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 CHEK2 11200 broad.mit.edu 37 22 29091787 29091787 + Nonsense_Mutation SNP G G C TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr22:29091787G>C uc003adt.1 - 11 1371 c.1299C>G c.(1297-1299)taC>taG p.Y433* CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Nonsense_Mutation_p.Y169*|CHEK2_uc010gvh.1_Nonsense_Mutation_p.Y299*|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adu.1_Nonsense_Mutation_p.Y390*|CHEK2_uc003adv.1_Nonsense_Mutation_p.Y361*|CHEK2_uc003adx.1_Nonsense_Mutation_p.Y169* NM_001005735 NP_001005735 O96017 CHK2_HUMAN Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 3, mRNA. 390 Protein kinase. DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CAGGCGCCAAGTAGGTGGGGG 0.423000 F breast Direct reversal of damage;Other conserved DNA damage response genes 8 95 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231135315 231135315 + Missense_Mutation SNP G G A TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr2:231135315G>A uc002vql.3 + 14 1574 c.1459G>A c.(1459-1461)Gca>Aca p.A487T SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Missense_Mutation_p.A373T|SP140_uc002vqm.3_Missense_Mutation_p.A427T|SP140_uc010fxl.3_Missense_Mutation_p.A460T NM_007237 NP_009168 Q13342 LY10_HUMAN Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA. 487 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TGTGGATATTGCAAACAACTC 0.308000 12 141 0 0 1 0 0 GYS1 2997 broad.mit.edu 37 19 49488755 49488755 + Silent SNP G G A TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr19:49488755G>A uc002plp.3 - 4 1027 c.786C>T c.(784-786)acC>acT p.T262T GYS1_uc010emm.3_Silent_p.T198T|GYS1_uc010xzz.2_Silent_p.T182T|GYS1_uc010yaa.1_Non-coding_Transcript NM_002103 NP_002094 P13807 GYS1_HUMAN Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA. 262 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) CCTCGATGGCGGTGATCTGGG 0.582000 3 74 0 0 1 0 0 PSMB7 5695 broad.mit.edu 37 9 127177679 127177679 + Missense_Mutation SNP G G A rs143961480 TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr9:127177679G>A uc004boj.3 - 0 43 c.26C>T c.(25-27)cCa>cTa p.P9L PSMB7_uc010mwm.3_Missense_Mutation_p.P9L NM_002799 NP_002790 Q99436 PSB7_HUMAN Homo sapiens proteasome (prosome, macropain) subunit, beta type, 7 (PSMB7), mRNA. 9 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1) 5 TCCAACTGGTGGAGCATACAC 0.607000 OREG0019476 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 76 0 0 1 0 0 XRN2 22803 broad.mit.edu 37 20 21346221 21346221 + Missense_Mutation SNP G G A TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr20:21346221G>A uc002wsf.1 + 25 2430 c.2335G>A c.(2335-2337)Gca>Aca p.A779T XRN2_uc002wsg.1_Missense_Mutation_p.A703T|XRN2_uc010zsk.1_Missense_Mutation_p.A725T NM_012255 NP_036387 Q9H0D6 XRN2_HUMAN Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA. 779 DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5) 39 AAAGCCAGCAGCAGTACTGAA 0.438000 3 103 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155796629 155796629 + Splice_Site SNP C C T TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr1:155796629C>T uc001flz.2 - 3 794 c.697_splice c.e3+1 p.E233_splice GON4L_uc001fly.1_Splice_Site_p.E233_splice|GON4L_uc009wrh.1_Splice_Site_p.E233_splice|GON4L_uc001fma.1_Splice_Site_p.E233_splice|GON4L_uc001fmc.3_Splice_Site_p.E233_splice|GON4L_uc001fmd.4_Splice_Site_p.E233_splice|GON4L_uc009wri.3_Splice_Site|GON4L_uc001fme.3_Splice_Site_p.E61_splice NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA. 233 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) AAAGCCTACCCATTGGAATGA 0.383000 5 77 0 0 1 0 0 PTCH1 5727 broad.mit.edu 37 9 98229625 98229625 + Missense_Mutation SNP G G A TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr9:98229625G>A uc004avk.4 - 14 2521 c.2333C>T c.(2332-2334)aCg>aTg p.T778M PTCH1_uc010mro.3_Missense_Mutation_p.T627M|PTCH1_uc010mrp.3_Missense_Mutation_p.T627M|PTCH1_uc010mrq.3_Missense_Mutation_p.T627M|PTCH1_uc004avl.4_Missense_Mutation_p.T627M|PTCH1_uc004avm.4_Missense_Mutation_p.T777M|PTCH1_uc010mrr.3_Missense_Mutation_p.T712M|LOC100507346_uc022bkm.1_Non-coding_Transcript NM_000264 NP_001077076 Q13635 PTC1_HUMAN Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA. 778 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.T778M(3)|p.T778T(1)|p.T777M(1) NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) TACAATGTCCGTAAGGTCCAG 0.473000 4 152 0 0 1 0 0 E2F3 1871 broad.mit.edu 37 6 20402610 20402610 + Silent SNP C C T TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr6:20402610C>T uc003nda.2 + 0 474 c.147C>T c.(145-147)gcC>gcT p.A49A E2F3_uc003ncz.2_Silent_p.A49A|E2F3_uc021ymj.1_5'Flank NM_001949 NP_001940 O00716 E2F3_HUMAN Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA. 49 Poly-Ala. G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3) 7 all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148) OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562) ccgccgccgccgctgccgccg 0.741000 3 75 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr1:115256529T>C uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 85 172 0 0 1 0 0 DIRAS2 54769 broad.mit.edu 37 9 93375575 93375575 + Missense_Mutation SNP C C A TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr9:93375575C>A uc004aqx.1 - 1 646 c.535G>T c.(535-537)Gac>Tac p.D179Y DIRAS2_uc022bjs.1_Missense_Mutation_p.D179Y NM_017594 NP_060064 Q96HU8 DIRA2_HUMAN Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA. 179 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity p.D179N(2)|p.I178I(1)|p.I178V(1) kidney(1)|large_intestine(6)|lung(3)|skin(2) 12 TTTTTCCCGTCGATCTGGAGA 0.547000 3 58 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140768722 140768722 + Missense_Mutation SNP A A G TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr5:140768722A>G uc003lkc.2 + 0 1271 c.1271A>G c.(1270-1272)gAt>gGt p.D424G PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR NM_003736 NP_003727 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA. 428 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGGCAACAGATCGGGGCAAG 0.448000 7 191 0 0 1 0 0 KIAA0895L 653319 broad.mit.edu 37 16 67211930 67211930 + Silent SNP G G A TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr16:67211930G>A uc002ert.3 - 5 2069 c.1234C>T c.(1234-1236)Ctg>Ttg p.L412L KIAA0895L_uc002err.3_Intron|KIAA0895L_uc002ers.3_Silent_p.L257L|KIAA0895L_uc002eru.3_Silent_p.C408C NM_001040715 NP_001035805 Q68EN5 K895L_HUMAN Homo sapiens KIAA0895-like (KIAA0895L), mRNA. 412 breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1) 17 AGTGAGGTCAGCAACGGGAAA 0.607000 3 88 0 0 1 0 0 PDE1A 5136 broad.mit.edu 37 2 183387037 183387037 + Missense_Mutation SNP G G T TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr2:183387037G>T uc002uoq.1 - 0 217 c.67C>A c.(67-69)Cag>Aag p.Q23K PDE1A_uc010zfp.1_5'UTR|PDE1A_uc010zfq.1_Missense_Mutation_p.Q23K|PDE1A_uc002uos.3_Missense_Mutation_p.Q23K|PDE1A_uc002uov.1_Non-coding_Transcript NM_005019 NP_005010 P54750 PDE1A_HUMAN Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 1, mRNA. 23 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) TTTTCAGTCTGTTCTCCTGTA 0.398000 23 123 0 0 1 0 0 PRPF3 9129 broad.mit.edu 37 1 150307507 150307507 + Missense_Mutation SNP G G A TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr1:150307507G>A uc001eum.4 + 6 992 c.830G>A c.(829-831)cGc>cAc p.R277H PRPF3_uc009wlp.2_Non-coding_Transcript|PRPF3_uc010pca.2_Missense_Mutation_p.R236H|PRPF3_uc010pcb.2_Missense_Mutation_p.R228H|PRPF3_uc009wlq.1_Non-coding_Transcript NM_004698 NP_004689 O43395 PRPF3_HUMAN Homo sapiens PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (PRPF3), mRNA. 277 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding p.R277C(1) breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) CTGACACACCGCATGCCTACT 0.458000 3 51 0 0 1 0 0 PRPF38B 55119 broad.mit.edu 37 1 109235326 109235326 + Missense_Mutation SNP C C T TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr1:109235326C>T uc001dvv.4 + 0 395 c.113C>T c.(112-114)gCg>gTg p.A38V PRPF38B_uc001dvw.4_5'UTR|PRPF38B_uc010ouz.2_5'UTR NM_018061 NP_060531 Q5VTL8 PR38B_HUMAN Homo sapiens PRP38 pre-mRNA processing factor 38 (yeast) domain containing B (PRPF38B), transcript variant 1, mRNA. 38 RNA splicing|mRNA processing spliceosomal complex NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1) 19 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161) ACCAAGCCGGCGGTCTCCGGC 0.667000 4 49 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 94858758 94858758 + Splice_Site SNP G G A TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr15:94858758G>A uc002btj.3 + 3 594 c.529_splice c.e3-1 p.V177_splice MCTP2_uc010urg.1_Splice_Site_p.V177_splice|MCTP2_uc002bti.2_Splice_Site_p.V177_splice|MCTP2_uc010boj.3_Splice_Site|MCTP2_uc010bok.3_Splice_Site_p.V177_splice|MCTP2_uc002btg.4_Splice_Site_p.V177_splice|MCTP2_uc002bth.4_Splice_Site_p.V177_splice NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA. 177 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) ATCTGTGCAGGTACCGGGGGA 0.512000 3 39 0 0 1 0 0 KDM6B 23135 broad.mit.edu 37 17 7750709 7750709 + Missense_Mutation SNP G G C TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr17:7750709G>C uc002giw.1 + 9 1572 c.1196G>C c.(1195-1197)aGc>aCc p.S399T KDM6B_uc002gix.3_5'Flank NM_001080424 NP_001073893 O15054 KDM6B_HUMAN Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA. 399 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.S399T(2) central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 ACCACCACcagcagcagcagt 0.672000 4 167 0 0 1 0 0 CELF2 10659 broad.mit.edu 37 10 11299727 11299727 + Missense_Mutation SNP G G A TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr10:11299727G>A uc001ikk.2 + 4 590 c.430G>A c.(430-432)Gga>Aga p.G144R CELF2_uc010qbi.2_5'UTR|CELF2_uc010qbj.1_Missense_Mutation_p.G137R|CELF2_uc001iki.4_Missense_Mutation_p.G137R|CELF2_uc001ikl.4_Missense_Mutation_p.G144R|CELF2_uc010qbk.1_Non-coding_Transcript|CELF2_uc010qbl.1_Missense_Mutation_p.G113R|CELF2_uc010qbm.1_5'UTR|CELF2_uc001iko.4_Missense_Mutation_p.G113R|CELF2_uc001ikp.4_Missense_Mutation_p.G113R|CELF2_uc009xiw.1_3'UTR|CELF2_uc010qbo.1_Missense_Mutation_p.G26R|CELF2_uc010qbp.1_5'UTR NM_001083591 NP_001077060 O95319 CELF2_HUMAN Homo sapiens CUGBP, Elav-like family member 2 (CELF2), transcript variant 4, mRNA. 137 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. mRNA processing|regulation of heart contraction cytoplasm|nucleus RNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 ATTGTTCATAGGAATGGTATC 0.418000 10 72 0 0 1 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130825338 130825338 + Missense_Mutation SNP C C A TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr5:130825338C>A uc003kvp.2 - 15 2033 c.1891G>T c.(1891-1893)Gta>Tta p.V631L RAPGEF6_uc003kvo.2_Missense_Mutation_p.V581L|RAPGEF6_uc010jdi.2_Missense_Mutation_p.V581L|RAPGEF6_uc010jdj.2_Missense_Mutation_p.V581L|RAPGEF6_uc003kvn.2_Missense_Mutation_p.V581L|RAPGEF6_uc003kvq.3_Missense_Mutation_p.V298L|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Missense_Mutation_p.V581L|RAPGEF6_uc010jdk.3_Missense_Mutation_p.V581L NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA. 581 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) TGTCCATTTACTTCCATAATC 0.259000 3 34 0 0 1 0 0 QPRT 23475 broad.mit.edu 37 16 29708392 29708392 + Missense_Mutation SNP G G A rs147793931 byFrequency TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr16:29708392G>A uc002dto.3 + 2 703 c.625G>A c.(625-627)Gtg>Atg p.V209M BOLA2_uc010bzb.1_Intron|QPRT_uc010vdu.2_Non-coding_Transcript NM_014298 NP_055113 Q15274 NADC_HUMAN Homo sapiens quinolinate phosphoribosyltransferase (QPRT), mRNA. 209 protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process cytosol nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 Niacin(DB00627) GCAGGAGGCCGTGCAGGCAGC 0.657000 3 31 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12734288 12734288 + Missense_Mutation SNP A A G TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chrX:12734288A>G uc004cuz.2 + 14 2216 c.1710A>G c.(1708-1710)atA>atG p.I570M FRMPD4_uc011mij.2_Missense_Mutation_p.I562M NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA. 570 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 AAGCCCAGATAACATACATAG 0.468000 10 201 0 0 1 0 0 PNCK 139728 broad.mit.edu 37 X 152936612 152936612 + Silent SNP G G A TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chrX:152936612G>A uc011myu.2 - 7 1083 c.897C>T c.(895-897)agC>agT p.S299S PNCK_uc011myt.2_Silent_p.S233S|PNCK_uc004fhz.4_Silent_p.S114S|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.2_3'UTR|PNCK_uc011myw.2_3'UTR NM_001039582 NP_001034671 Q6P2M8 KCC1B_HUMAN Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA. 216 Calmodulin-binding (By similarity). cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|lung(3)|skin(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCTCAGGGTCGCTCTCGTCGT 0.602000 51 124 0 0 1 0 0 UBASH3B 84959 broad.mit.edu 37 11 122680513 122680513 + Silent SNP G G A TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr11:122680513G>A uc001pyi.4 + 13 2229 c.1869G>A c.(1867-1869)caG>caA p.Q623Q NM_032873 NP_116262 Q8TF42 UBS3B_HUMAN Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA. 623 Protein tyrosine phosphatase (By similarity). cytoplasm|nucleus protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2) 26 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) GAATATGGCAGCTGACAGATC 0.443000 3 110 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4824425 4824425 + Splice_Site SNP G G C TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr3:4824425G>C uc003bqc.3 + 49 6815 c.6465_splice c.e49+1 p.Q2155_splice ITPR1_uc021wsi.1_Splice_Site_p.Q2122_splice|ITPR1_uc021wsj.1_Splice_Site_p.Q2107_splice|ITPR1_uc011asu.2_Intron NM_001168272 NP_001161744 Q14643 ITPR1_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA. 2170 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) TAGCCCATCAGGTATGATCTC 0.527000 4 42 0 0 1 0 0 GEMIN5 25929 broad.mit.edu 37 5 154315560 154315560 + Missense_Mutation SNP C C A TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr5:154315560C>A uc003lvx.3 - 2 433 c.350G>T c.(349-351)tGg>tTg p.W117L GEMIN5_uc011ddk.1_Missense_Mutation_p.W117L NM_015465 NP_056280 Q8TEQ6 GEMI5_HUMAN Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA. 117 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TCGAGGAGACCAATGTAATGT 0.328000 8 41 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20389468 20389468 + Missense_Mutation SNP A A C TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr14:20389468A>C uc010tkw.2 + 0 703 c.703A>C c.(703-705)Aag>Cag p.K235Q NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA. 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A234P(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGCAATGGCAAAGGCATTTTC 0.418000 21 541 0 0 1 0 0 DISC1 27185 broad.mit.edu 37 1 231885806 231885806 + Missense_Mutation SNP C C T TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr1:231885806C>T uc010pxh.2 + 4 1401 c.1348C>T c.(1348-1350)Cgt>Tgt p.R450C DISC1_uc010pwf.2_3'UTR|DISC1_uc010pwj.1_Missense_Mutation_p.R407C|DISC1_uc010pwk.1_Missense_Mutation_p.R407C|DISC1_uc010pwg.1_Missense_Mutation_p.R407C|DISC1_uc010pwh.1_Missense_Mutation_p.R373C|DISC1_uc010pwi.1_Missense_Mutation_p.R373C|DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pwp.2_Missense_Mutation_p.R418C|DISC1_uc010pwo.2_3'UTR|DISC1_uc010pwq.2_Missense_Mutation_p.R418C|DISC1_uc010pwr.1_Missense_Mutation_p.R418C|DISC1_uc010pws.1_Missense_Mutation_p.R418C|DISC1_uc010pwt.1_Missense_Mutation_p.R418C|DISC1_uc010pwu.1_Missense_Mutation_p.R68C|DISC1_uc010pwv.2_Non-coding_Transcript|DISC1_uc010pwx.2_Intron|DISC1_uc010pww.2_Missense_Mutation_p.R418C|DISC1_uc001huy.3_Missense_Mutation_p.R418C|DISC1_uc010pwy.2_Non-coding_Transcript|DISC1_uc010pwz.2_Non-coding_Transcript|DISC1_uc010pxa.2_Non-coding_Transcript|DISC1_uc010pxb.1_Missense_Mutation_p.R418C|DISC1_uc010pxc.1_Missense_Mutation_p.R418C|DISC1_uc010pxe.2_Missense_Mutation_p.R418C|DISC1_uc010pxf.2_Missense_Mutation_p.R418C|DISC1_uc010pxg.2_Missense_Mutation_p.R418C|DISC1_uc010pxd.2_Missense_Mutation_p.R63C|DISC1_uc009xfr.3_Missense_Mutation_p.R373C|DISC1_uc010pxn.1_Missense_Mutation_p.R63C|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Intron|DISC1_uc010pxj.1_Missense_Mutation_p.R63C|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Missense_Mutation_p.R418C|DISC1_uc001huz.3_Missense_Mutation_p.R418C|DISC1_uc001hva.3_Missense_Mutation_p.R418C NM_001164537 NP_001158009 Q9NRI5 DISC1_HUMAN Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA. 418 Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci. Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) TGCCTTGCGCCGTGGGGCCAC 0.527000 5 94 0 0 1 0 0 SLC12A4 6560 broad.mit.edu 37 16 67979074 67979074 + Missense_Mutation SNP C C A TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr16:67979074C>A uc010vkj.1 - 21 3128 c.3088G>T c.(3088-3090)Gtc>Ttc p.V1030F LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Missense_Mutation_p.V1022F|SLC12A4_uc010vkh.1_Missense_Mutation_p.V997F|SLC12A4_uc002euz.2_Missense_Mutation_p.V1028F|SLC12A4_uc010vki.1_Missense_Mutation_p.V1022F|SLC12A4_uc002eva.2_Missense_Mutation_p.V1028F NM_001145962 NP_001139434 Q9UP95 S12A4_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA. 1028 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) GTGACAATGACTTCATTGAGC 0.577000 4 146 0 0 1 0 0 Mir_320 0 broad.mit.edu 37 9 4378426 4378427 + RNA INS - - T TCGA-BJ-A3PT-01A-12D-A21Z-08 TCGA-BJ-A3PT-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d1b350-92cd-4a94-91f6-68734dd228f7 ca1e236e-e01e-44f2-931b-0840aa54a37f g.chr9:4378426_4378427insT uc022bcy.1 - 0 c.79_80insA Rfam model RF00736 hit found at contig region AL162419.34/133298-133217 GTTTGTTTATATTTTTTTCTTT 0.307 2 4 --- --- --- ---