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 DVL2 1856 broad.mit.edu 37 17 7132713 7132713 + Silent SNP T T C TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr17:7132713T>C ENST00000005340.5 - 7 1083 c.801A>G c.(799-801)acA>acG p.T267T DVL2_ENST00000575458.1_Silent_p.T261T|DVL2_ENST00000574642.1_5'UTR NM_004422.2 NP_004413.1 O14641 DVL2_HUMAN dishevelled segment polarity protein 2 267 PDZ. canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25 TTAGCGTGACTGTGATGATAT 0.567000 37 55 0 0 1 0 0 TINAG 27283 broad.mit.edu 37 6 54191662 54191662 + Missense_Mutation SNP G G A TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr6:54191662G>A ENST00000259782.4 + 4 668 c.572G>A c.(571-573)cGc>cAc p.R191H TINAG_ENST00000370869.3_Missense_Mutation_p.R187H|TINAG_ENST00000370864.3_Missense_Mutation_p.R173H NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 191 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity p.R191H(1)|p.R191L(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) TTTAAATTTCGCCTTGGCACT 0.373000 30 54 0 0 1 0 0 TRIM9 114088 broad.mit.edu 37 14 51448645 51448645 + Missense_Mutation SNP G G C TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr14:51448645G>C ENST00000298355.3 - 8 2901 c.1780C>G c.(1780-1782)Cct>Gct p.P594A TRIM9_ENST00000338969.5_Missense_Mutation_p.P675A NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 594 B30.2/SPRY. proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) CCAAAGGCAGGATCAGGGTGG 0.517000 41 53 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29614328 29614328 + Splice_Site SNP G G A rs137860963 by1000genomes TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr20:29614328G>A ENST00000278882.3 + 2 320 c.e2+1 FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGATACGTTGGTGAGTCAGTT 0.289000 4 23 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142481789 142481789 + RNA SNP T T C rs140267598 by1000genomes TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr7:142481789T>C ENST00000603901.1 + 0 468 NR_001296.3 ACTACCCAGATGAGCTGCAGT 0.488000 6 66 0 0 1 0 0 SLC37A3 84255 broad.mit.edu 37 7 140058508 140058508 + Silent SNP G G A rs142313913 byFrequency TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr7:140058508G>A ENST00000326232.9 - 6 656 c.453C>T c.(451-453)aaC>aaT p.N151N SLC37A3_ENST00000429996.2_Intron|SLC37A3_ENST00000461089.1_5'UTR|SLC37A3_ENST00000340308.3_Silent_p.N151N|SLC37A3_ENST00000447932.2_Silent_p.N151N NM_207113.1 NP_996996.1 Q8NCC5 SPX3_HUMAN solute carrier family 37, member 3 151 carbohydrate transport|transmembrane transport integral to membrane endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3) 24 Melanoma(164;0.0142) GCAGCAGGCCGTTCACAATCC 0.512000 61 92 0 0 1 0 0 GLIS2 84662 broad.mit.edu 37 16 4383346 4383346 + Splice_Site SNP A A G TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr16:4383346A>G ENST00000262366.3 + 4 993 c.e4-1 GLIS2_ENST00000433375.1_Splice_Site|PAM16_ENST00000577031.1_Intron Q9BZE0 GLIS2_HUMAN GLIS family zinc finger 2 cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development cytoplasm|nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 11 CCTCTCCCTCAGGCTTCCTGC 0.612000 3 40 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47220609 47220609 + Missense_Mutation SNP G G A TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr2:47220609G>A ENST00000319190.5 + 6 1153 c.785G>A c.(784-786)aGa>aAa p.R262K TTC7A_ENST00000394850.2_Missense_Mutation_p.R262K|TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.R228K NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 262 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) AAGGGCATGAGAGAGCTCCGG 0.547000 46 47 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211148 78211148 + RNA SNP C C T rs12592276 by1000genomes TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr15:78211148C>T ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA AGCTGCTTGTCGAGCTTGTGG 0.597000 5 65 0 0 1 0 0 PMS2P4 0 broad.mit.edu 37 7 66764392 66764392 + RNA SNP T T C rs75182069 by1000genomes TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr7:66764392T>C ENST00000414507.1 - 0 63 ATAGGTTTGATGGCCTTAGCA 0.418000 9 229 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38739794 38739794 + Silent SNP G G A rs142804903 TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr3:38739794G>A ENST00000449082.2 - 27 4916 c.4917C>T c.(4915-4917)gaC>gaT p.D1639D NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1639 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGAACATGTCGTCGATGCCAG 0.547000 71 69 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791757 42791757 + Missense_Mutation SNP C C T TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr19:42791757C>T ENST00000572681.2 + 6 3438 c.3370C>T c.(3370-3372)Cgg>Tgg p.R1124W CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W Q96RK0 CIC_HUMAN capicua transcriptional repressor 215 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.R215W(4) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CAAGCGGCACCGGGCCCTGGT 0.612000 """Mis, F, S""" oligodendroglioma 36 10 0 0 1 0 0 SLITRK6 84189 broad.mit.edu 37 13 86370348 86370348 + Missense_Mutation SNP T T C TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr13:86370348T>C ENST00000400286.2 - 2 894 c.296A>G c.(295-297)aAt>aGt p.N99S NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 99 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) ATCTGCAATATTGTTAAATCC 0.353000 73 20 0 0 1 0 0 CMKLR1 1240 broad.mit.edu 37 12 108685742 108685742 + Missense_Mutation SNP C C T TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr12:108685742C>T ENST00000312143.7 - 3 1361 c.998G>A c.(997-999)cGc>cAc p.R333H CMKLR1_ENST00000412676.1_Missense_Mutation_p.R333H|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R333H|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R331H|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R331H NM_001142344.1|NM_004072.2 NP_001135816.1|NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 333 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 ATTGACCAGGCGAGAGAAGAG 0.483000 29 54 0 0 1 0 0 OR6Q1 219952 broad.mit.edu 37 11 57799000 57799000 + Silent SNP G G A TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr11:57799000G>A ENST00000302622.3 + 1 599 c.576G>A c.(574-576)tcG>tcA p.S192S OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) TAGCCTTGTCGTGCTCAGATG 0.498000 65 61 0 0 1 0 0 PSMD4 5710 broad.mit.edu 37 1 151237660 151237660 + Missense_Mutation SNP C C T TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr1:151237660C>T ENST00000368884.3 + 5 468 c.388C>T c.(388-390)Cgc>Tgc p.R130C PSMD4_ENST00000368881.4_Missense_Mutation_p.R130C NM_002810.2 NP_002801.1 P55036 PSMD4_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 130 VWFA. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|lung(7) 11 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ACTGGCTAAACGCCTCAAGAA 0.443000 4 19 0 0 1 0 0 IDH2 3418 broad.mit.edu 37 15 90631838 90631838 + Missense_Mutation SNP C C T rs121913503 TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr15:90631838C>T ENST00000330062.3 - 4 628 c.515G>A c.(514-516)aGg>aAg p.R172K IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000559482.1_Intron NM_002168.2 NP_002159.2 P48735 IDHP_HUMAN isocitrate dehydrogenase 2 (NADP+), mitochondrial 172 2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding p.R172K(116)|p.R172M(21)|p.R172N(1) biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5) 1109 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106) ATGGGCGTGCCTGCCAATGGT 0.632000 M GBM 34 30 0 0 1 0 0 AGPS 8540 broad.mit.edu 37 2 178386040 178386040 + Missense_Mutation SNP T T G TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr2:178386040T>G ENST00000264167.4 + 18 1887 c.1741T>G c.(1741-1743)Ttt>Gtt p.F581V AGPS_ENST00000409888.1_Intron NM_003659.3 NP_003650.1 O00116 ADAS_HUMAN alkylglycerone phosphate synthase 581 ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) CTACTTCTATTTTGCCTTTAA 0.383000 33 67 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48703456 48703456 + Missense_Mutation SNP T T C TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr17:48703456T>C ENST00000352832.5 + 34 6469 c.6097T>C c.(6097-6099)Tcc>Ccc p.S2033P CACNA1G_ENST00000515765.1_Missense_Mutation_p.S2104P|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S2074P|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S2010P|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S2149P|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S2089P|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S2070P|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S2097P|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S2160P|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S2056P|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S2022P|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S2015P|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S2067P|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S2081P|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S2115P|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S2060P|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S2126P|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S2026P|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S2044P|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S2049P|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S2033P|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S2042P NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 2160 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GAGTGGGCCCTCCCCGCCCCT 0.642000 OREG0024569 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 31 0 0 1 0 0 UTP14C 9724 broad.mit.edu 37 13 52605154 52605154 + Nonsense_Mutation SNP C C G rs141049018 byFrequency TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr13:52605154C>G ENST00000521776.2 + 2 2947 c.2214C>G c.(2212-2214)taC>taG p.Y738* NM_021645.5 NP_067677.4 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 738 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) ATGTGGGCTACCAGTCTTCCT 0.483000 4 72 0 0 1 0 0 RRN3P1 0 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 4 17 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107748127 107748127 + Missense_Mutation SNP G G T TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr7:107748127G>T ENST00000388781.3 - 6 623 c.540C>A c.(538-540)gaC>gaA p.D180E LAMB4_ENST00000414450.2_Missense_Mutation_p.D180E|LAMB4_ENST00000205386.4_Missense_Mutation_p.D180E|LAMB4_ENST00000388780.3_Missense_Mutation_p.D180E NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 180 Laminin N-terminal. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 CACAAACAATGTCTCCCACTC 0.398000 26 34 3.80469e-20 4.01035e-20 1 1 0 VPS13A 23230 broad.mit.edu 37 9 79936584 79936584 + Missense_Mutation SNP G G A TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr9:79936584G>A ENST00000360280.3 + 44 6012 c.5752G>A c.(5752-5754)Gat>Aat p.D1918N VPS13A_ENST00000376634.4_Missense_Mutation_p.D1918N|VPS13A_ENST00000357409.5_Missense_Mutation_p.D1918N|VPS13A_ENST00000376636.3_Missense_Mutation_p.D1879N NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 1918 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TTTAAGTATGGATTATATCCG 0.338000 24 35 0 0 1 0 0 CRYAB 1410 broad.mit.edu 37 11 111780950 111780950 + Missense_Mutation SNP G G T TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr11:111780950G>T ENST00000533971.1 - 2 516 c.425C>A c.(424-426)cCa>cAa p.P142Q CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000526180.1_Intron|CRYAB_ENST00000227251.3_Intron|CRYAB_ENST00000531198.1_Intron|CRYAB_ENST00000533280.1_Intron|CRYAB_ENST00000525823.1_Intron|CRYAB_ENST00000533475.1_Intron P02511 CRYAB_HUMAN crystallin, alpha B 0 anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat cytoplasm|nucleus protein homodimerization activity|structural constituent of eye lens|unfolded protein binding endometrium(1)|large_intestine(1)|lung(2)|skin(4) 8 all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051) GTTATGGCTTGGGACTGGAAT 0.418000 6 16 0.00198382 0.00198382 1 1 0 PADI6 353238 broad.mit.edu 37 1 17721722 17721723 + RNA DEL GA GA - rs58784721 TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr1:17721722_17721723delGA ENST00000434762.2 + 0 1545 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 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;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) tttgttttttgagagtcttgct 0.485 2 4 --- --- --- --- PADI6 353238 broad.mit.edu 37 1 17723476 17723477 + RNA INS - - CA rs67024576 by1000genomes TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr1:17723476_17723477insCA ENST00000434762.2 + 0 1669 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 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;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) AGGAATGCACCCAGGTGGCTGG 0.629 5 1 --- --- --- --- PIK3CA 5290 broad.mit.edu 37 3 178916938 178916940 + In_Frame_Del DEL GAA GAA - TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr3:178916938_178916940delGAA ENST00000263967.3 + 2 482_484 c.325_327delGAA c.(325-327)del p.E110del NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 110 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E109del(3)|p.G106_R108del(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AGGCAACCGTGAAGAAAAGATCC 0.340 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 44 54 --- --- --- --- NR4A3 0 broad.mit.edu 37 9 102590616 102590618 + In_Frame_Del DEL CAC CAC - TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr9:102590616_102590618delCAC ENST00000330847.1 + 2 369_371 c.325_327delCAC c.(325-327)del p.H119del NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 108 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) ccatcaccatcaccaccaccacc 0.616 T EWSR1 extraskeletal myxoid chondrosarcoma 8 58 --- --- --- --- VASN 114990 broad.mit.edu 37 16 4431389 4431391 + In_Frame_Del DEL CTG CTG - TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr16:4431389_4431391delCTG ENST00000304735.3 + 2 666_668 c.511_513delCTG c.(511-513)del p.L174del CORO7_ENST00000537233.2_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000423908.2_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000539968.1_Intron NM_138440.2 NP_612449.2 Q6EMK4 VASN_HUMAN vasorin 174 extracellular region|integral to membrane breast(1)|lung(3)|prostate(1)|skin(1) 6 CCTGCCCCGCCTGCTGCTGCTGG 0.704 2 4 --- --- --- --- SLC12A4 6560 broad.mit.edu 37 16 67986327 67986340 + Splice_Site DEL GTCTGAAACAAGAA GTCTGAAACAAGAA - TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr16:67986327_67986340delGTCTGAAACAAGAA ENST00000422611.2 - 6 721_722 c.681_splice c.e6-1 p.228_splice SLC12A4_ENST00000576616.1_Splice_Site_p.226_splice|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000338335.3_Splice_Site_p.226_splice|SLC12A4_ENST00000541864.2_Splice_Site_p.195_splice|SLC12A4_ENST00000316341.3_Splice_Site_p.226_splice|SLC12A4_ENST00000537830.2_Splice_Site_p.220_splice|SLC12A4_ENST00000572037.1_Splice_Site_p.178_splice NM_001145962.1 NP_001139434.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 226 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) GGCAATGTAGGTCTGAAACAAGAAGATGGATAAG 0.449 17 100 --- --- --- --- PLCD3 113026 broad.mit.edu 37 17 43198453 43198453 + Frame_Shift_Del DEL C C - TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr17:43198453delC ENST00000322765.5 - 3 483 c.370delG c.(370-372)agfs p.E124fs PLCD3_ENST00000540511.1_5'UTR NM_133373.3 NP_588614.1 Q8N3E9 PLCD3_HUMAN phospholipase C, delta 3 124 PH. intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) CGCAGGCCCTCGGACTGGTGG 0.736 2 4 --- --- --- --- TGIF1 7050 broad.mit.edu 37 18 3452223 3452223 + Frame_Shift_Del DEL T T - rs11571510 TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr18:3452223delT ENST00000330513.5 + 1 549 c.246delT c.(244-246)ccfs p.P85fs TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000407501.2_Intron NM_170695.2 NP_733796.2 Q15583 TGIF1_HUMAN TGFB-induced factor homeobox 1 85 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.P83fs*51(1) cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Esophageal squamous(4;0.0859) Colorectal(8;0.0104) GCGCCCCCCCTCCTCCACCGG 0.766 13 2 --- --- --- --- FUT5 2527 broad.mit.edu 37 19 5867346 5867347 + Frame_Shift_Ins INS - - GG rs111394159 TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c29c663-c1ec-468e-9e86-74a2b70da59e 0ba3d269-712a-4990-a51b-7288d4f2adbb g.chr19:5867346_5867347insGG ENST00000252675.5 - 5 952_953 c.390_391insCC c.(388-393)ccgtgcfs p.C131fs FUT5_ENST00000588525.1_Frame_Shift_Ins_p.C131fs Q11128 FUT5_HUMAN fucosyltransferase 5 (alpha (1,3) fucosyltransferase) 131 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 AGGTTGGCACTGGGGTTGTACA 0.663 25 39 --- --- --- ---