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 TNFRSF4 7293 broad.mit.edu 37 1 1147004 1147004 + Silent SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr1:1147004C>T uc001adf.3 - 4 1453 c.855G>A c.(853-855)ggG>ggA p.G285G TNFRSF4_uc001ade.3_Splice_Site_p.G255_splice P43489 TNR4_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA. 255 immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation integral to plasma membrane tumor necrosis factor receptor activity large_intestine(1)|lung(2)|urinary_tract(1) 4 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AACTGCCTCCCCCTGGGGAGG 0.677 PABPC4 8761 broad.mit.edu 37 1 40030160 40030160 + Missense_Mutation SNP C C T rs139185037 TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr1:40030160C>T uc001cdl.2 - 9 2286 c.1388G>A c.(1387-1389)cGc>cAc p.R463H PABPC4_uc010oiv.1_Missense_Mutation_p.R463H|PABPC4_uc001cdm.2_Missense_Mutation_p.R463H NM_001135653 NP_001129125 Q13310 PABP4_HUMAN Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA. 463 blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) AGCCAGATGGCGAAGAGTTGG 0.542 CASQ1 844 broad.mit.edu 37 1 160162639 160162639 + Silent SNP A A T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr1:160162639A>T uc010pja.2 + 1 584 c.327A>T c.(325-327)gtA>gtT p.V109V NM_001231 NP_001222 P31415 CASQ1_HUMAN Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA. 109 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCGGGCTGGTAGACTCTGAGA 0.522 OREG0013927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TNFSF18 8995 broad.mit.edu 37 1 173010533 173010533 + Silent SNP G G A TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr1:173010533G>A uc001giu.2 - 2 575 c.574C>T c.(574-576)Cta>Tta p.L192L NM_005092 NP_005083 Q9UNG2 TNF18_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA. 192 anti-apoptosis|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 9 GGATTTGCTAGTAAAATGATA 0.418 LHX9 56956 broad.mit.edu 37 1 197887088 197887088 + Silent SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr1:197887088C>T uc001guk.1 + 0 572 c.135C>T c.(133-135)gcC>gcT p.A45A LHX9_uc009wzc.1_Non-coding_Transcript|LHX9_uc001gui.1_Silent_p.A36A NM_020204 NP_064589 Q9NQ69 LHX9_HUMAN Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA. 45 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35 AGACTGAGGCCCGTCTGGCCA 0.662 NEBL 10529 broad.mit.edu 37 10 21112168 21112168 + Missense_Mutation SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr10:21112168C>T uc001iqi.3 - 18 2328 c.1931G>A c.(1930-1932)aGa>aAa p.R644K NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN Homo sapiens nebulette (NEBL), transcript variant 1, mRNA. 644 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TTCTTTAACTCTCTTTAGTTC 0.284 RBP3 5949 broad.mit.edu 37 10 48390589 48390589 + Missense_Mutation SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr10:48390589C>T uc001jez.3 - 0 403 c.289G>A c.(289-291)Gag>Aag p.E97K NM_002900 NP_002891 P10745 RET3_HUMAN Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA. 97 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GGGGGAGGCTCGGGGGTGCTG 0.627 ADO 84890 broad.mit.edu 37 10 64564912 64564912 + Silent SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr10:64564912C>T uc001jmg.3 + 0 397 c.93C>T c.(91-93)tcC>tcT p.S31S NM_032804 NP_116193 Q96SZ5 AEDO_HUMAN Homo sapiens 2-aminoethanethiol (cysteamine) dioxygenase (ADO), mRNA. 31 cysteamine dioxygenase activity|metal ion binding lung(2) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) GCGGCGCTTCCGATCGCGACG 0.711 NT5C2 22978 broad.mit.edu 37 10 104934623 104934623 + Silent SNP G G A TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr10:104934623G>A uc001kwo.3 - 2 286 c.93C>T c.(91-93)gcC>gcT p.A31A NT5C2_uc001kwq.3_Silent_p.A31A|NT5C2_uc001kwp.3_Intron NM_012229 NP_036361 P49902 5NTC_HUMAN Homo sapiens 5'-nucleotidase, cytosolic II (NT5C2), transcript variant 1, mRNA. 31 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1) 16 all_hematologic(284;0.176)|Colorectal(252;0.178) Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159) Adenosine triphosphate(DB00171)|Ribavirin(DB00811) ACCGATGATAGGCTTCTCGAC 0.383 SLC22A25 387601 broad.mit.edu 37 11 62931319 62931319 + Missense_Mutation SNP G G C TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr11:62931319G>C uc001nwr.1 - 8 1621 c.1621C>G c.(1621-1623)Cct>Gct p.P541A SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript NM_199352 NP_955384 Q6T423 S22AP_HUMAN Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA. 541 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 CTCCTCTGAGGGGCAGCTAGG 0.507 LRRC32 2615 broad.mit.edu 37 11 76371933 76371933 + Missense_Mutation SNP G G A rs147861179 TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr11:76371933G>A uc001oxq.4 - 2 947 c.704C>T c.(703-705)aCg>aTg p.T235M LRRC32_uc001oxr.4_Missense_Mutation_p.T235M|LRRC32_uc010rsf.2_Missense_Mutation_p.T235M NM_005512 NP_005503 Q14392 LRC32_HUMAN Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA. 235 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 CTGGGAGGCCGTCTGAAAGGC 0.617 PIK3C2G 5288 broad.mit.edu 37 12 18544153 18544153 + Missense_Mutation SNP T T C TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr12:18544153T>C uc001rdt.3 + 13 2086 c.1970T>C c.(1969-1971)aTt>aCt p.I657T PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.I698T|PIK3C2G_uc010sic.2_Missense_Mutation_p.I476T NM_004570 NP_004561 O75747 P3C2G_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA. 657 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) ATAAAACATATTGCCAGACTT 0.383 KSR2 283455 broad.mit.edu 37 12 117962680 117962680 + Silent SNP C C T rs140960062 by1000genomes TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr12:117962680C>T uc001two.2 - 13 2164 c.2109G>A c.(2107-2109)ccG>ccA p.P703P NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 732 Protein kinase. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCAGGTGAGGCGGGCTCATGC 0.557 TMEM132D 121256 broad.mit.edu 37 12 130184667 130184667 + Missense_Mutation SNP G G A rs146143180 TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr12:130184667G>A uc009zyl.1 - 1 984 c.656C>T c.(655-657)cCg>cTg p.P219L NM_133448 NP_597705 Q14C87 T132D_HUMAN Homo sapiens transmembrane protein 132D (TMEM132D), mRNA. 219 integral to membrane p.P219L(4)|p.P219P(1)|p.P219T(1)|p.Q218H(1) NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GGTCCCCTCCGGCTGGTCCAC 0.682 SFSWAP 6433 broad.mit.edu 37 12 132249171 132249171 + Missense_Mutation SNP T T A TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr12:132249171T>A uc001uja.1 + 11 2031 c.1891T>A c.(1891-1893)Tgt>Agt p.C631S SFSWAP_uc010tbn.1_Missense_Mutation_p.C631S|SFSWAP_uc001ujb.1_Missense_Mutation_p.C424S NM_004592 NP_004583 Q12872 SFSWA_HUMAN Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA. 631 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 TGCCCCACCCTGTGTAGTTGT 0.423 LRFN5 145581 broad.mit.edu 37 14 42356720 42356720 + Missense_Mutation SNP G G T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr14:42356720G>T uc001wvm.3 + 2 2090 c.892G>T c.(892-894)Gtc>Ttc p.V298F LRFN5_uc010ana.3_Missense_Mutation_p.V298F NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA. 298 Ig-like. integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TGAGATGAGAGTCCTGGAGGG 0.478 HNSCC(30;0.082) MOAP1 64112 broad.mit.edu 37 14 93650454 93650454 + Missense_Mutation SNP G G A TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr14:93650454G>A uc021saw.1 - 0 134 c.134C>T c.(133-135)cCc>cTc p.P45L MOAP1_uc001ybj.3_Missense_Mutation_p.P45L|C14orf109_uc001ybk.4_5'Flank|C14orf109_uc010auo.3_5'Flank|C14orf109_uc021sax.1_5'Flank NM_022151 NP_071434 Q96BY2 MOAP1_HUMAN Homo sapiens modulator of apoptosis 1 (MOAP1), mRNA. 45 activation of caspase activity|apoptotic nuclear change cytoplasm protein homodimerization activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 13 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204) ctcccccaagggagctaaacc 0.557 RBBP6 5930 broad.mit.edu 37 16 24581488 24581489 + Frame_Shift_Del DEL TT TT - TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr16:24581488_24581489delTT uc002dmh.3 + 16 4517_4518 c.3477_3478delTT c.(3475-3480)gattttfs p.D1159fs RBBP6_uc010vcb.1_Frame_Shift_Del_p.D1026fs|RBBP6_uc002dmi.3_Frame_Shift_Del_p.D1125fs|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Frame_Shift_Del_p.D992fs NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA. 1159 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) TAGATAAAGATTTTGAGTCTTC 0.342 IRX5 10265 broad.mit.edu 37 16 54967470 54967470 + Silent SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr16:54967470C>T uc002ehv.3 + 2 1137 c.1137C>T c.(1135-1137)gcC>gcT p.A379A IRX5_uc021tin.1_Silent_p.A378A|IRX5_uc002ehw.3_Silent_p.A313A NM_005853 NP_005844 P78411 IRX5_HUMAN Homo sapiens iroquois homeobox 5 (IRX5), transcript variant 1, mRNA. 379 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 CGTCGCCGGCCCCGGCGCCGT 0.721 CLEC3A 10143 broad.mit.edu 37 16 78064624 78064624 + Silent SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr16:78064624C>T uc002ffh.4 + 2 561 c.480C>T c.(478-480)aaC>aaT p.N160N CLEC3A_uc021tlr.1_Silent_p.N108N NM_005752 NP_005743 O75596 CLC3A_HUMAN Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA. 160 C-type lectin. skeletal system development extracellular region sugar binding NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 18 CACAGCCTAACGGTGGCAAGC 0.522 ACAP1 9744 broad.mit.edu 37 17 7253543 7253543 + Missense_Mutation SNP G G A TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr17:7253543G>A uc002ggd.2 + 19 2265 c.2059G>A c.(2059-2061)Gac>Aac p.D687N KCTD11_uc002gge.4_5'Flank NM_014716 NP_055531 Q15027 ACAP1_HUMAN Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA. 687 Required for interaction with GULP1. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 AGCCAACGCTGACATCGTCAC 0.682 TP53 7157 broad.mit.edu 37 17 7574003 7574003 + Nonsense_Mutation SNP G G A TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr17:7574003G>A uc002gim.2 - 9 1218 c.1024C>T c.(1024-1026)Cga>Tga p.R342* TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Intron|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.R210*|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.R342*|DL476313_uc021tpe.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 342 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R342*(132)|p.R342fs*3(17)|p.0?(8)|p.R342P(3)|p.R342_N345delRELN(2)|p.R342Q(2)|p.?(1)|p.F341fs*4(1)|p.F341C(1)|p.I332fs*5(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTCAGCTCTCGGAACATCTCG 0.557 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) TP53 7157 broad.mit.edu 37 17 7578476 7578476 + Missense_Mutation SNP G G A rs137852790 TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr17:7578476G>A uc002gim.2 - 4 648 c.454C>T c.(454-456)Ccg>Tcg p.P152S TP53_uc002gig.1_Missense_Mutation_p.P152S|TP53_uc002gih.3_Missense_Mutation_p.P152S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P20S|TP53_uc010cnf.1_Missense_Mutation_p.P20S|TP53_uc002gii.1_Missense_Mutation_p.P20S|TP53_uc010cni.1_Missense_Mutation_p.P152S|TP53_uc010cnh.1_Missense_Mutation_p.P152S|TP53_uc002gij.2_Missense_Mutation_p.P152S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.P59S|TP53_uc002gio.2_Missense_Mutation_p.P20S|TP53_uc010vug.2_Missense_Mutation_p.P113S NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 152 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P151S(66)|p.P152L(64)|p.P152S(44)|p.P151H(27)|p.P152fs*18(20)|p.P152T(14)|p.P151T(14)|p.P151P(12)|p.P152fs*29(10)|p.P152fs*14(10)|p.P151A(9)|p.0?(8)|p.P151L(7)|p.P151fs*30(7)|p.P151R(7)|p.P152R(6)|p.T150fs*16(6)|p.P152P(5)|p.?(5)|p.P152A(4)|p.P152fs*28(4)|p.P152Q(4)|p.P151_V173del23(2)|p.P152_P153del(2)|p.D148_T155delDSTPPPGT(2)|p.T150_P153delTPPP(2)|p.P152del(2)|p.Q144_G154del11(2)|p.P153fs*16(1)|p.P151del(1)|p.T57fs*16(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.T18fs*16(1)|p.T150_P151delTP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTGCCGGGCGGGGGTGTGGAA 0.607 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) PFAS 5198 broad.mit.edu 37 17 8170745 8170745 + Silent SNP G G A TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr17:8170745G>A uc002gkr.3 + 24 3372 c.3231G>A c.(3229-3231)cgG>cgA p.R1077R PFAS_uc010vuv.2_Silent_p.R653R|PFAS_uc002gks.3_Silent_p.R156R NM_012393 NP_036525 O15067 PUR4_HUMAN Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA. 1077 Glutamine amidotransferase type-1. 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) ATGGAGACCGGGAGATGGCCG 0.612 KRT13 3860 broad.mit.edu 37 17 39661389 39661389 + Silent SNP G G A TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr17:39661389G>A uc002hwu.1 - 0 477 c.414C>T c.(412-414)gaC>gaT p.D138D KRT13_uc002hwv.1_Silent_p.D138D|KRT13_uc010wfr.2_Silent_p.D31D|KRT13_uc010cxo.3_Silent_p.D138D|KRT13_uc021txk.1_Silent_p.D31D NM_153490 NP_705694 P13646 K1C13_HUMAN Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA. 138 Coil 1A.|Rod. epidermis development intermediate filament structural molecule activity p.R137H(1) NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 33 Breast(137;0.000286) TCAGGTGCCAGTCACGGATCT 0.602 FMNL1 752 broad.mit.edu 37 17 43320637 43320637 + Silent SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr17:43320637C>T uc002iin.3 + 16 2363 c.2163C>T c.(2161-2163)acC>acT p.T721T FMNL1_uc002iiq.3_Silent_p.T299T|FMNL1_uc010dag.3_Non-coding_Transcript|FMNL1_uc021tyj.1_Silent_p.T48T NM_005892 NP_005883 O95466 FMNL_HUMAN Homo sapiens formin-like 1 (FMNL1), mRNA. 721 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 TGGCCATCACCCTGCGGAAGG 0.642 RGS9 8787 broad.mit.edu 37 17 63193312 63193312 + Missense_Mutation SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr17:63193312C>T uc002jfe.3 + 12 1132 c.929C>T c.(928-930)cCc>cTc p.P310L RGS9_uc021ubw.1_Missense_Mutation_p.P307L|RGS9_uc010dem.3_Missense_Mutation_p.P307L|RGS9_uc002jfd.3_Missense_Mutation_p.P307L|RGS9_uc002jfg.3_Missense_Mutation_p.P81L NM_003835 NP_003826 O75916 RGS9_HUMAN Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA. 310 RGS. intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 ATCCGAGACCCCAAAGGTCGA 0.423 ICAM5 7087 broad.mit.edu 37 19 10405102 10405102 + Silent SNP C C A TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr19:10405102C>A uc002mnu.4 + 8 2081 c.2016C>A c.(2014-2016)acC>acA p.T672T ICAM5_uc002mnv.4_Silent_p.T547T NM_003259 NP_003250 Q9UMF0 ICAM5_HUMAN Homo sapiens intercellular adhesion molecule 5, telencephalin (ICAM5), mRNA. 672 Ig-like C2-type 8. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) ATGAATCTACCTGCCCAAGTC 0.692 HADHA 3030 broad.mit.edu 37 2 26457099 26457099 + Missense_Mutation SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr2:26457099C>T uc002rgy.3 - 4 569 c.439G>A c.(439-441)Gga>Aga p.G147R HADHA_uc010yks.2_Missense_Mutation_p.G60R|HADHA_uc010ykt.1_Missense_Mutation_p.G60R NM_000182 NP_000173 P40939 ECHA_HUMAN Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA. 147 fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1) 30 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) AGTCCTCCTCCCAGGCAGGAT 0.433 FAM123C 205147 broad.mit.edu 37 2 131520666 131520666 + Missense_Mutation SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr2:131520666C>T uc021voy.1 + 0 1021 c.1021C>T c.(1021-1023)Cgg>Tgg p.R341W FAM123C_uc002trw.2_Missense_Mutation_p.R341W|FAM123C_uc010fmv.2_Missense_Mutation_p.R341W|FAM123C_uc010fms.1_Missense_Mutation_p.R341W|FAM123C_uc010fmt.1_Missense_Mutation_p.R341W|FAM123C_uc010fmu.1_Missense_Mutation_p.R341W NM_152698 NP_689911 Q8N944 F123C_HUMAN Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA. 341 p.R341W(2) breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8) 73 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GGACCAATCCCGGCTGGACAC 0.667 PHOSPHO2 493911 broad.mit.edu 37 2 170558142 170558142 + Missense_Mutation SNP T T C TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr2:170558142T>C uc021vsh.1 + 3 979 c.661T>C c.(661-663)Tct>Cct p.S221P PHOSPHO2_uc021vsi.1_Missense_Mutation_p.S221P|PHOSPHO2_uc021vsj.1_Missense_Mutation_p.S221P|PHOSPHO2_uc021vsg.1_Missense_Mutation_p.S221P|PHOSPHO2_uc002ufg.3_Missense_Mutation_p.S221P|KLHL23_uc002ufh.2_Intron|PHOSPHO2_uc021vsk.1_Missense_Mutation_p.S221P NM_001199288 NP_001186217 Q8TCD6 PHOP2_HUMAN Homo sapiens phosphatase, orphan 2 (PHOSPHO2), transcript variant 5, mRNA. 221 metal ion binding|pyridoxal phosphatase activity breast(1)|large_intestine(1)|lung(6)|skin(2) 10 TATGGAATATTCTGTTGTAGT 0.328 MYO1B 4430 broad.mit.edu 37 2 192248067 192248067 + Missense_Mutation SNP A A T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr2:192248067A>T uc010fsg.2 + 15 1608 c.1353_splice c.e15+1 p.N451_splice MYO1B_uc002usq.2_Splice_Site_p.N451_splice|MYO1B_uc002usr.2_Splice_Site_p.N451_splice|MYO1B_uc002ust.1_Splice_Site_p.N89_splice NM_001130158 NP_001155291 O43795 MYO1B_HUMAN Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA. 451 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) CTAATAGAAAATGTGAGTACT 0.313 ALS2 57679 broad.mit.edu 37 2 202609022 202609022 + Missense_Mutation SNP C C G TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr2:202609022C>G uc002uyo.3 - 9 2485 c.2129G>C c.(2128-2130)aGt>aCt p.S710T ALS2_uc002uyp.4_Missense_Mutation_p.S710T|ALS2_uc002uyq.3_Missense_Mutation_p.S710T|ALS2_uc010ftl.3_Non-coding_Transcript NM_020919 NP_065970 Q96Q42 ALS2_HUMAN Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA. 710 DH. cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 TTTGATATCACTTAGTTTTGA 0.398 SLC11A1 6556 broad.mit.edu 37 2 219254613 219254613 + Silent SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr2:219254613C>T uc002vhv.3 + 8 1156 c.816C>T c.(814-816)gcC>gcT p.A272A SLC11A1_uc010fvp.1_Silent_p.A272A|SLC11A1_uc010fvq.1_Silent_p.A205A|SLC11A1_uc010zkc.1_Silent_p.A205A|SLC11A1_uc002vhu.1_Silent_p.A67A|SLC11A1_uc002vhw.3_Silent_p.A154A|SLC11A1_uc010fvr.3_Silent_p.A67A NM_000578 NP_000569 P49279 NRAM1_HUMAN Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA. 272 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TAGACCGGGCCCGCCGAGCAG 0.537 NANP 140838 broad.mit.edu 37 20 25597030 25597030 + Missense_Mutation SNP G G C TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr20:25597030G>C uc002wuy.3 - 1 342 c.278C>G c.(277-279)gCt>gGt p.A93G NM_152667 NP_689880 Q8TBE9 NANP_HUMAN Homo sapiens N-acetylneuraminic acid phosphatase (NANP), mRNA. 93 N-acetylneuraminate biosynthetic process N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity endometrium(2)|lung(2)|prostate(1) 5 ACATTCTTCAGCCAATTTTCT 0.403 CDH4 1002 broad.mit.edu 37 20 60509217 60509217 + Missense_Mutation SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr20:60509217C>T uc002ybn.2 + 14 2571 c.2483C>T c.(2482-2484)cCc>cTc p.P828L CDH4_uc002ybr.2_Missense_Mutation_p.P791L|CDH4_uc002ybp.2_Missense_Mutation_p.P754L NM_001794 NP_001785 P55283 CADH4_HUMAN Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA. 828 adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GGCGCTGAGCCCCAGTACCCG 0.677 NTSR1 4923 broad.mit.edu 37 20 61341151 61341151 + Missense_Mutation SNP C C A TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr20:61341151C>A uc002ydf.3 + 0 963 c.592C>A c.(592-594)Ctg>Atg p.L198M NM_002531 NP_002522 P30989 NTR1_HUMAN Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA. 198 endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3) 27 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) CGCCTCGGCCCTGCTGGCGGT 0.672 GAB4 128954 broad.mit.edu 37 22 17450832 17450832 + Splice_Site SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr22:17450832C>T uc002zlw.3 - 4 1045 c.937_splice c.e4+1 p.A313_splice GAB4_uc010gqs.1_Intron NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA. 313 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) GGGGTACACACCCTCATTATC 0.597 DEPDC5 9681 broad.mit.edu 37 22 32234828 32234828 + Nonsense_Mutation SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr22:32234828C>T uc011alu.2 + 26 2714 c.2512C>T c.(2512-2514)Cga>Tga p.R838* DEPDC5_uc011als.2_Nonsense_Mutation_p.R760*|DEPDC5_uc003als.3_Nonsense_Mutation_p.R829*|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Nonsense_Mutation_p.R829*|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Nonsense_Mutation_p.R278*|DEPDC5_uc011alw.1_Nonsense_Mutation_p.R159*|DEPDC5_uc003alw.3_Nonsense_Mutation_p.R127*|DEPDC5_uc011alx.2_Intron NM_001242896 NP_001229825 O75140 DEPD5_HUMAN Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA. 829 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 ACTCTATAGCCGAGGTGAGTT 0.458 RNF123 63891 broad.mit.edu 37 3 49737157 49737157 + Silent SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr3:49737157C>T uc003cxh.3 + 11 1022 c.936C>T c.(934-936)acC>acT p.T312T RNF123_uc010hky.1_5'UTR|RNF123_uc003cxi.3_Non-coding_Transcript NM_022064 NP_071347 Q5XPI4 RN123_HUMAN Homo sapiens ring finger protein 123 (RNF123), mRNA. 312 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) GCCAGCCCACCGTCCTCCTCA 0.647 ALG3 10195 broad.mit.edu 37 3 183962404 183962404 + Silent SNP G G A TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr3:183962404G>A uc003fne.2 - 4 742 c.711C>T c.(709-711)atC>atT p.I237I ALG3_uc011brc.1_Silent_p.I202I|ALG3_uc011brd.1_Silent_p.I181I|ALG3_uc011bre.1_Silent_p.I189I NM_005787 NP_005778 Q92685 ALG3_HUMAN Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA. 237 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGCCAGCACAGATTCCCAGCT 0.537 PDGFRA 5156 broad.mit.edu 37 4 55131090 55131090 + Silent SNP A A G TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr4:55131090A>G uc003han.4 + 4 964 c.633A>G c.(631-633)acA>acG p.T211T PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_3'UTR|PDGFRA_uc010igq.1_Silent_p.T105T|PDGFRA_uc003ham.2_Non-coding_Transcript NM_006206 NP_006197 P16234 PGFRA_HUMAN Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA. 211 Ig-like C2-type 3. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.A210V(1)|p.A210fs*7(1) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TTATAGCAACATCAGAGCTGG 0.373 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) LPHN3 23284 broad.mit.edu 37 4 62363023 62363023 + Silent SNP G G A TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr4:62363023G>A uc010ihh.3 + 0 185 c.12G>A c.(10-12)tcG>tcA p.S4S LPHN3_uc003hcq.4_Silent_p.S4S|LPHN3_uc010ihg.1_Silent_p.S4S NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN Homo sapiens latrophilin 3 (LPHN3), mRNA. 4 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TGTGGCCATCGCAGCTACTAA 0.348 DCK 1633 broad.mit.edu 37 4 71888254 71888254 + Missense_Mutation SNP T T G TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr4:71888254T>G uc003hfx.3 + 2 666 c.378T>G c.(376-378)ttT>ttG p.F126L DCK_uc011cbb.2_Missense_Mutation_p.F54L NM_000788 NP_000779 P27707 DCK_HUMAN Homo sapiens deoxycytidine kinase (DCK), mRNA. 126 purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process cytosol|nucleus ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1) 9 Lung(101;0.235) Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943) TATTATTTTTTGAACGATCTG 0.358 ANXA3 306 broad.mit.edu 37 4 79507428 79507428 + Silent SNP C C T rs144437584 TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr4:79507428C>T uc003hld.3 + 5 637 c.327C>T c.(325-327)aaC>aaT p.N109N NM_005139 NP_005130 P12429 ANXA3_HUMAN Homo sapiens annexin A3 (ANXA3), mRNA. 109 defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 CGGGAACAAACGAAGATGCCT 0.343 FGG 2266 broad.mit.edu 37 4 155529787 155529787 + Missense_Mutation SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr4:155529787C>T uc003ioj.3 - 6 823 c.682G>A c.(682-684)Gta>Ata p.V228I FGG_uc003iog.3_Missense_Mutation_p.V228I NM_021870 NP_068656 P02679 FIBG_HUMAN Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA. 228 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) TTGAAATCTACACTGCCATCA 0.343 PLEKHG4B 153478 broad.mit.edu 37 5 181778 181778 + Missense_Mutation SNP G G A rs114040866 by1000genomes TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr5:181778G>A uc003jak.2 + 16 3534 c.3484G>A c.(3484-3486)Gtc>Atc p.V1162I NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA. 1162 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CGACAGCATCGTCAAGGGCAC 0.637 BASP1 10409 broad.mit.edu 37 5 17275370 17275370 + Silent SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr5:17275370C>T uc003jfx.3 + 1 224 c.45C>T c.(43-45)aaC>aaT p.N15N BASP1_uc021xws.1_Silent_p.N15N NM_006317 NP_006308 P80723 BASP1_HUMAN Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA. 15 glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding endometrium(1)|lung(8) 9 ACAATGTGAACGACGAGAAAG 0.567 CDH18 1016 broad.mit.edu 37 5 19721516 19721516 + Missense_Mutation SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr5:19721516C>T uc003jgd.3 - 4 1117 c.583G>A c.(583-585)Gct>Act p.A195T CDH18_uc011cnm.2_Missense_Mutation_p.A195T|CDH18_uc003jgc.3_Missense_Mutation_p.A195T|CDH18_uc021xwu.1_Missense_Mutation_p.A195T NM_004934 NP_004925 Q13634 CAD18_HUMAN Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA. 195 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A195T(2)|p.S194R(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) ACCACCCGAGCGCTGTTTCCA 0.463 PIK3R1 5295 broad.mit.edu 37 5 67575468 67575468 + Frame_Shift_Del DEL G G - rs143572224 TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr5:67575468delG uc003jva.3 + 4 1121 c.541delG c.(541-543)gttfs p.V181fs NM_181523 NP_852664 P27986 P85A_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA. 181 Rho-GAP. 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.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) CGATGTGCACGTTTTGGCTGA 0.393 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) POU5F2 134187 broad.mit.edu 37 5 93077142 93077142 + Missense_Mutation SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr5:93077142C>T uc003kkl.1 - 0 168 c.128G>A c.(127-129)aGg>aAg p.R43K FAM172A_uc010jbd.3_Intron|FAM172A_uc011cuf.2_Intron|FAM172A_uc011cug.2_Intron|FAM172A_uc011cuh.2_Intron|FAM172A_uc011cui.2_Intron|FAM172A_uc011cuj.2_Intron NM_153216 NP_694948 Q8N7G0 PO5F2_HUMAN Homo sapiens POU domain class 5, transcription factor 2 (POU5F2), mRNA. 43 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19) GACCATCACCCTGCCAGGGGC 0.687 FTMT 94033 broad.mit.edu 37 5 121187720 121187720 + Missense_Mutation SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr5:121187720C>T uc003kss.3 + 0 71 c.62C>T c.(61-63)cCg>cTg p.P21L NM_177478 NP_803431 Q8N4E7 FTMT_HUMAN Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA. 21 cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity p.R20C(1)|p.R20S(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) TCTCTGCGCCCGGTGCGCTGC 0.736 SLU7 10569 broad.mit.edu 37 5 159842130 159842130 + Splice_Site DEL A A - TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr5:159842130delA uc003lyg.3 - 2 325 c.170_splice c.e2+1 p.K57_splice SLU7_uc003lyh.1_Splice_Site_p.K57_splice|SLU7_uc003lyi.1_Splice_Site_p.K57_splice NM_006425 NP_006416 O95391 SLU7_HUMAN Homo sapiens SLU7 splicing factor homolog (S. cerevisiae) (SLU7), mRNA. 57 alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1) 20 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTAAGTACTTACTTTCCTTCT 0.358 GABRB2 2561 broad.mit.edu 37 5 160721269 160721269 + Missense_Mutation SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr5:160721269C>T uc003lys.1 - 10 1576 c.1358G>A c.(1357-1359)cGa>cAa p.R453Q GABRB2_uc011deh.1_Missense_Mutation_p.R254Q|GABRB2_uc003lyr.1_Missense_Mutation_p.R415Q|GABRB2_uc003lyt.1_Missense_Mutation_p.R415Q NM_021911 NP_068711 P47870 GBRB2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA. 453 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CAGAGCATTTCGGCCAAAACT 0.532 FKBPL 63943 broad.mit.edu 37 6 32097113 32097113 + Missense_Mutation SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr6:32097113C>T uc003nzr.3 - 1 715 c.445G>A c.(445-447)Ggg>Agg p.G149R ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Missense_Mutation_p.G149R NM_022110 NP_071393 Q9UIM3 FKBPL_HUMAN Homo sapiens FK506 binding protein like (FKBPL), mRNA. 149 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity CTCCATGGCCCTACGCCCATA 0.582 PKHD1 5314 broad.mit.edu 37 6 51890856 51890856 + Missense_Mutation SNP G G T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr6:51890856G>T uc003pah.1 - 31 4028 c.3752C>A c.(3751-3753)aCc>aAc p.T1251N PKHD1_uc003pai.3_Missense_Mutation_p.T1251N NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 1251 IPT/TIG 7. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GGCTGGCAGGGTTTCACACCA 0.597 WBSCR17 64409 broad.mit.edu 37 7 70597844 70597844 + Missense_Mutation SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr7:70597844C>T uc003tvy.3 + 0 56 c.56C>T c.(55-57)gCc>gTc p.A19V NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 19 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.V18L(1) NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) ATCGCGGTAGCCGGCTTCGTG 0.677 CLIP2 7461 broad.mit.edu 37 7 73791076 73791076 + Missense_Mutation SNP G G A TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr7:73791076G>A uc003uam.3 + 9 2672 c.2345G>A c.(2344-2346)aGt>aAt p.S782N CLIP2_uc003uan.3_Missense_Mutation_p.S747N|CLIP2_uc003uao.3_Missense_Mutation_p.S176N NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA. 782 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 GAGGTCGAGAGTTTGCGGGAG 0.632 AKAP9 10142 broad.mit.edu 37 7 91711915 91711915 + Frame_Shift_Del DEL C C - TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr7:91711915delC uc003ulg.3 + 31 8324 c.8099delC c.(8098-8100)gctfs p.A2700fs AKAP9_uc003ulf.3_Frame_Shift_Del_p.A2692fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.A2323fs|AKAP9_uc003ulj.3_Frame_Shift_Del_p.A470fs|AKAP9_uc003ulk.3_5'Flank NM_005751 NP_005742 Q99996 AKAP9_HUMAN Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA. 2712 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GAATCAGTGGCTACCAAAGCA 0.373 T BRAF papillary thyroid JHDM1D 80853 broad.mit.edu 37 7 139824534 139824534 + Missense_Mutation SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr7:139824534C>T uc003vvm.3 - 6 942 c.938G>A c.(937-939)cGt>cAt p.R313H NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA. 313 JmjC. midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) AGATTCATAACGTGCCAAATT 0.358 MGAM 8972 broad.mit.edu 37 7 141765179 141765179 + Missense_Mutation SNP G G A TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr7:141765179G>A uc003vwy.3 + 37 4583 c.4529G>A c.(4528-4530)cGc>cAc p.R1510H NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1510 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GTCATCACCCGCTCCACATTT 0.597 KEL 3792 broad.mit.edu 37 7 142658027 142658027 + Missense_Mutation SNP G G A TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr7:142658027G>A uc003wcb.3 - 3 598 c.388C>T c.(388-390)Cgg>Tgg p.R130W NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 130 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) AGTATTCTCCGAAGTCGGTTT 0.502 NEFL 4747 broad.mit.edu 37 8 24813390 24813390 + Missense_Mutation SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr8:24813390C>T uc003xee.3 - 0 742 c.640G>A c.(640-642)Gac>Aac p.D214N NM_006158 NP_006149 P07196 NFL_HUMAN Homo sapiens neurofilament, light polypeptide (NEFL), mRNA. 214 Coil 1B.|Rod. anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2) 21 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) ATCAAGCTGTCGATGCGCTTC 0.632 INSL6 11172 broad.mit.edu 37 9 5185459 5185459 + Silent SNP G G A TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr9:5185459G>A uc003zix.3 - 0 160 c.144C>T c.(142-144)gcC>gcT p.A48A NM_007179 NP_009110 Q9Y581 INSL6_HUMAN Homo sapiens insulin-like 6 (INSL6), mRNA. 48 extracellular region hormone activity breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2) 15 all_hematologic(13;0.137) Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145) GGCTCCAGTTGGCATGGCCGC 0.532 NUDT2 318 broad.mit.edu 37 9 34343182 34343182 + Missense_Mutation SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr9:34343182C>T uc003zuc.3 + 4 475 c.188C>T c.(187-189)gCa>gTa p.A63V NUDT2_uc003zub.3_Missense_Mutation_p.A63V|NUDT2_uc003zud.3_Missense_Mutation_p.A63V|NUDT2_uc022bga.1_Missense_Mutation_p.A63V NM_147172 NP_671701 P50583 AP4A_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 2 (NUDT2), transcript variant 2, mRNA. 63 Nudix hydrolase. induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding lung(3) 3 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) CAAGAGGAAGCAGGCATAGAA 0.493 NAA35 60560 broad.mit.edu 37 9 88633637 88633637 + Silent SNP T T C TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr9:88633637T>C uc004aoi.4 + 20 2075 c.1938T>C c.(1936-1938)taT>taC p.Y646Y NAA35_uc004aoj.4_Silent_p.Y646Y NM_024635 NP_078911 Q5VZE5 NAA35_HUMAN Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA. 646 smooth muscle cell proliferation cytoplasm|nucleus|plasma membrane central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 25 TCAATAAATATAGCCCTCCTC 0.363 PTPN3 5774 broad.mit.edu 37 9 112189356 112189356 + Missense_Mutation SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr9:112189356C>T uc004bed.2 - 11 987 c.875G>A c.(874-876)cGa>cAa p.R292Q PTPN3_uc004beb.2_Missense_Mutation_p.R161Q|PTPN3_uc004bec.2_Missense_Mutation_p.R161Q|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.R292Q|PTPN3_uc011lwh.1_Missense_Mutation_p.R183Q|PTPN3_uc011lwe.1_Missense_Mutation_p.R5Q|PTPN3_uc011lwf.1_Missense_Mutation_p.R5Q NM_002829 NP_001138843 P26045 PTN3_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA. 292 FERM. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 TTTGCAAGATCGGTAATTCAG 0.448 RGS3 5998 broad.mit.edu 37 9 116268773 116268773 + Missense_Mutation SNP G G A TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chr9:116268773G>A uc004bhq.3 + 13 1294 c.1085_splice c.e13+1 p.R362_splice RGS3_uc004bhr.3_Splice_Site_p.R250_splice|RGS3_uc004bhs.3_Splice_Site_p.R252_splice|RGS3_uc004bht.3_Splice_Site_p.R81_splice|RGS3_uc010muy.3_Splice_Site_p.R81_splice|RGS3_uc004bhu.3_Splice_Site NM_144488 NP_652759 P49796 RGS3_HUMAN Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA. 362 PDZ. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 CACGAGATCCGGTGACAGGGG 0.677 GYG2 8908 broad.mit.edu 37 X 2799206 2799206 + Silent SNP G G A TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chrX:2799206G>A uc004cqs.1 + 11 1740 c.1458G>A c.(1456-1458)aaG>aaA p.K486K GYG2_uc004cqu.1_Silent_p.K454K|GYG2_uc004cqx.2_Silent_p.K415K|GYG2_uc004cqt.1_Silent_p.K455K|GYG2_uc004cqv.1_Silent_p.K229K|GYG2_uc004cqw.1_Silent_p.K446K|GYG2_uc010ndc.1_Silent_p.K264K NM_003918 NP_003909 O15488 GLYG2_HUMAN Homo sapiens glycogenin 2 (GYG2), transcript variant 2, mRNA. 486 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|soluble fraction glycogenin glucosyltransferase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ACATGGGGAAGGACGCGTTTG 0.552 MXRA5 25878 broad.mit.edu 37 X 3229254 3229254 + Silent SNP G G A TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chrX:3229254G>A uc004crg.4 - 6 7147 c.6990C>T c.(6988-6990)gtC>gtT p.V2330V NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2330 Ig-like C2-type 7. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CGTCCTTCCCGACCTGATTTT 0.542 ARHGAP6 395 broad.mit.edu 37 X 11272748 11272748 + Missense_Mutation SNP T T C TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chrX:11272748T>C uc004cup.1 - 1 1541 c.668A>G c.(667-669)gAg>gGg p.E223G ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.E223G|ARHGAP6_uc004cum.1_Missense_Mutation_p.E20G|ARHGAP6_uc004cun.1_Missense_Mutation_p.E43G|ARHGAP6_uc010neb.1_Missense_Mutation_p.E45G|ARHGAP6_uc011mif.1_Missense_Mutation_p.E20G NM_013427 NP_038286 O43182 RHG06_HUMAN Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA. 223 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CCGGGCCCTCTCCAGCTCTGA 0.522 CDKL5 6792 broad.mit.edu 37 X 18627018 18627018 + Missense_Mutation SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chrX:18627018C>T uc004cym.3 + 12 2285 c.2032C>T c.(2032-2034)Cgc>Tgc p.R678C CDKL5_uc004cyn.3_Missense_Mutation_p.R678C|CDKL5_uc022btn.1_Missense_Mutation_p.R669C NM_003159 NP_003150 O76039 CDKL5_HUMAN Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA. 678 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) CTTCCATACACGCCAGAAGTC 0.433 IL1RAPL1 11141 broad.mit.edu 37 X 29972739 29972739 + Silent SNP A A G TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chrX:29972739A>G uc004dby.2 + 9 1810 c.1302A>G c.(1300-1302)ctA>ctG p.L434L NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA. 434 TIR. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 TTGAAATCCTACCTGATATGC 0.363 GRIPAP1 56850 broad.mit.edu 37 X 48831638 48831638 + Missense_Mutation SNP G G A TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chrX:48831638G>A uc004dly.1 - 24 2397 c.2362C>T c.(2362-2364)Ctt>Ttt p.L788F NM_020137 NP_064522 Q4V328 GRAP1_HUMAN Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA. 788 early endosome breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2) 10 ATCTCCCGAAGGTTCTCGTCG 0.592 NOX1 27035 broad.mit.edu 37 X 100117739 100117739 + Silent SNP G G A TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chrX:100117739G>A uc004egj.3 - 4 614 c.408C>T c.(406-408)tcC>tcT p.S136S NOX1_uc004egl.4_Silent_p.S136S|NOX1_uc010nne.3_Silent_p.S99S NM_007052 NP_008983 Q9Y5S8 NOX1_HUMAN Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA. 136 Ferric oxidoreductase. angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity cervix(1)|lung(3)|ovary(1)|skin(2) 7 TGGAGGCAAGGGAGCCATCTG 0.453 BHLHB9 80823 broad.mit.edu 37 X 102004877 102004877 + Silent SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chrX:102004877C>T uc022cbi.1 + 0 954 c.954C>T c.(952-954)tgC>tgT p.C318C BHLHB9_uc010nog.3_Silent_p.C318C|BHLHB9_uc011mrq.2_Silent_p.C318C|BHLHB9_uc011mrr.2_Silent_p.C318C|BHLHB9_uc011mrs.2_Silent_p.C318C|BHLHB9_uc011mrt.2_Silent_p.C318C|BHLHB9_uc004ejo.3_Silent_p.C318C|BHLHB9_uc011mru.2_Silent_p.C318C|BHLHB9_uc011mrv.2_Silent_p.C318C NM_030639 NP_085142 Q6PI77 BHLH9_HUMAN Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA. 318 C -> R (in dbSNP:rs4514179). cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AAATGGAATGCTATATGGATT 0.398 MAGEA4 4103 broad.mit.edu 37 X 151093031 151093031 + Missense_Mutation SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx af4f8b89-837a-48b7-b0e7-12aec23fc285 3e0712a1-b66a-42e7-94a3-07edee7dce2b g.chrX:151093031C>T uc022cgv.1 + 0 895 c.895C>T c.(895-897)Cgc>Tgc p.R299C MAGEA4_uc004fez.3_Missense_Mutation_p.R299C|MAGEA4_uc004ffa.3_Missense_Mutation_p.R299C|MAGEA4_uc004ffb.3_Missense_Mutation_p.R299C|MAGEA4_uc022cgu.1_Missense_Mutation_p.R327C|MAGEA4_uc004ffc.3_Missense_Mutation_p.R299C|MAGEA4_uc004ffd.3_Missense_Mutation_p.R299C NM_002362 NP_002353 P43358 MAGA4_HUMAN Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA. 299 MAGE. protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) TGCAAGAGTTCGCATTGCCTA 0.567