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 ZXDA 7789 broad.mit.edu 37 X 57935103 57935103 + Silent SNP A A G TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chrX:57935103A>G ENST00000358697.4 - 1 1964 c.1752T>C c.(1750-1752)ctT>ctC p.L584L NM_007156.4 NP_009087.1 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 584 Required for transcriptional activation. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1) 37 TGCTGGGTGTAAGAGAATTTG 0.458000 3 55 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15739116 15739116 + RNA SNP G G A TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr19:15739116G>A ENST00000441682.2 + 0 1181 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 CCTTAGGGACGACCTGGCCCA 0.607000 35 47 0 0 1 0 0 EPAS1 2034 broad.mit.edu 37 2 46607403 46607403 + Missense_Mutation SNP C C T TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr2:46607403C>T ENST00000263734.3 + 12 2102 c.1592C>T c.(1591-1593)cCc>cTc p.P531L NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 531 NTAD. angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) ACACTGGCACCCTATATCCCC 0.592000 51 44 0 0 1 0 0 DNAJC7 7266 broad.mit.edu 37 17 40141571 40141571 + Missense_Mutation SNP T T C TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr17:40141571T>C ENST00000457167.4 - 7 840 c.604A>G c.(604-606)Att>Gtt p.I202V DNAJC7_ENST00000316603.7_Missense_Mutation_p.I146V|DNAJC7_ENST00000426588.3_Missense_Mutation_p.I146V NM_003315.3 NP_003306.3 Q99615 DNJC7_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 7 202 chaperone cofactor-dependent protein refolding cytoplasm|cytoskeleton|nucleus heat shock protein binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1) 9 all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305) ATTCGTAGAATGTCACTGCAA 0.428000 24 75 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23527470 23527470 + Missense_Mutation SNP G G A TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr5:23527470G>A ENST00000296682.3 + 11 2455 c.2273G>A c.(2272-2274)cGc>cAc p.R758H NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 758 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.R758H(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CGGGGCTTTCGCGATAAGTCA 0.572000 HNSCC(3;0.000094) 5 84 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7766829 7766829 + Silent SNP C C A TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr5:7766829C>A ENST00000338316.4 + 17 2213 c.2124C>A c.(2122-2124)atC>atA p.I708I ADCY2_ENST00000537121.1_Silent_p.I528I NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 708 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 AGGAAACAATCCCTCCAACTG 0.393000 37 35 1.90571e-15 2.06452e-15 1 1 0 SRRM2 23524 broad.mit.edu 37 16 2815446 2815446 + Silent SNP T T A TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr16:2815446T>A ENST00000301740.8 + 11 5466 c.4917T>A c.(4915-4917)ggT>ggA p.G1639G NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1639 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 GCAGATCAGGTTCATCAAGCA 0.562000 13 15 0 0 1 0 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 3 32 0 0 1 0 0 GPR128 84873 broad.mit.edu 37 3 100373746 100373746 + Missense_Mutation SNP C C G TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr3:100373746C>G ENST00000273352.3 + 12 1715 c.1447C>G c.(1447-1449)Ctc>Gtc p.L483V GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.L188V NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 483 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 GATTTTCAACCTCCTCTTTGT 0.323000 20 25 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30672358 30672358 + Silent SNP G G T TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr6:30672358G>T ENST00000376406.3 - 10 5249 c.4602C>A c.(4600-4602)gcC>gcA p.A1534A MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.A1270A NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1534 Interaction with the PRKDC complex. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 GGAGCTCAGGGGCTGCGGGCA 0.592000 Other conserved DNA damage response genes 27 138 6.32553e-13 6.57855e-13 1 1 0 PSMC3 5702 broad.mit.edu 37 11 47444499 47444499 + Missense_Mutation SNP A A T TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr11:47444499A>T ENST00000298852.3 - 7 774 c.617T>A c.(616-618)aTg>aAg p.M206K PSMC3_ENST00000602866.1_Missense_Mutation_p.M190K|PSMC3_ENST00000530912.1_Missense_Mutation_p.M164K NM_002804.4 NP_002795.2 P17980 PRS6A_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 3 206 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1) 17 Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13) CTTGTGGTTCATTGGCAAGAC 0.597000 4 90 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124382194 124382194 + Silent SNP A A G rs140021846 byFrequency TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr8:124382194A>G ENST00000287394.5 - 7 905 c.798T>C c.(796-798)gaT>gaC p.D266D ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 266 Asp-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) cgtcatcatcatcatcatctt 0.368000 5 31 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713407 142713407 + RNA SNP C C T rs142431664 by1000genomes TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr1:142713407C>T ENST00000369381.2 - 0 1198 CAGTAAGAAACTCATTCTTAT 0.318000 6 33 0 0 1 0 0 AHDC1 27245 broad.mit.edu 37 1 27876195 27876195 + Missense_Mutation SNP G G A TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr1:27876195G>A ENST00000374011.2 - 6 3400 c.2432C>T c.(2431-2433)tCa>tTa p.S811L AHDC1_ENST00000247087.5_Missense_Mutation_p.S811L|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 811 Gly-rich. DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GCCACGGCCTGAGGCTCCACT 0.657000 27 23 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40356467 40356467 + Missense_Mutation SNP G G A TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr4:40356467G>A ENST00000310169.2 + 5 1509 c.1370G>A c.(1369-1371)cGa>cAa p.R457Q NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 457 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) GTCATAGACCGATTCTTCATG 0.433000 22 72 0 0 1 0 0 IL4R 3566 broad.mit.edu 37 16 27357864 27357864 + Silent SNP G G A TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr16:27357864G>A ENST00000395762.2 + 6 697 c.438G>A c.(436-438)ccG>ccA p.P146P IL4R_ENST00000449195.1_Silent_p.P146P|IL4R_ENST00000543915.2_Silent_p.P146P|IL4R_ENST00000170630.2_Silent_p.P146P|IL4R_ENST00000380922.3_Silent_p.P131P NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 146 Fibronectin type-III. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 GGAGCAACCCGTATCCCCCTG 0.522000 3 51 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187394 12187394 + Missense_Mutation SNP T T C TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr19:12187394T>C ENST00000439326.3 + 4 1634 c.1459T>C c.(1459-1461)Ttt>Ctt p.F487L ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 487 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F487L(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GCCTTCATTTTTTCCACTTCC 0.448000 3 48 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496630 20496630 + RNA SNP G G A TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr15:20496630G>A ENST00000555186.1 + 0 683 NR_038836.1 TCATGAAGGGGAAGCCGAGGG 0.438000 7 70 0 0 1 0 0 OSBPL6 114880 broad.mit.edu 37 2 179196280 179196280 + Splice_Site SNP G G A TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr2:179196280G>A ENST00000190611.4 + 6 696 c.318_splice c.e6-1 p.R107_splice OSBPL6_ENST00000409631.1_Splice_Site_p.R107_splice|OSBPL6_ENST00000409045.3_Splice_Site_p.R107_splice|OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000392505.2_Splice_Site_p.R107_splice|OSBPL6_ENST00000359685.3_Splice_Site_p.R107_splice|OSBPL6_ENST00000357080.4_Splice_Site_p.R107_splice|OSBPL6_ENST00000315022.2_Splice_Site_p.R86_splice NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 107 PH. lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) TTCTTGCAGCGTTTTTTTGTC 0.363000 4 108 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|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 4 68 0 0 1 0 0 SLC38A6 145389 broad.mit.edu 37 14 61486268 61486268 + Missense_Mutation SNP G G A TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr14:61486268G>A ENST00000354886.2 + 5 537 c.373G>A c.(373-375)Gca>Aca p.A125T SLC38A6_ENST00000456840.2_Missense_Mutation_p.A102T|SLC38A6_ENST00000267488.4_Missense_Mutation_p.A125T NM_001172702.1 NP_001166173.1 Q8IZM9 S38A6_HUMAN solute carrier family 38, member 6 125 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(108;0.0981) GTTGGTGGTGGCAGGCACCAT 0.308000 5 71 0 0 1 0 0 SAMD11 148398 broad.mit.edu 37 1 865539 865539 + Frame_Shift_Del DEL G G - TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr1:865539delG ENST00000342066.3 + 3 160 c.77delG c.(76-78)cgfs p.R26fs AL645608.1_ENST00000598827.1_Intron NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 26 nucleus breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) caccAGAACCGGGGGCGGCTG 0.672 2 4 --- --- --- --- STAG3L2 442582 broad.mit.edu 37 7 74300557 74300564 + RNA DEL AGAGCTCC AGAGCTCC - TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr7:74300557_74300564delAGAGCTCC ENST00000423186.1 - 0 573_580 P0CL84 ST3L2_HUMAN nucleus binding p.E82fs*32(2) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CGGCCAGTGAAGAGCTCCAGGCGTGCGG 0.572 4 4 --- --- --- ---