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 NLRP12 91662 broad.mit.edu 37 19 54313268 54313268 + Missense_Mutation SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr19:54313268C>T ENST00000324134.6 - 3 1813 c.1645G>A c.(1645-1647)Gcg>Acg p.A549T NLRP12_ENST00000391773.1_Missense_Mutation_p.A549T|NLRP12_ENST00000351894.4_Missense_Mutation_p.A549T|NLRP12_ENST00000391772.1_Missense_Mutation_p.A549T|NLRP12_ENST00000535162.1_Missense_Mutation_p.A549T|NLRP12_ENST00000391775.3_Missense_Mutation_p.A549T|NLRP12_ENST00000354278.3_Missense_Mutation_p.A549T|NLRP12_ENST00000345770.5_Missense_Mutation_p.A549T NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 549 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TCAGAAAACGCGTACTCGGTC 0.572000 67 91 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116548892 116548892 + Missense_Mutation SNP G G C TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr2:116548892G>C ENST00000410059.1 + 19 2140 c.1660G>C c.(1660-1662)Gat>Cat p.D554H DPP10_ENST00000409163.1_Missense_Mutation_p.D504H|DPP10_ENST00000393147.2_Missense_Mutation_p.D558H|DPP10_ENST00000310323.8_Missense_Mutation_p.D547H NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 554 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 CCTTCCCAAAGATTTTATGGA 0.299000 26 35 0 0 1 0 0 FAXC 84553 broad.mit.edu 37 6 99729258 99729258 + Missense_Mutation SNP C C A TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr6:99729258C>A ENST00000389677.5 - 6 1294 c.1012G>T c.(1012-1014)Gat>Tat p.D338Y FAXC_ENST00000461803.1_5'UTR|FAXC_ENST00000538471.1_Missense_Mutation_p.D58Y NM_032511.2 NP_115900.1 Q5TGI0 CF168_HUMAN failed axon connections homolog (Drosophila) 338 GTATTGTCATCATCGTGGTGC 0.483000 37 62 6.29468e-14 6.81924e-14 1 1 0 OR5D13 390142 broad.mit.edu 37 11 55541562 55541562 + Silent SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr11:55541562C>T ENST00000361760.1 + 1 649 c.649C>T c.(649-651)Ctg>Ttg p.L217L NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) AATTATCATTCTGACATCATA 0.438000 7 184 0 0 1 0 0 SLC39A8 64116 broad.mit.edu 37 4 103236897 103236897 + Missense_Mutation SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr4:103236897C>T ENST00000424970.2 - 3 625 c.310G>A c.(310-312)Gtc>Atc p.V104I SLC39A8_ENST00000394833.2_Missense_Mutation_p.V104I|SLC39A8_ENST00000356736.4_Missense_Mutation_p.V104I|SLC39A8_ENST00000510255.1_5'UTR NM_001135147.1 NP_001128619.1 Q9C0K1 S39A8_HUMAN solute carrier family 39 (zinc transporter), member 8 104 integral to membrane|organelle membrane|plasma membrane zinc ion transmembrane transporter activity large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Hepatocellular(203;0.217) all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142) TGCTGTAAGACTGCTGGACAG 0.393000 16 115 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50682457 50682457 + Silent SNP C C A TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr22:50682457C>A ENST00000439308.2 - 1 924 c.432G>T c.(430-432)ccG>ccT p.P144P TUBGCP6_ENST00000248846.5_Silent_p.P144P NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 144 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) AGCCGCTGTACGGAACGTTTC 0.512000 13 61 4.3838e-07 4.58535e-07 1 1 0 HSP90AB1 3326 broad.mit.edu 37 6 44218816 44218816 + Missense_Mutation SNP G G A TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr6:44218816G>A ENST00000371554.1 + 7 1203 c.989G>A c.(988-990)aGg>aAg p.R330K HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R330K|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R330K P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 330 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TTGGAATTCAGGGCATTGCTA 0.398000 85 123 0 0 1 0 0 LOC645166 645166 broad.mit.edu 37 1 148933291 148933291 + RNA SNP G G A TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr1:148933291G>A ENST00000539543.1 + 0 177 NR_027355.1 CTGCCCGCAGGATATTGTGGC 0.557000 3 17 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963928 88963928 + Silent SNP T T C TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr7:88963928T>C ENST00000333190.4 + 4 2241 c.1632T>C c.(1630-1632)gaT>gaC p.D544D NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 544 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CTAATCCGGATTGGGAAAAAT 0.348000 HNSCC(36;0.09) 8 47 0 0 1 0 0 EIF2S1 1965 broad.mit.edu 37 14 67831619 67831619 + Missense_Mutation SNP G G A TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr14:67831619G>A ENST00000256383.4 + 2 596 c.135G>A c.(133-135)atG>atA p.M45I EIF2S1_ENST00000466499.2_Missense_Mutation_p.M45I NM_004094.4 NP_004085.1 P05198 IF2A_HUMAN eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa 45 S1 motif. cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule protein binding|ribosome binding|translation initiation factor activity breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937) TTGAAGGCATGATTCTTCTTA 0.428000 36 202 0 0 1 0 0 ZNF106 64397 broad.mit.edu 37 15 42729429 42729429 + Splice_Site SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr15:42729429C>T ENST00000263805.4 - 10 5004 c.e10+1 ZNF106_ENST00000565611.1_Splice_Site|ZNF106_ENST00000565380.1_Splice_Site NM_022473.1 NP_071918.1 zinc finger protein 106 TATCAACTTACCACCAGATTA 0.368000 29 67 0 0 1 0 0 DSCC1 79075 broad.mit.edu 37 8 120847202 120847202 + Silent SNP G G A TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr8:120847202G>A ENST00000313655.4 - 9 1327 c.1113C>T c.(1111-1113)ctC>ctT p.L371L NM_024094.2 NP_076999.2 Q9BVC3 DCC1_HUMAN DNA replication and sister chromatid cohesion 1 371 DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication chromatin|chromosome, centromeric region|nucleoplasm DNA binding|protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1) 9 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) AATATTTAGTGAGTAATGCAC 0.318000 15 36 0 0 1 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67315487 67315487 + Silent SNP C C T rs145774796 TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr16:67315487C>T ENST00000360461.5 + 5 3366 c.831C>T c.(829-831)gcC>gcT p.A277A PLEKHG4_ENST00000379344.3_Silent_p.A277A|PLEKHG4_ENST00000450733.1_Silent_p.A196A|PLEKHG4_ENST00000427155.2_Silent_p.A277A NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 277 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) CCCCAGGGGCCGTGTACCAGG 0.602000 16 18 0 0 1 0 0 DCBLD2 131566 broad.mit.edu 37 3 98538221 98538221 + Silent SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr3:98538221C>T ENST00000326840.6 - 8 1274 c.912G>A c.(910-912)gcG>gcA p.A304A DCBLD2_ENST00000326857.9_Silent_p.A304A NM_080927.3 NP_563615.3 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 304 F5/8 type C. cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing cell surface|integral to plasma membrane breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2) 25 TTTGAGGATCCGCGATCACAC 0.443000 11 73 0 0 1 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24254856 24254856 + Missense_Mutation SNP G G A TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr8:24254856G>A ENST00000538205.1 + 7 824 c.277G>A c.(277-279)Gtc>Atc p.V93I ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.V93I|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.V172I|RP11-624C23.1_ENST00000523578.1_RNA NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 172 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) AGAACATGCCGTCTTTACATC 0.433000 76 168 0 0 1 0 0 FCRLA 84824 broad.mit.edu 37 1 161680622 161680622 + Missense_Mutation SNP A A G TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr1:161680622A>G ENST00000540926.1 + 3 463 c.170A>G c.(169-171)gAc>gGc p.D57G FCRLA_ENST00000367953.3_Missense_Mutation_p.D57G|FCRLA_ENST00000236938.6_Missense_Mutation_p.D68G|FCRLA_ENST00000309691.6_Missense_Mutation_p.D51G|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000546024.1_Missense_Mutation_p.D68G|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000367949.2_Missense_Mutation_p.D68G|FCRLA_ENST00000367950.1_Missense_Mutation_p.D28G|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000349527.4_Missense_Mutation_p.D51G|FCRLA_ENST00000367959.2_Missense_Mutation_p.D74G|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Intron Q7L513 FCRLA_HUMAN Fc receptor-like A 51 cell differentiation cytoplasm|extracellular region breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) ACGGAGGATGACTTGACTGAT 0.572000 28 38 0 0 1 0 0 NKD1 85407 broad.mit.edu 37 16 50667411 50667411 + Missense_Mutation SNP G G C TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr16:50667411G>C ENST00000268459.3 + 10 1356 c.1132G>C c.(1132-1134)Gtg>Ctg p.V378L NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 378 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) CATCCCTGCGGTGTCCCCCTC 0.692000 4 24 0 0 1 0 0 CT47B1 643311 broad.mit.edu 37 X 120009317 120009317 + Missense_Mutation SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chrX:120009317C>T ENST00000371311.3 - 1 462 c.208G>A c.(208-210)Gca>Aca p.A70T NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 70 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 GCCAGGCCTGCCGCCTGCTCA 0.726000 6 33 0 0 1 0 0 GMFB 2764 broad.mit.edu 37 14 54948136 54948136 + Missense_Mutation SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr14:54948136C>T ENST00000358056.3 - 4 459 c.191G>A c.(190-192)cGa>cAa p.R64Q GMFB_ENST00000553566.1_5'UTR|GMFB_ENST00000554908.1_3'UTR NM_004124.2 NP_004115.1 P60983 GMFB_HUMAN glia maturation factor, beta 64 ADF-H. nervous system development|protein phosphorylation intracellular actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1) 8 TCGAGGTTGTCGTTCAGGTAG 0.353000 6 41 0 0 1 0 0 OR51I2 390064 broad.mit.edu 37 11 5474874 5474874 + Silent SNP G G A TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr11:5474874G>A ENST00000341449.2 + 1 237 c.156G>A c.(154-156)gaG>gaA p.E52E HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCGAGTGGAGCCCAGCCTCC 0.572000 42 20 0 0 1 0 0 RIN3 79890 broad.mit.edu 37 14 93043785 93043785 + Silent SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr14:93043785C>T ENST00000216487.7 + 3 489 c.330C>T c.(328-330)gcC>gcT p.A110A RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 110 SH2. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) AAAGCTCGGCCGAGGTGCTCG 0.527000 26 217 0 0 1 0 0 SPRY3 10251 broad.mit.edu 37 X 155004050 155004050 + Missense_Mutation SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chrX:155004050C>T ENST00000302805.2 + 2 948 c.517C>T c.(517-519)Cgc>Tgc p.R173C NM_005840.1 NP_005831.1 O43610 SPY3_HUMAN sprouty homolog 3 (Drosophila) 173 Cys-rich.|SPR. multicellular organismal development|regulation of signal transduction cytoplasm|membrane all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GTGCAACCAGCGCTGCCTTTG 0.582000 15 180 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198949350 198949350 + Missense_Mutation SNP G G A TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr2:198949350G>A ENST00000428675.1 + 2 1507 c.1109G>A c.(1108-1110)gGg>gAg p.G370E PLCL1_ENST00000437704.2_Missense_Mutation_p.G272E NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 370 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) CGTCAAAAAGGGTTTCTTGCA 0.413000 8 153 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71389822 71389822 + Missense_Mutation SNP G G A rs147343958 TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr17:71389822G>A ENST00000392650.3 - 27 3775 c.3775C>T c.(3775-3777)Cgc>Tgc p.R1259C SDK2_ENST00000388726.3_Missense_Mutation_p.R1259C NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1259 Fibronectin type-III 7. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TGGGCACTGCGAGACGAGTTG 0.627000 9 42 0 0 1 0 0 BRF1 2972 broad.mit.edu 37 14 105707730 105707730 + Missense_Mutation SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr14:105707730C>T ENST00000546474.1 - 6 15525 c.566G>A c.(565-567)cGc>cAc p.R189H BRF1_ENST00000379932.4_5'UTR|BRF1_ENST00000446501.2_Intron|BRF1_ENST00000392557.4_5'UTR|BRF1_ENST00000440513.3_Missense_Mutation_p.R74H|BRF1_ENST00000327359.3_Missense_Mutation_p.R74H|BRF1_ENST00000379937.2_Missense_Mutation_p.R162H|BRF1_ENST00000551787.1_5'UTR NM_001242787.1|NM_001519.3 NP_001229716.1|NP_001510.2 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit 189 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) GTGCGCAAAGCGTGGAATATA 0.627000 23 19 0 0 1 0 0 TEX13B 56156 broad.mit.edu 37 X 107225292 107225292 + Silent SNP G G A TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chrX:107225292G>A ENST00000302917.1 - 2 158 c.66C>T c.(64-66)atC>atT p.I22I NM_031273.2 NP_112563.1 Q9BXU2 TX13B_HUMAN testis expressed 13B 22 breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 CCATTTTCTCGATGATGAAGG 0.562000 7 55 0 0 1 0 0 CACNG8 59283 broad.mit.edu 37 19 54483236 54483236 + Silent SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr19:54483236C>T ENST00000270458.2 + 3 586 c.483C>T c.(481-483)ggC>ggT p.G161G NM_031895.5 NP_114101.4 Q8WXS5 CCG8_HUMAN calcium channel, voltage-dependent, gamma subunit 8 161 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) TCATTCTGGGCGCAGGGATCC 0.657000 4 20 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13864593 13864593 + Silent SNP G G A rs138157585 byFrequency TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr5:13864593G>A ENST00000265104.4 - 28 4613 c.4509C>T c.(4507-4509)acC>acT p.T1503T CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1503 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GACTGTGCCCGGTGAGGGTGG 0.458000 Kartagener syndrome 24 41 0 0 1 0 0 RNF113A 7737 broad.mit.edu 37 X 119005206 119005206 + Missense_Mutation SNP G G A TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chrX:119005206G>A ENST00000371442.2 - 1 585 c.371C>T c.(370-372)aCa>aTa p.T124I NM_006978.2 NP_008909.1 O15541 R113A_HUMAN ring finger protein 113A 124 nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6) 15 CTCTTTCTCTGTGTCCAGCTC 0.552000 11 316 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189932828 189932828 + Silent SNP A A T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr2:189932828A>T ENST00000374866.3 - 21 1588 c.1314T>A c.(1312-1314)ggT>ggA p.G438G NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 438 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GACCAGAGGTACCTGGAGAGC 0.532000 49 50 0 0 1 0 0 ARMCX5 64860 broad.mit.edu 37 X 101858254 101858254 + Silent SNP A A G rs148467545 TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chrX:101858254A>G ENST00000604957.1 + 1 3807 c.1185A>G c.(1183-1185)caA>caG p.Q395Q ARMCX5_ENST00000541409.1_Silent_p.Q395Q|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000537008.1_Silent_p.Q395Q|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000246174.2_Silent_p.Q395Q|ARMCX5_ENST00000536530.1_Silent_p.Q395Q|ARMCX5_ENST00000372742.1_Silent_p.Q395Q NM_001168478.1 NP_001161950.1 Q6P1M9 ARMX5_HUMAN armadillo repeat containing, X-linked 5 395 binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 22 ATATACATCAAGTTTGTAAAG 0.418000 4 66 0 0 1 0 0 GTF3A 2971 broad.mit.edu 37 13 28008981 28008981 + Missense_Mutation SNP G G A TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr13:28008981G>A ENST00000381140.4 + 7 877 c.683G>A c.(682-684)cGc>cAc p.R228H GTF3A_ENST00000470606.1_3'UTR NM_002097.2 NP_002088.2 Q92664 TF3A_HUMAN general transcription factor IIIA 228 regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter nucleoplasm DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|lung(1) 2 Lung SC(185;0.0156) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158) ACATTTAAACGCAAAGATTAC 0.388000 3 37 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130410972 130410972 + Missense_Mutation SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chrX:130410972C>T ENST00000370904.1 - 20 3432 c.2522G>A c.(2521-2523)cGa>cAa p.R841Q IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Missense_Mutation_p.R855Q|IGSF1_ENST00000370910.1_Missense_Mutation_p.R841Q|IGSF1_ENST00000361420.3_Missense_Mutation_p.R850Q Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 850 Ig-like C2-type 8. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GTCATAATATCGGCAGCTGTA 0.557000 34 204 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114193780 114193780 + Nonsense_Mutation SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr1:114193780C>T ENST00000369615.1 + 14 2454 c.2392C>T c.(2392-2394)Cga>Tga p.R798* MAGI3_ENST00000369611.4_Nonsense_Mutation_p.R798*|MAGI3_ENST00000307546.9_Nonsense_Mutation_p.R798*|MAGI3_ENST00000369617.4_Nonsense_Mutation_p.R823* NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 823 Interaction with BAI1.|PDZ 4. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AACTGCTGCTCGAAATGGCCA 0.428000 9 56 0 0 1 0 0 SLC16A9 220963 broad.mit.edu 37 10 61412622 61412622 + Silent SNP G G A TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr10:61412622G>A ENST00000395348.3 - 6 2074 c.1438C>T c.(1438-1440)Ctg>Ttg p.L480L SLC16A9_ENST00000395347.1_Silent_p.L480L NM_194298.2 NP_919274.1 Q7RTY1 MOT9_HUMAN solute carrier family 16, member 9 480 urate metabolic process integral to membrane|plasma membrane symporter activity kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 AAGGCTGCCAGCAGCAGAATA 0.443000 5 122 0 0 1 0 0 NOG 9241 broad.mit.edu 37 17 54671609 54671609 + Missense_Mutation SNP G G T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr17:54671609G>T ENST00000332822.4 + 1 550 c.25G>T c.(25-27)Gtc>Ttc p.V9F NM_005450.4 NP_005441.1 Q13253 NOGG_HUMAN noggin 9 BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing extracellular space cytokine binding|protein homodimerization activity ovary(1) 1 Breast(9;5.24e-08) CAGCCTAGGGGTCACCCTCTA 0.761000 9 14 0.000274275 0.000280439 1 1 0 GGT3P 2679 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 5 22 0 0 1 0 0 PTPRM 5797 broad.mit.edu 37 18 8379271 8379271 + Missense_Mutation SNP G G A TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr18:8379271G>A ENST00000332175.8 + 26 4717 c.3680G>A c.(3679-3681)cGc>cAc p.R1227H PTPRM_ENST00000444013.1_Missense_Mutation_p.R1014H|PTPRM_ENST00000400053.4_Missense_Mutation_p.R1165H|PTPRM_ENST00000400060.4_Missense_Mutation_p.R1241H|PTPRM_ENST00000580170.1_Missense_Mutation_p.R1240H NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 1227 Tyrosine-protein phosphatase 2. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) CCCCCAGACCGCTGCCTGCCC 0.607000 17 80 0 0 1 0 0 RAPH1 65059 broad.mit.edu 37 2 204305714 204305714 + Silent SNP A A G TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr2:204305714A>G ENST00000319170.5 - 14 2498 c.2199T>C c.(2197-2199)tgT>tgC p.C733C RAPH1_ENST00000374493.3_Silent_p.C785C|RAPH1_ENST00000457812.1_Intron NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 733 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GGGATGGGGCACACGGTGCAG 0.622000 8 80 0 0 1 0 0 SPDYC 387778 broad.mit.edu 37 11 64939779 64939779 + Silent SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr11:64939779C>T ENST00000377185.2 + 4 403 c.321C>T c.(319-321)acC>acT p.T107T NM_001008778.1 NP_001008778.1 Q5MJ68 SPDYC_HUMAN speedy/RINGO cell cycle regulator family member C 107 Speedy/Ringo box; Required for CDK- binding (By similarity). cell cycle nucleus protein kinase binding breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1) 16 GCGAGTATACCCACAGCAGCC 0.597000 40 143 0 0 1 0 0 CPSF7 79869 broad.mit.edu 37 11 61183738 61183738 + Silent SNP G G A TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr11:61183738G>A ENST00000340437.4 - 6 1013 c.933C>T c.(931-933)ccC>ccT p.P311P CPSF7_ENST00000448745.1_Silent_p.P259P|CPSF7_ENST00000439958.3_Silent_p.P259P|CPSF7_ENST00000394888.4_Silent_p.P268P NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 268 Pro-rich. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 GAGGAGGTGGGGGCATGAGAT 0.607000 38 19 0 0 1 0 0 ISOC1 51015 broad.mit.edu 37 5 128430636 128430636 + Silent SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr5:128430636C>T ENST00000173527.5 + 1 193 c.177C>T c.(175-177)ggC>ggT p.G59G NM_016048.2 NP_057132.2 Q96CN7 ISOC1_HUMAN isochorismatase domain containing 1 59 peroxisome catalytic activity kidney(2)|lung(7) 9 all_cancers(142;0.0813)|Prostate(80;0.0865) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164) GCCTGTACGGCGACCAGATCG 0.632000 13 14 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2154548 2154548 + Silent SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr16:2154548C>T ENST00000262304.4 - 22 8320 c.8112G>A c.(8110-8112)gcG>gcA p.A2704A PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Silent_p.A2704A NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 2704 REJ. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TCACGGTGCCCGCGGTGGTCT 0.692000 4 5 0 0 1 0 0 C7orf61 402573 broad.mit.edu 37 7 100061023 100061023 + Missense_Mutation SNP G G A TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr7:100061023G>A ENST00000332375.3 - 2 595 c.350C>T c.(349-351)tCt>tTt p.S117F TSC22D4_ENST00000496728.1_5'UTR NM_001004323.1 NP_001004323.1 Q8IZ16 CG061_HUMAN chromosome 7 open reading frame 61 117 central_nervous_system(1)|endometrium(1)|prostate(1)|skin(1) 4 CTGCAGGGCAGAGACCATGAG 0.627000 50 71 0 0 1 0 0 STAT3 6774 broad.mit.edu 37 17 40486033 40486033 + Missense_Mutation SNP G G A TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr17:40486033G>A ENST00000264657.5 - 9 1144 c.832C>T c.(832-834)Cgt>Tgt p.R278C STAT3_ENST00000404395.3_Missense_Mutation_p.R278C|STAT3_ENST00000389272.3_Missense_Mutation_p.R180C|STAT3_ENST00000588969.1_Missense_Mutation_p.R278C|STAT3_ENST00000585517.1_Missense_Mutation_p.R278C NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 278 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) ATTTGTTGACGGGTCTGAAGT 0.443000 Hyperimmunoglobulin E Recurrent Infection Syndrome 28 43 0 0 1 0 0 TAF6L 10629 broad.mit.edu 37 11 62549756 62549756 + Missense_Mutation SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr11:62549756C>T ENST00000294168.3 + 8 979 c.778C>T c.(778-780)Cac>Tac p.H260Y TMEM223_ENST00000527073.1_Intron NM_006473.3 NP_006464.1 Q9Y6J9 TAF6L_HUMAN TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 260 chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent histone deacetylase complex|STAGA complex DNA binding|protein binding|transcription coactivator activity endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1) 16 CCTGAATGACCACTGGACTCT 0.627000 35 51 0 0 1 0 0 CELF5 60680 broad.mit.edu 37 19 3281254 3281254 + Missense_Mutation SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr19:3281254C>T ENST00000541430.2 + 6 697 c.661C>T c.(661-663)Cgg>Tgg p.R221W CELF5_ENST00000292672.2_Missense_Mutation_p.R221W NM_001172673.1 NP_001166144.1 Q8N6W0 CELF5_HUMAN CUGBP, Elav-like family member 5 221 mRNA processing cytoplasm|nucleus nucleotide binding|RNA binding kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1) 13 GCGGACGCTCCGGCGCATGCA 0.682000 7 107 0 0 1 0 0 PFKM 5213 broad.mit.edu 37 12 48526697 48526697 + Missense_Mutation SNP G G A TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr12:48526697G>A ENST00000340802.6 + 7 721 c.497G>A c.(496-498)cGa>cAa p.R166Q PFKM_ENST00000551804.1_Missense_Mutation_p.R95Q|PFKM_ENST00000547587.1_Missense_Mutation_p.R95Q|PFKM_ENST00000359794.5_Missense_Mutation_p.R95Q|PFKM_ENST00000312352.7_Missense_Mutation_p.R95Q|PFKM_ENST00000395233.2_Missense_Mutation_p.R95Q NM_001166686.1 NP_001160158.1 P08237 K6PF_HUMAN phosphofructokinase, muscle 95 fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 TTTCGGGAACGAGAAGGACGA 0.572000 8 33 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55143426 55143426 + Silent SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr19:55143426C>T ENST00000396331.1 + 6 756 c.399C>T c.(397-399)ccC>ccT p.P133P LILRB1_ENST00000396321.2_Silent_p.P133P|LILRB1_ENST00000418536.2_Silent_p.P133P|LILRB1_ENST00000448689.1_Silent_p.P133P|LILRB1_ENST00000396327.3_Silent_p.P133P|LILRB1_ENST00000396315.1_Silent_p.P133P|LILRB1_ENST00000396317.1_Silent_p.P133P|LILRB1_ENST00000434867.2_Silent_p.P133P|LILRB1_ENST00000427581.2_Silent_p.P169P|LILRB1_ENST00000324602.7_Silent_p.P133P|LILRB1_ENST00000396332.4_Silent_p.P133P NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 133 Ig-like C2-type 2. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) AGCCCAGCCCCGTGGTGAACT 0.552000 HNSCC(37;0.09) 7 115 0 0 1 0 0 ZNF280A 129025 broad.mit.edu 37 22 22869676 22869676 + Silent SNP C C G TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr22:22869676C>G ENST00000302097.3 - 2 531 c.279G>C c.(277-279)gtG>gtC p.V93V NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 93 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) CCATAGAGGTCACATGATTTG 0.468000 47 96 0 0 1 0 0 CDC123 8872 broad.mit.edu 37 10 12277056 12277056 + Nonsense_Mutation SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr10:12277056C>T ENST00000281141.4 + 8 779 c.499C>T c.(499-501)Cga>Tga p.R167* CDC123_ENST00000378900.2_Nonsense_Mutation_p.R167*|CDC123_ENST00000455773.3_3'UTR NM_006023.2 NP_006014.2 O75794 CD123_HUMAN cell division cycle 123 167 cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle cytoplasm central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 GCTCGTTCTCCGAAAATGGTG 0.343000 38 72 0 0 1 0 0 PLEKHG7 440107 broad.mit.edu 37 12 93162805 93162805 + Nonsense_Mutation SNP T T G TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr12:93162805T>G ENST00000344636.3 + 11 1165 c.981T>G c.(979-981)taT>taG p.Y327* NM_001004330.2 NP_001004330.1 Q6ZR37 PKHG7_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 7 327 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1) 17 AAAACAGATATCGACAGTGTA 0.313000 9 17 0 0 1 0 0 GIGYF1 64599 broad.mit.edu 37 7 100279950 100279950 + Missense_Mutation SNP A A G TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr7:100279950A>G ENST00000275732.5 - 21 3965 c.2756T>C c.(2755-2757)cTg>cCg p.L919P NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 919 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CCCACCGTCCAGGCTGCCCGT 0.697000 20 32 0 0 1 0 0 PRSS8 5652 broad.mit.edu 37 16 31144141 31144141 + Missense_Mutation SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr16:31144141C>T ENST00000317508.6 - 4 663 c.400G>A c.(400-402)Gac>Aac p.D134N PRSS8_ENST00000568261.1_Missense_Mutation_p.D80N NM_002773.3 NP_002764.1 Q16651 PRSS8_HUMAN protease, serine, 8 134 Peptidase S1. proteolysis extracellular space|integral to membrane|plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1) 8 AGTGCAATGTCGCCCTGGGAG 0.647000 85 156 0 0 1 0 0 H1FNT 341567 broad.mit.edu 37 12 48723402 48723402 + Missense_Mutation SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr12:48723402C>T ENST00000335017.1 + 1 640 c.328C>T c.(328-330)Cgg>Tgg p.R110W NM_181788.1 NP_861453.1 Q75WM6 H1FNT_HUMAN H1 histone family, member N, testis-specific 110 chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation nuclear chromatin ATP binding|DNA binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 13 CACGCTCCTCCGGGTCAGCGG 0.701000 3 17 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16956574 16956574 + RNA SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr1:16956574C>T ENST00000412962.1 - 0 294 CTCTCGCTGTCGCTAAGCTGC 0.647000 7 59 0 0 1 0 0 EFTUD1 79631 broad.mit.edu 37 15 82443855 82443855 + Silent SNP C C G TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr15:82443855C>G ENST00000268206.7 - 18 3108 c.2940G>C c.(2938-2940)ctG>ctC p.L980L EFTUD1_ENST00000359445.3_Silent_p.L929L NM_024580.5 NP_078856.4 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain containing 1 980 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 TAGCTGCCATCAGGCGCTGAG 0.463000 69 84 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33643520 33643520 + Missense_Mutation SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr6:33643520C>T ENST00000374316.5 + 26 4229 c.3169C>T c.(3169-3171)Cgc>Tgc p.R1057C ITPR3_ENST00000605930.1_Missense_Mutation_p.R1057C Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 1057 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 CATGTTCCTGCGCGTGCTCAT 0.647000 4 40 0 0 1 0 0 RUFY1 80230 broad.mit.edu 37 5 179004076 179004076 + Splice_Site SNP G G C TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr5:179004076G>C ENST00000377001.2 + 6 829 c.828_splice c.e6-1 p.V277_splice RUFY1_ENST00000437570.2_Splice_Site_p.V169_splice|RUFY1_ENST00000393438.2_Splice_Site_p.V169_splice|RUFY1_ENST00000319449.4_Splice_Site_p.V277_splice Q96T51 RUFY1_HUMAN RUN and FYVE domain containing 1 277 endocytosis|protein transport early endosome membrane lipid binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195) all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTTCGTTTAGGTTGGAGTAAT 0.308000 HNSCC(44;0.11) 25 51 0 0 1 0 0 ZNF792 126375 broad.mit.edu 37 19 35451806 35451806 + Silent SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr19:35451806C>T ENST00000404801.1 - 2 512 c.126G>A c.(124-126)gtG>gtA p.V42V NM_175872.4 NP_787068.3 Q3KQV3 ZN792_HUMAN zinc finger protein 792 42 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) TTTCCAGCATCACATCGCAGT 0.572000 30 71 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169111349 169111349 + Silent SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr5:169111349C>T ENST00000256935.8 + 8 836 c.756C>T c.(754-756)gtC>gtT p.V252V NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 252 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGCAAACGGTCATAAGGTAGG 0.488000 15 92 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 7 134 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3614338 3614338 + RNA SNP G G A TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr16:3614338G>A ENST00000301749.7 - 0 1005 NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GCTCCCCGACGTGCGGGAAGA 0.647000 4 23 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169500137 169500137 + Missense_Mutation SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr1:169500137C>T ENST00000367796.3 - 15 5311 c.5110G>A c.(5110-5112)Gct>Act p.A1704T F5_ENST00000367797.3_Missense_Mutation_p.A1699T P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1699 F5/8 type A 3.|Plastocyanin-like 5. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GGCTGAACAGCATTATCTTCC 0.473000 26 166 0 0 1 0 0 INPPL1 3636 broad.mit.edu 37 11 71943719 71943719 + Missense_Mutation SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr11:71943719C>T ENST00000541756.1 + 15 1966 c.1036C>T c.(1036-1038)Cgg>Tgg p.R346W INPPL1_ENST00000538751.1_Missense_Mutation_p.R346W|INPPL1_ENST00000298229.2_Missense_Mutation_p.R588W O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 588 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 GCTGGGCGACCGGCAGCTCAA 0.602000 11 64 0 0 1 0 0 HTR1B 3351 broad.mit.edu 37 6 78172530 78172530 + Silent SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr6:78172530C>T ENST00000369947.2 - 1 960 c.591G>A c.(589-591)tcG>tcA p.S197S NM_000863.1 NP_000854.1 P28222 5HT1B_HUMAN 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled 197 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission integral to plasma membrane protein binding|serotonin receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 25 all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332) BRCA - Breast invasive adenocarcinoma(397;0.205) Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315) CCACGCATTCCGACACCTCCT 0.607000 4 71 0 0 1 0 0 KIAA2026 158358 broad.mit.edu 37 9 5969242 5969242 + Missense_Mutation SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr9:5969242C>T ENST00000399933.3 - 3 988 c.989G>A c.(988-990)cGt>cAt p.R330H KIAA2026_ENST00000381461.2_Missense_Mutation_p.R330H NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 330 p.R330H(1) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) CAGAAGACAACGTTCCAATTC 0.398000 20 37 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89390120 89390120 + Missense_Mutation SNP G G T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr3:89390120G>T ENST00000336596.2 + 4 1094 c.869G>T c.(868-870)tGc>tTc p.C290F EPHA3_ENST00000494014.1_Missense_Mutation_p.C290F|EPHA3_ENST00000452448.2_Missense_Mutation_p.C290F NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 290 Cys-rich. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TGTGCTAAGTGCCCGCCTCAC 0.423000 TSP Lung(6;0.00050) 9 142 0.0581538 0.0581538 1 1 0 LOC100294341 100294341 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 4 58 0 0 1 0 0 ZKSCAN3 80317 broad.mit.edu 37 6 28333342 28333342 + Silent SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr6:28333342C>T ENST00000377255.3 + 7 1194 c.897C>T c.(895-897)ggC>ggT p.G299G ZKSCAN3_ENST00000341464.5_Silent_p.G151G|ZKSCAN3_ENST00000252211.2_Silent_p.G299G NM_001242894.1 NP_001229823.1 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 299 positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1) 21 AACAGGAGGGCAGGCTACAAA 0.502000 5 83 0 0 1 0 0 CCDC113 29070 broad.mit.edu 37 16 58312518 58312518 + Missense_Mutation SNP G G A TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr16:58312518G>A ENST00000219299.4 + 8 1103 c.1024G>A c.(1024-1026)Gaa>Aaa p.E342K CCDC113_ENST00000443128.2_Missense_Mutation_p.E288K NM_014157.3 NP_054876.2 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 342 protein complex large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1) 12 CAGGATGTGGGAAAGGAAAGT 0.527000 25 31 0 0 1 0 0 GRHPR 9380 broad.mit.edu 37 9 37428545 37428545 + Missense_Mutation SNP G G A TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr9:37428545G>A ENST00000607784.1 + 5 474 c.469G>A c.(469-471)Ggc>Agc p.G157S GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000318158.6_Missense_Mutation_p.G157S Q9UBQ7 GRHPR_HUMAN glyoxylate reductase/hydroxypyruvate reductase 157 cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process peroxisomal matrix glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GBM - Glioblastoma multiforme(29;0.00687) GAGCACTGTCGGCATCATCGG 0.667000 16 154 0 0 1 0 0 OPA1 4976 broad.mit.edu 37 3 193332546 193332546 + Missense_Mutation SNP G G A TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr3:193332546G>A ENST00000361510.2 + 2 301 c.67G>A c.(67-69)Gga>Aga p.G23R OPA1_ENST00000361908.3_Missense_Mutation_p.G23R|OPA1_ENST00000361715.2_Missense_Mutation_p.G23R|OPA1_ENST00000361150.2_Missense_Mutation_p.G23R|OPA1_ENST00000361828.2_Missense_Mutation_p.G23R|OPA1_ENST00000392438.3_Missense_Mutation_p.G23R NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 23 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) ACACAGCTCTGGAATAAAAGG 0.368000 9 182 0 0 1 0 0 TPD52L2 7165 broad.mit.edu 37 20 62518930 62518930 + Missense_Mutation SNP C C T TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr20:62518930C>T ENST00000217121.5 + 7 589 c.517C>T c.(517-519)Cgc>Tgc p.R173C TPD52L2_ENST00000346249.4_Intron|TPD52L2_ENST00000351424.4_Missense_Mutation_p.R153C|TPD52L2_ENST00000369927.4_Intron|TPD52L2_ENST00000352482.4_Missense_Mutation_p.R164C|TPD52L2_ENST00000348257.5_Intron|TPD52L2_ENST00000358548.4_Missense_Mutation_p.R144C NM_199360.2 NP_955392.1 O43399 TPD54_HUMAN tumor protein D52-like 2 157 regulation of cell proliferation perinuclear region of cytoplasm protein binding|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09) CTACTCCATCCGCCACTCAAT 0.582000 16 193 0 0 1 0 0 PIK3R1 5295 broad.mit.edu 37 5 67591132 67591134 + In_Frame_Del DEL GAC GAC - TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr5:67591132_67591134delGAC ENST00000521381.1 + 13 2341_2343 c.1725_1727delGAC c.(1723-1728)aag>aa p.KT575del PIK3R1_ENST00000336483.5_In_Frame_Del_p.KT305del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.KT575del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.KT575del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.KT212del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.KT575del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.KT275del NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 575 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.T576del(3)|p.R574_T576del(2)|p.L570_D578del(1)|p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) AGCTGAGAAAGACGAGAGACCAA 0.374 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 11 134 --- --- --- --- FLNC 2318 broad.mit.edu 37 7 128484980 128484981 + Frame_Shift_Del DEL AC AC - TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr7:128484980_128484981delAC ENST00000325888.8 + 21 3722_3723 c.3461_3462delAC c.(3460-3462)gfs p.D1154fs FLNC_ENST00000346177.6_Frame_Shift_Del_p.D1154fs NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1154 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CCTGTGTTTGACCCGAGCAAGG 0.649 26 29 --- --- --- --- ACTN3 89 broad.mit.edu 37 11 66321927 66321928 + RNA INS - - A rs141435934 TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr11:66321927_66321928insA ENST00000513398.1 + 0 566 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 gaccctgtctcaaaaaaaaaaa 0.540 2 4 --- --- --- --- SLC39A9 55334 broad.mit.edu 37 14 69925126 69925135 + Frame_Shift_Del DEL TGCTTTTCTC TGCTTTTCTC - TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr14:69925126_69925135delTGCTTTTCTC ENST00000031146.4 + 6 1220_1229 c.542_551delTGCTTTTCTC c.(541-552)atfs p.MLFS181fs SLC39A9_ENST00000336643.5_Frame_Shift_Del_p.MLFS247fs|SLC39A9_ENST00000556605.1_Intron|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000557046.1_Frame_Shift_Del_p.MLFS224fs Q9NUM3 S39A9_HUMAN solute carrier family 39, member 9 247 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1) 14 all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373) GGAGTGGCCATGCTTTTCTCTGCCGGGACA 0.519 62 195 --- --- --- --- EPX 8288 broad.mit.edu 37 17 56277000 56277000 + Frame_Shift_Del DEL G G - TCGA-CN-A49C-01A-11D-A24D-08 TCGA-CN-A49C-10B-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa6422-da7f-4d3a-ae02-a3907318b005 23e97f5d-9633-46e8-a0fd-af3d3ca5f67a g.chr17:56277000delG ENST00000225371.5 + 9 1492 c.1382delG c.(1381-1383)cgfs p.R461fs NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 461 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 GTGGACCCACGGGTGGCCAAT 0.617 29 45 --- --- --- ---