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 ENTPD8 377841 broad.mit.edu 37 9 140332516 140332516 + Silent SNP C C A TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr9:140332516C>A uc004cmw.3 - 2 331 c.147G>T c.(145-147)gcG>gcT p.A49A ENTPD8_uc004cmx.3_Silent_p.A49A|ENTPD8_uc004cmy.2_Silent_p.A49A NM_001033113 NP_001028285 Q5MY95 ENTP8_HUMAN Homo sapiens ectonucleoside triphosphate diphosphohydrolase 8 (ENTPD8), transcript variant 1, mRNA. 49 integral to membrane|plasma membrane ATP binding biliary_tract(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898) GGGAGGAGCCCGCATCAAACA 0.647000 3 40 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133218793 133218793 + Missense_Mutation SNP C C G TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr12:133218793C>G uc001uks.1 - 37 5187 c.5143G>C c.(5143-5145)Gag>Cag p.E1715Q POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.E519Q|POLE_uc010tbq.1_Non-coding_Transcript NM_006231 NP_006222 Q07864 DPOE1_HUMAN Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA. 1715 DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CTGTTGATCTCAACAGTGGCT 0.557000 DNA polymerases (catalytic subunits) 5 237 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 45 82 0 0 1 0 0 FAM208A 23272 broad.mit.edu 37 3 56681126 56681126 + Missense_Mutation SNP C C A rs144722652 byFrequency TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr3:56681126C>A uc003did.4 - 13 1740 c.1639G>T c.(1639-1641)Gcc>Tcc p.A547S FAM208A_uc003dic.4_Missense_Mutation_p.A151S|FAM208A_uc003die.4_Missense_Mutation_p.A547S NM_015224 NP_056039 Q9UK61 CC063_HUMAN Homo sapiens family with sequence similarity 208, member A (FAM208A), transcript variant 2, mRNA. 547 NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1) 32 AAATTTATGGCGCTTATATTT 0.328000 3 65 0 0 1 0 0 SOX30 11063 broad.mit.edu 37 5 157078329 157078329 + Missense_Mutation SNP G G A TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr5:157078329G>A uc003lxb.1 - 0 1100 c.758C>T c.(757-759)cCg>cTg p.P253L SOX30_uc003lxc.1_Missense_Mutation_p.P253L|SOX30_uc011dds.1_Intron NM_178424 NP_848511 O94993 SOX30_HUMAN Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA. 253 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTGCTGGTGCGGCCCAAAGGC 0.647000 3 42 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70840993 70840993 + Missense_Mutation SNP C C T TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr5:70840993C>T uc003kbp.1 + 31 6954 c.6691C>T c.(6691-6693)Ccc>Tcc p.P2231S BDP1_uc003kbo.3_Missense_Mutation_p.P2231S|BDP1_uc003kbq.1_Non-coding_Transcript|BDP1_uc003kbr.1_Non-coding_Transcript NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA. 2231 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TGTTGAAGAGCCCCAGATAAA 0.468000 22 78 0 0 1 0 0 G2E3 55632 broad.mit.edu 37 14 31061616 31061616 + Missense_Mutation SNP C C G TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr14:31061616C>G uc001wqk.2 + 4 479 c.325C>G c.(325-327)Cag>Gag p.Q109E G2E3_uc010tpe.1_Missense_Mutation_p.Q63E|G2E3_uc010tpf.1_Missense_Mutation_p.Q63E NM_017769 NP_060239 Q7L622 G2E3_HUMAN Homo sapiens G2/M-phase specific E3 ubiquitin protein ligase (G2E3), mRNA. 109 apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 ATGTGGACTTCAGAGAGAATG 0.353000 3 76 0 0 1 0 0 C2orf42 54980 broad.mit.edu 37 2 70408980 70408980 + Silent SNP T T A TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr2:70408980T>A uc002sgh.3 - 2 466 c.138A>T c.(136-138)acA>acT p.T46T NM_017880 NP_060350 Q9NWW7 CB042_HUMAN Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA. 46 endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 12 TGGTTCCACATGTCTTGTTCT 0.493000 4 145 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14861821 14861821 + Missense_Mutation SNP G G A TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr3:14861821G>A uc003bzc.3 + 0 1353 c.1243G>A c.(1243-1245)Gtc>Atc p.V415I FGD5_uc011avk.2_Missense_Mutation_p.V415I NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA. 415 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape Golgi apparatus|cytoskeleton|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 TGATGTGGTGGTCGTGCTGGA 0.682000 3 54 0 0 1 0 0 MKL2 57496 broad.mit.edu 37 16 14304130 14304130 + Missense_Mutation SNP C C T TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr16:14304130C>T uc010uza.2 + 3 340 c.185C>T c.(184-186)aCg>aTg p.T62M MKL2_uc002dcg.3_Missense_Mutation_p.T62M|MKL2_uc002dch.3_Missense_Mutation_p.T51M|MKL2_uc010uzb.2_Missense_Mutation_p.T11M NM_014048 NP_054767 Q9ULH7 MKL2_HUMAN Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA. 51 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CAAAGGAGGACGAGAGAACAA 0.483000 5 116 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 36985887 36985887 + Missense_Mutation SNP A A G TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr5:36985887A>G uc003jkl.4 + 9 3104 c.2605A>G c.(2605-2607)Aaa>Gaa p.K869E NIPBL_uc003jkk.4_Missense_Mutation_p.K869E|NIPBL_uc003jkm.1_Missense_Mutation_p.K748E NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA. 869 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) ACTAGAACGAAAACACAGGCA 0.398000 7 75 0 0 1 0 0 NLGN4Y 22829 broad.mit.edu 37 Y 16734111 16734111 + Missense_Mutation SNP C C G TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chrY:16734111C>G uc011nas.1 + 1 291 c.112C>G c.(112-114)Ctc>Gtc p.L38V NLGN4Y_uc004fte.2_Intron|NLGN4Y_uc004ftg.2_Missense_Mutation_p.L38V|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Missense_Mutation_p.L38V|NLGN4Y_uc004fti.4_Missense_Mutation_p.L38V NM_001206850 NP_001193779 Q8NFZ3 NLGNY_HUMAN Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA. 38 brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|integral to plasma membrane|synapse neurexin binding|receptor activity large_intestine(3)|lung(7)|prostate(2)|skin(2) 14 CAAGTTCACCCTCATTGACAG 0.463000 5 66 0 0 1 0 0 MYO1B 4430 broad.mit.edu 37 2 192234339 192234339 + Silent SNP C C A TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr2:192234339C>A uc010fsg.2 + 11 1359 c.1104C>A c.(1102-1104)atC>atA p.I368I MYO1B_uc002usq.2_Silent_p.I368I|MYO1B_uc002usr.2_Silent_p.I368I NM_001130158 NP_001155291 O43795 MYO1B_HUMAN Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA. 368 Myosin head-like. myosin complex ATP binding|actin binding|calmodulin binding|motor activity p.R367*(2) NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) TAAATCGAATCAATGAAAGCA 0.299000 4 106 0 0 1 0 0 NADSYN1 55191 broad.mit.edu 37 11 71185490 71185490 + Missense_Mutation SNP G G A TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr11:71185490G>A uc001oqn.3 + 8 842 c.716G>A c.(715-717)cGc>cAc p.R239H NADSYN1_uc001oqm.3_Non-coding_Transcript|NADSYN1_uc001oqo.3_5'UTR NM_018161 NP_060631 Q6IA69 NADE_HUMAN Homo sapiens NAD synthetase 1 (NADSYN1), mRNA. 239 CN hydrolase. NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|NAD+ synthase (glutamine-hydrolyzing) activity|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 25 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GACGGGGACCGCCTGTACTAC 0.562000 8 122 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204192635 204192635 + Frame_Shift_Del DEL G G - TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr1:204192635delG uc001hau.3 - 21 3427 c.3110delC c.(3109-3111)ccafs p.P1037fs NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA. 1037 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GGCGCCCCGTGGGGATTCAGA 0.592 2 4 --- --- --- ---