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 PHACTR4 65979 broad.mit.edu 37 1 28800112 28800112 + Silent SNP G G A TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr1:28800112G>A uc001bpy.3 + 5 1135 c.900G>A c.(898-900)ccG>ccA p.P300P PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Silent_p.P290P|PHACTR4_uc001bpx.3_Silent_p.P274P NM_023923 NP_076412 Q8IZ21 PHAR4_HUMAN Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA. 290 Pro-rich. actin binding|protein phosphatase inhibitor activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TATCAAAACCGTCCCCACCCT 0.463 C1orf141 400757 broad.mit.edu 37 1 67561965 67561965 + Missense_Mutation SNP A A G TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr1:67561965A>G uc001ddl.1 - 4 497 c.386T>C c.(385-387)gTt>gCt p.V129A C1orf141_uc001ddm.1_Missense_Mutation_p.V129A|C1orf141_uc001ddn.1_Non-coding_Transcript NM_001013674 NP_001013696 Q5JVX7 CA141_HUMAN Homo sapiens chromosome 1 open reading frame 141 (C1orf141), mRNA. 129 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 TAAGAGACCAACAGAATCCAA 0.259 WDR63 126820 broad.mit.edu 37 1 85551548 85551548 + Missense_Mutation SNP T T A TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr1:85551548T>A uc001dkt.3 + 6 766 c.575T>A c.(574-576)tTt>tAt p.F192Y WDR63_uc009wcl.3_Missense_Mutation_p.F192Y NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN Homo sapiens WD repeat domain 63 (WDR63), mRNA. 192 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3) 36 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) CGAAGTGAATTTGGTGCACCA 0.353 PGLYRP4 57115 broad.mit.edu 37 1 153313050 153313050 + Missense_Mutation SNP G G C TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr1:153313050G>C uc001fbo.3 - 6 696 c.631C>G c.(631-633)Ccc>Gcc p.P211A PGLYRP4_uc001fbp.3_Missense_Mutation_p.P207A NM_020393 NP_065126 Q96LB8 PGRP4_HUMAN Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA. 211 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) ACAACGCCGGGGCAAGCTGAG 0.587 KIFAP3 22920 broad.mit.edu 37 1 169951166 169951166 + Missense_Mutation SNP G G A TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr1:169951166G>A uc001ggv.3 - 14 2016 c.1745C>T c.(1744-1746)gCt>gTt p.A582V KIFAP3_uc021pep.1_Missense_Mutation_p.A542V|KIFAP3_uc010ply.2_Missense_Mutation_p.A504V|KIFAP3_uc001ggw.2_Missense_Mutation_p.A538V|KIFAP3_uc010plx.2_Missense_Mutation_p.A284V NM_014970 NP_001191446 Q92845 KIFA3_HUMAN Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA. 582 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding p.A582V(2) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TAGCAATGCAGCACAAGAGTC 0.343 ANKRD26 22852 broad.mit.edu 37 10 27350076 27350076 + Missense_Mutation SNP T T C TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr10:27350076T>C uc009xku.1 - 12 1631 c.1459A>G c.(1459-1461)Atg>Gtg p.M487V ANKRD26_uc001itg.2_Intron|ANKRD26_uc001ith.2_Missense_Mutation_p.M487V NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA. 487 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 TCCATACCCATGTGGGCTACT 0.348 MPP7 143098 broad.mit.edu 37 10 28409253 28409254 + Missense_Mutation DNP CA CA AG TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr10:28409253_28409254CA>AG uc001iua.1 - 11 1160_1161 c.756_757TG>CT c.(754-759)gctggg>gcCTgg p.G253W MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.G253W|MPP7_uc009xla.2_Missense_Mutation_p.G253W|MPP7_uc010qdv.1_Non-coding_Transcript NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA. 253 SH3. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 AAAGAAAGCCCAGCTTCCTTAC 0.406 BMS1 9790 broad.mit.edu 37 10 43316067 43316067 + Missense_Mutation SNP G G C TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr10:43316067G>C uc001jaj.3 + 16 3239 c.2881G>C c.(2881-2883)Gac>Cac p.D961H NM_014753 NP_055568 Q14692 BMS1_HUMAN Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA. 961 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TTATATCGAAGACCACAATGG 0.428 BICC1 80114 broad.mit.edu 37 10 60553292 60553292 + Missense_Mutation SNP G G A TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr10:60553292G>A uc001jki.1 + 8 1096 c.1096G>A c.(1096-1098)Gta>Ata p.V366I BICC1_uc001jkj.1_Missense_Mutation_p.V7I NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA. 366 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 AGAAATTGAAGTAGATCCACA 0.368 OR5L1 219437 broad.mit.edu 37 11 55579759 55579759 + Missense_Mutation SNP G G T TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr11:55579759G>T uc001nhw.1 + 0 817 c.817G>T c.(817-819)Gtg>Ttg p.V273L NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA. 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TGCTGACAAAGTGGCCACCGT 0.473 OR5B12 390191 broad.mit.edu 37 11 58207194 58207194 + Missense_Mutation SNP A A G TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr11:58207194A>G uc010rkh.2 - 0 453 c.431T>C c.(430-432)aTa>aCa p.I144T NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA. 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) GTAGGAGCCTATGGCCAGGCA 0.463 IGHMBP2 3508 broad.mit.edu 37 11 68704092 68704092 + Missense_Mutation SNP G G A TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr11:68704092G>A uc001ook.1 + 12 2246 c.2144G>A c.(2143-2145)gGc>gAc p.G715D IGHMBP2_uc001ool.1_Missense_Mutation_p.G339D|IGHMBP2_uc001oom.1_Missense_Mutation_p.G293D NM_002180 NP_002171 P38935 SMBP2_HUMAN Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA. 715 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CTCAACGGAGGCAGCCCAGAG 0.617 TMEM133 83935 broad.mit.edu 37 11 100863381 100863381 + Silent SNP G G T TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr11:100863381G>T uc001pgf.3 + 0 571 c.342G>T c.(340-342)gtG>gtT p.V114V NM_032021 NP_114410 Q9H2Q1 TM133_HUMAN Homo sapiens transmembrane protein 133 (TMEM133), mRNA. 114 integral to membrane kidney(2)|large_intestine(1)|lung(1)|prostate(1) 5 Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014) BRCA - Breast invasive adenocarcinoma(274;0.0675) TTCAAAATGTGCCAGTTCCAC 0.373 TAS2R9 50835 broad.mit.edu 37 12 10962585 10962585 + Silent SNP A A T TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr12:10962585A>T uc001qyx.3 - 0 183 c.90T>A c.(88-90)gtT>gtA p.V30V NM_023917 NP_076406 Q9NYW1 TA2R9_HUMAN Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA. 30 sensory perception of taste integral to membrane taste receptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 CAATGCAGTTAACTAGTACAA 0.388 BIN2 51411 broad.mit.edu 37 12 51685543 51685543 + Silent SNP C C T TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr12:51685543C>T uc001ryg.3 - 9 1399 c.1347G>A c.(1345-1347)agG>agA p.R449R BIN2_uc009zlz.3_Silent_p.R417R|BIN2_uc001ryh.3_Silent_p.R325R|BIN2_uc010sng.2_Silent_p.R423R NM_016293 NP_057377 Q9UBW5 BIN2_HUMAN Homo sapiens bridging integrator 2 (BIN2), mRNA. 449 Pro-rich. cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 CCAAGGAGGCCCTAGGGCTGG 0.612 R3HDM2 22864 broad.mit.edu 37 12 57648757 57648757 + Silent SNP A A C TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr12:57648757A>C uc009zpm.1 - 21 2765 c.2730T>G c.(2728-2730)ggT>ggG p.G910G R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Silent_p.G605G|R3HDM2_uc001snr.2_Silent_p.G637G|R3HDM2_uc001sns.2_Silent_p.G910G|R3HDM2_uc001snt.2_Silent_p.G924G NM_014925 NP_055740 Q9Y2K5 R3HD2_HUMAN Homo sapiens R3H domain containing 2 (R3HDM2), mRNA. 910 Poly-Gly. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 TGTCCCCCCCACCCCCTCCAG 0.632 IRAK3 11213 broad.mit.edu 37 12 66638935 66638935 + Missense_Mutation SNP C C A TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr12:66638935C>A uc001sth.3 + 10 1309 c.1207C>A c.(1207-1209)Cta>Ata p.L403I IRAK3_uc010ssy.2_Missense_Mutation_p.L342I NM_007199 NP_009130 Q9Y616 IRAK3_HUMAN Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA. 403 Protein kinase. interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(28;0.0203) TCTCTCATTTCTAGATAAGAA 0.478 ATP11A 23250 broad.mit.edu 37 13 113510350 113510350 + Missense_Mutation SNP G G A TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr13:113510350G>A uc001vsj.4 + 19 2457 c.2369G>A c.(2368-2370)aGc>aAc p.S790N ATP11A_uc001vsi.4_Missense_Mutation_p.S790N|ATP11A_uc001vsm.1_Missense_Mutation_p.S666N|ATP11A_uc010ago.3_Non-coding_Transcript NM_032189 NP_115565 P98196 AT11A_HUMAN Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA. 790 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) ATCTGCCGGAGCTGCAGCGCG 0.597 DCAF11 80344 broad.mit.edu 37 14 24588926 24588926 + Missense_Mutation SNP T T C TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr14:24588926T>C uc001wlv.3 + 10 1193 c.913T>C c.(913-915)Tcc>Ccc p.S305P DCAF11_uc001wlw.3_Missense_Mutation_p.S305P|DCAF11_uc001wlz.3_Missense_Mutation_p.S205P|DCAF11_uc001wly.3_Missense_Mutation_p.S261P|DCAF11_uc010tny.2_Missense_Mutation_p.S172P|DCAF11_uc001wmc.3_Missense_Mutation_p.S205P|DCAF11_uc001wmb.4_Missense_Mutation_p.S279P|DCAF11_uc001wma.4_Missense_Mutation_p.S305P NM_001163484 NP_079506 Q8TEB1 DCA11_HUMAN Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA. 305 CUL4 RING ubiquitin ligase complex protein binding CTAGATTGAGTCCCATGAGGA 0.483 GRAMD2 196996 broad.mit.edu 37 15 72460907 72460907 + Missense_Mutation SNP T T C TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr15:72460907T>C uc002atq.3 - 4 217 c.193_splice c.e4-1 p.I65_splice GRAMD2_uc010bis.2_Splice_Site_p.I65_splice NM_001012642 NP_001012660 Q8IUY3 GRAM2_HUMAN Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA. 65 integral to membrane cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 13 TTCAGTGTTATCTGCAAACAC 0.542 IDH3A 3419 broad.mit.edu 37 15 78454015 78454015 + Missense_Mutation SNP G G T TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr15:78454015G>T uc002bdd.3 + 4 409 c.382G>T c.(382-384)Gtc>Ttc p.V128F IDH3A_uc010umt.2_Intron|IDH3A_uc010umu.2_Missense_Mutation_p.V19F|IDH3A_uc002bdf.3_5'UTR|IDH3A_uc010umv.2_Missense_Mutation_p.V78F|IDH3A_uc021srf.1_Non-coding_Transcript|IDH3A_uc002bdg.3_Missense_Mutation_p.V41F NM_005530 NP_005521 P50213 IDH3A_HUMAN Homo sapiens isocitrate dehydrogenase 3 (NAD+) alpha (IDH3A), nuclear gene encoding mitochondrial protein, mRNA. 128 carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 12 NADH(DB00157) CCGACCATGTGTCTCTATCGA 0.443 GOLGA6L10 647042 broad.mit.edu 37 15 83014106 83014106 + Silent SNP T T C TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr15:83014106T>C uc021ssz.1 - 5 577 c.441A>G c.(439-441)gtA>gtG p.V147V LOC440295_uc002bhl.2_Intron|GOLGA6L9_uc021ssr.1_Intron|LOC440295_uc002bhm.2_Intron|GOLGA6L10_uc021sta.1_Non-coding_Transcript A6NI86 GG6LA_HUMAN Homo sapiens golgin A6 family-like 10 (GOLGA6L10), mRNA. 159 p.V159V(12) endometrium(1)|kidney(4) 5 GTAGCTGCTCTACCTTAGATG 0.498 PARN 5073 broad.mit.edu 37 16 14704541 14704541 + Missense_Mutation SNP T T C TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr16:14704541T>C uc010uzd.2 - 6 660 c.514A>G c.(514-516)Acg>Gcg p.T172A PARN_uc010uzc.2_Missense_Mutation_p.T111A|PARN_uc010uze.2_Missense_Mutation_p.T126A|PARN_uc010uzf.2_Intron|PARN_uc010uzg.2_Non-coding_Transcript NM_002582 NP_001127949 O95453 PARN_HUMAN Homo sapiens poly(A)-specific ribonuclease (PARN), transcript variant 1, mRNA. 172 female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification cytosol|nucleolus metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1) 21 TCAGGAATCGTGACAGGACAT 0.408 ZNF646 9726 broad.mit.edu 37 16 31087887 31087887 + Missense_Mutation SNP G G A TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr16:31087887G>A uc002eap.3 + 1 531 c.242G>A c.(241-243)gGc>gAc p.G81D ZNF668_uc002eao.3_5'Flank|ZNF646_uc021tgu.1_Missense_Mutation_p.G81D NM_014699 NP_055514 O15015 ZN646_HUMAN Homo sapiens zinc finger protein 646 (ZNF646), mRNA. 81 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 ACCACCTGTGGCAAGGACTTC 0.627 NXN 64359 broad.mit.edu 37 17 722696 722696 + Missense_Mutation SNP C C T TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr17:722696C>T uc002fsa.3 - 4 883 c.803G>A c.(802-804)cGg>cAg p.R268Q NXN_uc002fsb.1_Missense_Mutation_p.R155Q|NXN_uc010vqd.2_Missense_Mutation_p.R19Q|NXN_uc010vqe.2_Missense_Mutation_p.R160Q NM_022463 NP_071908 Q6DKJ4 NXN_HUMAN Homo sapiens nucleoredoxin (NXN), transcript variant 1, mRNA. 268 Thioredoxin. cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway cytosol|nucleus protein-disulfide reductase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) TCCGTACAGCCGGTTGAGGCG 0.607 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr17:7577120C>T uc002gim.2 - 7 1012 c.818G>A c.(817-819)cGt>cAt p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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) GGCACAAACACGCACCTCAAA 0.542 R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM) 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) KRT9 3857 broad.mit.edu 37 17 39727935 39727935 + Missense_Mutation SNP C C T TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr17:39727935C>T uc002hxe.4 - 0 376 c.310G>A c.(310-312)Ggc>Agc p.G104S JUP_uc010wfs.2_Intron NM_000226 NP_000217 P35527 K1C9_HUMAN Homo sapiens keratin 9 (KRT9), mRNA. 104 Head. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) ctactatagcctcctccagaa 0.572 ABCA9 10350 broad.mit.edu 37 17 67012462 67012462 + Missense_Mutation SNP T T C TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr17:67012462T>C uc002jhu.3 - 21 3114 c.2971A>G c.(2971-2973)Agc>Ggc p.S991G ABCA9_uc010dez.3_Missense_Mutation_p.S991G NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA. 991 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) AGTCCATTGCTAATGACATCC 0.348 RECQL5 9400 broad.mit.edu 37 17 73627684 73627684 + Missense_Mutation SNP C C T TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr17:73627684C>T uc010dgl.3 - 8 1503 c.1294G>A c.(1294-1296)Gac>Aac p.D432N RECQL5_uc010dgk.3_Missense_Mutation_p.D405N|RECQL5_uc002jot.4_5'Flank|C17orf109_uc002jow.2_5'Flank NM_004259 NP_004250 O94762 RECQ5_HUMAN Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA. 432 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) TGGCAGTGGTCGCAGCCTTTG 0.701 Other identified genes with known or suspected DNA repair function NDUFV2 4729 broad.mit.edu 37 18 9124948 9124948 + Silent SNP C C T rs143576401 byFrequency TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr18:9124948C>T uc002knu.3 + 5 660 c.546C>T c.(544-546)aaC>aaT p.N182N NM_021074 NP_066552 P19404 NDUV2_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa (NDUFV2), nuclear gene encoding mitochondrial protein, mRNA. 182 cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity breast(1)|lung(4)|ovary(1)|stomach(1) 7 NADH(DB00157) CCTGTGTGAACGCACCAATGG 0.313 GRIN3B 116444 broad.mit.edu 37 19 1004870 1004870 + Missense_Mutation SNP A A G TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr19:1004870A>G uc002lqo.1 + 2 1370 c.1370A>G c.(1369-1371)gAc>gGc p.D457G NM_138690 NP_619635 O60391 NMD3B_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA. 457 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) GCCACCCTGGACGCACTGTTC 0.672 PTPRS 5802 broad.mit.edu 37 19 5211663 5211663 + Silent SNP C C T TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr19:5211663C>T uc002mbv.3 - 32 5406 c.5172G>A c.(5170-5172)ctG>ctA p.L1724L PTPRS_uc002mbu.1_Silent_p.L1293L|PTPRS_uc010xin.2_Silent_p.L1266L|PTPRS_uc002mbw.3_Silent_p.L1686L|PTPRS_uc002mbx.3_Silent_p.L1281L|PTPRS_uc002mby.3_Silent_p.L1277L NM_002850 NP_002841 Q13332 PTPRS_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA. 1724 Tyrosine-protein phosphatase 2. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GGATGGGTTGCAGACAGACCC 0.562 C3 718 broad.mit.edu 37 19 6711035 6711035 + Missense_Mutation SNP C C T TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr19:6711035C>T uc002mfm.3 - 11 1504 c.1442G>A c.(1441-1443)cGc>cAc p.R481H NM_000064 NP_000055 P01024 CO3_HUMAN Homo sapiens complement component 3 (C3), mRNA. 481 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CTCGTGGGCGCGGTCCATTCG 0.607 PDE4C 5143 broad.mit.edu 37 19 18331288 18331288 + Silent SNP G G A TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr19:18331288G>A uc010xqc.2 - 5 1113 c.633C>T c.(631-633)gaC>gaT p.D211D PDE4C_uc002nik.4_Silent_p.D211D|PDE4C_uc002nil.4_Silent_p.D211D|PDE4C_uc002nig.4_Intron|PDE4C_uc002nih.4_Intron|PDE4C_uc010ebk.3_Silent_p.D105D|PDE4C_uc002nii.4_Silent_p.D179D|PDE4C_uc002nif.4_5'UTR|PDE4C_uc010ebl.3_5'UTR|PDE4C_uc010ebm.1_Non-coding_Transcript|PDE4C_uc002nim.1_Nonsense_Mutation_p.R195* NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA. 211 D -> Y (in Ref. 2; AAD47053/AAD47054). signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) AGTCCAGCTCGTCTAGCGTCT 0.672 SBSN 374897 broad.mit.edu 37 19 36017633 36017633 + Missense_Mutation SNP G G T TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr19:36017633G>T uc002oad.2 - 0 1621 c.1551C>A c.(1549-1551)caC>caA p.H517Q SBSN_uc002oae.2_Missense_Mutation_p.H174Q|SBSN_uc021usp.1_Intron NM_001166034 NP_001159506 Q6UWP8 SBSN_HUMAN Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA. 174 extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CAGCAGCATGGTGGGCACCTT 0.582 ZNF569 148266 broad.mit.edu 37 19 37904719 37904719 + Missense_Mutation SNP G G T TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr19:37904719G>T uc002ogj.3 - 8 1845 c.913C>A c.(913-915)Cag>Aag p.Q305K ZNF569_uc002ogh.3_Missense_Mutation_p.Q122K|ZNF569_uc002ogi.3_Missense_Mutation_p.Q281K NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN Homo sapiens zinc finger protein 569 (ZNF569), mRNA. 281 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K305R(1) breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTGATTTCTGGCTGAAGGAC 0.358 ZNF155 7711 broad.mit.edu 37 19 44500816 44500816 + Missense_Mutation SNP C C A TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr19:44500816C>A uc010xwt.1 + 5 1024 c.840C>A c.(838-840)ttC>ttA p.F280L ZNF155_uc002oxy.1_Missense_Mutation_p.F269L|ZNF155_uc002oxz.1_Missense_Mutation_p.F269L NM_198089 NP_932355 Q12901 ZN155_HUMAN Homo sapiens zinc finger protein 155 (ZNF155), transcript variant 2, mRNA. 269 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 15 Prostate(69;0.0352) GGAAGGCCTTCATTCATGATT 0.398 PNMAL1 55228 broad.mit.edu 37 19 46973358 46973359 + Missense_Mutation DNP CA CA AT TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr19:46973358_46973359CA>AT uc002peq.4 - 1 1240_1241 c.934_935TG>AT c.(934-936)tgg>ATg p.W312M PNMAL1_uc002per.4_Missense_Mutation_p.W312M NM_018215 NP_060685 Q86V59 PNML1_HUMAN Homo sapiens PNMA-like 1 (PNMAL1), transcript variant 1, mRNA. 312 cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) GGGACCCTTCCAGGCACATTTC 0.584 APOB 338 broad.mit.edu 37 2 21230155 21230155 + Missense_Mutation SNP C C G rs141840973 TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr2:21230155C>G uc002red.3 - 25 9713 c.9585G>C c.(9583-9585)gaG>gaC p.E3195D NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 3195 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.E3195Q(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GACTGATAAACTCACAAAGCA 0.323 APOB 338 broad.mit.edu 37 2 21246441 21246441 + Missense_Mutation SNP T T C TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr2:21246441T>C uc002red.3 - 16 2688 c.2560A>G c.(2560-2562)Att>Gtt p.I854V NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 854 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CCGGGAGCAATGACTCCAGAT 0.423 SPTBN1 6711 broad.mit.edu 37 2 54857158 54857158 + Silent SNP C C A TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr2:54857158C>A uc002rxu.3 + 14 3048 c.2799C>A c.(2797-2799)ctC>ctA p.L933L SPTBN1_uc002rxx.3_Silent_p.L920L NM_003128 NP_003119 Q01082 SPTB2_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA. 933 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) AGGACAAACTCAACACAAGGT 0.582 WDR33 55339 broad.mit.edu 37 2 128471476 128471476 + Missense_Mutation SNP T T C TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr2:128471476T>C uc002tpg.2 - 17 3188 c.2989A>G c.(2989-2991)Agg>Ggg p.R997G NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA. 997 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GGGGGACCCCTGCAGTCCTGG 0.647 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr2:209113112C>T uc002vcs.3 - 3 641 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H NM_005896 NP_005887 O75874 IDHC_HUMAN Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA. 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393 Mis gliobastoma COL18A1 80781 broad.mit.edu 37 21 46925140 46925141 + In_Frame_Ins INS - - GGCCCCCCA TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr21:46925140_46925141insGGCCCCCCA uc002zhi.3 + 33 3522_3523 c.3501_3502insGGCCCCCCA c.(3499-3504)insGGCCCCCCA p.1176_1177insGPP COL18A1_uc002zhg.3_In_Frame_Ins_p.996_997insGPP|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.3_5'UTR|COL18A1_uc002zhk.3_5'Flank NM_030582 NP_085059 P39060 COIA1_HUMAN Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA. 1411 Triple-helical region 5 (COL5). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) AGGGCCCTCCCGGCCCCCCAGG 0.733 GAS2L1 10634 broad.mit.edu 37 22 29707873 29707873 + Missense_Mutation SNP G G A TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr22:29707873G>A uc003afa.1 + 6 1629 c.1430G>A c.(1429-1431)cGc>cAc p.R477H GAS2L1_uc010gvm.1_Intron|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Missense_Mutation_p.R477H|GAS2L1_uc003afd.1_Missense_Mutation_p.A478T|GAS2L1_uc003afe.1_Missense_Mutation_p.A478T NM_152236 NP_689422 Q99501 GA2L1_HUMAN Homo sapiens growth arrest-specific 2 like 1 (GAS2L1), transcript variant 2, mRNA. 478 cell cycle arrest cytoplasm|cytoskeleton endometrium(2)|lung(2)|prostate(1) 5 CCCCGTGCCCGCAGCCCTGCA 0.711 EP300 2033 broad.mit.edu 37 22 41564740 41564740 + Silent SNP A A G TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr22:41564740A>G uc003azl.4 + 24 4436 c.4041A>G c.(4039-4041)ggA>ggG p.G1347G NM_001429 NP_001420 Q09472 EP300_HUMAN Homo sapiens E1A binding protein p300 (EP300), mRNA. 1347 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 TGGACAGTGGAGAGATGGCAG 0.433 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome CHL1 10752 broad.mit.edu 37 3 367748 367748 + Splice_Site SNP G G A TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr3:367748G>A uc003bot.3 + 4 839 c.197_splice c.e4+1 p.T66_splice CHL1_uc003bou.3_Splice_Site_p.T66_splice|CHL1_uc003bow.2_Splice_Site_p.T66_splice|CHL1_uc011asi.2_Splice_Site_p.T66_splice NM_006614 NP_006605 O00533 CHL1_HUMAN Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA. 66 Ig-like C2-type 1. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CAGAACCAACGTGAGTATTGT 0.393 ATP2B2 491 broad.mit.edu 37 3 10491052 10491052 + Missense_Mutation SNP C C T rs149328739 TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr3:10491052C>T uc003bvt.3 - 1 615 c.176G>A c.(175-177)cGc>cAc p.R59H ATP2B2_uc003bvv.3_Missense_Mutation_p.R59H|ATP2B2_uc003bvw.3_Missense_Mutation_p.R59H|ATP2B2_uc010hdp.2_Missense_Mutation_p.R59H NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA. 59 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding p.R59C(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 GGTTTTGAGGCGCCGGCAGAT 0.562 ZNF385D 79750 broad.mit.edu 37 3 21706493 21706493 + Missense_Mutation SNP G G A TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr3:21706493G>A uc003cce.3 - 1 458 c.50C>T c.(49-51)cCg>cTg p.P17L ZNF385D_uc010hfb.1_Intron NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN Homo sapiens zinc finger protein 385D (ZNF385D), mRNA. 17 nucleus nucleic acid binding|zinc ion binding p.L16I(1) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 GACAAGGGCCGGGAGAGCAGG 0.517 TOMM70A 9868 broad.mit.edu 37 3 100105109 100105109 + Missense_Mutation SNP C C T TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr3:100105109C>T uc003dtw.3 - 2 1027 c.578G>A c.(577-579)cGt>cAt p.R193H NM_014820 NP_055635 O94826 TOM70_HUMAN Homo sapiens translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) (TOMM70A), nuclear gene encoding mitochondrial protein, mRNA. 193 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity p.R193C(1) endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 32 GGCTTTTGCACGTCTAAAGAG 0.323 LRRC31 79782 broad.mit.edu 37 3 169572742 169572742 + Missense_Mutation SNP G G T TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr3:169572742G>T uc003fgc.1 - 5 915 c.850C>A c.(850-852)Ctg>Atg p.L284M LRRC31_uc010hwp.1_Missense_Mutation_p.L228M NM_024727 NP_079003 Q6UY01 LRC31_HUMAN Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA. 284 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) AATTTCCTCAGCTCACCCAAA 0.458 PLD1 5337 broad.mit.edu 37 3 171426553 171426553 + Silent SNP T T C TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr3:171426553T>C uc003fhs.3 - 10 1484 c.1137A>G c.(1135-1137)acA>acG p.T379T PLD1_uc003fht.3_Silent_p.T379T NM_002662 NP_002653 Q13393 PLD1_HUMAN Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA. 379 cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) ACCACCAGTCTGTGATAAAAA 0.348 KCTD8 386617 broad.mit.edu 37 4 44176993 44176993 + Silent SNP G G T TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr4:44176993G>T uc003gwu.3 - 1 1520 c.1236C>A c.(1234-1236)ctC>ctA p.L412L NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA. 412 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 GGGTCTGAAAGAGTTCACTGT 0.438 HNSCC(17;0.042) ADAMTS3 9508 broad.mit.edu 37 4 73175150 73175150 + Missense_Mutation SNP C C T TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr4:73175150C>T uc003hgk.2 - 14 2180 c.2143G>A c.(2143-2145)Gtg>Atg p.V715M ADAMTS3_uc003hgl.3_Missense_Mutation_p.V56M NM_014243 NP_055058 O15072 ATS3_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA. 715 Spacer. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding p.V715V(1) NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GTCCCCTTCACGGTTCGGCAG 0.433 UGT3A2 167127 broad.mit.edu 37 5 36048994 36048994 + Silent SNP T T C TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr5:36048994T>C uc003jjz.2 - 3 972 c.840A>G c.(838-840)ccA>ccG p.P280P UGT3A2_uc011cos.2_Silent_p.P246P|UGT3A2_uc011cot.2_Intron NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA. 280 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CACTTACTTGTGGTACTGGTT 0.463 NNT 23530 broad.mit.edu 37 5 43653189 43653189 + Missense_Mutation SNP C C A TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr5:43653189C>A uc003joe.3 + 13 2188 c.1933C>A c.(1933-1935)Cgt>Agt p.R645S NNT_uc003jof.3_Missense_Mutation_p.R645S NM_012343 NP_892022 Q13423 NNTM_HUMAN Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 645 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) GGGAACAGCACGTCTTGGCAA 0.542 GFRAL 389400 broad.mit.edu 37 6 55223736 55223736 + Missense_Mutation SNP A A T TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr6:55223736A>T uc003pcm.1 + 5 838 c.752A>T c.(751-753)aAg>aTg p.K251M NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA. 251 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GTGACTAGAAAGTGCCATGAA 0.393 CCDC146 57639 broad.mit.edu 37 7 76883866 76883866 + Missense_Mutation SNP A A T TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr7:76883866A>T uc003uga.3 + 4 620 c.493A>T c.(493-495)Ata>Tta p.I165L NM_020879 NP_065930 Q8IYE0 CC146_HUMAN Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA. 165 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) ATTTGAGAAGATAACAAAGCC 0.279 SEMA3C 10512 broad.mit.edu 37 7 80387714 80387714 + Missense_Mutation SNP G G C TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr7:80387714G>C uc011kgw.2 - 14 1709 c.1630C>G c.(1630-1632)Ctg>Gtg p.L544V SEMA3C_uc003uhj.3_Missense_Mutation_p.L526V NM_006379 NP_006370 Q99985 SEM3C_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA. 526 immune response|response to drug membrane receptor activity p.P544T(1) NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 TCCCGCGCCAGGCAGCAGTCA 0.522 PCLO 27445 broad.mit.edu 37 7 82532013 82532013 + Silent SNP G G A TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr7:82532013G>A uc003uhx.2 - 8 13771 c.13482C>T c.(13480-13482)caC>caT p.H4494H PCLO_uc003uhv.2_Silent_p.H4494H NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 4425 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTATCCTTGCGTGAGGAAAGA 0.303 FIS1 51024 broad.mit.edu 37 7 100884131 100884131 + Missense_Mutation SNP C C T TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr7:100884131C>T uc003uyj.4 - 2 321 c.235G>A c.(235-237)Gtg>Atg p.V79M CLDN15_uc003uyg.2_5'Flank|CLDN15_uc003uyh.2_5'Flank|FIS1_uc010lht.3_Non-coding_Transcript|FIS1_uc010lhu.3_Non-coding_Transcript NM_016068 NP_057152 Q9Y3D6 FIS1_HUMAN Homo sapiens fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) (FIS1), nuclear gene encoding mitochondrial protein, mRNA. 79 apoptosis|mitochondrial fission|peroxisome fission integral to mitochondrial outer membrane|integral to peroxisomal membrane protein binding kidney(1)|large_intestine(2)|lung(1) 4 Lung NSC(181;0.168)|all_lung(186;0.215) TAGTTCCCCACGGCCAGGTAG 0.602 HIPK2 28996 broad.mit.edu 37 7 139281490 139281490 + Missense_Mutation SNP T T C TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr7:139281490T>C uc003vvf.4 - 11 2961 c.2690A>G c.(2689-2691)gAg>gGg p.E897G HIPK2_uc003vvd.4_Missense_Mutation_p.E870G NM_022740 NP_073577 Q9H2X6 HIPK2_HUMAN Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA. 897 Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with TP53 and TP73.|Interaction with UBE2I (By similarity).|Required for localization to nuclear speckles (By similarity).|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) CTGTTCCTCCTCCTCGTCCGT 0.602 TRPV6 55503 broad.mit.edu 37 7 142571454 142571454 + Missense_Mutation SNP A A G TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr7:142571454A>G uc003wbx.2 - 12 1764 c.1535T>C c.(1534-1536)tTc>tCc p.F512S TRPV6_uc003wbw.1_Missense_Mutation_p.F298S|TRPV6_uc010lou.1_Missense_Mutation_p.F383S NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA. 512 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) CTCTGTCTGGAAGATGATATA 0.597 SLCO5A1 81796 broad.mit.edu 37 8 70594552 70594552 + Missense_Mutation SNP T T C TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr8:70594552T>C uc003xyl.3 - 6 2356 c.1649A>G c.(1648-1650)aAt>aGt p.N550S SLCO5A1_uc010lzb.3_Missense_Mutation_p.N495S|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Missense_Mutation_p.N550S NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA. 550 Kazal-like. integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TCCTGTCAGATTCCTATGGGG 0.403 FBXO43 286151 broad.mit.edu 37 8 101153144 101153144 + Silent SNP T T G TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr8:101153144T>G uc003yjd.3 - 1 2074 c.1338A>C c.(1336-1338)gtA>gtC p.V446V FBXO43_uc003yje.3_Silent_p.V412V|FBXO43_uc010mbp.2_Silent_p.V446V NM_001029860 NP_001025031 Q4G163 FBX43_HUMAN Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA. 446 meiosis zinc ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) ACAGCTCATGTACCAATTGCA 0.433 FZD6 8323 broad.mit.edu 37 8 104337555 104337555 + Silent SNP A A G TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr8:104337555A>G uc003ylh.3 + 3 1511 c.1221A>G c.(1219-1221)caA>caG p.Q407Q FZD6_uc011lhn.2_Silent_p.Q375Q|FZD6_uc003ylj.3_Silent_p.Q407Q|FZD6_uc011lho.2_Silent_p.Q102Q|FZD6_uc011lhp.2_Silent_p.Q352Q NM_001164615 NP_001158088 O60353 FZD6_HUMAN Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA. 407 angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) GCCGGAACCAAGAAAAACTAA 0.408 TTC35 9694 broad.mit.edu 37 8 109468130 109468130 + Missense_Mutation SNP A A G TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr8:109468130A>G uc003ymw.1 + 4 369 c.334A>G c.(334-336)Agg>Ggg p.R112G NM_014673 NP_055488 Q15006 TTC35_HUMAN Homo sapiens tetratricopeptide repeat domain 35 (TTC35), mRNA. 112 endoplasmic reticulum|nucleus binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1) 15 OV - Ovarian serous cystadenocarcinoma(57;2.34e-10) GCTATATGATAGGATTTTACA 0.234 TAF2 6873 broad.mit.edu 37 8 120744252 120744252 + Missense_Mutation SNP T T C TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr8:120744252T>C uc003you.3 - 25 3782 c.3512A>G c.(3511-3513)cAt>cGt p.H1171R NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA. 1171 His-rich.|Lys-rich. G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TTTACTGTCATGCTTATGCTT 0.458 SLC35D2 11046 broad.mit.edu 37 9 99084300 99084300 + Silent SNP G G A TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr9:99084300G>A uc004awc.3 - 10 970 c.894C>T c.(892-894)aaC>aaT p.N298N SLC35D2_uc010msd.3_Non-coding_Transcript|SLC35D2_uc010msf.3_Silent_p.N210N NM_007001 NP_008932 Q76EJ3 S35D2_HUMAN Homo sapiens solute carrier family 35, member D2 (SLC35D2), mRNA. 298 Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity endometrium(3)|large_intestine(3)|lung(4)|skin(2) 12 Acute lymphoblastic leukemia(62;0.0167) ACCCTACAAAGTTTAACAAAG 0.343 RALGDS 5900 broad.mit.edu 37 9 135983521 135983521 + Missense_Mutation SNP G G T TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chr9:135983521G>T uc004cco.3 - 5 1071 c.1051C>A c.(1051-1053)Ctg>Atg p.L351M RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Missense_Mutation_p.L339M|RALGDS_uc004ccr.3_Missense_Mutation_p.L350M|RALGDS_uc011mcv.2_Missense_Mutation_p.L322M|RALGDS_uc004ccs.3_Missense_Mutation_p.L296M|RALGDS_uc011mcw.2_Missense_Mutation_p.L422M|RALGDS_uc004ccv.1_Missense_Mutation_p.L120M|RALGDS_uc004ccu.1_Missense_Mutation_p.L120M NM_006266 NP_006257 Q12967 GNDS_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA. 351 nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) GCTGGCTCCAGCTCTAGAGTT 0.582 T CIITA """PMBL, Hodgkin Lymphona, """ ATRX 546 broad.mit.edu 37 X 76849273 76849273 + Frame_Shift_Del DEL C C - TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chrX:76849273delC uc004ecp.4 - 25 6235 c.6003delG c.(6001-6003)tggfs p.W2001fs ATRX_uc004ecq.4_Frame_Shift_Del_p.W1963fs|ATRX_uc004eco.4_Frame_Shift_Del_p.W1786fs NM_000489 NP_000480 P46100 ATRX_HUMAN Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA. 2001 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AATCTTTGTACCAGTCTGGAG 0.383 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome AFF2 2334 broad.mit.edu 37 X 147733555 147733555 + Missense_Mutation SNP G G T TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d7f2c74-862b-4aad-98e1-fa831f14a905 f191bb9c-1937-40e5-8491-76dede722cdd g.chrX:147733555G>T uc004fcp.3 + 1 562 c.83G>T c.(82-84)aGg>aTg p.R28M AFF2_uc004fco.3_Missense_Mutation_p.R28M|AFF2_uc004fcq.3_Missense_Mutation_p.R28M|AFF2_uc004fcr.3_Missense_Mutation_p.R28M|AFF2_uc011mxb.2_Missense_Mutation_p.R28M|AFF2_uc004fcs.3_Missense_Mutation_p.R28M NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 28 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CTTAAAAAAAGGGAATGGGAG 0.363