Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut SLITRK1 114798 broad.mit.edu 37 13 84455509 84455509 + Missense_Mutation SNP T T C TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr13:84455509T>C uc001vlk.3 - 0 1020 c.134A>G c.(133-135)aAg>aGg p.K45R NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA. 45 LRRNT. integral to membrane p.K45fs*64(2) NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TGTGAAGCCCTTTTTTTCACA 0.463000 3 107 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48453906 48453906 + Missense_Mutation SNP G G C TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr3:48453906G>C uc003csw.2 - 25 5248 c.4978C>G c.(4978-4980)Ctc>Gtc p.L1660V PLXNB1_uc003cst.2_Missense_Mutation_p.L110V|PLXNB1_uc003csu.2_Missense_Mutation_p.L1477V|PLXNB1_uc003csx.2_Missense_Mutation_p.L1660V NM_002673 NP_002664 O43157 PLXB1_HUMAN Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA. 1660 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGGTCACTGAGCAGAGTGCGG 0.607000 38 113 0 0 1 0 0 HMOX2 3163 broad.mit.edu 37 16 4558163 4558163 + Missense_Mutation SNP G G C TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr16:4558163G>C uc010bts.3 + 3 825 c.654G>C c.(652-654)agG>agC p.R218S HMOX2_uc002cwr.4_Missense_Mutation_p.R218S|HMOX2_uc002cwq.4_Missense_Mutation_p.R218S|HMOX2_uc010btt.3_Missense_Mutation_p.R218S|HMOX2_uc002cwt.3_Missense_Mutation_p.R218S NM_001127206 NP_002125 P30519 HMOX2_HUMAN Homo sapiens heme oxygenase (decycling) 2 (HMOX2), transcript variant 4, mRNA. 218 cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport endoplasmic reticulum membrane|microsome|plasma membrane electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 NADH(DB00157) CCAAAGAGAGGATCGTGGAGG 0.522000 29 65 0 0 1 0 0 WDR35 57539 broad.mit.edu 37 2 20132156 20132156 + Missense_Mutation SNP G G T TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr2:20132156G>T uc002rdi.3 - 23 2852 c.2744C>A c.(2743-2745)tCt>tAt p.S915Y WDR35_uc002rdj.3_Missense_Mutation_p.S904Y|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_Intron NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA. 915 breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGCTAACAGAGATCCAATTTC 0.348000 4 88 0 0 1 0 0 SEC63 11231 broad.mit.edu 37 6 108230223 108230223 + Missense_Mutation SNP C C T TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr6:108230223C>T uc003psc.4 - 7 910 c.641G>A c.(640-642)cGc>cAc p.R214H SEC63_uc003psb.4_Missense_Mutation_p.R74H NM_007214 NP_009145 Q9UGP8 SEC63_HUMAN Homo sapiens SEC63 homolog (S. cerevisiae) (SEC63), mRNA. 214 SEC63 1. protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) GCGTATTGAGCGATACCACCA 0.363000 3 32 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82816691 82816691 + Missense_Mutation SNP C C G TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr5:82816691C>G uc003kii.3 + 6 2922 c.2566C>G c.(2566-2568)Ctt>Gtt p.L856V VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.L856V|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN Homo sapiens versican (VCAN), transcript variant 1, mRNA. 856 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TGAATTTACTCTTATTCCAGA 0.408000 40 84 0 0 1 0 0 ARFIP2 23647 broad.mit.edu 37 11 6499070 6499070 + Missense_Mutation SNP G G C TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr11:6499070G>C uc010ran.2 - 6 1138 c.847C>G c.(847-849)Cgg>Ggg p.R283G ARFIP2_uc001mdk.3_Missense_Mutation_p.R250G|ARFIP2_uc010ral.2_Missense_Mutation_p.R212G|ARFIP2_uc010ram.2_Missense_Mutation_p.R165G NM_001242854 NP_001229783 P53365 ARFP2_HUMAN Homo sapiens ADP-ribosylation factor interacting protein 2 (ARFIP2), transcript variant 1, mRNA. 250 AH. actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction cell cortex|plasma membrane|ruffle GTP binding|GTP-dependent protein binding|Rac GTPase binding endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2) 15 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCTGCATCCCGGGGGCCTAGA 0.572000 3 123 0 0 1 0 0 RBM27 54439 broad.mit.edu 37 5 145649072 145649072 + Missense_Mutation SNP G G T TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr5:145649072G>T uc003lnz.4 + 16 2782 c.2616G>T c.(2614-2616)aaG>aaT p.K872N RBM27_uc003lny.2_Missense_Mutation_p.K817N NM_018989 NP_061862 Q9P2N5 RBM27_HUMAN Homo sapiens RNA binding motif protein 27 (RBM27), mRNA. 872 mRNA processing cytoplasm|nuclear speck RNA binding|nucleotide binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTGGAGAGAAGATCTCACAAT 0.299000 3 47 0 0 1 0 0 WDR45L 56270 broad.mit.edu 37 17 80574465 80574465 + Missense_Mutation SNP T T C TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr17:80574465T>C uc002kfq.3 - 8 1058 c.863A>G c.(862-864)aAg>aGg p.K288R WDR45L_uc002kfr.3_Non-coding_Transcript NM_019613 NP_062559 Q5MNZ6 WIPI3_HUMAN Homo sapiens WDR45-like (WDR45L), mRNA. 288 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding breast(2)|central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 12 Breast(20;0.00106)|all_neural(118;0.0952) all_cancers(8;0.101)|all_epithelial(8;0.198) BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835) AACCTGAAACTTGGAGAAACT 0.493000 3 101 0 0 1 0 0 AKNA 80709 broad.mit.edu 37 9 117099483 117099483 + Missense_Mutation SNP C C A TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr9:117099483C>A uc004biq.3 - 20 4306 c.4171G>T c.(4171-4173)Gac>Tac p.D1391Y AKNA_uc004bin.3_Missense_Mutation_p.D638Y|AKNA_uc004bio.3_Missense_Mutation_p.D851Y|AKNA_uc004bip.3_Missense_Mutation_p.D1310Y|AKNA_uc004bir.3_Missense_Mutation_p.D1391Y|AKNA_uc004bis.3_Missense_Mutation_p.D1391Y|AKNA_uc010mve.2_Missense_Mutation_p.D1272Y NM_030767 NP_110394 Q7Z591 AKNA_HUMAN Homo sapiens AT-hook transcription factor (AKNA), mRNA. 1391 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 TCGCCCAGGTCGAGCTGGATG 0.672000 3 80 0 0 1 0 0 MYC 4609 broad.mit.edu 37 8 128752882 128752882 + Missense_Mutation SNP T T C TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr8:128752882T>C uc003ysi.3 + 2 1568 c.1043T>C c.(1042-1044)cTg>cCg p.L348P NM_002467 NP_002458 P01106 MYC_HUMAN Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA. 333 branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) GTCAGAGTCCTGAGACAGATC 0.572000 3 """A, T""" """IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@""" """Burkitt lymphoma, amplified in other cancers, B-CLL""" 3 77 0 0 1 0 0 KAAG1 353219 broad.mit.edu 37 6 24358038 24358038 + Silent SNP C C T TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr6:24358038C>T uc003ndz.1 + 0 908 c.171C>T c.(169-171)tcC>tcT p.S57S DCDC2_uc003ndx.3_5'UTR|DCDC2_uc003ndy.3_5'UTR NM_181337 NP_851854 Q9UBP8 KAAG1_HUMAN Homo sapiens kidney associated antigen 1 (KAAG1), mRNA. 57 immune response central_nervous_system(1)|lung(1)|prostate(1) 3 CTCCGCTGTCCCAGCGGCCTC 0.672000 5 47 0 0 1 0 0 LRRC55 219527 broad.mit.edu 37 11 56950058 56950058 + Missense_Mutation SNP C C G TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr11:56950058C>G uc001njl.2 + 0 838 c.691C>G c.(691-693)Ctg>Gtg p.L231V NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA. 201 LRRCT. integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 CCTACCGGGGCTGGTGACCCT 0.642000 72 138 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160087162 160087162 + Missense_Mutation SNP G G A TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr2:160087162G>A uc002uag.3 + 26 5499 c.5225G>A c.(5224-5226)cGc>cAc p.R1742H TANC1_uc010zcm.2_3'UTR|TANC1_uc010fon.3_Missense_Mutation_p.R586H NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA. 1742 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 CCTCCAAGCCGCAGCTGGCAC 0.582000 4 150 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102509075 102509075 + Missense_Mutation SNP G G A TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr14:102509075G>A uc001yks.2 + 68 12667 c.12503G>A c.(12502-12504)cGg>cAg p.R4168Q NM_001376 NP_001367 Q14204 DYHC1_HUMAN Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA. 4168 AAA 6 (By similarity). G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 CCCGTCTCACGGATATGCAAG 0.577000 35 45 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 994570 994570 + Missense_Mutation SNP C C G TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr12:994570C>G uc021qss.1 + 18 6023 c.5380C>G c.(5380-5382)Cat>Gat p.H1794D WNK1_uc001qio.4_Missense_Mutation_p.H1534D|WNK1_uc021qst.1_Missense_Mutation_p.H1786D|WNK1_uc001qip.4_Missense_Mutation_p.H1287D|WNK1_uc001qir.4_Missense_Mutation_p.H707D NM_001184985 NP_001171914 Q9H4A3 WNK1_HUMAN Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA. 1534 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TAAGACATCTCATAGCAGTAC 0.483000 7 689 0 0 1 0 0 PLCD3 113026 broad.mit.edu 37 17 43197710 43197710 + Silent SNP G G A TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr17:43197710G>A uc002iib.3 - 3 780 c.666C>T c.(664-666)taC>taT p.Y222Y NM_133373 NP_588614 Q8N3E9 PLCD3_HUMAN Homo sapiens phospholipase C, delta 3 (PLCD3), mRNA. 222 EF-hand 2. intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) GGAGGTAGGCGTACATGTCGT 0.577000 3 30 0 0 1 0 0 DOCK7 85440 broad.mit.edu 37 1 63113974 63113974 + Missense_Mutation SNP G G A TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr1:63113974G>A uc001daq.3 - 5 569 c.535C>T c.(535-537)Cgt>Tgt p.R179C DOCK7_uc001dan.3_Missense_Mutation_p.R71C|DOCK7_uc001dao.3_Missense_Mutation_p.R71C|DOCK7_uc001dap.3_Missense_Mutation_p.R179C|DOCK7_uc009wah.1_Missense_Mutation_p.R179C NM_033407 NP_212132 Q96N67 DOCK7_HUMAN Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA. 179 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 GACATTGAACGTCTTTTAAGG 0.299000 25 74 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 105261745 105261745 + Missense_Mutation SNP A A G TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr8:105261745A>G uc003yls.3 + 25 3915 c.3674A>G c.(3673-3675)aAg>aGg p.K1225R RIMS2_uc003ylp.3_Missense_Mutation_p.K1207R|RIMS2_uc003ylw.2_Missense_Mutation_p.K1214R|RIMS2_uc003ylq.3_Missense_Mutation_p.K1021R|RIMS2_uc003ylr.3_Missense_Mutation_p.K1046R NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA. 1269 intracellular protein transport cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) ATGGACAAAAAGGGACAGCTG 0.403000 HNSCC(12;0.0054) 3 81 0 0 1 0 0 PDZD7 79955 broad.mit.edu 37 10 102778754 102778754 + Frame_Shift_Del DEL C C - TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr10:102778754delC uc021pxc.1 - 7 1399 c.1149delG c.(1147-1149)tggfs p.W383fs PDZD7_uc001ksn.3_Frame_Shift_Del_p.W383fs|PDZD7_uc001kso.2_Frame_Shift_Del_p.W383fs NM_001195263 NP_001182192 Q9H5P4 PDZD7_HUMAN Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 1, mRNA. 383 cilium|nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) GCACGCTGCACCAGGTCTCCA 0.741 OREG0020453 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- ---