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 GPR4 2828 broad.mit.edu 37 19 46094655 46094655 + Missense_Mutation SNP T T A TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chr19:46094655T>A ENST00000323040.4 - 2 1414 c.470A>T c.(469-471)gAg>gTg p.E157V OPA3_ENST00000544371.1_Intron NM_005282.2 NP_005273.1 P46093 GPR4_HUMAN G protein-coupled receptor 4 157 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) TCGGAAGAGCTCGTCATGGAA 0.652000 11 85 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946434 16946434 + RNA SNP C C T rs367060 TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chr1:16946434C>T ENST00000412962.1 - 0 1085 CTCAGCCTTCCGCCGGGCCAG 0.672000 3 15 0 0 1 0 0 MLLT4-AS1 0 broad.mit.edu 37 6 168227250 168227250 + RNA SNP C C T TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chr6:168227250C>T ENST00000359760.5 - 0 139 NR_027906.1 CCGGACTCTGCACCGCGCGTC 0.667000 8 29 0 0 1 0 0 GPR101 83550 broad.mit.edu 37 X 136112376 136112376 + Missense_Mutation SNP G G T TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chrX:136112376G>T ENST00000298110.1 - 1 1457 c.1458C>A c.(1456-1458)gaC>gaA p.D486E NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 486 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) TTCCGGGCAGGTCTGGGTGGC 0.478000 22 77 1.87028e-06 1.94222e-06 1 1 0 AGPAT6 137964 broad.mit.edu 37 8 41470442 41470442 + Missense_Mutation SNP C C T TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chr8:41470442C>T ENST00000396987.3 + 8 1801 c.874C>T c.(874-876)Cgc>Tgc p.R292C RP11-360L9.8_ENST00000581909.1_RNA NM_178819.3 NP_848934.1 Q86UL3 GPAT4_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 6 292 acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction glycerol-3-phosphate O-acyltransferase activity endometrium(3)|kidney(2)|large_intestine(3)|lung(6) 14 Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147) CTGGTTTGAGCGCTCGGAAGT 0.552000 OREG0018739 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 14 0 0 1 0 0 KRT9 3857 broad.mit.edu 37 17 39725743 39725743 + Missense_Mutation SNP G G A TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chr17:39725743G>A ENST00000246662.4 - 4 1044 c.979C>T c.(979-981)Cgt>Tgt p.R327C KRT9_ENST00000588431.1_Missense_Mutation_p.R94C NM_000226.3 NP_000217.2 P35527 K1C9_HUMAN keratin 9 327 Coil 2.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) TACTCCTGACGCATGTCATTG 0.502000 9 47 0 0 1 0 0 LAIR2 3904 broad.mit.edu 37 19 55020248 55020248 + Missense_Mutation SNP G G C rs12949 by1000genomes TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chr19:55020248G>C ENST00000301202.2 + 4 490 c.368G>C c.(367-369)aGc>aCc p.S123T LAIR2_ENST00000351841.2_Intron NM_002288.4 NP_002279.2 Q6ISS4 LAIR2_HUMAN leukocyte-associated immunoglobulin-like receptor 2 123 extracellular region receptor activity p.S123T(1) central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1) 18 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) TTTACAGAAAGCTCTGGAGGC 0.627000 3 12 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195717102 195717102 + RNA SNP A A G TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chr3:195717102A>G ENST00000427841.1 - 0 48 NR_003264.2 GCGCTTGGCAACCGCGACAGG 0.776000 4 12 0 0 1 0 0 MAN1A1 4121 broad.mit.edu 37 6 119569448 119569448 + Silent SNP A A C TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chr6:119569448A>C ENST00000368468.3 - 6 1410 c.969T>G c.(967-969)ccT>ccG p.P323P MAN1A1_ENST00000368466.2_Silent_p.P346P NM_005907.3 NP_005898.2 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 323 post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) GCAATGCCCAAGGTATTCCAG 0.343000 10 29 0 0 1 0 0 AGPAT6 137964 broad.mit.edu 37 8 41470441 41470441 + Silent SNP G G A TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chr8:41470441G>A ENST00000396987.3 + 8 1800 c.873G>A c.(871-873)gaG>gaA p.E291E RP11-360L9.8_ENST00000581909.1_RNA NM_178819.3 NP_848934.1 Q86UL3 GPAT4_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 6 291 acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction glycerol-3-phosphate O-acyltransferase activity endometrium(3)|kidney(2)|large_intestine(3)|lung(6) 14 Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147) TCTGGTTTGAGCGCTCGGAAG 0.547000 OREG0018739 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 14 0 0 1 0 0 TNNT3 7140 broad.mit.edu 37 11 1956128 1956128 + Missense_Mutation SNP G G C TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chr11:1956128G>C ENST00000381558.1 + 13 915 c.636G>C c.(634-636)aaG>aaC p.K212N TNNT3_ENST00000360603.3_Missense_Mutation_p.K214N|TNNT3_ENST00000381548.3_Missense_Mutation_p.K222N|TNNT3_ENST00000381561.4_Missense_Mutation_p.K223N|TNNT3_ENST00000446240.1_Missense_Mutation_p.K201N|TNNT3_ENST00000381579.3_Missense_Mutation_p.K212N|TNNT3_ENST00000397301.1_Missense_Mutation_p.K231N|TNNT3_ENST00000278317.6_Missense_Mutation_p.K220N|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000397304.2_Missense_Mutation_p.K201N|TNNT3_ENST00000381589.3_Missense_Mutation_p.K218N|TNNT3_ENST00000381549.3_Missense_Mutation_p.K212N P45378 TNNT3_HUMAN troponin T type 3 (skeletal, fast) 231 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1) 19 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) TTGGGGAGAAGCTGAAACGCC 0.612000 31 108 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 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 11 56 0 0 1 0 0 PHKA2 5256 broad.mit.edu 37 X 18913268 18913268 + Silent SNP C C T TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chrX:18913268C>T ENST00000379942.4 - 31 3989 c.3324G>A c.(3322-3324)tcG>tcA p.S1108S PHKA2_ENST00000481718.1_5'UTR NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 1108 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) CTCGGGTCGTCGAGGATGGGA 0.527000 25 89 0 0 1 0 0 PELI1 57162 broad.mit.edu 37 2 64323399 64323399 + Missense_Mutation SNP T T C TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chr2:64323399T>C ENST00000358912.4 - 6 992 c.550A>G c.(550-552)Acc>Gcc p.T184A NM_020651.3 NP_065702.2 Q96FA3 PELI1_HUMAN pellino E3 ubiquitin protein ligase 1 184 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 19 CCATTAGTGGTCAAGCCATCC 0.428000 5 66 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195717098 195717098 + RNA SNP G G A TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chr3:195717098G>A ENST00000427841.1 - 0 52 NR_003264.2 CCGAGCGCTTGGCAACCGCGA 0.781000 4 12 0 0 1 0 0 SYF2 25949 broad.mit.edu 37 1 25553932 25553934 + Splice_Site DEL CTG CTG - TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chr1:25553932_25553934delCTG ENST00000236273.4 - 5 491_493 c.467_splice c.e5+1 p.156_splice SYF2_ENST00000354361.3_Splice_Site_p.114_splice NM_015484.4 NP_056299.1 O95926 SYF2_HUMAN SYF2 pre-mRNA-splicing factor 156 catalytic step 2 spliceosome kidney(1)|large_intestine(1)|lung(4) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201) AAAGGACTTACTGTTTTTCTCTC 0.384 9 98 --- --- --- --- GJA3 2700 broad.mit.edu 37 13 20716349 20716349 + Frame_Shift_Del DEL G G - TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chr13:20716349delG ENST00000241125.3 - 2 1255 c.1079delC c.(1078-1080)cgfs p.P361fs NM_021954.3 NP_068773.2 Q9Y6H8 CXA3_HUMAN gap junction protein, alpha 3, 46kDa 361 cell-cell signaling|visual perception connexon complex|integral to membrane NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784) CGCGAGTGGCGGGGAGCTGCT 0.766 2 4 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 2 4 --- --- --- ---