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 TACC2 10579 broad.mit.edu 37 10 123970864 123970864 + Silent SNP C C A rs116727041 by1000genomes TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr10:123970864C>A ENST00000369005.1 + 9 7264 c.6924C>A c.(6922-6924)ccC>ccA p.P2308P TACC2_ENST00000368999.1_Silent_p.P386P|TACC2_ENST00000358010.1_Silent_p.P454P|TACC2_ENST00000369001.1_Silent_p.P12P|TACC2_ENST00000369000.1_Silent_p.P12P|TACC2_ENST00000360561.3_Silent_p.P386P|TACC2_ENST00000515603.1_Silent_p.P2263P|TACC2_ENST00000515273.1_Silent_p.P2312P|TACC2_ENST00000369004.3_Silent_p.P386P|TACC2_ENST00000334433.3_Silent_p.P2308P|TACC2_ENST00000453444.2_Silent_p.P2312P|TACC2_ENST00000513429.1_Silent_p.P454P|TACC2_ENST00000260733.3_Silent_p.P386P NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2308 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) AAAAGACACCCGAGAAACTTG 0.488000 30 92 3.80469e-20 4.15058e-20 1 1 0 CR1 1378 broad.mit.edu 37 1 207787753 207787753 + Nonsense_Mutation SNP C C T rs55749440 TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr1:207787753C>T ENST00000367049.4 + 40 6580 c.6580C>T c.(6580-6582)Cga>Tga p.R2194* CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744* NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1744 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.R1749*(9)|p.R2194*(9)|p.R1744*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTTTAGGTTCCGATTAAAAGG 0.423000 3 49 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3293277 3293277 + Missense_Mutation SNP C C A rs139092123 by1000genomes TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr16:3293277C>A ENST00000219596.1 - 10 2249 c.2210G>T c.(2209-2211)aGa>aTa p.R737I MEFV_ENST00000339854.4_Missense_Mutation_p.R557I|MEFV_ENST00000536379.1_Missense_Mutation_p.R526I|MEFV_ENST00000541159.1_3'UTR NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 737 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) GATGTGGGATCTGGCTGTCAC 0.542000 4 88 2.56e-06 2.71059e-06 1 1 0 FAM86DP 692099 broad.mit.edu 37 3 75476706 75476706 + RNA SNP C C T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr3:75476706C>T ENST00000459803.1 - 0 650 NR_024241.1 TAATGAGAGGCCATTGAGAAG 0.602000 7 56 0 0 1 0 0 MMRN1 22915 broad.mit.edu 37 4 90816482 90816482 + Silent SNP C C T rs142099842 TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr4:90816482C>T ENST00000394980.1 + 2 679 c.360C>T c.(358-360)aaC>aaT p.N120N MMRN1_ENST00000394981.1_Silent_p.N86N|MMRN1_ENST00000264790.2_Silent_p.N120N Q13201 MMRN1_HUMAN multimerin 1 120 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) TCCCAACCAACGCTAGCATCA 0.438000 16 65 0 0 1 0 0 IGKV1-5 28299 broad.mit.edu 37 2 89246997 89246997 + RNA SNP T T C TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr2:89246997T>C ENST00000496168.1 - 0 353 TTTCTGCTGATACCAGGCCAA 0.532000 5 157 0 0 1 0 0 KDM6B 23135 broad.mit.edu 37 17 7756355 7756355 + Missense_Mutation SNP C C G TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr17:7756355C>G ENST00000254846.5 + 21 5037 c.4648C>G c.(4648-4650)Caa>Gaa p.Q1550E KDM6B_ENST00000448097.2_Missense_Mutation_p.Q1550E NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 1550 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CTGCCAGGTGCAACGCGAGAG 0.627000 4 27 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69882049 69882049 + Missense_Mutation SNP G G A TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr10:69882049G>A ENST00000358913.5 + 2 1342 c.854G>A c.(853-855)cGa>cAa p.R285Q MYPN_ENST00000373675.3_Missense_Mutation_p.R285Q|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.R285Q NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 285 Ig-like 1.|Interaction with CARP. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 GAAGGAACTCGAGTACAGTTG 0.468000 12 60 0 0 1 0 0 GLUD1P7 414212 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 4 27 0 0 1 0 0 CLASP2 23122 broad.mit.edu 37 3 33592821 33592821 + Missense_Mutation SNP T T G TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr3:33592821T>G ENST00000399362.4 - 30 3450 c.3097A>C c.(3097-3099)Aat>Cat p.N1033H CLASP2_ENST00000480013.1_Missense_Mutation_p.N813H|CLASP2_ENST00000359576.5_Missense_Mutation_p.N1025H|CLASP2_ENST00000539981.1_Missense_Mutation_p.N803H|CLASP2_ENST00000461133.3_Missense_Mutation_p.N793H|CLASP2_ENST00000468888.2_Missense_Mutation_p.N1034H|CLASP2_ENST00000307312.7_Missense_Mutation_p.N515H NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 1035 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 TCACTGGAATTTATAAAATCT 0.408000 21 58 0 0 1 0 0 IGHV3-38 28429 broad.mit.edu 37 14 106866492 106866492 + RNA SNP A A T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr14:106866492A>T ENST00000390618.2 - 0 339 TTGTCTCTGGAGATGGTGAAT 0.532000 8 221 0 0 1 0 0 RCOR1 23186 broad.mit.edu 37 14 103174910 103174910 + Missense_Mutation SNP C C T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr14:103174910C>T ENST00000262241.6 + 6 995 c.769C>T c.(769-771)Cgg>Tgg p.R257W RCOR1_ENST00000570597.1_Missense_Mutation_p.R254W NM_015156.3 NP_055971.2 Q9UKL0 RCOR1_HUMAN REST corepressor 1 254 blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 12 AAAACGGGAGCGGGAGGAGAG 0.468000 6 205 0 0 1 0 0 MRPL24 79590 broad.mit.edu 37 1 156708205 156708205 + Missense_Mutation SNP G G A TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr1:156708205G>A ENST00000368211.4 - 3 347 c.209C>T c.(208-210)gCc>gTc p.A70V MRPL24_ENST00000361531.2_Missense_Mutation_p.A70V NM_024540.3|NM_145729.2 NP_078816.2|NP_663781.1 Q96A35 RM24_HUMAN mitochondrial ribosomal protein L24 70 KOW. translation mitochondrion|ribosome structural constituent of ribosome endometrium(1)|large_intestine(1)|lung(4) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTGCTTCCCGGCATCCTTGCC 0.567000 4 179 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175365905 175365905 + Missense_Mutation SNP C C T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr1:175365905C>T ENST00000367674.1 - 5 1723 c.1015G>A c.(1015-1017)Gac>Aac p.D339N TNR_ENST00000263525.2_Missense_Mutation_p.D339N NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 339 Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) ATGGACCTGTCGCTGATACCA 0.602000 5 172 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186544307 186544307 + Missense_Mutation SNP C C T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr4:186544307C>T ENST00000431808.1 - 14 2827 c.2264G>A c.(2263-2265)aGc>aAc p.S755N SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.S659N|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.S855N|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.S755N|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 755 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) GTGCAGGATGCTGTTGTCCGG 0.537000 4 229 0 0 1 0 0 RAB22A 57403 broad.mit.edu 37 20 56918775 56918775 + Splice_Site SNP G G A TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr20:56918775G>A ENST00000244040.3 + 3 399 c.116_splice c.e3-1 p.A40_splice RAB22A_ENST00000488949.1_3'UTR NM_020673.2 NP_065724.1 Q9UL26 RB22A_HUMAN RAB22A, member RAS oncogene family 40 endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction early endosome|endosome membrane|plasma membrane GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1) 6 all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042) BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07) TCTTTATAGGGCATCTTTTAT 0.403000 3 50 0 0 1 0 0 CPZ 8532 broad.mit.edu 37 4 8605723 8605723 + Missense_Mutation SNP G G A TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr4:8605723G>A ENST00000382480.2 + 4 906 c.106G>A c.(106-108)Gca>Aca p.A36T CPZ_ENST00000360986.4_Missense_Mutation_p.A173T|CPZ_ENST00000315782.6_Missense_Mutation_p.A162T|CPZ_ENST00000429646.2_5'UTR NM_001014448.2 NP_001014448.1 Q66K79 CBPZ_HUMAN carboxypeptidase Z 173 FZ. proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GGCTGACGAGGCACTGCCCTC 0.687000 3 39 0 0 1 0 0 ROCK2 9475 broad.mit.edu 37 2 11333967 11333967 + Nonsense_Mutation SNP G G A TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr2:11333967G>A ENST00000315872.6 - 30 4073 c.3625C>T c.(3625-3627)Cga>Tga p.R1209* ROCK2_ENST00000401753.1_Nonsense_Mutation_p.R966* NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 1209 PH. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) GTAACTGGTCGGACATGAAAT 0.299000 7 67 0 0 1 0 0 USP19 10869 broad.mit.edu 37 3 49151652 49151652 + Silent SNP G G A TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr3:49151652G>A ENST00000453664.1 - 16 2640 c.2322C>T c.(2320-2322)ctC>ctT p.L774L USP19_ENST00000398888.2_Silent_p.L683L|USP19_ENST00000398892.3_Silent_p.L723L|USP19_ENST00000398896.1_Silent_p.L491L|USP19_ENST00000398898.2_Silent_p.L723L|USP19_ENST00000434032.2_Silent_p.L784L|USP19_ENST00000417901.1_Silent_p.L786L NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 683 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AAAAGACAGGGAGAACCTTTT 0.547000 36 124 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107460204 107460204 + Missense_Mutation SNP C C T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr2:107460204C>T ENST00000409382.3 - 2 840 c.230G>A c.(229-231)cGc>cAc p.R77H ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R77H|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R77H NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 77 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CAGCGCCTGGCGTGCGTCCAG 0.677000 14 53 0 0 1 0 0 SPINK5 11005 broad.mit.edu 37 5 147504400 147504400 + Missense_Mutation SNP G G T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr5:147504400G>T ENST00000398454.1 + 28 2812 c.2739G>T c.(2737-2739)aaG>aaT p.K913N SPINK5_ENST00000359874.3_Splice_Site_p.K913_splice|SPINK5_ENST00000256084.7_Splice_Site_p.K913_splice NM_001127699.1 NP_001121171.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 913 Kazal-like 14. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATAATGCAAAGGTTATTTATT 0.284000 5 16 0.00116845 0.00116845 1 1 0 TPK1 27010 broad.mit.edu 37 7 144462990 144462990 + Missense_Mutation SNP C C T rs77358162 byFrequency TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr7:144462990C>T ENST00000360057.3 - 3 200 c.98G>A c.(97-99)cGt>cAt p.R33H TPK1_ENST00000378099.3_Missense_Mutation_p.R33H NM_022445.3 NP_071890.2 Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 33 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) CCAAAGATGACGAAAATAGTT 0.328000 15 72 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22661208 22661208 + RNA SNP C C T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr22:22661208C>T ENST00000426066.1 + 0 300 NR_027293.1 CTGAATCATGCAGAATTTGAA 0.408000 4 59 0 0 1 0 0 MUC5AC 4586 broad.mit.edu 37 11 1155162 1155162 + Missense_Mutation SNP C C T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr11:1155162C>T ENST00000356191.2 + 3 170 c.170C>T c.(169-171)gCg>gTg p.A57V mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) CTCCGTGGGGCGACTGTCTTC 0.672000 3 23 0 0 1 0 0 GPR137 56834 broad.mit.edu 37 11 64056826 64056826 + Missense_Mutation SNP C C T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr11:64056826C>T ENST00000411458.1 + 9 1445 c.1417C>T c.(1417-1419)Ccg>Tcg p.P473S GPR137_ENST00000313074.3_Missense_Mutation_p.P415S|GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000377702.4_3'UTR|GPR137_ENST00000438980.2_3'UTR NM_001170726.1 NP_001164197.1 Q96N19 G137A_HUMAN G protein-coupled receptor 137 415 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 TGAGCTTGTGCCGTCCCCCTA 0.647000 4 86 0 0 1 0 0 WDR62 284403 broad.mit.edu 37 19 36585023 36585023 + Silent SNP A A T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr19:36585023A>T ENST00000401500.2 + 20 2459 c.2424A>T c.(2422-2424)ccA>ccT p.P808P WDR62_ENST00000270301.7_Silent_p.P808P NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 808 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) AGTGTGAGCCAGAAGAGATGC 0.488000 8 75 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22661206 22661206 + RNA SNP T T C TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr22:22661206T>C ENST00000426066.1 + 0 298 NR_027293.1 AGCTGAATCATGCAGAATTTG 0.408000 4 57 0 0 1 0 0 TCF7L2 6934 broad.mit.edu 37 10 114910867 114910867 + Missense_Mutation SNP G G A TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr10:114910867G>A ENST00000545257.1 + 9 1493 c.986G>A c.(985-987)gGc>gAc p.G329D TCF7L2_ENST00000536810.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000369397.4_Missense_Mutation_p.G306D|TCF7L2_ENST00000369389.1_Missense_Mutation_p.G40D|TCF7L2_ENST00000355995.4_Missense_Mutation_p.G329D|TCF7L2_ENST00000534894.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000369386.1_5'UTR|TCF7L2_ENST00000355717.4_Missense_Mutation_p.G353D|TCF7L2_ENST00000538897.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000542695.1_Missense_Mutation_p.G45D|TCF7L2_ENST00000543371.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000352065.5_Missense_Mutation_p.G306D Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 329 Mediates interaction with MAD2L2. anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) AGTGATGTCGGCTCACTCCAT 0.532000 T VTI1A colorectal 4 105 0 0 1 0 0 PADI3 51702 broad.mit.edu 37 1 17597607 17597607 + Silent SNP C C T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr1:17597607C>T ENST00000375460.3 + 9 1021 c.981C>T c.(979-981)gcC>gcT p.A327A NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 327 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CAGAGCTGGCCAGGAAGGCCG 0.647000 5 35 0 0 1 0 0 MEG3 55384 broad.mit.edu 37 14 101311732 101311734 + RNA DEL CCT CCT - rs61149909 TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr14:101311732_101311734delCCT ENST00000554041.1 - 0 143 CCTCATCCGCCCTCCTCCTCCTC 0.606 2 4 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 4 4 --- --- --- --- FAM120C 54954 broad.mit.edu 37 X 54209302 54209303 + In_Frame_Ins INS - - GGCGGC TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chrX:54209302_54209303insGGCGGC ENST00000375180.2 - 1 385_386 c.329_330insGCCGCC c.(328-330)ccc>cGCCGCCcc p.109_110insRR FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 109 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GCAGCTGAGGGGGCGGCGGCGG 0.748 2 4 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149984524 149984526 + In_Frame_Del DEL GTG GTG - TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chrX:149984524_149984526delGTG ENST00000370377.3 - 3 273_275 c.156_158delCAC c.(154-159)aca>ac p.TT52del CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 52 Poly-Thr. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCTATTGGTTGTGGTGGTGGTGG 0.552 7 168 --- --- --- ---