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 AC226119.5 0 broad.mit.edu 37 4 3952899 3952899 + RNA SNP A A T rs17410906 TCGA-FY-A40N-01A-11D-A23M-08 TCGA-FY-A40N-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa g.chr4:3952899A>T ENST00000281228.8 - 0 208 FAM86EP_ENST00000313946.8_RNA AGCACCGGGCATACTTGACTG 0.557000 4 66 0 0 1 0 0 GTF2E1 2960 broad.mit.edu 37 3 120489597 120489597 + Silent SNP C C T TCGA-FY-A40N-01A-11D-A23M-08 TCGA-FY-A40N-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa g.chr3:120489597C>T ENST00000283875.5 + 3 564 c.471C>T c.(469-471)tgC>tgT p.C157C NM_005513.2 NP_005504.2 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, alpha 56kDa 157 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1) 22 GBM - Glioblastoma multiforme(114;0.159) GTACTTTTTGCCATACAGAGG 0.418000 4 128 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400799 195400799 + RNA SNP G G A rs7635172 by1000genomes TCGA-FY-A40N-01A-11D-A23M-08 TCGA-FY-A40N-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa g.chr3:195400799G>A ENST00000445430.1 + 0 1395 CAAACTCGCTGTTGGACCTGG 0.597000 3 24 0 0 1 0 0 CUL1 8454 broad.mit.edu 37 7 148427298 148427298 + Missense_Mutation SNP C C G TCGA-FY-A40N-01A-11D-A23M-08 TCGA-FY-A40N-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa g.chr7:148427298C>G ENST00000325222.4 + 2 363 c.84C>G c.(82-84)atC>atG p.I28M CUL1_ENST00000602748.1_Missense_Mutation_p.I28M|CUL1_ENST00000409469.1_Missense_Mutation_p.I28M NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 28 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) GAGCCGGCATCCAGCAGGTGT 0.547000 29 67 0 0 1 0 0 CUL1 8454 broad.mit.edu 37 7 148427233 148427233 + Nonsense_Mutation SNP C C T TCGA-FY-A40N-01A-11D-A23M-08 TCGA-FY-A40N-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa g.chr7:148427233C>T ENST00000325222.4 + 2 298 c.19C>T c.(19-21)Cag>Tag p.Q7* CUL1_ENST00000602748.1_Nonsense_Mutation_p.Q7*|CUL1_ENST00000409469.1_Nonsense_Mutation_p.Q7* NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 7 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) AACCCGGAGCCAGAACCCCCA 0.527000 32 74 0 0 1 0 0 NUPL2 11097 broad.mit.edu 37 7 23224892 23224892 + Missense_Mutation SNP G G A TCGA-FY-A40N-01A-11D-A23M-08 TCGA-FY-A40N-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa g.chr7:23224892G>A ENST00000258742.5 + 2 584 c.325G>A c.(325-327)Gag>Aag p.E109K NUPL2_ENST00000410002.3_Missense_Mutation_p.E109K|AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000487595.1_3'UTR NM_007342.2 NP_031368.1 O15504 NUPL2_HUMAN nucleoporin like 2 109 Interaction with HIV-1 Vpr. carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nuclear pore nuclear export signal receptor activity|nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TAGTCCTGATGAGCAGAAAGA 0.353000 4 83 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30735845 30735845 + Silent SNP C C G TCGA-FY-A40N-01A-11D-A23M-08 TCGA-FY-A40N-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa g.chr16:30735845C>G ENST00000262518.4 + 25 5485 c.5100C>G c.(5098-5100)ctC>ctG p.L1700L SRCAP_ENST00000395059.2_Silent_p.L1638L|SRCAP_ENST00000344771.4_Silent_p.L1542L NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1700 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CTCAGACACTCTCTTTGGGAA 0.572000 4 164 0 0 1 0 0 AC226119.5 0 broad.mit.edu 37 4 3952901 3952901 + RNA SNP A A T TCGA-FY-A40N-01A-11D-A23M-08 TCGA-FY-A40N-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa g.chr4:3952901A>T ENST00000281228.8 - 0 206 FAM86EP_ENST00000313946.8_RNA CACCGGGCATACTTGACTGAC 0.552000 4 66 0 0 1 0 0 CLCN2 1181 broad.mit.edu 37 3 184076767 184076767 + Silent SNP G G A TCGA-FY-A40N-01A-11D-A23M-08 TCGA-FY-A40N-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa g.chr3:184076767G>A ENST00000265593.4 - 2 387 c.216C>T c.(214-216)tgC>tgT p.C72C CLCN2_ENST00000344937.7_Silent_p.C72C|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Silent_p.C72C|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000457512.1_Silent_p.C72C NM_004366.5 NP_004357.3 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 72 chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) TCTCACCGCGGCATCGGGCGC 0.652000 4 95 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99641455 99641455 + Missense_Mutation SNP A A C TCGA-FY-A40N-01A-11D-A23M-08 TCGA-FY-A40N-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa g.chr14:99641455A>C ENST00000345514.2 - 3 1771 c.1505T>G c.(1504-1506)gTg>gGg p.V502G BCL11B_ENST00000357195.3_Missense_Mutation_p.V573G|BCL11B_ENST00000443726.2_Missense_Mutation_p.V379G NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 573 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) gaccccgggcACCCCACCACC 0.711000 T TLX3 T-ALL 4 5 0 0 1 0 0 SNRNP200 23020 broad.mit.edu 37 2 96950283 96950283 + Missense_Mutation SNP T T C TCGA-FY-A40N-01A-11D-A23M-08 TCGA-FY-A40N-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa g.chr2:96950283T>C ENST00000323853.5 - 31 4282 c.4205A>G c.(4204-4206)aAc>aGc p.N1402S SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 1402 Helicase ATP-binding 2. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 CACCTTCTTGTTGAGCCTGTC 0.527000 35 57 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400795 195400795 + RNA SNP C C T rs7615357 by1000genomes TCGA-FY-A40N-01A-11D-A23M-08 TCGA-FY-A40N-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa g.chr3:195400795C>T ENST00000445430.1 + 0 1391 GGGGCAAACTCGCTGTTGGAC 0.592000 3 24 0 0 1 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42115806 42115806 + Missense_Mutation SNP C C T rs149990798 TCGA-FY-A40N-01A-11D-A23M-08 TCGA-FY-A40N-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa g.chr15:42115806C>T ENST00000457542.2 + 29 4046 c.3760C>T c.(3760-3762)Cgc>Tgc p.R1254C MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R1260C|MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R1093C|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R1137C NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 1260 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) CAAGATATCCCGCAGTATCTC 0.627000 29 30 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-FY-A40N-01A-11D-A23M-08 TCGA-FY-A40N-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 4 65 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-FY-A40N-01A-11D-A23M-08 TCGA-FY-A40N-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 4 61 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39799059 39799060 + Frame_Shift_Ins INS - - G TCGA-FY-A40N-01A-11D-A23M-08 TCGA-FY-A40N-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa g.chr1:39799059_39799060insG ENST00000564288.1 + 37 7576_7577 c.6799_6800insG c.(6799-6801)ggafs p.G2267fs MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2272 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGATAGTGGCAGGGAAATTTTT 0.391 15 71 --- --- --- --- HSPD1P6 0 broad.mit.edu 37 3 36810381 36810381 + RNA DEL T T - TCGA-FY-A40N-01A-11D-A23M-08 TCGA-FY-A40N-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa g.chr3:36810381delT ENST00000424886.1 - 0 405 GAGTGAGGCCttttttttttt 0.542 2 4 --- --- --- --- RP11-3P17.4 0 broad.mit.edu 37 3 161146872 161146873 + RNA DEL AT AT - TCGA-FY-A40N-01A-11D-A23M-08 TCGA-FY-A40N-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa g.chr3:161146872_161146873delAT ENST00000473595.1 + 0 1231 NR_102265.1 TGGTGAAAAGATATATATATAT 0.342 6 12 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 TCGA-FY-A40N-01A-11D-A23M-08 TCGA-FY-A40N-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa 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 5 11 --- --- --- --- BTN2A2 10385 broad.mit.edu 37 6 26384091 26384093 + In_Frame_Del DEL CCT CCT - TCGA-FY-A40N-01A-11D-A23M-08 TCGA-FY-A40N-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa g.chr6:26384091_26384093delCCT ENST00000356709.4 + 2 153_155 c.42_44delCCT c.(40-45)tcc>tc p.SL14del BTN2A2_ENST00000352867.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000469230.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000416795.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000482536.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000432533.2_In_Frame_Del_p.SL14del NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 14 negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 TGCCAGCCTCcctcctcctcctc 0.581 8 127 --- --- --- --- STEAP2-AS1 0 broad.mit.edu 37 7 89748927 89748928 + RNA INS - - C rs138239781 by1000genomes TCGA-FY-A40N-01A-11D-A23M-08 TCGA-FY-A40N-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa g.chr7:89748927_89748928insC ENST00000478318.2 - 0 424 DPY19L2P4_ENST00000497063.1_RNA|RP5-1121E10.2_ENST00000471553.1_lincRNA GGTGCGGGCCTCCCCCTTCCCC 0.639 4 6 --- --- --- --- TIMM23 100287932 broad.mit.edu 37 10 51623197 51623198 + Frame_Shift_Ins INS - - C TCGA-FY-A40N-01A-11D-A23M-08 TCGA-FY-A40N-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa g.chr10:51623197_51623198insC ENST00000260867.4 - 1 140_141 c.17_18insG c.(16-18)gagfs p.E6fs TIMM23_ENST00000374064.3_Frame_Shift_Ins_p.E6fs|TIMM23_ENST00000374065.3_Frame_Shift_Ins_p.E6fs NM_006327.3 NP_006318.1 O14925 TIM23_HUMAN translocase of inner mitochondrial membrane 23 homolog (yeast) 6 protein targeting to mitochondrion integral to membrane|mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding endometrium(1)|large_intestine(1)|pancreas(1) 3 TGTTGCCGCTTCCCCCGCCTCC 0.634 2 4 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-FY-A40N-01A-11D-A23M-08 TCGA-FY-A40N-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2763 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.Q2726Q(9) 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) agcagcaacaacagcagcagca 0.564 21 46 --- --- --- --- GJA3 2700 broad.mit.edu 37 13 20716593 20716593 + Frame_Shift_Del DEL G G - TCGA-FY-A40N-01A-11D-A23M-08 TCGA-FY-A40N-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa g.chr13:20716593delG ENST00000241125.3 - 2 1011 c.835delC c.(835-837)tgfs p.L279fs NM_021954.3 NP_068773.2 Q9Y6H8 CXA3_HUMAN gap junction protein, alpha 3, 46kDa 279 cell-cell signaling|visual perception connexon complex|integral to membrane NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784) GCCTGTCCCAGGGGCGCAGCG 0.761 2 4 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-FY-A40N-01A-11D-A23M-08 TCGA-FY-A40N-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 2 4 --- --- --- ---