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 MRPL3 11222 broad.mit.edu 37 3 131190117 131190117 + Silent SNP A A C TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr3:131190117A>C ENST00000264995.3 - 7 783 c.636T>G c.(634-636)ggT>ggG p.G212G MRPL3_ENST00000425847.2_Silent_p.G239G NM_007208.3 NP_009139.1 P09001 RM03_HUMAN mitochondrial ribosomal protein L3 212 translation mitochondrial large ribosomal subunit RNA binding|structural constituent of ribosome endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 10 GAAAACCTTTACCAATACTGA 0.403000 3 77 0 0 0.150653 0 0 SNHG14 0 broad.mit.edu 37 15 25318336 25318336 + RNA SNP G G A TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr15:25318336G>A ENST00000549804.2 + 0 817 SNORD116-9_ENST00000384000.1_RNA|SNHG14_ENST00000551077.1_RNA CGTTCTCATCGGAACTGAGGT 0.453000 12 155 0 0 0.411799 0 0 VAV1 7409 broad.mit.edu 37 19 6833209 6833209 + Missense_Mutation SNP C C T TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr19:6833209C>T ENST00000304076.2 + 16 1617 c.1523C>T c.(1522-1524)cCg>cTg p.P508L VAV1_ENST00000539284.1_Missense_Mutation_p.P411L|VAV1_ENST00000602142.1_Missense_Mutation_p.P508L|VAV1_ENST00000599806.1_Missense_Mutation_p.P453L|VAV1_ENST00000596764.1_Missense_Mutation_p.P476L NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 508 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 AACATCTATCCGGAGAATGCC 0.438000 16 28 0 0 0.500413 0 0 NOP2 4839 broad.mit.edu 37 12 6675419 6675419 + Missense_Mutation SNP C C A TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr12:6675419C>A ENST00000541778.1 - 5 798 c.310G>T c.(310-312)Gca>Tca p.A104S NOP2_ENST00000399466.2_Missense_Mutation_p.A104S|NOP2_ENST00000382421.3_Missense_Mutation_p.A108S|NOP2_ENST00000322166.5_Missense_Mutation_p.A108S|NOP2_ENST00000545200.1_Missense_Mutation_p.A104S|NOP2_ENST00000537442.1_Missense_Mutation_p.A108S|NOP2_ENST00000542015.1_Intron P46087 NOP2_HUMAN NOP2 nucleolar protein 108 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 19 CTGCCAGGTGCTGGGCGCTTC 0.557000 4 50 0.00909568 0.00953937 0.150653 1 0 PRTG 283659 broad.mit.edu 37 15 55965643 55965643 + Missense_Mutation SNP G G T TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr15:55965643G>T ENST00000389286.4 - 10 1825 c.1778C>A c.(1777-1779)gCt>gAt p.A593D NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 593 Fibronectin type-III 2. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TCTGGTGGCAGCAGTAATCCG 0.498000 3 54 0.115264 0.118008 0.115264 1 0 RREB1 6239 broad.mit.edu 37 6 7229828 7229828 + Missense_Mutation SNP C C T TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr6:7229828C>T ENST00000379938.2 + 10 2033 c.1496C>T c.(1495-1497)gCg>gTg p.A499V RREB1_ENST00000349384.6_Missense_Mutation_p.A499V|RREB1_ENST00000379933.3_Missense_Mutation_p.A499V|RREB1_ENST00000334984.6_Missense_Mutation_p.A499V NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 499 Pro-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CCACTGCAGGCGATCTTCAAG 0.642000 37 211 0 0 0.853193 0 0 CACNA1G 8913 broad.mit.edu 37 17 48703623 48703623 + Silent SNP A A G TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr17:48703623A>G ENST00000352832.5 + 34 6636 c.6264A>G c.(6262-6264)ttA>ttG p.L2088L CACNA1G_ENST00000515165.1_Silent_p.L2122L|CACNA1G_ENST00000514717.1_Silent_p.L2065L|CACNA1G_ENST00000514181.1_Silent_p.L2097L|CACNA1G_ENST00000514079.1_Silent_p.L2129L|CACNA1G_ENST00000354983.4_Silent_p.L2181L|CACNA1G_ENST00000442258.2_Silent_p.L2081L|CACNA1G_ENST00000513964.1_Silent_p.L2077L|CACNA1G_ENST00000507510.2_Silent_p.L2170L|CACNA1G_ENST00000510366.1_Silent_p.L2070L|CACNA1G_ENST00000502264.1_Silent_p.L2144L|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000429973.2_Silent_p.L2104L|CACNA1G_ENST00000507609.1_Silent_p.L2115L|CACNA1G_ENST00000503485.1_Silent_p.L2088L|CACNA1G_ENST00000359106.5_Silent_p.L2215L|CACNA1G_ENST00000507336.1_Silent_p.L2204L|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000360761.4_Silent_p.L2099L|CACNA1G_ENST00000512389.1_Silent_p.L2111L|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000513689.2_Silent_p.L2125L|CACNA1G_ENST00000515765.1_Silent_p.L2159L|CACNA1G_ENST00000510115.1_Silent_p.L2136L|CACNA1G_ENST00000515411.1_Silent_p.L2152L NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 2215 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GAAGCAGCTTAGAGTTGGACA 0.642000 OREG0024569 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 24 0 0 0.479597 0 0 KIT 3815 broad.mit.edu 37 4 55573431 55573431 + Missense_Mutation SNP T T A TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr4:55573431T>A ENST00000288135.5 + 6 1190 c.1093T>A c.(1093-1095)Tct>Act p.S365T NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 365 Ig-like C2-type 4. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TTATCCCAAGTCTGAGAATGA 0.403000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 18 44 0 0 0.608945 0 0 OR4M1 441670 broad.mit.edu 37 14 20248557 20248557 + Missense_Mutation SNP G G T TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr14:20248557G>T ENST00000315957.4 + 1 157 c.76G>T c.(76-78)Gtc>Ttc p.V26F NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGTCCAACTAGTCCTATTTGT 0.388000 29 276 4.40665e-25 5.41388e-25 0.740014 1 0 FSTL5 56884 broad.mit.edu 37 4 162577517 162577517 + Missense_Mutation SNP T T C TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr4:162577517T>C ENST00000306100.5 - 7 1293 c.857A>G c.(856-858)aAt>aGt p.N286S FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Missense_Mutation_p.N285S|FSTL5_ENST00000427802.2_Missense_Mutation_p.N285S|FSTL5_ENST00000536695.1_Missense_Mutation_p.N285S NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 286 Ig-like 1. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TAGAATAATATTGTTCCTTTT 0.353000 13 22 0 0 0.435327 0 0 ALPK1 80216 broad.mit.edu 37 4 113352721 113352721 + Missense_Mutation SNP C C A TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr4:113352721C>A ENST00000458497.1 + 11 2297 c.2018C>A c.(2017-2019)cCc>cAc p.P673H ALPK1_ENST00000177648.9_Missense_Mutation_p.P673H|ALPK1_ENST00000504176.2_Missense_Mutation_p.P595H NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 673 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) CCCTTGACACCCTTCTCGCCT 0.493000 14 42 3.52763e-06 3.99179e-06 0.520397 1 0 LAMA3 3909 broad.mit.edu 37 18 21474271 21474271 + Missense_Mutation SNP A A T TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr18:21474271A>T ENST00000313654.9 + 43 5661 c.5420A>T c.(5419-5421)aAc>aTc p.N1807I LAMA3_ENST00000269217.6_Missense_Mutation_p.N198I|LAMA3_ENST00000399516.3_Missense_Mutation_p.N1807I|LAMA3_ENST00000587184.1_Missense_Mutation_p.N198I NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1807 Domain III A.|Laminin EGF-like 15; truncated. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GACTGCATAAACCAAGAACCC 0.378000 4 54 0 0 0.217242 0 0 SSTR2 0 broad.mit.edu 37 17 71166516 71166516 + Missense_Mutation SNP C C G TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr17:71166516C>G ENST00000357585.2 + 2 1427 c.1058C>G c.(1057-1059)aCc>aGc p.T353S SSTR2_ENST00000315332.2_Intron|RP11-143K11.5_ENST00000580671.1_RNA NM_001050.2 NP_001041.1 P30874 SSR2_HUMAN somatostatin receptor 2 353 digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity endometrium(2)|large_intestine(5)|lung(2)|prostate(2) 11 LUSC - Lung squamous cell carcinoma(166;0.197) CTGAATGAGACCACGGAGACC 0.547000 11 53 0 0 0.361761 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 5 86 0 0 0.184627 0 0 MCC 4163 broad.mit.edu 37 5 112439958 112439958 + Silent SNP G G T rs142794653 byFrequency TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr5:112439958G>T ENST00000302475.4 - 5 1115 c.552C>A c.(550-552)tcC>tcA p.S184S MCC_ENST00000515367.2_Silent_p.S121S|MCC_ENST00000408903.3_Silent_p.S374S|MCC_ENST00000514701.3_5'UTR NM_002387.2 NP_002378.1 P23508 CRCM_HUMAN mutated in colorectal cancers 184 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) CCTCGGCCACGGAGAGGCTGC 0.572000 24 101 2.49675e-24 2.98223e-24 0.717897 1 0 OR2H2 7932 broad.mit.edu 37 6 29556084 29556084 + Silent SNP C C T TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr6:29556084C>T ENST00000383640.2 + 1 402 c.363C>T c.(361-363)taC>taT p.Y121Y GABBR1_ENST00000355973.3_Intron NM_007160.3 NP_009091.3 O95918 OR2H2_HUMAN olfactory receptor, family 2, subfamily H, member 2 121 defense response|mating|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 14 TTGATCGCTACGTGGCTGTCT 0.577000 4 82 0 0 0.150653 0 0 ZNF208 7757 broad.mit.edu 37 19 22155223 22155223 + Silent SNP T T C TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr19:22155223T>C ENST00000397126.4 - 4 2761 c.2613A>G c.(2611-2613)aaA>aaG p.K871K ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 p.K771K(2)|p.K871K(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TTGAGGGCCATTTATAGGCTT 0.373000 3 51 0 0 0.115264 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 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(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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 0.393000 Mis gliobastoma 34 55 0 0 0.804634 0 0 GPR115 221393 broad.mit.edu 37 6 47682356 47682356 + Missense_Mutation SNP A A G TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr6:47682356A>G ENST00000283303.2 + 6 1633 c.1375A>G c.(1375-1377)Ata>Gta p.I459V GPR115_ENST00000371220.1_Missense_Mutation_p.I516V|GPR115_ENST00000327753.3_Missense_Mutation_p.I459V NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 459 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 GTGGTTTATCATAGGCTCTCA 0.458000 21 307 0 0 0.608945 0 0 RUFY2 55680 broad.mit.edu 37 10 70141155 70141155 + Splice_Site SNP T T C TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr10:70141155T>C ENST00000388768.2 - 11 1372 c.1044_splice c.e11-1 p.D349_splice RUFY2_ENST00000454950.2_Splice_Site_p.D256_splice|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000602465.1_Splice_Site_p.D314_splice|RUFY2_ENST00000399200.2_Splice_Site_p.D280_splice NM_017987.4 NP_060457.4 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 363 nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 ATTCTCTACATCCTGCAATTT 0.358000 76 116 0 0 0.870114 0 0 ANGPTL1 9068 broad.mit.edu 37 1 178820268 178820268 + Missense_Mutation SNP T T G TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr1:178820268T>G ENST00000234816.2 - 6 1919 c.1472A>C c.(1471-1473)gAc>gCc p.D491A RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.D491A|RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367634.2_Intron NM_004673.3 NP_004664.1 O95841 ANGL1_HUMAN angiopoietin-like 1 491 Fibrinogen C-terminal. extracellular space receptor binding breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 CTCTCTTCAGTCAATAGGCTT 0.388000 3 58 0 0 0.115264 0 0 RETNLB 84666 broad.mit.edu 37 3 108475916 108475916 + Silent SNP G G T TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr3:108475916G>T ENST00000295755.6 - 1 315 c.117C>A c.(115-117)ctC>ctA p.L39L NM_032579.2 NP_115968.1 Q9BQ08 RETNB_HUMAN resistin like beta 39 cell proliferation extracellular region hormone activity endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1) 16 CTAGACTGTTGAGAACATCCT 0.498000 4 19 0.00024832 0.000266944 0.150653 1 0 KRTAP10-7 386675 broad.mit.edu 37 21 46020984 46020984 + Missense_Mutation SNP C C T TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr21:46020984C>T ENST00000380102.2 + 1 488 c.463C>T c.(463-465)Ccc>Tcc p.P155S TSPEAR_ENST00000323084.4_Intron NM_198689.2 NP_941962.1 P60409 KR107_HUMAN keratin associated protein 10-7 155 30 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 CACCTCCTCCCCCTGCCAGCA 0.592000 19 37 0 0 0.667858 0 0 FUT8 2530 broad.mit.edu 37 14 66136042 66136042 + Missense_Mutation SNP G G A TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr14:66136042G>A ENST00000360689.5 + 7 2406 c.679G>A c.(679-681)Gtg>Atg p.V227M FUT8_ENST00000394585.1_Missense_Mutation_p.V227M|FUT8_ENST00000557164.1_Missense_Mutation_p.V64M|FUT8_ENST00000394586.2_Missense_Mutation_p.V227M|FUT8_ENST00000358307.2_Missense_Mutation_p.V98M|FUT8_ENST00000554765.1_3'UTR NM_004480.4|NM_178155.2 NP_004471.4|NP_835368.1 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 227 in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) GCTCCATCATGTGGTCTACTG 0.473000 4 58 0 0 0.150653 0 0 IQGAP1 8826 broad.mit.edu 37 15 91030731 91030731 + Missense_Mutation SNP A A G TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr15:91030731A>G ENST00000268182.5 + 33 4289 c.4165A>G c.(4165-4167)Aaa>Gaa p.K1389E IQGAP1_ENST00000560738.1_Missense_Mutation_p.K817E NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1389 C2. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) TTTCAGTACAAAACGTTTAAT 0.463000 7 20 0 0 0.248553 0 0 FXYD7 53822 broad.mit.edu 37 19 35642241 35642241 + Missense_Mutation SNP A A G TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr19:35642241A>G ENST00000588265.1 + 3 201 c.146A>G c.(145-147)gAc>gGc p.D49G FXYD7_ENST00000270310.2_Intron|FXYD7_ENST00000586063.1_Intron P58549 FXYD7_HUMAN FXYD domain containing ion transport regulator 7 46 integral to membrane ion channel activity NS(1)|endometrium(1)|lung(1) 3 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849) AGTAAGTGCGACCCATTCCTG 0.532000 5 66 0 0 0.184627 0 0 UBLCP1 134510 broad.mit.edu 37 5 158697549 158697549 + Missense_Mutation SNP C C A TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr5:158697549C>A ENST00000296786.6 + 5 672 c.346C>A c.(346-348)Ctg>Atg p.L116M NM_145049.3 NP_659486.2 Q8WVY7 UBCP1_HUMAN ubiquitin-like domain containing CTD phosphatase 1 116 nucleus phosphoprotein phosphatase activity endometrium(1)|kidney(3)|large_intestine(4)|ovary(1) 9 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGAAAACCTACTGAAAATTTC 0.333000 9 79 1.12685e-05 1.24243e-05 0.307466 1 0 RXRG 6258 broad.mit.edu 37 1 165389141 165389141 + Missense_Mutation SNP T T A TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr1:165389141T>A ENST00000359842.5 - 3 710 c.408A>T c.(406-408)aaA>aaT p.K136N RXRG_ENST00000470566.1_5'UTR NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma 136 Modulating (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) CACAGATGTGTTTAACCAGAG 0.537000 4 61 0 0 0.150653 0 0 FLG 2312 broad.mit.edu 37 1 152282972 152282972 + Missense_Mutation SNP C C G TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr1:152282972C>G ENST00000368799.1 - 3 4425 c.4390G>C c.(4390-4392)Gga>Cga p.G1464R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1464 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTTGTCTTCCTCCAGTGCTG 0.572000 Ichthyosis 16 199 0 0 0.500413 0 0 NF1 4763 broad.mit.edu 37 17 29663350 29663350 + Splice_Site SNP G G C TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr17:29663350G>C ENST00000358273.4 + 41 6389 c.e41-1 NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000581113.2_Splice_Site NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(5) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TCTTCAACTAGATTACAGATC 0.328000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 4 68 0 0 0.248553 0 0 DDX24 57062 broad.mit.edu 37 14 94528925 94528925 + Missense_Mutation SNP G G A TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr14:94528925G>A ENST00000330836.5 - 3 892 c.761C>T c.(760-762)gCg>gTg p.A254V DDX24_ENST00000555054.1_Missense_Mutation_p.A211V|DDX24_ENST00000544005.1_Missense_Mutation_p.A4V NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 254 Helicase ATP-binding. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CTGCAACACCGCATGAATCAT 0.458000 20 70 0 0 0.608945 0 0 FSTL5 56884 broad.mit.edu 37 4 162577525 162577525 + Missense_Mutation SNP T T A rs61746784 TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr4:162577525T>A ENST00000306100.5 - 7 1285 c.849A>T c.(847-849)aaA>aaT p.K283N FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Missense_Mutation_p.K282N|FSTL5_ENST00000427802.2_Missense_Mutation_p.K282N|FSTL5_ENST00000536695.1_Missense_Mutation_p.K282N NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 283 Ig-like 1. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TATTGTTCCTTTTCCAGATAA 0.353000 14 27 0 0 0.457914 0 0 ATAD2 29028 broad.mit.edu 37 8 124368657 124368657 + Translation_Start_Site SNP G G A TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr8:124368657G>A ENST00000521903.1 - 0 1982 ATAD2_ENST00000287394.5_Missense_Mutation_p.R540W Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CTGCTTGACCGTACTGGAGCC 0.418000 5 45 0 0 0.184627 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147914572 147914572 + Missense_Mutation SNP G G C TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr7:147914572G>C ENST00000361727.3 + 19 3719 c.3203G>C c.(3202-3204)aGc>aCc p.S1068T CNTNAP2_ENST00000538075.1_Missense_Mutation_p.S127T NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1068 Laminin G-like 4. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CTCTACATCAGCTCCTTCACC 0.557000 HNSCC(39;0.1) 5 95 0 0 0.184627 0 0 PTX4 390667 broad.mit.edu 37 16 1537926 1537926 + Missense_Mutation SNP C C T rs150305846 byFrequency TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr16:1537926C>T ENST00000447419.2 - 2 212 c.187G>A c.(187-189)Gcc>Acc p.A63T PTX4_ENST00000440447.2_Missense_Mutation_p.A63T|PTX4_ENST00000293922.1_Missense_Mutation_p.A58T Q96A99 PTX4_HUMAN pentraxin 4, long 63 extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 TAGTTGCTGGCGATGTTCTGC 0.647000 6 151 0 0 0.248553 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806608 97806608 + Missense_Mutation SNP G G A TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr3:97806608G>A ENST00000358642.2 + 1 592 c.592G>A c.(592-594)Gca>Aca p.A198T NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A198T(2) endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 ATCTATTAACGCACTAATGAT 0.289000 24 30 0 0 0.639603 0 0 FUBP1 8880 broad.mit.edu 37 1 78444677 78444678 + Frame_Shift_Del DEL AT AT - TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr1:78444677_78444678delAT ENST00000370767.1 - 1 98_99 c.11_12delAT c.(10-12)tfs p.Y4fs FUBP1_ENST00000436586.2_Frame_Shift_Del_p.Y4fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.Y4fs Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 4 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 GCACTGTTGAATAGTCTGCCAT 0.559 """F, N""" oligodendroglioma 10 7 --- --- --- --- FRMD4B 23150 broad.mit.edu 37 3 69230517 69230518 + Frame_Shift_Del DEL TT TT - TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr3:69230517_69230518delTT ENST00000542259.1 - 22 2672_2673 c.2221_2222delAA c.(2221-2223)gfs p.K741fs FRMD4B_ENST00000398540.3_Frame_Shift_Del_p.K795fs|FRMD4B_ENST00000478263.1_Frame_Shift_Del_p.K447fs Q9Y2L6 FRM4B_HUMAN FERM domain containing 4B 795 cytoplasm|cytoskeleton binding NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2) 19 Lung NSC(201;0.0138)|Prostate(884;0.11) BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182) CTCCTGACTCTTTGAGTAAACA 0.446 11 49 --- --- --- --- GXYLT2 727936 broad.mit.edu 37 3 73024258 73024258 + Frame_Shift_Del DEL G G - TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr3:73024258delG ENST00000389617.4 + 7 1441 c.1280delG c.(1279-1281)agfs p.R427fs NM_001080393.1 NP_001073862.1 A0PJZ3 GXLT2_HUMAN glucoside xylosyltransferase 2 427 O-glycan processing integral to membrane UDP-xylosyltransferase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 ACAATGAAAAGGGCTTATGAG 0.413 9 88 --- --- --- --- ADH1C 126 broad.mit.edu 37 4 100261040 100261041 + RNA INS - - A rs138827617 by1000genomes TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr4:100261040_100261041insA ENST00000515683.1 - 0 1316 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) AGTGCTTTCACAAAAAAAATCA 0.327 4 2 --- --- --- --- C8orf47 203111 broad.mit.edu 37 8 99101783 99101784 + Frame_Shift_Ins INS - - A TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr8:99101783_99101784insA ENST00000318528.3 + 2 897_898 c.538_539insA c.(538-540)aacfs p.N180fs C8orf47_ENST00000545282.1_Intron NM_173549.2 NP_775820.2 Q6P6B1 CH047_HUMAN chromosome 8 open reading frame 47 180 kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2) 13 Breast(36;2.31e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) TGAGAATCCACAAACTGCTGCA 0.520 10 28 --- --- --- --- KRT3 3850 broad.mit.edu 37 12 53187894 53187896 + Splice_Site DEL CTT CTT - TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr12:53187894_53187896delCTT ENST00000417996.2 - 2 939_941 c.866_splice c.e2+1 p.289_splice KRT3_ENST00000309505.3_Splice_Site_p.289_splice NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 289 Coil 1B.|Rod. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 CTGTCACTCACTTCTTCTTGAAG 0.591 10 123 --- --- --- --- FBXW10 10517 broad.mit.edu 37 17 18653309 18653310 + Frame_Shift_Ins INS - - T TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr17:18653309_18653310insT ENST00000308799.4 + 3 1164_1165 c.945_946insT c.(943-948)atttttfs p.IF315fs FBXW10_ENST00000395667.1_Intron|FBXW10_ENST00000301938.4_Intron|FBXW10_ENST00000395665.4_Intron Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 293 F-box. NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 CTGGGTCCATCTTTTTTTTTCC 0.535 7 132 --- --- --- --- C17orf62 79415 broad.mit.edu 37 17 80402421 80402423 + In_Frame_Del DEL CTC CTC - TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr17:80402421_80402423delCTC ENST00000437807.2 - 7 660_662 c.343_345delGAG c.(343-345)del p.E115del C17orf62_ENST00000578913.1_In_Frame_Del_p.E115del|C17orf62_ENST00000434650.2_In_Frame_Del_p.E101del|C17orf62_ENST00000578919.1_In_Frame_Del_p.E115del|C17orf62_ENST00000585080.1_In_Frame_Del_p.E115del|C17orf62_ENST00000585064.1_In_Frame_Del_p.E115del|C17orf62_ENST00000342572.8_5'UTR|C17orf62_ENST00000577436.1_In_Frame_Del_p.E101del|C17orf62_ENST00000577732.1_In_Frame_Del_p.E115del|C17orf62_ENST00000306645.5_In_Frame_Del_p.E115del|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000583617.1_In_Frame_Del_p.E115del NM_001193653.1|NM_001193657.1 NP_001180582.1|NP_001180586.1 Q9BQA9 CQ062_HUMAN chromosome 17 open reading frame 62 115 integral to membrane protein binding breast(2)|large_intestine(2)|skin(2)|urinary_tract(2) 8 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) ACCGGACCTTCTCCTCCTCCACG 0.655 7 67 --- --- --- --- SS18 6760 broad.mit.edu 37 18 23632625 23632626 + Frame_Shift_Del DEL AT AT - TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678aeec7-2b41-46fc-b4c9-0c9f6b2018bb 60cfef6e-ae32-4680-83e6-f969464d5805 g.chr18:23632625_23632626delAT ENST00000415083.2 - 5 624_625 c.569_570delAT c.(568-570)tfs p.Y190fs SS18_ENST00000269137.7_Frame_Shift_Del_p.Y190fs|SS18_ENST00000539849.1_Frame_Shift_Del_p.Y108fs|SS18_ENST00000542420.2_Frame_Shift_Del_p.Y167fs|SS18_ENST00000545952.1_Frame_Shift_Del_p.Y138fs|SS18_ENST00000542743.1_Frame_Shift_Del_p.Y138fs|SS18_ENST00000585241.1_5'UTR NM_001007559.1|NM_005637.2 NP_001007560.1|NP_005628.2 Q15532 SSXT_HUMAN synovial sarcoma translocation, chromosome 18 190 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12) endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1) 19 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) GTCTGGGACCATAGTTTCCCAT 0.426 T """SSX1, SSX2""" synovial sarcoma 32 127 --- --- --- ---