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 WHAMMP3 339005 broad.mit.edu 37 15 23205094 23205094 + RNA SNP G G A TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr15:23205094G>A ENST00000400153.2 - 0 760 NR_003521.1 AGTACTGGAAGAACGTGGTTG 0.373000 3 24 0 0 1 0 0 KIF24 347240 broad.mit.edu 37 9 34255814 34255814 + Missense_Mutation SNP G G C TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr9:34255814G>C ENST00000379166.2 - 11 3910 c.3791C>G c.(3790-3792)gCa>gGa p.A1264G KIF24_ENST00000379174.3_Missense_Mutation_p.A1130G|KIF24_ENST00000402558.2_Missense_Mutation_p.A1264G|KIF24_ENST00000345050.2_Missense_Mutation_p.A1130G NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 1264 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) ACTTGGCCTTGCTAAGCACCT 0.557000 OREG0019148 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 1 0 0 1 0 0 SORCS2 57537 broad.mit.edu 37 4 7728540 7728540 + Missense_Mutation SNP C C T TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr4:7728540C>T ENST00000507866.2 + 21 2888 c.2779C>T c.(2779-2781)Cgg>Tgg p.R927W SORCS2_ENST00000329016.9_Missense_Mutation_p.R755W NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 927 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 TGTGACAACGCGGTTTTCGGA 0.657000 24 113 0 0 1 0 0 RBM48 84060 broad.mit.edu 37 7 92164086 92164086 + Missense_Mutation SNP A A T TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr7:92164086A>T ENST00000481551.1 + 4 860 c.819A>T c.(817-819)agA>agT p.R273S RBM48_ENST00000265732.5_Missense_Mutation_p.R273S Q5RL73 CG064_HUMAN RNA binding motif protein 48 273 nucleotide binding CAGTTGACAGATTTATGCCTA 0.423000 29 29 0 0 1 0 0 CACNG8 59283 broad.mit.edu 37 19 54485495 54485495 + Missense_Mutation SNP G G A TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr19:54485495G>A ENST00000270458.2 + 4 773 c.670G>A c.(670-672)Gtc>Atc p.V224I NM_031895.5 NP_114101.4 Q8WXS5 CCG8_HUMAN calcium channel, voltage-dependent, gamma subunit 8 224 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1) 13 all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.162) CGTGCTGGCCGTCAACATCTA 0.672000 8 17 0 0 1 0 0 LRRC24 441381 broad.mit.edu 37 8 145747957 145747957 + Missense_Mutation SNP C C T TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr8:145747957C>T ENST00000529415.2 - 5 1561 c.1444G>A c.(1444-1446)Gag>Aag p.E482K LRRC14_ENST00000292524.1_3'UTR|LRRC24_ENST00000533758.1_Missense_Mutation_p.E479K Q50LG9 LRC24_HUMAN leucine rich repeat containing 24 482 integral to membrane breast(2)|endometrium(1)|kidney(1)|lung(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GCCGGACCCTCGGCGAAGAGC 0.711000 6 13 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70404869 70404869 + Missense_Mutation SNP A A G TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr10:70404869A>G ENST00000373644.4 + 4 2592 c.2383A>G c.(2383-2385)Aaa>Gaa p.K795E NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 795 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 TAAATTCCTAAAAGACACTGC 0.348000 22 21 0 0 1 0 0 WHAMMP3 339005 broad.mit.edu 37 15 23205108 23205108 + RNA SNP C C T TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr15:23205108C>T ENST00000400153.2 - 0 746 NR_003521.1 GTGGTTGCCACGGTAACTAAT 0.393000 3 29 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77354692 77354692 + Missense_Mutation SNP G G A TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr9:77354692G>A ENST00000451710.3 - 33 5683 c.5446C>T c.(5446-5448)Cgg>Tgg p.R1816W TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1812W Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1812 Alpha-type protein kinase. response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TGCCATGTCCGCACAACCTCA 0.488000 4 129 0 0 1 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12799806 12799806 + Missense_Mutation SNP G G A TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr17:12799806G>A ENST00000379672.5 + 3 476 c.176G>A c.(175-177)gGg>gAg p.G59E ARHGAP44_ENST00000262444.9_Missense_Mutation_p.G59E|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.G59E NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 59 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.G59E(1) NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 GGCCAGCAAGGGGCAGAGGCT 0.597000 3 4 0 0 1 0 0 NDOR1 27158 broad.mit.edu 37 9 140109296 140109296 + Missense_Mutation SNP C C G TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr9:140109296C>G ENST00000371521.4 + 8 974 c.891C>G c.(889-891)caC>caG p.H297Q NDOR1_ENST00000427047.2_Missense_Mutation_p.H263Q|NDOR1_ENST00000344894.5_Missense_Mutation_p.H297Q|NDOR1_ENST00000458322.2_Missense_Mutation_p.H297Q NM_001144026.1 NP_001137498.1 Q9UHB4 NDOR1_HUMAN NADPH dependent diflavin oxidoreductase 1 297 FAD-binding FR-type. cell death cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) CCATGCGGCACCTCGTGTCCC 0.682000 38 34 0 0 1 0 0 DDB1 1642 broad.mit.edu 37 11 61077377 61077377 + Silent SNP G G A TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr11:61077377G>A ENST00000301764.7 - 20 2854 c.2457C>T c.(2455-2457)tgC>tgT p.C819C DDB1_ENST00000450997.2_Silent_p.C130C NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 819 Interaction with CDT1 and CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 TGCCCAGCTTGCAGGAAACCA 0.498000 Nucleotide excision repair (NER) 29 52 0 0 1 0 0 EEFSEC 60678 broad.mit.edu 37 3 128127069 128127069 + Silent SNP C C T TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr3:128127069C>T ENST00000254730.6 + 7 1812 c.1758C>T c.(1756-1758)ttC>ttT p.F586F EEFSEC_ENST00000483457.1_3'UTR NM_021937.3 NP_068756.2 P57772 SELB_HUMAN eukaryotic elongation factor, selenocysteine-tRNA-specific 586 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 GTTATGTCTTCGACACCCACA 0.647000 38 32 0 0 1 0 0 OR2W5 441932 broad.mit.edu 37 1 247654766 247654766 + RNA SNP G G A rs145704231 TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr1:247654766G>A ENST00000522351.1 + 0 397 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) CACCGAGTGCGTCCTCCTGGT 0.602000 18 54 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62935845 62935845 + Missense_Mutation SNP C C T TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr4:62935845C>T ENST00000514591.1 + 25 3958 c.3629C>T c.(3628-3630)gCc>gTc p.A1210V LPHN3_ENST00000508693.1_Silent_p.C1338C|LPHN3_ENST00000545650.1_Missense_Mutation_p.A1210V|LPHN3_ENST00000514157.1_Silent_p.C1261C|LPHN3_ENST00000506700.1_Silent_p.C1218C|LPHN3_ENST00000509896.1_Silent_p.C1295C|LPHN3_ENST00000506720.1_Missense_Mutation_p.A1321V|LPHN3_ENST00000506746.1_Missense_Mutation_p.A1312V|LPHN3_ENST00000504896.1_Silent_p.C1270C|LPHN3_ENST00000507164.1_Silent_p.C1329C|LPHN3_ENST00000514996.1_Missense_Mutation_p.A1244V|LPHN3_ENST00000508946.1_Missense_Mutation_p.A1253V|LPHN3_ENST00000512091.1_Silent_p.C1227C|LPHN3_ENST00000511324.1_Silent_p.C1286C|LPHN3_ENST00000507625.1_Missense_Mutation_p.A1269V Q9HAR2 LPHN3_HUMAN latrophilin 3 1188 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CTGAACAATGCCAGGGATACA 0.418000 21 30 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 4 31 0 0 1 0 0 PIPOX 51268 broad.mit.edu 37 17 27382105 27382105 + Missense_Mutation SNP G G T TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr17:27382105G>T ENST00000323372.4 + 6 1158 c.832G>T c.(832-834)Gca>Tca p.A278S PIPOX_ENST00000583215.1_3'UTR NM_016518.2 NP_057602.2 Q9P0Z9 SOX_HUMAN pipecolic acid oxidase 278 tetrahydrofolate metabolic process peroxisome L-pipecolate oxidase activity|sarcosine oxidase activity endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Lung NSC(42;0.015) Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) Glycine(DB00145) CGGCAACCACGCAGACCCTGA 0.602000 26 37 4.59853e-10 4.93501e-10 1 1 0 IFNL1 282618 broad.mit.edu 37 19 39789131 39789131 + Missense_Mutation SNP C C T TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr19:39789131C>T ENST00000333625.2 + 5 675 c.578C>T c.(577-579)aCg>aTg p.T193M NM_172140.1 NP_742152.1 interferon, lambda 1 TGTCTGAGAACGTCAACCCAC 0.527000 24 157 0 0 1 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21542168 21542168 + Silent SNP A A G TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr14:21542168A>G ENST00000298694.4 + 3 406 c.279A>G c.(277-279)gcA>gcG p.A93A ARHGEF40_ENST00000298693.3_Silent_p.A93A Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 93 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 TGCAGCTAGCAGCCCTACCCT 0.622000 19 42 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179425173 179425173 + Silent SNP C C A TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr2:179425173C>A ENST00000589042.1 - 326 85910 c.85686G>T c.(85684-85686)gtG>gtT p.V28562V TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.V19689V|TTN_ENST00000342992.6_Silent_p.V25994V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.V19497V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Silent_p.V26921V|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.V19622V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26921 Ig-like 132. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTCTTTGGTCACAGAAGTAA 0.408000 8 28 0.0381472 0.0381472 1 1 0 ELN 2006 broad.mit.edu 37 7 73467615 73467615 + Missense_Mutation SNP G G T TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr7:73467615G>T ENST00000252034.7 + 18 1471 c.1072G>T c.(1072-1074)Ggg>Tgg p.G358W ELN_ENST00000380575.4_Missense_Mutation_p.G348W|ELN_ENST00000414324.1_Missense_Mutation_p.G353W|ELN_ENST00000380553.4_Missense_Mutation_p.G241W|ELN_ENST00000380562.4_Missense_Mutation_p.G358W|ELN_ENST00000466878.1_3'UTR|ELN_ENST00000380576.5_Missense_Mutation_p.G358W|ELN_ENST00000458204.1_Missense_Mutation_p.G348W|ELN_ENST00000357036.5_Missense_Mutation_p.G363W|ELN_ENST00000445912.1_Missense_Mutation_p.G358W|ELN_ENST00000320399.6_Missense_Mutation_p.G358W|ELN_ENST00000320492.7_Missense_Mutation_p.G322W|ELN_ENST00000429192.1_Missense_Mutation_p.G363W|ELN_ENST00000358929.4_Missense_Mutation_p.G358W|ELN_ENST00000380584.4_Missense_Mutation_p.G344W NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 358 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) CCCAGGTGCTGGGATCCCAGG 0.567000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 38 35 1.57019e-19 1.7715e-19 1 1 0 APOB 338 broad.mit.edu 37 2 21235473 21235473 + Missense_Mutation SNP C C T TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr2:21235473C>T ENST00000233242.1 - 26 4394 c.4267G>A c.(4267-4269)Gat>Aat p.D1423N NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1423 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AGAGACCCATCATATGATAGT 0.338000 12 23 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 99012610 99012610 + Missense_Mutation SNP A A G TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr2:99012610A>G ENST00000393504.1 + 8 1394 c.977A>G c.(976-978)aAg>aGg p.K326R CNGA3_ENST00000409937.1_Missense_Mutation_p.K330R|CNGA3_ENST00000272602.2_Missense_Mutation_p.K326R|CNGA3_ENST00000436404.2_Missense_Mutation_p.K308R NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 326 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 GCCATTTCCAAGTTCATTGGT 0.473000 32 22 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119124969 119124969 + Silent SNP C C T rs144490263 TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr9:119124969C>T ENST00000328252.3 + 18 4815 c.4446C>T c.(4444-4446)aaC>aaT p.N1482N PAPPA_ENST00000534838.1_Silent_p.N520N NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1482 Sushi 5. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CGGTTCCAAACGAGCTCAACA 0.557000 18 31 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 21 0 0 1 0 0 ANO7 50636 broad.mit.edu 37 2 242154251 242154251 + Missense_Mutation SNP C C T TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr2:242154251C>T ENST00000274979.8 + 18 2025 c.1922C>T c.(1921-1923)gCa>gTa p.A641V ANO7_ENST00000402430.3_Missense_Mutation_p.A640V NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 641 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 ATCGAGCTGGCACAGGAGCTC 0.627000 16 22 0 0 1 0 0 SLC35E4 339665 broad.mit.edu 37 22 31042978 31042978 + Missense_Mutation SNP G G A TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr22:31042978G>A ENST00000343605.4 + 2 1812 c.1013G>A c.(1012-1014)cGg>cAg p.R338Q SLC35E4_ENST00000406566.1_Intron|SLC35E4_ENST00000300385.8_Intron NM_001001479.2 NP_001001479.1 Q6ICL7 S35E4_HUMAN solute carrier family 35, member E4 338 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 10 GCTGCCCGTCGGGGGCTGTGG 0.637000 14 26 0 0 1 0 0 LACC1 144811 broad.mit.edu 37 13 44455134 44455134 + Missense_Mutation SNP G G T TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr13:44455134G>T ENST00000441843.1 + 2 498 c.13G>T c.(13-15)Gtt>Ttt p.V5F LACC1_ENST00000325686.6_Missense_Mutation_p.V5F NM_001128303.1 NP_001121775.1 Q8IV20 CM031_HUMAN laccase (multicopper oxidoreductase) domain containing 1 5 GGCAGAAGCTGTTTTGATTGA 0.313000 10 18 4.68919e-08 4.91248e-08 1 1 0 RBM46 166863 broad.mit.edu 37 4 155719277 155719277 + Nonsense_Mutation SNP G G T TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr4:155719277G>T ENST00000510397.1 + 3 645 c.466G>T c.(466-468)Gaa>Taa p.E156* RBM46_ENST00000281722.3_Nonsense_Mutation_p.E156*|RBM46_ENST00000514866.1_Nonsense_Mutation_p.E156* NM_001277173.1 NP_001264102.1 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 156 RRM 2. nucleotide binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0854) GAAGAAAGAAGAAATTTTAGA 0.333000 23 23 2.39556e-15 2.63512e-15 1 1 0 ABI3BP 25890 broad.mit.edu 37 3 100621501 100621501 + Nonsense_Mutation SNP G G A TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr3:100621501G>A ENST00000471714.1 - 3 419 c.310C>T c.(310-312)Cga>Tga p.R104* ABI3BP_ENST00000284322.5_Nonsense_Mutation_p.R104*|ABI3BP_ENST00000495063.1_Nonsense_Mutation_p.R104*|ABI3BP_ENST00000532144.1_5'UTR Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 104 extracellular space p.R104*(2) central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 GGAGCAGGTCGCACAACTATC 0.408000 10 21 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 54 64 0 0 1 0 0 GSAP 54103 broad.mit.edu 37 7 76940739 76940739 + Missense_Mutation SNP T T C TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr7:76940739T>C ENST00000257626.7 - 31 2579 c.2501A>G c.(2500-2502)aAt>aGt p.N834S GSAP_ENST00000441833.2_Missense_Mutation_p.N155S NM_017439.3 NP_059135.2 gamma-secretase activating protein TGCATCCACATTGTCATGTCC 0.438000 5 53 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131982849 131982849 + Splice_Site SNP C C T TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr7:131982849C>T ENST00000359827.3 - 4 2466 c.e4+1 PLXNA4_ENST00000321063.4_Splice_Site Q9HCM2 PLXA4_HUMAN plexin A4 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 AAGAGCCTTACCTGCCTCTCT 0.547000 67 75 0 0 1 0 0 LGI3 203190 broad.mit.edu 37 8 22011545 22011545 + Missense_Mutation SNP C C T TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr8:22011545C>T ENST00000306317.2 - 5 719 c.430G>A c.(430-432)Gcc>Acc p.A144T LGI3_ENST00000424267.2_Missense_Mutation_p.A120T NM_139278.2 NP_644807.1 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 144 exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 17 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) TTATTGTTGGCCAGCGAGCTG 0.557000 3 38 0 0 1 0 0 GUCA1A 2978 broad.mit.edu 37 6 42147001 42147001 + Frame_Shift_Del DEL T T - TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr6:42147001delT ENST00000394237.1 + 6 1442 c.466delT c.(466-468)ttfs p.F156fs GUCA1A_ENST00000053469.4_Frame_Shift_Del_p.F156fs|GUCA1A_ENST00000372958.1_Frame_Shift_Del_p.F156fs|GUCA1A_ENST00000541991.1_Frame_Shift_Del_p.F156fs P43080 GUC1A_HUMAN guanylate cyclase activator 1A (retina) 156 EF-hand 4. signal transduction|visual perception membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 7 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CCTGGAAGAGTTTATAGAGGG 0.572 13 92 --- --- --- --- KCNB2 9312 broad.mit.edu 37 8 73850042 73850054 + Frame_Shift_Del DEL CTCCCAGGGGCAA CTCCCAGGGGCAA - TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr8:73850042_73850054delCTCCCAGGGGCAA ENST00000523207.1 + 3 3040_3052 c.2452_2464delCTCCCAGGGGCAA c.(2452-2466)ggfs p.LPGAR818fs NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 818 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.P819S(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CTTCTTAGAGCTCCCAGGGGCAAGGGAGGAGAA 0.521 11 91 --- --- --- --- LDHAL6CP 121498 broad.mit.edu 37 12 63398142 63398143 + RNA INS - - AA TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr12:63398142_63398143insAA ENST00000552996.1 - 0 509_510 LDHAL6CP_ENST00000550738.1_RNA TAGGAACTGATAAAGATCCTGA 0.426 7 15 --- --- --- --- HERC2P2 400322 broad.mit.edu 37 15 23312380 23312380 + RNA DEL T T - TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr15:23312380delT ENST00000560464.1 - 0 3118 TGTTAttttcttttttttttt 0.398 2 4 --- --- --- --- LRRC37A7P 100421589 broad.mit.edu 37 18 29304425 29304425 + RNA DEL C C - TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr18:29304425delC ENST00000583900.1 + 0 265 TAACTCCCCACCCCCGGGCAG 0.622 2 4 --- --- --- --- AC007204.2 0 broad.mit.edu 37 19 20067365 20067367 + RNA DEL AGG AGG - TCGA-D3-A5GT-01A-12D-A30X-08 TCGA-D3-A5GT-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9845461c-1119-4c8e-9ff7-c65552c47f03 ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8 g.chr19:20067365_20067367delAGG ENST00000592245.1 + 0 72 AAGCTGGGCAAGGAGAACTCGGG 0.621 2 4 --- --- --- ---