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 CRAMP1L 57585 broad.mit.edu 37 16 1715128 1715128 + Missense_Mutation SNP C C G TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr16:1715128C>G ENST00000397412.3 + 14 2840 c.2741C>G c.(2740-2742)tCt>tGt p.S914C LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.S292C|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.S914C|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.S911C Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 914 nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 CTGTCTAACTCTTCCGTAACT 0.507000 13 25 0 0 1 0 0 MCM6 4175 broad.mit.edu 37 2 136622582 136622582 + Splice_Site SNP C C G TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr2:136622582C>G ENST00000264156.2 - 7 1139 c.e7+1 MCM6_ENST00000492091.1_Splice_Site NM_005915.5 NP_005906.2 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) GGAATTCTTACCATGTATAGT 0.343000 40 76 0 0 1 0 0 OR9G4 283189 broad.mit.edu 37 11 56510346 56510346 + Missense_Mutation SNP C C A TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr11:56510346C>A ENST00000302957.3 - 1 941 c.942G>T c.(940-942)gaG>gaT p.E314D NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 314 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 TCCTGAAGGCCTCTTTGATAT 0.408000 52 71 2.64514e-33 3.065e-33 1 1 0 MTUS2 23281 broad.mit.edu 37 13 29600875 29600875 + Silent SNP C C T TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr13:29600875C>T ENST00000431530.3 + 1 2128 c.2070C>T c.(2068-2070)caC>caT p.H690H NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 680 Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CTCTTCCCCACGAAGAGAAGG 0.582000 13 18 0 0 1 0 0 ARHGAP27 201176 broad.mit.edu 37 17 43475375 43475375 + Silent SNP G G A rs138914274 TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr17:43475375G>A ENST00000532038.1 - 9 1251 c.1116C>T c.(1114-1116)caC>caT p.H372H ARHGAP27_ENST00000532891.2_Silent_p.H572H|ARHGAP27_ENST00000582826.1_5'UTR|ARHGAP27_ENST00000455881.1_Silent_p.H253H|ARHGAP27_ENST00000442348.1_Silent_p.H567H|ARHGAP27_ENST00000528384.1_Silent_p.H226H|ARHGAP27_ENST00000428638.1_Silent_p.H594H|ARHGAP27_ENST00000376922.2_Silent_p.H253H Q6ZUM4 RHG27_HUMAN Rho GTPase activating protein 27 594 positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding endometrium(4)|large_intestine(9)|lung(3)|skin(1) 17 Renal(3;0.0405) CCTCCGAGTCGTGCTGGATCA 0.632000 32 41 0 0 1 0 0 USP36 57602 broad.mit.edu 37 17 76803536 76803536 + Silent SNP G G A TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr17:76803536G>A ENST00000312010.6 - 14 1914 c.1590C>T c.(1588-1590)gaC>gaT p.D530D USP36_ENST00000542802.2_Silent_p.D530D|USP36_ENST00000449938.2_Silent_p.D230D NM_025090.3 NP_079366.3 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 530 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) TTCCAGGGTCGTCTAGGATGG 0.587000 14 16 0 0 1 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50473580 50473580 + RNA SNP C C T TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr19:50473580C>T ENST00000602139.1 + 0 450 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 TCTGCCCCAGCCCTGACTCAG 0.607000 32 135 0 0 1 0 0 GSTM4 2948 broad.mit.edu 37 1 110201727 110201727 + Missense_Mutation SNP T T C TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr1:110201727T>C ENST00000369833.1 + 5 1353 c.439T>C c.(439-441)Ttt>Ctt p.F147L GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000336075.5_Missense_Mutation_p.F127L|GSTM4_ENST00000326729.5_Missense_Mutation_p.F188L|GSTM4_ENST00000369836.4_Missense_Mutation_p.F188L Q03013 GSTM4_HUMAN glutathione S-transferase mu 4 188 GST C-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 12 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227) Glutathione(DB00143) CATCTCCCGCTTTGAGGTGAT 0.478000 6 221 0 0 1 0 0 OR4K13 390433 broad.mit.edu 37 14 20502653 20502653 + Missense_Mutation SNP G G A rs149397731 byFrequency TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr14:20502653G>A ENST00000315693.2 - 1 266 c.265C>T c.(265-267)Cgt>Tgt p.R89C NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) ATGGTCTTACGTTCTCGGAGG 0.453000 21 27 0 0 1 0 0 EID2B 126272 broad.mit.edu 37 19 40023046 40023046 + Missense_Mutation SNP C C G TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr19:40023046C>G ENST00000326282.4 - 1 448 c.397G>C c.(397-399)Gac>Cac p.D133H EID2B_ENST00000601837.1_Intron NM_152361.1 NP_689574.1 Q96D98 EID2B_HUMAN EP300 interacting inhibitor of differentiation 2B 133 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus endometrium(1)|lung(1)|urinary_tract(1) 3 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GGATCCGCGTCAAAGGCTGCT 0.602000 20 55 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128341727 128341727 + Silent SNP C C T TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr2:128341727C>T ENST00000389524.4 + 13 1427 c.1374C>T c.(1372-1374)aaC>aaT p.N458N MYO7B_ENST00000428314.1_Silent_p.N458N|MYO7B_ENST00000409816.2_Silent_p.N458N Q6PIF6 MYO7B_HUMAN myosin VIIB 458 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) ACTTCGCCAACGAGCACCTGC 0.597000 13 20 0 0 1 0 0 TMEM130 222865 broad.mit.edu 37 7 98453658 98453658 + Missense_Mutation SNP C C T TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr7:98453658C>T ENST00000450876.1 - 4 1763 c.448G>A c.(448-450)Gcc>Acc p.A150T TMEM130_ENST00000546258.1_Missense_Mutation_p.A215T|TMEM130_ENST00000345589.4_Missense_Mutation_p.A132T|TMEM130_ENST00000416379.2_Missense_Mutation_p.A234T|TMEM130_ENST00000339375.4_Missense_Mutation_p.A234T Q8N3G9 TM130_HUMAN transmembrane protein 130 234 PKD. Golgi membrane|integral to membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TTCAGCGAGGCGGAGAAGTCC 0.632000 8 23 0 0 1 0 0 MEIS2 4212 broad.mit.edu 37 15 37186973 37186973 + Silent SNP C C T TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr15:37186973C>T ENST00000444725.1 - 12 2203 c.1167G>A c.(1165-1167)ggG>ggA p.G389G MEIS2_ENST00000559561.1_Silent_p.G389G|MEIS2_ENST00000397624.3_Silent_p.G301G|MEIS2_ENST00000557796.2_Silent_p.G376G|MEIS2_ENST00000424352.2_Silent_p.G396G|MEIS2_ENST00000382766.2_Intron|MEIS2_ENST00000397620.2_Silent_p.G301G|MEIS2_ENST00000340545.5_Silent_p.G376G|MEIS2_ENST00000338564.5_Intron|MEIS2_ENST00000219869.9_Silent_p.G250G|MEIS2_ENST00000561208.1_Intron|MEIS2_ENST00000559085.1_Silent_p.G383G NM_170674.4|NM_170677.4 NP_733774.1|NP_733777.1 O14770 MEIS2_HUMAN Meis homeobox 2 396 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) AGTGCCATTGCCCATCCATGC 0.438000 4 131 0 0 1 0 0 IGLV3-22 0 broad.mit.edu 37 22 23047120 23047120 + RNA SNP G G T TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr22:23047120G>T ENST00000390307.2 + 0 222 TATGCTGACTGGTACCAGCAG 0.557000 39 55 1.96642e-18 2.20844e-18 1 1 0 OR5C1 392391 broad.mit.edu 37 9 125551964 125551964 + Silent SNP C C T TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr9:125551964C>T ENST00000373680.2 + 1 815 c.753C>T c.(751-753)gcC>gcT p.A251A NM_001001923.1 NP_001001923.1 Q8NGR4 OR5C1_HUMAN olfactory receptor, family 5, subfamily C, member 1 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1) 20 ACCTCACAGCCGTGGCCATGA 0.597000 34 50 0 0 1 0 0 CCDC37 348807 broad.mit.edu 37 3 126137511 126137511 + Missense_Mutation SNP G G C TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr3:126137511G>C ENST00000393425.1 + 7 646 c.547G>C c.(547-549)Gag>Cag p.E183Q CCDC37_ENST00000352312.1_Missense_Mutation_p.E182Q|CCDC37_ENST00000505024.1_Missense_Mutation_p.E183Q Q494V2 CCD37_HUMAN coiled-coil domain containing 37 182 NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) GGCGACCAAAGAGGAGGCCAG 0.647000 5 2 0 0 1 0 0 GPC3 2719 broad.mit.edu 37 X 132888183 132888183 + Missense_Mutation SNP G G A TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chrX:132888183G>A ENST00000370818.3 - 3 803 c.358C>T c.(358-360)Cgc>Tgc p.R120C GPC3_ENST00000394299.2_Missense_Mutation_p.R120C|GPC3_ENST00000543339.1_Missense_Mutation_p.R66C NM_001164618.1|NM_004484.3 NP_001158090.1|NP_004475.1 P51654 GPC3_HUMAN glypican 3 120 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) TTGGCATGGCGAACAACAATT 0.363000 """T, D, Mis, N, F, S""" Wilms tumour Simpson-Golabi-Behmel syndrome 76 4 0 0 1 0 0 PTGFRN 5738 broad.mit.edu 37 1 117487662 117487662 + Silent SNP G G A TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr1:117487662G>A ENST00000393203.2 + 3 927 c.780G>A c.(778-780)caG>caA p.Q260Q NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 260 Ig-like C2-type 2. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) GCAACTGGCAGGAAATCCAAG 0.567000 17 21 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41004898 41004898 + Missense_Mutation SNP G G C TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr5:41004898G>C ENST00000399564.4 - 36 4439 c.3989C>G c.(3988-3990)aCa>aGa p.T1330R MROH2B_ENST00000506092.2_Missense_Mutation_p.T885R NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CCCGGATGCTGTGTTGCCGAG 0.478000 30 44 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16261678 16261678 + Silent SNP G G A TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr1:16261678G>A ENST00000375759.3 + 11 9147 c.8943G>A c.(8941-8943)acG>acA p.T2981T NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 2981 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TGGGGTCCACGCTCACGCCCC 0.597000 3 43 0 0 1 0 0 OR1N1 138883 broad.mit.edu 37 9 125289050 125289050 + Missense_Mutation SNP A A G TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr9:125289050A>G ENST00000304880.2 - 1 522 c.523T>C c.(523-525)Ttt>Ctt p.F175L NM_012363.1 NP_036495.1 Q8NGS0 OR1N1_HUMAN olfactory receptor, family 1, subfamily N, member 1 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 TCACAGAAAAAGTGAGCAATT 0.502000 20 19 0 0 1 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58846117 58846117 + Splice_Site SNP G G T TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr19:58846117G>T ENST00000329665.4 + 2 96 c.e2-1 NM_181846.2 NP_862829.1 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) CATTCCTGCAGGCCCAGTTCC 0.597000 4 10 0.150653 0.154897 1 1 0 TTN 7273 broad.mit.edu 37 2 179453326 179453326 + Silent SNP A A G TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr2:179453326A>G ENST00000589042.1 - 304 63350 c.63126T>C c.(63124-63126)aaT>aaC p.N21042N TTN_ENST00000359218.5_Silent_p.N12102N|TTN_ENST00000342992.6_Silent_p.N18474N|TTN_ENST00000342175.6_Silent_p.N12169N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.N19401N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.N11977N|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19401 Fibronectin type-III 52. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCCAATTTCATTTTCTGCCT 0.453000 13 248 0 0 1 0 0 OR10G8 219869 broad.mit.edu 37 11 123901065 123901065 + Missense_Mutation SNP G G A TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr11:123901065G>A ENST00000431524.1 + 1 769 c.736G>A c.(736-738)Gtg>Atg p.V246M NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CCACTGTATCGTGGTCCTTTG 0.542000 57 64 0 0 1 0 0 PXMP4 11264 broad.mit.edu 37 20 32308005 32308005 + Silent SNP G G C TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr20:32308005G>C ENST00000409299.3 - 1 101 c.9C>G c.(7-9)gcC>gcG p.A3A PXMP4_ENST00000217398.3_Silent_p.A3A|PXMP4_ENST00000344022.3_Silent_p.A3A NM_007238.4 NP_009169.3 Q9Y6I8 PXMP4_HUMAN peroxisomal membrane protein 4, 24kDa 3 integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane protein transporter activity NS(1)|endometrium(2)|large_intestine(2)|lung(8) 13 GCTGCGGCGGGGCTGCCATAG 0.682000 10 19 0 0 1 0 0 SLC26A3 1811 broad.mit.edu 37 7 107427813 107427813 + Missense_Mutation SNP C C T TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr7:107427813C>T ENST00000340010.5 - 7 1061 c.877G>A c.(877-879)Gaa>Aaa p.E293K SLC26A3_ENST00000422236.2_Missense_Mutation_p.E258K NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 293 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 ATAATGAATTCGATTGGAATG 0.378000 72 142 0 0 1 0 0 TRIM15 89870 broad.mit.edu 37 6 30136149 30136149 + Nonsense_Mutation SNP C C T TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr6:30136149C>T ENST00000376694.4 + 3 1019 c.550C>T c.(550-552)Cga>Tga p.R184* TRIM15_ENST00000376688.1_Intron NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 184 mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 GGAGCAGCAGCGATGTCTCCT 0.527000 19 27 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162172 90162172 + RNA SNP T T C TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr16:90162172T>C ENST00000567960.1 + 0 908 TUBB8P7_ENST00000564451.1_RNA GATGGCTGCCTGTGACCCCCG 0.567000 4 115 0 0 1 0 0 IGKV1-6 0 broad.mit.edu 37 2 89266236 89266236 + RNA SNP G G T TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr2:89266236G>T ENST00000464162.1 - 0 50 CCCAGGAGCTGAGCGGGGACC 0.577000 63 145 1.02487e-32 1.16899e-32 1 1 0 TNFSF13B 10673 broad.mit.edu 37 13 108922745 108922745 + Missense_Mutation SNP C C T TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr13:108922745C>T ENST00000375887.4 + 2 575 c.397C>T c.(397-399)Cgt>Tgt p.R133C TNFSF13B_ENST00000542136.1_Missense_Mutation_p.R133C|TNFSF13B_ENST00000479435.1_3'UTR|TNFSF13B_ENST00000430559.1_Missense_Mutation_p.R133C NM_006573.4 NP_006564.1 Q9Y275 TN13B_HUMAN tumor necrosis factor (ligand) superfamily, member 13b 133 Cleavage. cell proliferation|immune response|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity|tumor necrosis factor receptor binding large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104) all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19) CAGAAATAAGCGTGCCGTTCA 0.463000 23 48 0 0 1 0 0 GABRA4 2557 broad.mit.edu 37 4 46967202 46967202 + Nonsense_Mutation SNP G G A TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr4:46967202G>A ENST00000264318.3 - 8 1901 c.919C>T c.(919-921)Cga>Tga p.R307* NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 307 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AAAGAATGTCGTGCACTGATG 0.433000 45 77 0 0 1 0 0 CRCT1 54544 broad.mit.edu 37 1 152487972 152487972 + Missense_Mutation SNP C C G TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr1:152487972C>G ENST00000368790.3 + 2 186 c.113C>G c.(112-114)tCc>tGc p.S38C NM_019060.2 NP_061933.1 Q9UGL9 CRCT1_HUMAN cysteine-rich C-terminal 1 38 lung(1)|ovary(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) tcctcctcctccTGCTGCGGC 0.736000 3 27 0 0 1 0 0 SPEF1 25876 broad.mit.edu 37 20 3760357 3760357 + Missense_Mutation SNP C C T TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr20:3760357C>T ENST00000379756.3 - 2 335 c.175G>A c.(175-177)Gcc>Acc p.A59T SPEF1_ENST00000463490.1_5'UTR NM_015417.4 NP_056232.2 Q9Y4P9 SPEF1_HUMAN sperm flagellar 1 59 cilium axoneme|cytoplasm|cytoskeleton cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 AGAGAGTTGGCGGGGACATAA 0.537000 21 40 0 0 1 0 0 KLRC4-KLRK1 0 broad.mit.edu 37 12 10562063 10562063 + Missense_Mutation SNP T T C TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr12:10562063T>C ENST00000539300.1 - 1 85 c.86A>G c.(85-87)aAt>aGt p.N29S KLRC4_ENST00000309384.1_Missense_Mutation_p.I38V ACTTGGAATATTTCCTGTTTG 0.388000 66 89 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140964211 140964211 + Splice_Site SNP A A T TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr9:140964211A>T ENST00000371372.1 + 32 4815 c.4668_splice c.e32-1 p.E1557_splice CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000277551.2_Splice_Site_p.E1557_splice NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1557 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CACATGTAGGAAACGGTTGGT 0.488000 4 6 0 0 1 0 0 ADH1C 126 broad.mit.edu 37 4 100257916 100257916 + RNA SNP G G A TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr4:100257916G>A ENST00000515683.1 - 0 1472 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) GTTTCAAAACGTCAGGACGGT 0.423000 27 25 0 0 1 0 0 LPIN2 9663 broad.mit.edu 37 18 2951271 2951271 + Silent SNP T T C TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr18:2951271T>C ENST00000261596.4 - 4 610 c.372A>G c.(370-372)aaA>aaG p.K124K RP11-737O24.2_ENST00000584431.1_RNA NM_014646.2 NP_055461.1 Q92539 LPIN2_HUMAN lipin 2 124 fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 29 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) CTCCACCCGATTTCACCAAAG 0.413000 54 60 0 0 1 0 0 PPIL2 23759 broad.mit.edu 37 22 22024879 22024879 + Missense_Mutation SNP G G A TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr22:22024879G>A ENST00000406385.1 + 3 167 c.107G>A c.(106-108)cGt>cAt p.R36H PPIL2_ENST00000492445.2_Missense_Mutation_p.R36H|PPIL2_ENST00000335025.7_Missense_Mutation_p.R36H|PPIL2_ENST00000456792.2_Missense_Mutation_p.R36H|PPIL2_ENST00000398831.3_Missense_Mutation_p.R36H|PPIL2_ENST00000412327.1_Missense_Mutation_p.R36H Q13356 PPIL2_HUMAN peptidylprolyl isomerase (cyclophilin)-like 2 36 blood coagulation|leukocyte migration|protein folding|protein polyubiquitination Golgi lumen|nucleus|ubiquitin ligase complex peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 17 Colorectal(54;0.105) AATTTTCGTCGTTTACCTTTT 0.373000 81 122 0 0 1 0 0 ETNK1 55500 broad.mit.edu 37 12 22778194 22778194 + Missense_Mutation SNP A A G TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr12:22778194A>G ENST00000266517.4 + 1 186 c.97A>G c.(97-99)Aac>Gac p.N33D ETNK1_ENST00000335148.3_Missense_Mutation_p.N33D NM_018638.4 NP_061108.2 Q9HBU6 EKI1_HUMAN ethanolamine kinase 1 33 phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|ethanolamine kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CCGGATCGGCAACAGTGCCGC 0.711000 5 12 0 0 1 0 0 PFKL 5211 broad.mit.edu 37 21 45732145 45732145 + Nonsense_Mutation SNP G G A TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr21:45732145G>A ENST00000403390.1 + 5 536 c.536G>A c.(535-537)tGg>tAg p.W179* PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000349048.4_Nonsense_Mutation_p.W132* P17858 K6PL_HUMAN phosphofructokinase, liver 132 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) CGCAGCGAGTGGGGCAGCCTG 0.662000 5 15 0 0 1 0 0 KIAA0408 9729 broad.mit.edu 37 6 127771491 127771491 + Missense_Mutation SNP G G A TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr6:127771491G>A ENST00000483725.3 - 3 478 c.142C>T c.(142-144)Cgg>Tgg p.R48W SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000368268.2_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 48 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) TTTACTTCCCGGCAAAGCTGT 0.338000 4 65 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78943064 78943064 + Silent SNP C C T TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr9:78943064C>T ENST00000545128.1 + 32 4936 c.4398C>T c.(4396-4398)ccC>ccT p.P1466P NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 633 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 AGGATGCTCCCGGGTGCAAGC 0.582000 61 75 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098794 11098794 + RNA SNP C C T TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr21:11098794C>T ENST00000470054.1 - 0 131 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) actccagctgcgctgccatct 0.627000 8 66 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90500708 90500708 + Missense_Mutation SNP C C T rs150988108 byFrequency TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr9:90500708C>T ENST00000325643.5 + 4 1372 c.1306C>T c.(1306-1308)Cgc>Tgc p.R436C NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 ACAGCAGAAACGCAGCCAGCT 0.562000 54 64 0 0 1 0 0 CHIA 27159 broad.mit.edu 37 1 111861169 111861169 + Missense_Mutation SNP G G A TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr1:111861169G>A ENST00000369740.1 + 9 887 c.784G>A c.(784-786)Gtt>Att p.V262I CHIA_ENST00000430615.1_Missense_Mutation_p.V154I|CHIA_ENST00000353665.6_Missense_Mutation_p.V101I|CHIA_ENST00000483391.1_Missense_Mutation_p.V101I|CHIA_ENST00000343320.6_Missense_Mutation_p.V262I|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000451398.2_Missense_Mutation_p.V101I NM_001258001.1|NM_201653.3 NP_001244930.1|NP_970615.2 Q9BZP6 CHIA_HUMAN chitinase, acidic 262 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding p.V154I(1)|p.V262I(1) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) GAAGCTCATCGTTGGATTCCC 0.537000 40 53 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32181593 32181593 + Missense_Mutation SNP G G T TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr6:32181593G>T ENST00000375023.3 - 14 2330 c.2192C>A c.(2191-2193)aCa>aAa p.T731K NOTCH4_ENST00000465528.1_5'UTR NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 731 EGF-like 19. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GTGACAAGCTGTCATCTCCTC 0.597000 3 41 1 1 1 1 0 ACTBL2 345651 broad.mit.edu 37 5 56777838 56777838 + Missense_Mutation SNP C C T TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr5:56777838C>T ENST00000423391.1 - 1 798 c.697G>A c.(697-699)Gca>Aca p.A233T CTD-2023N9.1_ENST00000506106.1_RNA NM_001017992.3 NP_001017992.1 Q562R1 ACTBL_HUMAN actin, beta-like 2 233 cytoplasm|cytoskeleton ATP binding p.A233T(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2) 28 Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;4.24e-37) GAGGAGGATGCGGCTGCCCTG 0.547000 22 41 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279833 46279833 + Silent SNP G G A TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr20:46279833G>A ENST00000372004.3 + 20 3963 c.3747G>A c.(3745-3747)caG>caA p.Q1249Q NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1253 Acetyltransferase.|Poly-Gln. Missing. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcaacagcagc 0.547000 4 92 0 0 1 0 0 TRIM17 51127 broad.mit.edu 37 1 228602614 228602614 + Missense_Mutation SNP G G A TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr1:228602614G>A ENST00000366697.2 - 1 1116 c.160C>T c.(160-162)Cgg>Tgg p.R54W TRIM17_ENST00000295033.3_Missense_Mutation_p.R54W|TRIM17_ENST00000456946.2_Missense_Mutation_p.R54W|TRIM17_ENST00000366698.2_Missense_Mutation_p.R54W Q9Y577 TRI17_HUMAN tripartite motif containing 17 54 protein autoubiquitination intracellular protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 10 Prostate(94;0.0724) TTCCGCTTCCGCCTCCCCTTC 0.632000 13 19 0 0 1 0 0 RPL5 6125 broad.mit.edu 37 1 93300378 93300378 + Missense_Mutation SNP G G C TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr1:93300378G>C ENST00000370321.3 + 4 322 c.232G>C c.(232-234)Gcg>Ccg p.A78P NM_000969.3 NP_000960.2 P46777 RL5_HUMAN ribosomal protein L5 78 A -> R (in Ref. 1; AAA85654). endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) AGTCTGCGCAGCGTATGCACA 0.458000 56 81 0 0 1 0 0 C9orf3 84909 broad.mit.edu 37 9 97844955 97844955 + Missense_Mutation SNP G G A TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr9:97844955G>A ENST00000375315.2 + 15 2418 c.2418G>A c.(2416-2418)atG>atA p.M806I C9orf3_ENST00000425634.2_Missense_Mutation_p.M168I|C9orf3_ENST00000433691.2_Missense_Mutation_p.M147I|C9orf3_ENST00000297979.5_Missense_Mutation_p.M707I NM_001193329.1 NP_001180258.1 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 806 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) AGGAGCAGATGGATAGGTCCT 0.527000 24 32 0 0 1 0 0 CHRNG 1146 broad.mit.edu 37 2 233409542 233409542 + Missense_Mutation SNP C C A TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr2:233409542C>A ENST00000389494.3 + 11 1331 c.1310C>A c.(1309-1311)gCc>gAc p.A437D CHRNG_ENST00000389492.3_Missense_Mutation_p.A385D NM_005199.4 NP_005190.4 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma (muscle) 437 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) GCTGCCCCAGCCATCCAGGCC 0.572000 35 38 1.45844e-13 1.61312e-13 1 1 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 46 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155721974 155721974 + Silent SNP G G T TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr1:155721974G>T ENST00000437809.1 - 30 6369 c.6247C>A c.(6247-6249)Cgg>Agg p.R2083R GON4L_ENST00000271883.5_Silent_p.R2083R|GON4L_ENST00000368331.1_Silent_p.R2084R Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 2084 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding p.R2083W(1) NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) GTCTTCACCCGAGCTCTGCTT 0.532000 4 123 3.59834e-05 3.75255e-05 1 1 0 IGF2BP1 10642 broad.mit.edu 37 17 47120867 47120867 + Silent SNP G G A TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr17:47120867G>A ENST00000290341.3 + 10 1489 c.1155G>A c.(1153-1155)ccG>ccA p.P385P IGF2BP1_ENST00000431824.2_Silent_p.P246P NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 385 Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity). CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CAGTCCCGCCGCCTCCCAGCA 0.572000 25 28 0 0 1 0 0 PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr2:131129929_131129934delGACGGG ENST00000175756.5 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cag>ca p.QTG371del PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 371 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 5 3 --- --- --- --- PIK3R1 5295 broad.mit.edu 37 5 67591150 67591151 + Splice_Site DEL GA GA - TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr5:67591150_67591151delGA ENST00000521381.1 + 13 2359_2360 c.1745_splice c.e13+1 p.LM581_splice PIK3R1_ENST00000523872.1_Splice_Site_p.LM218_splice|PIK3R1_ENST00000274335.5_Splice_Site_p.LM581_splice|PIK3R1_ENST00000336483.5_Splice_Site_p.LM311_splice|PIK3R1_ENST00000320694.8_Splice_Site_p.LM281_splice|PIK3R1_ENST00000521657.1_Splice_Site_p.LM581_splice|PIK3R1_ENST00000396611.1_Splice_Site_p.LM581_splice NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 581 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.R577_M582>K(1)|p.Y580fs*1(1)|p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) ACCAATACTTGATGTAAGTATT 0.376 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 18 48 --- --- --- --- PIK3R1 5295 broad.mit.edu 37 5 67591153 67591153 + Splice_Site DEL G G - TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr5:67591153delG ENST00000521381.1 + 13 2361 c.e13+1 PIK3R1_ENST00000523872.1_Splice_Site|PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000336483.5_Splice_Site|PIK3R1_ENST00000320694.8_Splice_Site|PIK3R1_ENST00000521657.1_Splice_Site|PIK3R1_ENST00000396611.1_Splice_Site NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.R577_M582>K(1)|p.Y580fs*1(1)|p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) AATACTTGATGTAAGTATTTG 0.373 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 35 28 --- --- --- --- TRBV29-1 0 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 6 12 --- --- --- --- ZNF618 114991 broad.mit.edu 37 9 116798603 116798603 + Frame_Shift_Del DEL G G - TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr9:116798603delG ENST00000288466.7 + 12 1012 c.913delG c.(913-915)ggfs p.G305fs ZNF618_ENST00000374126.5_Frame_Shift_Del_p.G398fs|ZNF618_ENST00000470105.1_3'UTR NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 398 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 CGGCGCCTGTGGGATCCAGTT 0.587 2 4 --- --- --- --- hsa-mir-7162 0 broad.mit.edu 37 15 62539153 62539154 + RNA INS - - GG rs113348682 by1000genomes TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr15:62539153_62539154insGG ENST00000570077.1 - 0 362 TCCACCTCTCTGGCATTCTAAG 0.569 2 4 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 7 48 --- --- --- --- GAGE2D 729408 broad.mit.edu 37 X 49208295 49208296 + In_Frame_Ins INS - - TAT TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e423faad-225f-4505-b3ae-0b142263357d 06cf2071-92a5-4732-a699-a6d86bd996b0 g.chrX:49208295_49208296insTAT ENST00000404720.2 + 2 96_97 c.24_25insTAT c.(22-27)acatcg>acTATatcg p.8_9TS>TIS NM_001098407.1|NM_012196.1 NP_001091877.1|NP_036328.1 G antigen 2D GAAGATCGACCTATCGGCCTAG 0.465 3 5 --- --- --- ---