00000367603.2 - 5 4211 c.3469C>T c.(3469-3471)Cag>Tag p.Q1157* HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.Q1157*|HIVEP2_ENST00000367604.1_Nonsense_Mutation_p.Q1157* NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TGCATGATCTGTGGCTGGGCC 0.557000 5 137 0 0 1 0 0 CUTC 51076 broad.mit.edu 37 10 101503043 101503043 + Nonsense_Mutation SNP T T A TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr10:101503043T>A ENST00000370476.5 + 4 456 c.327T>A c.(325-327)taT>taA p.Y109* CUTC_ENST00000493385.1_3'UTR NM_015960.2 NP_057044.2 Q9NTM9 CUTC_HUMAN cutC copper transporter 109 copper ion homeostasis|copper ion transport|protein tetramerization cytoplasm|nucleus copper ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Colorectal(252;0.234) Epithelial(162;3e-10)|all cancers(201;2.37e-08) CCAAGCTTTATGGTGCTGATG 0.428000 10 147 0 0 1 0 0 PANK1 53354 broad.mit.edu 37 10 91359177 91359177 + Missense_Mutation SNP C C T TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr10:91359177C>T ENST00000307534.4 - 3 1297 c.1142G>A c.(1141-1143)gGc>gAc p.G381D PANK1_ENST00000322191.6_Missense_Mutation_p.G156D|PANK1_ENST00000371774.2_Missense_Mutation_p.G183D|PANK1_ENST00000342512.3_Missense_Mutation_p.G156D NM_148977.2 NP_683878.1 Q8TE04 PANK1_HUMAN pantothenate kinase 1 381 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 11 Bezafibrate(DB01393) TTCTGGCTTGCCGTTGAAGCC 0.428000 4 175 0 0 1 0 0 CT47B1 643311 broad.mit.edu 37 X 120008936 120008936 + Nonsense_Mutation SNP G G A TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chrX:120008936G>A ENST00000371311.3 - 1 843 c.589C>T c.(589-591)Cag>Tag p.Q197* NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 197 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 GCGGCCTCCTGGACCGACGCA 0.706000 5 85 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117768561 117768561 + Missense_Mutation SNP G G A rs76839820 TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr12:117768561G>A ENST00000317775.6 - 2 999 c.314C>T c.(313-315)aCg>aTg p.T105M NOS1_ENST00000338101.4_Missense_Mutation_p.T105M|NOS1_ENST00000344089.3_Missense_Mutation_p.T105M NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 105 Interaction with NOSIP (By similarity). multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CTCCAGGTGCGTGGTGAAACC 0.612000 5 100 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121208388 121208388 + Silent SNP A A G TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr3:121208388A>G ENST00000264233.5 - 16 3518 c.3390T>C c.(3388-3390)aaT>aaC p.N1130N NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1130 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) CAAAATTATCATTAGTTAGTG 0.348000 DNA polymerases (catalytic subunits) 26 67 0 0 1 0 0 KCTD10 83892 broad.mit.edu 37 12 109894046 109894046 + Silent SNP G G C TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr12:109894046G>C ENST00000228495.6 - 6 881 c.600C>G c.(598-600)gtC>gtG p.V200V KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540411.1_Silent_p.V174V|KCTD10_ENST00000424763.2_Silent_p.V19V|KCTD10_ENST00000540089.1_Silent_p.V19V NM_031954.3 NP_114160.1 Q9H3F6 BACD3_HUMAN potassium channel tetramerization domain containing 10 200 proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 10 TTATGAACAGGACCCTTCCGT 0.438000 12 86 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 5 83 0 0 1 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27997690 27997690 + Missense_Mutation SNP C C T TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chrX:27997690C>T ENST00000441525.1 - 1 1876 c.1762G>A c.(1762-1764)Gag>Aag p.E588K NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 588 p.E588K(1) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 CCCTCCTCCTCGGATGTATCT 0.502000 4 48 0 0 1 0 0 PRRT3 285368 broad.mit.edu 37 3 9989295 9989295 + Missense_Mutation SNP A A G TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr3:9989295A>G ENST00000412055.1 - 4 1691 c.1562T>C c.(1561-1563)aTg>aCg p.M521T PRRT3-AS1_ENST00000431558.1_RNA NM_207351.3 NP_997234.3 Q5FWE3 PRRT3_HUMAN proline-rich transmembrane protein 3 521 integral to membrane NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2) 13 GTCGGTAAGCATGTAGGCGGA 0.716000 5 20 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 6 164 0 0 1 0 0 OXR1 55074 broad.mit.edu 37 8 107752617 107752617 + Missense_Mutation SNP T T G TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr8:107752617T>G ENST00000445937.1 + 13 2390 c.2129T>G c.(2128-2130)cTt>cGt p.L710R OXR1_ENST00000517566.2_Missense_Mutation_p.L737R|OXR1_ENST00000312046.6_Missense_Mutation_p.L703R|OXR1_ENST00000452423.2_Missense_Mutation_p.L158R|OXR1_ENST00000297447.6_Missense_Mutation_p.L107R|OXR1_ENST00000531443.1_Missense_Mutation_p.L710R|OXR1_ENST00000521592.1_5'UTR|OXR1_ENST00000449762.2_Missense_Mutation_p.L80R|OXR1_ENST00000442977.2_Missense_Mutation_p.L738R NM_018002.3 NP_060472.2 Q8N573 OXR1_HUMAN oxidation resistance 1 738 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) CCATGGACTCTTGTTTATGGT 0.378000 5 98 0 0 1 0 0 ZBTB22 0 broad.mit.edu 37 6 33284252 33284252 + Nonsense_Mutation SNP G G A TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr6:33284252G>A ENST00000431845.2 - 2 593 c.442C>T c.(442-444)Cga>Tga p.R148* ZBTB22_ENST00000418724.1_Nonsense_Mutation_p.R148* NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 148 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 CGGCCTTCTCGGAGTAGTTCA 0.592000 4 190 0 0 1 0 0 ITPKB 3707 broad.mit.edu 37 1 226924202 226924202 + Missense_Mutation SNP C C T TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr1:226924202C>T ENST00000429204.1 - 2 1285 c.958G>A c.(958-960)Gat>Aat p.D320N ITPKB_ENST00000366784.1_Missense_Mutation_p.D320N|ITPKB_ENST00000272117.3_Missense_Mutation_p.D320N NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 320 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) AGGGCAAGATCCTGTGGACGG 0.627000 5 89 0 0 1 0 0 OR8K3 219473 broad.mit.edu 37 11 56085932 56085932 + Missense_Mutation SNP G G T TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr11:56085932G>T ENST00000312711.1 + 1 150 c.150G>T c.(148-150)aaG>aaT p.K50N NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) TCCTCACCAAGTTGGACTCCA 0.433000 36 140 1.08052e-11 1.13197e-11 1 1 0 PRB4 5545 broad.mit.edu 37 12 11461642 11461642 + Missense_Mutation SNP G G A TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr12:11461642G>A ENST00000279575.1 - 3 308 c.275C>T c.(274-276)cCc>cTc p.P92L PRB4_ENST00000535904.1_Missense_Mutation_p.P92L|PRB4_ENST00000445719.2_Missense_Mutation_p.P92L NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 92 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. Missing (in Ref. 7; CAA30542). extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 ATGAGGTGGGGGACCTTGGGA 0.612000 HNSCC(22;0.051) 7 662 0 0 1 0 0 SLC5A12 159963 broad.mit.edu 37 11 26702711 26702711 + Missense_Mutation SNP C C T TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr11:26702711C>T ENST00000396005.3 - 12 1675 c.1366G>A c.(1366-1368)Gcc>Acc p.A456T NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 456 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 TAAATGAAGGCCCCAATGGCC 0.468000 11 20 0 0 1 0 0 MTF1 4520 broad.mit.edu 37 1 38300818 38300818 + Missense_Mutation SNP C C T TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr1:38300818C>T ENST00000373036.4 - 6 1063 c.923G>A c.(922-924)aGt>aAt p.S308N NM_005955.2 NP_005946.2 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 308 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TTTCATGTGACTTTTGAGACT 0.403000 37 74 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74649343 74649343 + Missense_Mutation SNP T T C TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr1:74649343T>C ENST00000354431.4 - 2 217 c.26A>G c.(25-27)gAg>gGg p.E9G LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E9G|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.E9G|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.E9G NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 9 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 ACTGGTTAGCTCTTCTGTGAC 0.313000 8 20 0 0 1 0 0 RRAS2 22800 broad.mit.edu 37 11 14316390 14316390 + Missense_Mutation SNP T T A rs113954997 TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr11:14316390T>A ENST00000545643.1 - 3 546 c.233A>T c.(232-234)cAa>cTa p.Q78L RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L|RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000256196.4_Missense_Mutation_p.Q72L|RRAS2_ENST00000526063.1_5'UTR NM_012250.5 NP_036382.2 P62070 RRAS2_HUMAN related RAS viral (r-ras) oncogene homolog 2 72 endoplasmic reticulum|plasma membrane GTP binding|GTPase activity|protein binding p.Q72L(2) breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 12 Epithelial(150;0.203) AAACTCTTCTTGTCCTGCTGT 0.393000 11 114 0 0 1 0 0 KIAA1045 23349 broad.mit.edu 37 9 34978067 34978067 + Missense_Mutation SNP C C T TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr9:34978067C>T ENST00000242315.3 + 8 1244 c.1162C>T c.(1162-1164)Cgc>Tgc p.R388C KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.R388C NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 388 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) CCTGGCTGCTCGCCCCAACAG 0.542000 33 124 0 0 1 0 0 MTF1 4520 broad.mit.edu 37 1 38300817 38300817 + Missense_Mutation SNP A A T TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr1:38300817A>T ENST00000373036.4 - 6 1064 c.924T>A c.(922-924)agT>agA p.S308R NM_005955.2 NP_005946.2 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 308 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CTTTCATGTGACTTTTGAGAC 0.403000 36 73 0 0 1 0 0 LCE1F 353137 broad.mit.edu 37 1 152748983 152748983 + Missense_Mutation SNP G G A TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr1:152748983G>A ENST00000334371.2 + 1 136 c.136G>A c.(136-138)Gtc>Atc p.V46I NM_178354.2 NP_848131.1 Q5T754 LCE1F_HUMAN late cornified envelope 1F 46 keratinization kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTGCTGCAGCGTCAGCTCCGG 0.672000 6 123 0 0 1 0 0 BARHL2 343472 broad.mit.edu 37 1 91182528 91182528 + Silent SNP C C A rs141603891 TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr1:91182528C>A ENST00000370445.4 - 1 266 c.225G>T c.(223-225)ccG>ccT p.P75P NM_020063.1 NP_064447.1 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 75 nucleus sequence-specific DNA binding cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) CTACCAGATGCGGCTCCGGGG 0.632000 27 77 1.66031e-10 1.69892e-10 1 1 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 5 14 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 26 0 0 1 0 0 CTC1 80169 broad.mit.edu 37 17 8141481 8141481 + Missense_Mutation SNP T T C TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr17:8141481T>C ENST00000315684.8 - 4 522 c.515A>G c.(514-516)aAt>aGt p.N172S CTC1_ENST00000581671.1_5'UTR NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 172 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 CCCTGAGGAATTCCACCTGGC 0.557000 22 75 0 0 1 0 0 DFNB31 25861 broad.mit.edu 37 9 117168901 117168901 + Missense_Mutation SNP G G C TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr9:117168901G>C ENST00000362057.3 - 9 2138 c.1970C>G c.(1969-1971)gCc>gGc p.A657G DFNB31_ENST00000374059.3_Missense_Mutation_p.A306G|DFNB31_ENST00000265134.6_Missense_Mutation_p.A274G NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219.3 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 657 Pro-rich. inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GCTGGGGTTGGCAGGGGAGAC 0.682000 6 151 0 0 1 0 0 PCDHA1 0 broad.mit.edu 37 5 140167326 140167326 + Missense_Mutation SNP C C T TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr5:140167326C>T ENST00000504120.2 + 1 1451 c.1451C>T c.(1450-1452)gCg>gTg p.A484V PCDHA1_ENST00000394633.3_Missense_Mutation_p.A484V|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A484V NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACGCGGACGCGCAGGAGAAC 0.662000 6 172 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 4 66 0 0 1 0 0 PAN3 255967 broad.mit.edu 37 13 28794430 28794430 + Silent SNP C C T TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr13:28794430C>T ENST00000399613.1 + 5 378 c.315C>T c.(313-315)aaC>aaT p.N105N PAN3_ENST00000380958.3_Silent_p.N305N Q58A45 PAN3_HUMAN PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 305 Interaction with polyadenylate-binding protein. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) GGCTGAGTAACGTGTCCCAGT 0.423000 49 176 0 0 1 0 0 GPC3 2719 broad.mit.edu 37 X 132887602 132887602 + Missense_Mutation SNP G G C TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chrX:132887602G>C ENST00000370818.3 - 3 1384 c.939C>G c.(937-939)atC>atG p.I313M GPC3_ENST00000394299.2_Missense_Mutation_p.I313M|GPC3_ENST00000543339.1_Missense_Mutation_p.I259M NM_001164618.1|NM_004484.3 NP_001158090.1|NP_004475.1 P51654 GPC3_HUMAN glypican 3 313 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2) 36 Acute lymphoblastic leukemia(192;0.000127) CCATGTCATAGATTCTGTACA 0.443000 """T, D, Mis, N, F, S""" Wilms tumour Simpson-Golabi-Behmel syndrome 4 97 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385585 33385585 + Missense_Mutation SNP C C A TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr9:33385585C>A ENST00000541274.1 - 5 859 c.410G>T c.(409-411)gGg>gTg p.G137V AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CACCCCCCACCCCTCAACACA 0.602000 4 82 0.00024832 0.00024832 1 1 0 BAI3 577 broad.mit.edu 37 6 69653743 69653743 + Missense_Mutation SNP G G T TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr6:69653743G>T ENST00000370598.1 + 6 1873 c.1052G>T c.(1051-1053)tGg>tTg p.W351L NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 351 TSP type-1 2. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TGGGAGGAATGGTCACCATGG 0.403000 37 94 1.67305e-13 1.79547e-13 1 1 0 ZSCAN10 84891 broad.mit.edu 37 16 3140420 3140420 + Missense_Mutation SNP G G A TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr16:3140420G>A ENST00000252463.2 - 5 937 c.850C>T c.(850-852)Ccc>Tcc p.P284S ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.P202S NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 284 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 TTGGGCTCGGGGACGCCCTCA 0.662000 6 237 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195711343 195711344 + RNA INS - - T TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr3:195711343_195711344insT ENST00000427841.1 - 0 585 NR_003264.2 AAAGACTTCTCTGTGAGCTTTG 0.381 3 6 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81072446 81072446 + Frame_Shift_Del DEL C C - TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr10:81072446delC ENST00000334512.5 + 25 3716 c.3144delC c.(3142-3144)gafs p.D1048fs ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 1048 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CTTATCTGGACCCCCCCGACC 0.557 7 389 --- --- --- --- RP13-726E6.2 0 broad.mit.edu 37 11 3552650 3552651 + RNA INS - - G rs34642454 TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr11:3552650_3552651insG ENST00000527970.1 - 0 285 CAGCACCCCATGGGGGGGCCCT 0.500 5 9 --- --- --- --- OR5M10 390167 broad.mit.edu 37 11 56344440 56344440 + Frame_Shift_Del DEL C C - TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr11:56344440delC ENST00000526812.2 - 1 823 c.758delG c.(757-759)gafs p.G253fs NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 GAAGAGGGTTCCATAAAACAA 0.438 48 184 --- --- --- --- HERC2P9 0 broad.mit.edu 37 15 28913367 28913367 + RNA DEL T T - TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chr15:28913367delT ENST00000528584.1 + 0 1224 NR_036443.1 TGAGTTCTCCTTTTTTTTTTT 0.308 3 4 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44923045 44923048 + Frame_Shift_Del DEL CTAT CTAT - TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdb0244b-1099-46e0-857e-35d6ae983c53 23c04493-58ff-4af4-a2df-9dbdd52d4e48 g.chrX:44923045_44923048delCTAT ENST00000377967.4 + 16 1947_1950 c.1906_1909delCTAT c.(1906-1911)ctfs p.LS636fs KDM6A_ENST00000382899.4_Frame_Shift_Del_p.LS643fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.LS591fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.LS557fs NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 636 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.0(2) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 GAAAAACCAACTATCTAACTCCAC 0.446 """D, N, F, S""" """renal, oesophageal SCC, MM""" 6 4 --- --- --- ---