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 TUBB8P7 0 broad.mit.edu 37 16 90161578 90161578 + RNA SNP G G A rs13337896 by1000genomes TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr16:90161578G>A ENST00000567960.1 + 0 314 TUBB8P7_ENST00000564451.1_RNA p.R105H(3) GCCAAGGGACGCTACACCGAA 0.587000 4 46 0 0 1 0 0 CD3EAP 10849 broad.mit.edu 37 19 45910448 45910448 + Missense_Mutation SNP C C A rs34721735 TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr19:45910448C>A ENST00000309424.3 + 2 607 c.119C>A c.(118-120)aCg>aAg p.T40K CD3EAP_ENST00000589804.1_Missense_Mutation_p.T42K NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 40 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) GGTCCAGATACGGAGCTGTGG 0.602000 3 60 0.004672 0.0047888 1 1 0 NBPF10 100132406 broad.mit.edu 37 1 145368516 145368516 + Silent SNP G G A TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr1:145368516G>A ENST00000342960.5 + 84 10529 c.10494G>A c.(10492-10494)ccG>ccA p.P3498P NBPF10_ENST00000369338.1_Silent_p.P614P|NBPF10_ENST00000369339.2_Silent_p.P616P NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3498 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) ATTCGACTCCGTCAATGTACT 0.448000 56 416 0 0 1 0 0 KIAA0922 23240 broad.mit.edu 37 4 154506755 154506755 + Missense_Mutation SNP A A G TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr4:154506755A>G ENST00000409959.3 + 13 1352 c.1303A>G c.(1303-1305)Atg>Gtg p.M435V KIAA0922_ENST00000440693.1_Missense_Mutation_p.M435V|KIAA0922_ENST00000409663.3_Missense_Mutation_p.M434V NM_001131007.1 NP_001124479.1 A2VDJ0 T131L_HUMAN KIAA0922 434 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) GACCAAGCACATGTTAAAGGT 0.323000 24 69 0 0 1 0 0 LILRB2 0 broad.mit.edu 37 19 54782291 54782291 + Missense_Mutation SNP C C T TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr19:54782291C>T ENST00000391748.1 - 7 1208 c.1081G>A c.(1081-1083)Gca>Aca p.A361T LILRB2_ENST00000434421.1_Missense_Mutation_p.A245T|LILRB2_ENST00000391749.4_Missense_Mutation_p.A361T|LILRB2_ENST00000391746.1_Missense_Mutation_p.A361T|LILRB2_ENST00000314446.5_Missense_Mutation_p.A361T NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 361 Ig-like C2-type 4. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GCATCAGCTGCTCCCGCCTTG 0.577000 5 68 0 0 1 0 0 VIPR2 7434 broad.mit.edu 37 7 158823428 158823428 + Missense_Mutation SNP G G T TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr7:158823428G>T ENST00000262178.2 - 13 1381 c.1196C>A c.(1195-1197)gCg>gAg p.A399E VIPR2_ENST00000402066.1_Missense_Mutation_p.A540E|VIPR2_ENST00000377633.3_Missense_Mutation_p.A383E NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 399 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) ATCCCGGCTCGCGGACGGGGT 0.701000 2 3 0.0784 0.0784 1 1 0 ODAM 54959 broad.mit.edu 37 4 71063664 71063664 + Silent SNP A A G TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr4:71063664A>G ENST00000396094.2 + 4 213 c.165A>G c.(163-165)ccA>ccG p.P55P NM_017855.3 NP_060325.3 A1E959 ODAM_HUMAN odontogenic, ameloblast asssociated 55 biomineral tissue development|odontogenesis of dentine-containing tooth fibril NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2) 20 CATGGATTCCACCTTTCTCTG 0.423000 10 108 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 177001793 177001793 + Missense_Mutation SNP C C T rs148328689 TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr1:177001793C>T ENST00000367654.2 - 3 677 c.664G>A c.(664-666)Gtg>Atg p.V222M ASTN1_ENST00000424564.2_Missense_Mutation_p.V222M|ASTN1_ENST00000361833.2_Missense_Mutation_p.V222M|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.V222M O14525 ASTN1_HUMAN astrotactin 1 222 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TGGCCCTGCACGCGGGCATTG 0.602000 4 52 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) 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) ggaaggggaaaaaaagaaggg 0.413000 3 57 0 0 1 0 0 P2RY8 286530 broad.mit.edu 37 X 1584769 1584769 + Missense_Mutation SNP C C G TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chrX:1584769C>G ENST00000381297.4 - 2 893 c.683G>C c.(682-684)gGc>gCc p.G228A NM_178129.4 NP_835230.1 Q86VZ1 P2RY8_HUMAN purinergic receptor P2Y, G-protein coupled, 8 228 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CTGCTCCCGGCCGTGCGCCTC 0.642000 T CRLF2 """B-ALL, Downs associated ALL""" 3 24 0 0 1 0 0 C2orf88 84281 broad.mit.edu 37 2 191064711 191064711 + Missense_Mutation SNP T T C TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr2:191064711T>C ENST00000340623.4 + 2 536 c.125T>C c.(124-126)gTt>gCt p.V42A C2orf88_ENST00000396974.2_Missense_Mutation_p.V42A|C2orf88_ENST00000443551.2_Missense_Mutation_p.V42A|C2orf88_ENST00000409870.1_Missense_Mutation_p.V42A NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2 NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2 Q9BSF0 CB088_HUMAN chromosome 2 open reading frame 88 42 kidney(1)|large_intestine(1)|lung(1) 3 GCTTCTCCAGTTAATGTCAAA 0.458000 17 116 0 0 1 0 0 GLRA2 2742 broad.mit.edu 37 X 14548194 14548194 + Silent SNP A A G TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chrX:14548194A>G ENST00000218075.4 + 1 545 c.15A>G c.(13-15)ctA>ctG p.L5L GLRA2_ENST00000355020.4_Silent_p.L5L|GLRA2_ENST00000443437.2_5'UTR NM_002063.3 NP_002054.1 P23416 GLRA2_HUMAN glycine receptor, alpha 2 5 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) ACCGGCAGCTAGTGAACATTT 0.378000 14 86 0 0 1 0 0 GALC 2581 broad.mit.edu 37 14 88454498 88454498 + Silent SNP C C A TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr14:88454498C>A ENST00000261304.2 - 3 424 c.318G>T c.(316-318)ggG>ggT p.G106G GALC_ENST00000393569.2_Silent_p.G80G|GALC_ENST00000554916.1_5'UTR|GALC_ENST00000544807.2_Silent_p.G50G|GALC_ENST00000393568.4_Silent_p.G83G NM_000153.3|NM_001201401.1 NP_000144.2|NP_001188330.1 P54803 GALC_HUMAN galactosylceramidase 106 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CTGTTGTCTGCCCATCACCAC 0.363000 3 46 0.00024832 0.000261054 1 1 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 4 34 0 0 1 0 0 FAM83G 644815 broad.mit.edu 37 17 18880902 18880902 + Missense_Mutation SNP C C T TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr17:18880902C>T ENST00000388995.6 - 5 2300 c.2077G>A c.(2077-2079)Gca>Aca p.A693T SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.A693T|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A693T|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 693 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 CCCACCTGTGCCTCCTTGTCT 0.632000 17 40 0 0 1 0 0 CENPI 2491 broad.mit.edu 37 X 100400090 100400090 + Missense_Mutation SNP A A G TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chrX:100400090A>G ENST00000372927.1 + 16 1880 c.1603A>G c.(1603-1605)Aaa>Gaa p.K535E CENPI_ENST00000218507.5_Missense_Mutation_p.K535E|CENPI_ENST00000423383.1_Missense_Mutation_p.K535E NM_006733.2 NP_006724.2 Q92674 CENPI_HUMAN centromere protein I 535 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2) 30 CTCTGTGTCTAAACTGATCCA 0.398000 14 105 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151821338 151821338 + Missense_Mutation SNP G G A TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr4:151821338G>A ENST00000535741.1 - 14 2260 c.1787C>T c.(1786-1788)aCg>aTg p.T596M LRBA_ENST00000510413.1_Missense_Mutation_p.T596M|LRBA_ENST00000507224.1_Missense_Mutation_p.T596M|LRBA_ENST00000357115.3_Missense_Mutation_p.T596M P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 596 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) AATGAATTCCGTGGACAGATA 0.408000 11 51 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161618 90161618 + RNA SNP C C T rs13338202 by1000genomes TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr16:90161618C>T ENST00000567960.1 + 0 354 TUBB8P7_ENST00000564451.1_RNA p.D118D(2) CAGTGATGGACGTTGTCAGAA 0.607000 4 40 0 0 1 0 0 AKR1CL1 340811 broad.mit.edu 37 10 5203731 5203731 + Splice_Site SNP C C T TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr10:5203731C>T ENST00000334314.3 - 4 455 c.e4-1 aldo-keto reductase family 1, member C-like 1 cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 AGGAAGAACCCTGGAAACCAA 0.388000 32 81 0 0 1 0 0 KLHL15 80311 broad.mit.edu 37 X 24024162 24024162 + Missense_Mutation SNP T T C TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chrX:24024162T>C ENST00000328046.8 - 3 904 c.649A>G c.(649-651)Acc>Gcc p.T217A NM_030624.2 NP_085127.2 Q96M94 KLH15_HUMAN kelch-like family member 15 217 BACK. autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 22 TGAATGATGGTATCGGTATGT 0.448000 4 240 0 0 1 0 0 CREBRF 153222 broad.mit.edu 37 5 172535680 172535680 + Missense_Mutation SNP C C T TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr5:172535680C>T ENST00000540014.1 + 5 1595 c.1276C>T c.(1276-1278)Cgg>Tgg p.R426W CREBRF_ENST00000296953.2_Missense_Mutation_p.R426W Q8IUR6 CE041_HUMAN CREB3 regulatory factor 426 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity AATATCTTCACGGAAGAGAGG 0.393000 5 81 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 8 36 0 0 1 0 0 CCIN 881 broad.mit.edu 37 9 36170642 36170642 + Silent SNP C C T TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr9:36170642C>T ENST00000335119.2 + 1 1254 c.1143C>T c.(1141-1143)ggC>ggT p.G381G NM_005893.2 NP_005884.2 Q13939 CALI_HUMAN calicin 381 cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4) 21 STAD - Stomach adenocarcinoma(86;0.228) ACTCAGTGGGCGGGAGCATTG 0.562000 4 81 0 0 1 0 0 MAX 4149 broad.mit.edu 37 14 65544747 65544747 + Missense_Mutation SNP C C T TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr14:65544747C>T ENST00000284165.6 - 4 327 c.179G>A c.(178-180)cGg>cAg p.R60Q MAX_ENST00000555932.1_Intron|MAX_ENST00000555667.1_Missense_Mutation_p.R51Q|MAX_ENST00000555419.1_Missense_Mutation_p.R24Q|MAX_ENST00000557746.1_Missense_Mutation_p.R51Q|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000341653.2_Intron|MAX_ENST00000556979.1_Missense_Mutation_p.R60Q|MAX_ENST00000556443.1_Missense_Mutation_p.R51Q|MAX_ENST00000358664.4_Missense_Mutation_p.R60Q|MAX_ENST00000358402.4_Missense_Mutation_p.R51Q NM_145113.1 NP_660088.1 P61244 MAX_HUMAN MYC associated factor X 60 Helix-loop-helix motif. transcription from RNA polymerase II promoter cytoplasm|MLL1 complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.R60Q(5) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 17 all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999) GATTTGGGCCCGGGATGCCTG 0.498000 12 53 0 0 1 0 0 WDR75 84128 broad.mit.edu 37 2 190316559 190316559 + Missense_Mutation SNP C C T TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr2:190316559C>T ENST00000314761.4 + 4 371 c.311C>T c.(310-312)gCc>gTc p.A104V NM_032168.1 NP_115544.1 Q8IWA0 WDR75_HUMAN WD repeat domain 75 104 nucleolus breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) AAACTTCATGCCCTCTTTACT 0.383000 4 149 0 0 1 0 0 EDEM3 80267 broad.mit.edu 37 1 184686700 184686700 + Missense_Mutation SNP C C G TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr1:184686700C>G ENST00000318130.8 - 12 1485 c.1219G>C c.(1219-1221)Gca>Cca p.A407P EDEM3_ENST00000367512.3_Missense_Mutation_p.A364P NM_025191.3 NP_079467.3 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 3 407 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GTACTTTCTGCAAATTCTGGC 0.333000 3 55 0 0 1 0 0 GSTM2 2946 broad.mit.edu 37 1 110217422 110217422 + Silent SNP T T C TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr1:110217422T>C ENST00000241337.4 + 8 671 c.621T>C c.(619-621)ccT>ccC p.P207P GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000414179.2_Intron|GSTM2_ENST00000369827.3_Silent_p.P168P NM_000848.3 NP_000839.1 glutathione S-transferase mu 2 (muscle) kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2) 11 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227) TCCCAAGACCTGTGTTCACAA 0.577000 4 55 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) 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) atcaaagaaggaaagaagaag 0.423000 3 37 0 0 1 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111594984 111594984 + Missense_Mutation SNP C C T TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr5:111594984C>T ENST00000261486.5 - 9 1013 c.737G>A c.(736-738)cGg>cAg p.R246Q NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 246 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding p.R246L(2)|p.R246Q(1) breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) CTTTGTAATCCGAGGCCTAAA 0.393000 8 78 0 0 1 0 0 NPDC1 56654 broad.mit.edu 37 9 139934450 139934450 + Silent SNP C C T TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr9:139934450C>T ENST00000371600.3 - 7 1764 c.1092G>A c.(1090-1092)acG>acA p.T364T NPDC1_ENST00000371601.4_Silent_p.T286T Q9NQX5 NPDC1_HUMAN neural proliferation, differentiation and control, 1 286 integral to membrane NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1) 5 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) ACTCGTACACCGTGAAGTCTC 0.672000 4 62 0 0 1 0 0 PDHA1 5160 broad.mit.edu 37 X 19373476 19373476 + Missense_Mutation SNP T T A TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chrX:19373476T>A ENST00000379806.5 + 8 872 c.727T>A c.(727-729)Ttc>Atc p.F243I PDHA1_ENST00000540249.1_Missense_Mutation_p.F174I|PDHA1_ENST00000545074.1_Missense_Mutation_p.F212I|PDHA1_ENST00000422285.2_Missense_Mutation_p.F205I NM_001173454.1 NP_001166925.1 P08559 ODPA_HUMAN pyruvate dehydrogenase (lipoamide) alpha 1 205 Y -> N (in PDHE1 deficiency). glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1) 18 Hepatocellular(33;0.183) NADH(DB00157) GGGCCAGATATTCGAAGCTTA 0.463000 22 180 0 0 1 0 0 ADH4 127 broad.mit.edu 37 4 100047870 100047870 + Silent SNP T T C TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr4:100047870T>C ENST00000508393.1 - 9 1215 c.1050A>G c.(1048-1050)gtA>gtG p.V350V RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000265512.7_Silent_p.V331V|ADH4_ENST00000505590.1_Silent_p.V350V|ADH4_ENST00000423445.1_Silent_p.V350V P08319 ADH4_HUMAN alcohol dehydrogenase 4 (class II), pi polypeptide 331 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) GGATAGAATCTACACTTTTCC 0.373000 6 72 0 0 1 0 0 RBM4 5936 broad.mit.edu 37 11 66407646 66407646 + Missense_Mutation SNP A A G TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr11:66407646A>G ENST00000483858.1 + 2 531 c.464A>G c.(463-465)aAt>aGt p.N155S RBM4_ENST00000398692.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000503028.2_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000532968.1_Missense_Mutation_p.N155S|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000408993.2_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000409406.1_Intron|RBM4_ENST00000310092.7_Intron|RBM14-RBM4_ENST00000412278.2_Intron RNA binding motif protein 4 endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266) TGTGCAGAAAATGGTTGGATA 0.468000 3 19 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791974 42791974 + Missense_Mutation SNP C C G TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr19:42791974C>G ENST00000572681.2 + 7 3573 c.3505C>G c.(3505-3507)Cac>Gac p.H1169D CIC_ENST00000575354.2_Missense_Mutation_p.H260D|CIC_ENST00000160740.3_Missense_Mutation_p.H260D Q96RK0 CIC_HUMAN capicua transcriptional repressor 260 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GAAGGAGGCCCACTTCAAGGC 0.612000 """Mis, F, S""" oligodendroglioma 3 7 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37672031 37672031 + Missense_Mutation SNP A A G TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr17:37672031A>G ENST00000447079.4 + 9 2849 c.2816A>G c.(2815-2817)aAt>aGt p.N939S CDK12_ENST00000430627.2_Missense_Mutation_p.N939S NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 939 Protein kinase. mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 TTTCAAGCCAATCTGGAACTG 0.403000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 6 51 0 0 1 0 0 IPO11 51194 broad.mit.edu 37 5 61785996 61785996 + Missense_Mutation SNP A A G TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr5:61785996A>G ENST00000325324.6 + 15 1581 c.1412A>G c.(1411-1413)gAt>gGt p.D471G IPO11_ENST00000409296.3_Missense_Mutation_p.D511G|KIF2A_ENST00000509663.2_Intron NM_016338.4 NP_057422.3 Q9UI26 IPO11_HUMAN importin 11 471 cytoplasm|nucleus protein binding endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2) 30 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) GTTGATTTTGATCAGTGGTTT 0.284000 12 86 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 4 32 0 0 1 0 0 ANTXR2 118429 broad.mit.edu 37 4 80940082 80940082 + Frame_Shift_Del DEL T T - TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr4:80940082delT ENST00000403729.2 - 11 1440 c.915delA c.(913-915)tcfs p.S305fs ANTXR2_ENST00000346652.6_Intron|ANTXR2_ENST00000307333.7_Frame_Shift_Del_p.S305fs|ANTXR2_ENST00000404191.1_Frame_Shift_Del_p.S228fs NM_058172.5 NP_477520.2 P58335 ANTR2_HUMAN anthrax toxin receptor 2 305 endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 13 TTAATGATCCTGAAATGACAG 0.303 Juvenile Hyaline Fibromatosis 2 4 --- --- --- --- GIMAP8 155038 broad.mit.edu 37 7 150174536 150174537 + Frame_Shift_Del DEL TT TT - TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr7:150174536_150174537delTT ENST00000307271.3 + 5 2240_2241 c.1666_1667delTT c.(1666-1668)tfs p.F556fs NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 556 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) TGGAGCAGACTTTACGAAATAC 0.495 15 73 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906583 35906584 + In_Frame_Ins INS - - CCACCA rs112821450 by1000genomes TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr9:35906583_35906584insCCACCA ENST00000354323.2 + 1 395_396 c.299_300insCCACCA c.(298-300)cca>cCCACCAca p.100_101insTT NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 100 His-rich. integral to membrane p.L100H(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 cctcaccacctccaccaccacc 0.668 4 9 --- --- --- --- AGAP4 119016 broad.mit.edu 37 10 46342668 46342688 + In_Frame_Del DEL GCTCCTGCCATCCTGTCCCCA GCTCCTGCCATCCTGTCCCCA - TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA ENST00000448048.2 - 1 233_253 c.108_128delTGGGGACAGGATGGCAGGAGC c.(106-129)gcg>gc p.AGDRMAGA36del AGAP4_ENST00000430779.2_5'UTR NM_133446.2 NP_597703.2 Q96P64 AGAP4_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 36 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.G37_A43delGDRMAGA(1) central_nervous_system(1)|lung(1)|ovary(1) 3 AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT 0.588 2 4 --- --- --- --- KAT6B 23522 broad.mit.edu 37 10 76781673 76781675 + In_Frame_Del DEL AGA AGA - TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr10:76781673_76781675delAGA ENST00000287239.4 + 16 3545_3547 c.3056_3058delAGA c.(3055-3060)gag>g p.EK1019del KAT6B_ENST00000372725.1_In_Frame_Del_p.EK727del|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372711.1_In_Frame_Del_p.EK836del|KAT6B_ENST00000372714.1_In_Frame_Del_p.EK727del|KAT6B_ENST00000372724.1_In_Frame_Del_p.EK727del NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1019 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding AGCTGCTGGGAGAAGGAGGAACA 0.498 OREG0020273 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 32 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080210 7080211 + RNA INS - - G rs141646579 by1000genomes TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr12:7080210_7080211insG ENST00000546220.1 + 0 155_156 U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding CGGAGGCCGTAGTTTATTGTGG 0.569 4 4 --- --- --- --- SNORD3A 0 broad.mit.edu 37 17 19091495 19091497 + RNA DEL TTC TTC - TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr17:19091495_19091497delTTC ENST00000365494.1 + 0 167_169 ttgatgatcgttcttctctccgt 0.542 11 357 --- --- --- --- KIAA0195 9772 broad.mit.edu 37 17 73487406 73487407 + Frame_Shift_Del DEL AG AG - TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chr17:73487406_73487407delAG ENST00000314256.7 + 13 1650_1651 c.1256_1257delAG c.(1255-1257)cfs p.Q419fs KIAA0195_ENST00000579208.1_Frame_Shift_Del_p.Q70fs|KIAA0195_ENST00000375248.5_Frame_Shift_Del_p.Q429fs NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 419 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GTGGACAAACAGGGGATCCTGT 0.589 14 86 --- --- --- --- TFE3 7030 broad.mit.edu 37 X 48887951 48887952 + Frame_Shift_Ins INS - - C TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chrX:48887951_48887952insC ENST00000315869.7 - 10 1704_1705 c.1445_1446insG c.(1444-1446)gccfs p.A482fs TFE3_ENST00000493583.1_5'UTR NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 482 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 TCTGGGCAGGTCCCCCCCCTAC 0.649 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 29 98 --- --- --- --- TBC1D8B 54885 broad.mit.edu 37 X 106117115 106117115 + Frame_Shift_Del DEL T T - TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03f9927-7659-4b18-ba66-cf2ca08ebca0 a7a5ca94-5e0a-43f3-b61e-705dbfb979d7 g.chrX:106117115delT ENST00000357242.5 + 21 3457 c.3283delT c.(3283-3285)ttfs p.F1096fs TBC1D8B_ENST00000276175.3_Frame_Shift_Del_p.F1090fs NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 1096 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 ATTGGTGAGGTTTTTTGAGAA 0.408 15 107 --- --- --- ---