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 PPP1R26 9858 broad.mit.edu 37 9 138376461 138376461 + Silent SNP C C T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr9:138376461C>T ENST00000356818.2 + 4 654 c.105C>T c.(103-105)gaC>gaT p.D35D PPP1R26_ENST00000605660.1_Silent_p.D35D|PPP1R26_ENST00000605286.1_Silent_p.D35D|PPP1R26_ENST00000604351.1_Silent_p.D35D|PPP1R26_ENST00000401470.3_Silent_p.D35D|PPP1R26_ENST00000602993.1_Intron NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 35 nucleolus protein binding CGGAGGCTGACGAGGGCGTGG 0.657000 29 56 0 0 1 0 0 ABCC10 89845 broad.mit.edu 37 6 43415485 43415485 + Missense_Mutation SNP C C T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr6:43415485C>T ENST00000244533.3 + 16 4044 c.3685C>T c.(3685-3687)Cca>Tca p.P1229S ABCC10_ENST00000372530.4_Missense_Mutation_p.P1257S NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 1257 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GGCGTACCGGCCAGGGCTGCC 0.662000 110 127 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162132 90162132 + RNA SNP C C T rs41303771 TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr16:90162132C>T ENST00000567960.1 + 0 868 TUBB8P7_ENST00000564451.1_RNA TGGCTGAGCTCACCCAGCAGA 0.607000 5 85 0 0 1 0 0 ATP1B1 481 broad.mit.edu 37 1 169100776 169100776 + Missense_Mutation SNP A A G TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr1:169100776A>G ENST00000367816.1 + 7 1424 c.895A>G c.(895-897)Att>Gtt p.I299V ATP1B1_ENST00000499679.3_Missense_Mutation_p.I243V|ATP1B1_ENST00000367815.3_Missense_Mutation_p.I299V|ATP1B1_ENST00000367813.3_Missense_Mutation_p.I291V P05026 AT1B1_HUMAN ATPase, Na+/K+ transporting, beta 1 polypeptide 299 ATP biosynthetic process|blood coagulation|leukocyte migration sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 14 all_hematologic(923;0.208) TGATGTAAAAATTGAAGTTAA 0.368000 5 101 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 3 41 0 0 1 0 0 IL16 3603 broad.mit.edu 37 15 81575036 81575036 + Missense_Mutation SNP T T A TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr15:81575036T>A ENST00000394660.2 + 9 1498 c.1138T>A c.(1138-1140)Tct>Act p.S380T IL16_ENST00000302987.4_Missense_Mutation_p.S380T NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 380 Interaction with GRIN2A.|PDZ 2. immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 CCAATGCATCTCTGGCATTTT 0.607000 5 202 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262355 45262355 + Missense_Mutation SNP G G A TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr5:45262355G>A ENST00000303230.4 - 8 2398 c.2341C>T c.(2341-2343)Cgg>Tgg p.R781W NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 781 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.R781R(1) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CTGACTTCCCGGGTCAGGTTG 0.637000 13 43 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76855943 76855943 + Missense_Mutation SNP G G A TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chrX:76855943G>A ENST00000373344.5 - 23 5871 c.5657C>T c.(5656-5658)cCt>cTt p.P1886L ATRX_ENST00000395603.3_Missense_Mutation_p.P1848L|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1886 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) CAAACACCAAGGATGAGTCCA 0.363000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 175 302 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29840161 29840161 + Missense_Mutation SNP A A T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr10:29840161A>T ENST00000375398.2 - 8 641 c.192T>A c.(190-192)gaT>gaA p.D64E SVIL_ENST00000355867.4_Missense_Mutation_p.D64E|SVIL_ENST00000375400.3_Missense_Mutation_p.D64E O95425 SVIL_HUMAN supervillin 64 Interaction with MYLK (By similarity). cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) CTAGAGAAGAATCAGAAGTTT 0.458000 17 39 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553676 140553676 + Silent SNP C C T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr5:140553676C>T ENST00000231137.3 + 1 1434 c.1260C>T c.(1258-1260)acC>acT p.T420T NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 420 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAACATCACCATCACCGTCA 0.512000 4 108 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18846098 18846098 + RNA SNP G G A rs9306211 TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr22:18846098G>A ENST00000412938.1 + 0 3456 ATGCCTCGGCGCTCGATCTCC 0.622000 4 28 0 0 1 0 0 TBC1D32 221322 broad.mit.edu 37 6 121491568 121491568 + Silent SNP C C T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr6:121491568C>T ENST00000275159.6 - 23 2675 c.2676G>A c.(2674-2676)gaG>gaA p.E892E TBC1D32_ENST00000398212.2_Intron|TBC1D32_ENST00000398197.2_Intron TBC1 domain family, member 32 TCTCAGAAATCTCCAAGATAT 0.353000 14 44 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100391825 100391825 + RNA SNP C C T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr7:100391825C>T ENST00000542585.1 + 0 8280 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AGCCCTTCAGCTGCAGAGCGG 0.637000 33 36 0 0 1 0 0 GPR132 29933 broad.mit.edu 37 14 105517581 105517581 + Missense_Mutation SNP G G A TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr14:105517581G>A ENST00000329797.3 - 4 1804 c.893C>T c.(892-894)aCg>aTg p.T298M GPR132_ENST00000392585.2_Missense_Mutation_p.T289M|GPR132_ENST00000539291.2_Missense_Mutation_p.T298M NM_013345.2 NP_037477.1 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 298 response to stress integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 18 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) GCCGTTCACCGTGGACAGGCA 0.562000 13 41 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94747087 94747087 + Missense_Mutation SNP T T C TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr8:94747087T>C ENST00000399300.2 - 3 1765 c.1552A>G c.(1552-1554)Ata>Gta p.I518V RBM12B_ENST00000517700.1_Missense_Mutation_p.I518V|RBM12B_ENST00000520961.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 518 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) ACTGAGTATATTGGTGGGTCT 0.443000 38 120 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68965465 68965465 + Missense_Mutation SNP A A C TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr8:68965465A>C ENST00000288368.4 + 9 1354 c.1077A>C c.(1075-1077)gaA>gaC p.E359D PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 359 PH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TTTTGAAAGAAAGAGAACGGC 0.378000 17 116 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4919742 4919742 + Missense_Mutation SNP G G A TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr12:4919742G>A ENST00000433855.1 + 1 1401 c.535G>A c.(535-537)Gtc>Atc p.V179I KCNA6_ENST00000280684.3_Missense_Mutation_p.V179I NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 179 voltage-gated potassium channel complex voltage-gated potassium channel activity p.V179I(1) NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 CATCGCCATCGTCTCCGTGTT 0.592000 HNSCC(72;0.22) 27 43 0 0 1 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42162707 42162707 + Missense_Mutation SNP G G A TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr20:42162707G>A ENST00000444063.1 + 11 1435 c.1303G>A c.(1303-1305)Gct>Act p.A435T L3MBTL1_ENST00000373135.3_Missense_Mutation_p.A435T|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.A503T|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.A435T|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.A503T Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 435 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 TGGGGCCTCTGCTGTCCCCAC 0.572000 4 92 0 0 1 0 0 LCA5L 150082 broad.mit.edu 37 21 40781999 40781999 + Silent SNP G G A TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr21:40781999G>A ENST00000358268.2 - 9 1716 c.1188C>T c.(1186-1188)atC>atT p.I396I LCA5L_ENST00000380671.2_Silent_p.I396I|LCA5L_ENST00000495240.1_5'UTR|LCA5L_ENST00000288350.3_Silent_p.I396I|WRB_ENST00000541890.1_Intron O95447 LCA5L_HUMAN Leber congenital amaurosis 5-like 396 breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 24 Prostate(19;1.2e-06) CTTTATGATCGATGTTTCCTG 0.308000 33 64 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62370926 62370926 + Missense_Mutation SNP C C T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr8:62370926C>T ENST00000519846.1 + 6 1274 c.802C>T c.(802-804)Ccc>Tcc p.P268S CLVS1_ENST00000325897.4_Missense_Mutation_p.P268S|CLVS1_ENST00000518592.1_5'UTR Q8IUQ0 CLVS1_HUMAN clavesin 1 268 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity p.P268S(1) endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TGAATTTTTGCCCTCTGAATT 0.413000 4 141 0 0 1 0 0 POLD2 5425 broad.mit.edu 37 7 44154459 44154459 + Silent SNP C C G TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr7:44154459C>G ENST00000406581.2 - 12 1984 c.1335G>C c.(1333-1335)ctG>ctC p.L445L POLD2_ENST00000452185.1_Silent_p.L445L|POLD2_ENST00000223361.3_Silent_p.L431L NM_001256879.1 NP_001243808.1 P49005 DPOD2_HUMAN polymerase (DNA directed), delta 2, accessory subunit 445 base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 12 GCTGGCAGGCCAGGCTGCGCA 0.612000 10 18 0 0 1 0 0 CD1B 910 broad.mit.edu 37 1 158300810 158300810 + Missense_Mutation SNP G G C TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr1:158300810G>C ENST00000368168.3 - 2 211 c.104C>G c.(103-105)tCc>tGc p.S35C NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 35 antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) ATTGGTAAAGGACGAGGTCTG 0.493000 15 355 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235940409 235940409 + Missense_Mutation SNP A A G TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr1:235940409A>G ENST00000389794.3 - 17 5588 c.5414T>C c.(5413-5415)cTg>cCg p.L1805P LYST_ENST00000389793.2_Missense_Mutation_p.L1805P|LYST_ENST00000536965.1_3'UTR Q99698 LYST_HUMAN lysosomal trafficking regulator 1805 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AATTTCGTGCAGAATGCCTTG 0.353000 8 116 0 0 1 0 0 G6PC3 92579 broad.mit.edu 37 17 42153351 42153351 + Silent SNP C C T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr17:42153351C>T ENST00000269097.4 + 6 1212 c.981C>T c.(979-981)ctC>ctT p.L327L NM_138387.3 NP_612396.1 Q9BUM1 G6PC3_HUMAN glucose 6 phosphatase, catalytic, 3 327 gluconeogenesis|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1) 11 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.113) TCCTGGCCCTCGTGCCCTGGG 0.592000 16 152 0 0 1 0 0 NOMO2 283820 broad.mit.edu 37 16 18532210 18532210 + Missense_Mutation SNP C C T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr16:18532210C>T ENST00000330537.6 - 19 2320 c.2150G>A c.(2149-2151)cGc>cAc p.R717H NOMO2_ENST00000381474.3_Missense_Mutation_p.R717H|NOMO2_ENST00000543392.1_Missense_Mutation_p.R550H NM_173614.2 NP_775885.1 Q5JPE7 NOMO2_HUMAN NODAL modulator 2 717 endoplasmic reticulum membrane|integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1) 20 CTCCTGCCTGCGGGCCTCGAT 0.572000 4 147 0 0 1 0 0 SPATA13 221178 broad.mit.edu 37 13 24858319 24858319 + Silent SNP C C T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr13:24858319C>T ENST00000424834.2 + 7 2684 c.2211C>T c.(2209-2211)aaC>aaT p.N737N SPATA13_ENST00000399949.2_Silent_p.N34N|SPATA13_ENST00000382108.3_Silent_p.N737N|SPATA13_ENST00000382095.4_Silent_p.N112N|SPATA13_ENST00000343003.6_Silent_p.N56N|SPATA13_ENST00000409126.1_Silent_p.N34N Q96N96 SPT13_HUMAN spermatogenesis associated 13 112 cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction cytoplasm|filopodium|lamellipodium|ruffle membrane protein binding|Rac guanyl-nucleotide exchange factor activity breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) TGGATGACAACGgtagtgagg 0.493000 4 54 0 0 1 0 0 RPGR 6103 broad.mit.edu 37 X 38156540 38156540 + Missense_Mutation SNP G G T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chrX:38156540G>T ENST00000378505.2 - 11 1587 c.1411C>A c.(1411-1413)Cca>Aca p.P471T RPGR_ENST00000339363.3_Missense_Mutation_p.P471T|RPGR_ENST00000318842.7_Missense_Mutation_p.P471T|RPGR_ENST00000342811.3_Missense_Mutation_p.P471T|RPGR_ENST00000338898.3_Missense_Mutation_p.P471T|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Missense_Mutation_p.P409T NM_001034853.1 NP_001030025.1 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 471 intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 ATGTTACCTGGTTCCTCTGGC 0.393000 7 97 0.0381472 0.0389949 1 1 0 MAGEC1 9947 broad.mit.edu 37 X 140996020 140996020 + Missense_Mutation SNP G G T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chrX:140996020G>T ENST00000285879.4 + 4 3116 c.2830G>T c.(2830-2832)Ggc>Tgc p.G944C MAGEC1_ENST00000406005.2_Missense_Mutation_p.G11C NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 944 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CAGGTACACGGGCTACTTTCC 0.473000 HNSCC(15;0.026) 116 161 9.53958e-58 1.07029e-57 1 1 0 COL24A1 255631 broad.mit.edu 37 1 86210382 86210382 + Missense_Mutation SNP C C T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr1:86210382C>T ENST00000370571.2 - 57 5005 c.4639G>A c.(4639-4641)Gat>Aat p.D1547N COL24A1_ENST00000436319.1_Missense_Mutation_p.D1526N NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 1547 Fibrillar collagen NC1. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TTAAGTAAATCTTTGCAGATT 0.368000 58 39 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143018823 143018823 + Missense_Mutation SNP A A T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr7:143018823A>T ENST00000343257.2 + 5 665 c.578A>T c.(577-579)gAa>gTa p.E193V CLCN1_ENST00000495612.1_3'UTR NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 193 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GGAATCCCCGAAATGAAGACA 0.498000 50 87 0 0 1 0 0 KRT74 121391 broad.mit.edu 37 12 52967343 52967343 + Silent SNP G G A TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr12:52967343G>A ENST00000549343.1 - 1 257 c.219C>T c.(217-219)taC>taT p.Y73Y KRT74_ENST00000305620.2_Silent_p.Y73Y Q7RTS7 K2C74_HUMAN keratin 74 73 Gly-rich.|Head. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) GCCTGAAGCCGTAACCTCCAG 0.617000 17 43 0 0 1 0 0 OR2W5 441932 broad.mit.edu 37 1 247654533 247654533 + RNA SNP G G T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr1:247654533G>T ENST00000522351.1 + 0 164 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TTGATCTTCTGCATCCTGACC 0.498000 19 53 1.00905e-13 1.10515e-13 1 1 0 RBP3 5949 broad.mit.edu 37 10 48390173 48390173 + Silent SNP G G T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr10:48390173G>T ENST00000224600.4 - 1 818 c.705C>A c.(703-705)acC>acA p.T235T NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 235 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CCACGCCCCTGGTCTGGCTGC 0.667000 6 49 0.217242 0.217242 1 1 0 CD300LB 124599 broad.mit.edu 37 17 72522084 72522084 + Missense_Mutation SNP C C T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr17:72522084C>T ENST00000392621.1 - 2 288 c.284G>A c.(283-285)tGc>tAc p.C95Y CD300LB_ENST00000314401.3_Missense_Mutation_p.C95Y NM_174892.2 NP_777552.2 A8K4G0 CLM7_HUMAN CD300 molecule-like family member b 58 Ig-like V-type. integral to membrane|plasma membrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1) 21 GAGGATCTTGCATGTATCCCA 0.542000 25 198 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20952798 20952798 + Missense_Mutation SNP A A G TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr16:20952798A>G ENST00000261383.3 - 59 11578 c.11579T>C c.(11578-11580)gTc>gCc p.V3860A DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3860 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CAACTTCATGACCTCTTCCAG 0.478000 96 147 0 0 1 0 0 C1orf177 163747 broad.mit.edu 37 1 55279581 55279581 + Missense_Mutation SNP C C T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr1:55279581C>T ENST00000358193.3 + 7 911 c.857C>T c.(856-858)cCc>cTc p.P286L C1orf177_ENST00000371273.3_Missense_Mutation_p.P286L NM_152607.2 NP_689820.2 Q3ZCV2 CA177_HUMAN chromosome 1 open reading frame 177 286 breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2) 17 TCTAAACTTCCCCGAAACCCG 0.473000 35 45 0 0 1 0 0 AKAP12 9590 broad.mit.edu 37 6 151672064 151672064 + Silent SNP G G A TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr6:151672064G>A ENST00000402676.2 + 4 2778 c.2538G>A c.(2536-2538)gtG>gtA p.V846V AKAP12_ENST00000359755.5_Silent_p.V741V|AKAP12_ENST00000354675.6_Silent_p.V748V|AKAP12_ENST00000253332.1_Silent_p.V846V NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 846 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) TCCCGGCCGTGGTCCCTCTGT 0.557000 60 90 0 0 1 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 4 107 0 0 1 0 0 OR2J3 442186 broad.mit.edu 37 6 29080275 29080275 + Missense_Mutation SNP T T C TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr6:29080275T>C ENST00000377169.1 + 1 608 c.608T>C c.(607-609)aTg>aCg p.M203T NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 CTGACCCTCATGATCACAAGC 0.473000 10 78 0 0 1 0 0 AURKC 6795 broad.mit.edu 37 19 57743156 57743156 + Splice_Site SNP G G T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr19:57743156G>T ENST00000302804.7 + 2 290 c.e2+1 AURKC_ENST00000448930.1_Splice_Site|AURKC_ENST00000415300.2_Splice_Site|AURKC_ENST00000599062.1_Splice_Site|AURKC_ENST00000598785.1_Splice_Site NM_001015878.1 NP_001015878.1 Q9UQB9 AURKC_HUMAN aurora kinase C cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) gcccagcCATGTGAGTCCCTT 0.577000 10 96 1.76689e-08 1.89017e-08 1 1 0 FLG2 388698 broad.mit.edu 37 1 152324558 152324559 + Frame_Shift_Del DEL TG TG - rs140875805 byFrequency TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr1:152324558_152324559delTG ENST00000388718.5 - 3 5775_5776 c.5703_5704delCA c.(5701-5706)cagcfs p.HS1901fs FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1901 calcium ion binding|structural molecule activity p.H1901fs*30(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCTTGGCTGTGTGTGTGTC 0.515 8 484 --- --- --- --- AC016995.3 0 broad.mit.edu 37 2 38710017 38710019 + RNA DEL AAT AAT - rs2005502 by1000genomes TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr2:38710017_38710019delAAT ENST00000417039.1 - 0 696 TTCTTtaaaaaataaataaataa 0.246 5 10 --- --- --- --- PGM2 55276 broad.mit.edu 37 4 37836301 37836301 + Frame_Shift_Del DEL G G - TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr4:37836301delG ENST00000381967.4 + 3 411 c.311delG c.(310-312)atfs p.S104fs PGM2_ENST00000537241.1_Intron|PGM2_ENST00000544359.1_5'UTR NM_018290.3 NP_060760.2 Q96G03 PGM2_HUMAN phosphoglucomutase 2 104 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 ATCGTGATCAGTTTTGACGCC 0.338 12 143 --- --- --- --- TCP11 6954 broad.mit.edu 37 6 35108990 35108990 + Frame_Shift_Del DEL C C - TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr6:35108990delC ENST00000311875.5 - 1 434 c.17delG c.(16-18)gafs p.G8fs TCP11_ENST00000373974.4_Frame_Shift_Del_p.G8fs|TCP11_ENST00000510465.1_5'UTR|TCP11_ENST00000412155.2_Frame_Shift_Del_p.G9fs|TCP11_ENST00000373979.2_5'UTR|TCP11_ENST00000444780.2_Frame_Shift_Del_p.G8fs|TCP11_ENST00000244645.3_5'UTR|TCP11_ENST00000418521.2_Intron Q8WWU5 TCP11_HUMAN t-complex 11, testis-specific 0 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane p.G6fs*56(1) breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4) 27 ACCTCCTCCTCCCCCGCCGCG 0.781 2 4 --- --- --- --- STAG3L4 64940 broad.mit.edu 37 7 66767610 66767611 + RNA INS - - G rs71293166 by1000genomes TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr7:66767610_66767611insG ENST00000416602.2 + 0 3_4 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) CACCGGACTGCTTTTTTTTTTT 0.545 2 4 --- --- --- --- PRTG 283659 broad.mit.edu 37 15 56032588 56032605 + In_Frame_Del DEL GCAAGATGAGCTTTTTGA GCAAGATGAGCTTTTTGA - TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr15:56032588_56032605delGCAAGATGAGCTTTTTGA ENST00000389286.4 - 2 419_436 c.372_389delTCAAAAAGCTCATCTTGC c.(370-390)agc>ag p.SQKAHLA124del PRTG_ENST00000561292.1_In_Frame_Del_p.SQKAHLA124del NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 124 Ig-like 1. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) ACTTGATAAGGCAAGATGAGCTTTTTGACTAAGAATGG 0.372 24 139 --- --- --- --- ANKRD11 29123 broad.mit.edu 37 16 89349640 89349641 + Frame_Shift_Ins INS - - T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr16:89349640_89349641insT ENST00000301030.4 - 9 3769_3770 c.3309_3310insA c.(3307-3312)aaatgafs p.*1104fs ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.*1104fs NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1104 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TTCTTGTCATCTTTTTTTTCAG 0.465 7 243 --- --- --- --- LRRC75A-AS1 125144 broad.mit.edu 37 17 16344167 16344168 + RNA DEL AA AA - rs10587316 TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr17:16344167_16344168delAA ENST00000475953.1 + 0 483 C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA NR_027667.1 actccatctcaaaaaaaaaaaa 0.411 2 4 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs 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 9 54 --- --- --- --- MEGF8 1954 broad.mit.edu 37 19 42874925 42874925 + Frame_Shift_Del DEL G G - TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr19:42874925delG ENST00000334370.4 + 39 7512 c.6877delG c.(6877-6879)ggfs p.G2293fs MEGF8_ENST00000251268.6_Frame_Shift_Del_p.G2360fs|MEGF8_ENST00000378073.4_5'UTR NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2360 Laminin EGF-like 3. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) TAACAGCTATGGGGAGAAATG 0.602 2 4 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 4 5 --- --- --- --- FAM83D 81610 broad.mit.edu 37 20 37555322 37555323 + In_Frame_Ins INS - - GCG TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr20:37555322_37555323insGCG ENST00000217429.4 + 1 368_369 c.327_328insGCG c.(325-330)ggcggc>ggGCGcggc p.109_110GG>GRG NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 79 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) GAGAGGAGGGCgcggcggcggc 0.718 4 2 --- --- --- ---