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 STPG2 285555 broad.mit.edu 37 4 99030364 99030364 + Silent SNP T T C TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr4:99030364T>C ENST00000295268.3 - 4 569 c.480A>G c.(478-480)ccA>ccG p.P160P NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 p.P160P(1) CATACTGTCCTGGACCAGGAC 0.333000 3 76 0 0 0.009096 0 0 APBB3 10307 broad.mit.edu 37 5 139939911 139939911 + Missense_Mutation SNP T T A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr5:139939911T>A ENST00000357560.4 - 12 1654 c.1211A>T c.(1210-1212)cAg>cTg p.Q404L APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000508496.2_Missense_Mutation_p.Q181L|APBB3_ENST00000354402.5_Missense_Mutation_p.Q411L|APBB3_ENST00000412920.3_Missense_Mutation_p.Q402L|APBB3_ENST00000356738.2_Missense_Mutation_p.Q409L NM_006051.3|NM_133173.2 NP_006042.3|NP_573419.2 O95704 APBB3_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 3 404 PID 2. actin cytoskeleton|cytoplasm p.Q411L(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAGGCAGCCTGCACAGCTTC 0.617000 3 64 0 0 0.115264 0 0 IGKV1D-8 0 broad.mit.edu 37 2 90260172 90260172 + RNA SNP A A G TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr2:90260172A>G ENST00000471857.1 + 0 456 TCTGGGACAGATTTCACTCTC 0.478000 26 170 0 0 0.091800 0 0 PGM3 5238 broad.mit.edu 37 6 83898366 83898366 + Missense_Mutation SNP T T A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr6:83898366T>A ENST00000513973.1 - 3 472 c.356A>T c.(355-357)cAa>cTa p.Q119L PGM3_ENST00000512866.1_Missense_Mutation_p.Q119L|PGM3_ENST00000506587.1_Missense_Mutation_p.Q147L|PGM3_ENST00000283977.4_Missense_Mutation_p.Q38L NM_001199918.1|NM_015599.2 NP_001186847.1|NP_056414.1 O95394 AGM1_HUMAN phosphoglucomutase 3 119 dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity p.Q119L(1) NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 18 all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068) BRCA - Breast invasive adenocarcinoma(397;0.0478) AAAGGCATCTTGTTGCAGATT 0.398000 5 81 0 0 0.038147 0 0 NLRP3 114548 broad.mit.edu 37 1 247587215 247587215 + Missense_Mutation SNP G G A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr1:247587215G>A ENST00000366497.2 + 4 1250 c.470G>A c.(469-471)cGt>cAt p.R157H NLRP3_ENST00000391827.2_Missense_Mutation_p.R157H|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.R157H|NLRP3_ENST00000348069.2_Missense_Mutation_p.R157H|NLRP3_ENST00000366496.2_Missense_Mutation_p.R157H|NLRP3_ENST00000391828.3_Missense_Mutation_p.R157H NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 157 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.R157H(2) NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AGGAATGCCCGTCTGGGTGAG 0.522000 5 34 0 0 0.014758 0 0 GLUD1P2 0 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 6 24 0 0 0.029380 0 0 GOLGA3 2802 broad.mit.edu 37 12 133351742 133351742 + Silent SNP G G A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr12:133351742G>A ENST00000204726.3 - 22 4686 c.4128C>T c.(4126-4128)cgC>cgT p.R1376R GOLGA3_ENST00000456883.2_Silent_p.R1376R|GOLGA3_ENST00000450791.2_Silent_p.R1376R NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1376 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity p.R1376R(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) TGGCCGCGCCGCGGCGTAGGT 0.587000 6 57 0 0 0.029380 0 0 CLDN7 1366 broad.mit.edu 37 17 7163815 7163815 + Missense_Mutation SNP A A C TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr17:7163815A>C ENST00000360325.7 - 4 948 c.514T>G c.(514-516)Tct>Gct p.S172A CLDN7_ENST00000538261.3_Silent_p.G143G|RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000397317.4_Missense_Mutation_p.S172A NM_001307.5 NP_001298.3 O95471 CLD7_HUMAN claudin 7 172 calcium-independent cell-cell adhesion integral to membrane|lateral plasma membrane|tight junction identical protein binding|structural molecule activity p.S172A(1) kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 6 ACTAGGGCAGACCCTGCCCAG 0.572000 10 19 0 0 0.080935 0 0 ZFP28 140612 broad.mit.edu 37 19 57065989 57065989 + Missense_Mutation SNP C C T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr19:57065989C>T ENST00000301318.3 + 8 1906 c.1835C>T c.(1834-1836)aCt>aTt p.T612I AC007228.11_ENST00000596587.1_RNA NM_020828.1 NP_065879.1 Q8NHY6 ZFP28_HUMAN ZFP28 zinc finger protein 612 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T612I(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 35 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) AGGATTCATACTGGGGAGAAG 0.428000 9 138 0 0 0.058154 0 0 SREBF2 6721 broad.mit.edu 37 22 42264696 42264696 + Missense_Mutation SNP A A T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr22:42264696A>T ENST00000361204.4 + 3 786 c.620A>T c.(619-621)cAg>cTg p.Q207L NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 207 Gln-rich. cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding p.Q207L(1) NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 CAGACAGTACAGGCCCAGCGG 0.612000 14 28 0 0 0.119110 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 7 39 0 0 0.029380 0 0 SLC24A6 0 broad.mit.edu 37 12 113748079 113748079 + Missense_Mutation SNP A A C TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr12:113748079A>C ENST00000552014.1 - 13 1732 c.1217T>G c.(1216-1218)tTt>tGt p.F406C SLC24A6_ENST00000546737.1_Missense_Mutation_p.F350C|SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000202831.3_Missense_Mutation_p.F406C Q6J4K2 NCKX6_HUMAN 406 response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity p.F406C(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1) 16 TGTGGCAAAAAAGGTCACTGA 0.587000 5 82 0 0 0.014758 0 0 MED13 9969 broad.mit.edu 37 17 60028344 60028344 + Missense_Mutation SNP G G A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr17:60028344G>A ENST00000397786.2 - 28 6209 c.6133C>T c.(6133-6135)Cgg>Tgg p.R2045W NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 2045 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.R2045W(2) breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GATAGTAGCCGATCAGTACTC 0.383000 6 45 0 0 0.021553 0 0 OR5L2 26338 broad.mit.edu 37 11 55595260 55595260 + Missense_Mutation SNP G G T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr11:55595260G>T ENST00000378397.1 + 1 566 c.566G>T c.(565-567)tGc>tTc p.C189F NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C189F(1) breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) AGTCTTGCTTGCTCTGATGTC 0.448000 HNSCC(27;0.073) 54 117 6.32628e-17 8.22416e-17 0.139131 1 0 HGF 3082 broad.mit.edu 37 7 81346562 81346562 + Missense_Mutation SNP C C T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr7:81346562C>T ENST00000222390.5 - 11 1617 c.1391G>A c.(1390-1392)tGc>tAc p.C464Y HGF_ENST00000457544.2_Missense_Mutation_p.C459Y NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 464 Kringle 4. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity p.C464Y(1) NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 AGAAATAGGGCAATAATCCCA 0.383000 8 72 0 0 0.047766 0 0 EXOC2 55770 broad.mit.edu 37 6 491185 491185 + Splice_Site SNP G G A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr6:491185G>A ENST00000230449.4 - 26 2696 c.2559_splice c.e26-1 p.A854_splice EXOC2_ENST00000448181.3_Splice_Site_p.A449_splice NM_018303.4 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 854 exocytosis|protein transport p.A854V(1) breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) TTCAAGTCTCGCCTGAAAATG 0.393000 28 130 0 0 0.116897 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977358 29977358 + RNA SNP T T C rs146982767 by1000genomes TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr6:29977358T>C ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA GATTTGTTCATGCCTTCCCTT 0.448000 3 49 0 0 0.115264 0 0 IGHV4OR15-8 0 broad.mit.edu 37 15 22473333 22473333 + RNA SNP A A G TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr15:22473333A>G ENST00000557788.2 - 0 20 CCAGGAGGAGAAAGAACCACA 0.512000 3 113 0 0 0.009096 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(3)|p.Q2742Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcaacagcagcagc 0.602000 3 72 0 0 0.115264 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713944 142713944 + RNA SNP C C T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr1:142713944C>T ENST00000369381.2 - 0 661 TGATTACCTCCGAAGTTAAAG 0.308000 4 27 0 0 0.009096 0 0 ITGBL1 9358 broad.mit.edu 37 13 102359193 102359193 + Missense_Mutation SNP C C T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr13:102359193C>T ENST00000376180.3 + 9 1439 c.1220C>T c.(1219-1221)aCg>aTg p.T407M ITGBL1_ENST00000376162.3_Missense_Mutation_p.T314M|ITGBL1_ENST00000545560.2_Missense_Mutation_p.T266M NM_001271756.1|NM_004791.1 NP_001258685.1|NP_004782.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) 407 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity p.T407M(1) breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGTAACATGACGGAAGAACAA 0.517000 7 139 0 0 0.038147 0 0 IFT57 55081 broad.mit.edu 37 3 107885800 107885800 + Silent SNP A A G rs143767161 TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr3:107885800A>G ENST00000264538.3 - 8 1129 c.882T>C c.(880-882)acT>acC p.T294T IFT57_ENST00000468021.1_5'UTR NM_018010.3 NP_060480.1 Q9NWB7 IFT57_HUMAN intraflagellar transport 57 homolog (Chlamydomonas) 294 activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cilium|microtubule basal body DNA binding|protein binding p.T294T(1) kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 14 OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246) CCAAAGTCCTAGTAATTTCAT 0.358000 9 26 0 0 0.058154 0 0 UIMC1 51720 broad.mit.edu 37 5 176396017 176396017 + Missense_Mutation SNP C C A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr5:176396017C>A ENST00000377219.2 - 6 905 c.739G>T c.(739-741)Gtc>Ttc p.V247F UIMC1_ENST00000511320.1_Missense_Mutation_p.V247F|UIMC1_ENST00000377227.4_Missense_Mutation_p.V247F|UIMC1_ENST00000506128.1_Intron NM_016290.4 NP_057374.3 Q96RL1 UIMC1_HUMAN ubiquitin interaction motif containing 1 247 V -> C (in Ref. 3; AAG59851). double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent BRCA1-A complex histone binding|K63-linked polyubiquitin binding p.V247F(1) NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 21 all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) Medulloblastoma(196;0.0145)|all_neural(177;0.0325) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTACCCTGGACAGCTTTGAGA 0.527000 6 145 3.59834e-05 4.318e-05 0.021553 1 0 FARSB 10056 broad.mit.edu 37 2 223507640 223507640 + Missense_Mutation SNP C C T rs139085353 by1000genomes TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr2:223507640C>T ENST00000281828.6 - 3 462 c.199G>A c.(199-201)Gtc>Atc p.V67I FARSB_ENST00000536361.1_5'UTR NM_005687.3 NP_005678.3 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 67 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding p.V67I(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) TTGGCAGGGACGTCAATTTTG 0.388000 13 27 0 0 0.132662 0 0 FRG1B 0 broad.mit.edu 37 20 29625891 29625891 + Silent SNP C C G TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr20:29625891C>G ENST00000278882.3 + 5 515 c.135C>G c.(133-135)ggC>ggG p.G45G FRG1B_ENST00000358464.4_Silent_p.G45G|FRG1B_ENST00000439954.2_Silent_p.G50G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGAAATCTGGCTATGGAAAAT 0.343000 3 104 0 0 0.009096 0 0 TUBB2B 347733 broad.mit.edu 37 6 3226894 3226894 + Missense_Mutation SNP C C A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr6:3226894C>A ENST00000259818.7 - 2 258 c.67G>T c.(67-69)Gtc>Ttc p.V23F TUBB2B_ENST00000473006.1_5'UTR NM_178012.4 NP_821080.1 Q9BVA1 TBB2B_HUMAN tubulin, beta 2B class IIb 23 'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity p.V23F(1) kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1) 10 Ovarian(93;0.0386) all_hematologic(90;0.108) TCACTGATGACCTCCCAAAAC 0.498000 15 158 2.31682e-05 2.82363e-05 0.132662 1 0 TCN2 6948 broad.mit.edu 37 22 31022486 31022486 + Missense_Mutation SNP A A T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr22:31022486A>T ENST00000215838.3 + 9 1756 c.1262A>T c.(1261-1263)gAg>gTg p.E421V TCN2_ENST00000405742.3_Missense_Mutation_p.E417V|TCN2_ENST00000407817.3_Missense_Mutation_p.E394V P20062 TCO2_HUMAN transcobalamin II 421 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding p.E421V(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1) 22 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAAACCATTGAGCTGAGGCTG 0.567000 13 50 0 0 0.146539 0 0 HIPK2 28996 broad.mit.edu 37 7 139268747 139268747 + Silent SNP G G A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr7:139268747G>A ENST00000406875.3 - 13 2875 c.2781C>T c.(2779-2781)tcC>tcT p.S927S HIPK2_ENST00000342645.6_Silent_p.S827S|HIPK2_ENST00000428878.2_Silent_p.S900S NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 927 Interaction with TP53 and TP73.|Required for localization to nuclear speckles (By similarity). apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding p.S927S(1) breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) TGGAGGAGTCGGAGTAGGGGG 0.547000 4 87 0 0 0.009096 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr16:90161902A>G ENST00000567960.1 + 0 638 TUBB8P7_ENST00000564451.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 7 40 0 0 0.047766 0 0 ABCB10 23456 broad.mit.edu 37 1 229666037 229666037 + Silent SNP C C T rs140426197 byFrequency TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr1:229666037C>T ENST00000344517.4 - 8 1596 c.1554G>A c.(1552-1554)ccG>ccA p.P518P NM_012089.2 NP_036221.2 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 10 518 ABC transporter. integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity p.P518P(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2) 31 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) CAGATCCTGACGGAATGGAAA 0.507000 11 131 0 0 0.069234 0 0 ARHGEF25 115557 broad.mit.edu 37 12 58004061 58004061 + Missense_Mutation SNP G G A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr12:58004061G>A ENST00000333972.7 + 1 99 c.62G>A c.(61-63)gGc>gAc p.G21D NM_001111270.2 NP_001104740.1 Q86VW2 ARHGP_HUMAN Rho guanine nucleotide exchange factor (GEF) 25 0 regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity p.G21D(1) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 28 GTCATGGGGGGCATGCTGCGC 0.701000 4 29 0 0 0.021553 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 7 14 0 0 0.029380 0 0 SBK2 646643 broad.mit.edu 37 19 56041233 56041233 + Missense_Mutation SNP C C T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr19:56041233C>T ENST00000413299.1 - 4 951 c.914G>A c.(913-915)cGg>cAg p.R305Q SBK2_ENST00000344158.3_Missense_Mutation_p.R305Q NM_001101401.2 NP_001094871.2 P0C263 SBK2_HUMAN SH3 domain binding kinase family, member 2 305 Protein kinase. ATP binding|protein serine/threonine kinase activity p.R305Q(3) endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 CAGCAGCCCCCGCAGAAGCGC 0.741000 4 26 0 0 0.009096 0 0 SLC4A2 6522 broad.mit.edu 37 7 150773232 150773232 + Missense_Mutation SNP G G A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr7:150773232G>A ENST00000485713.1 + 22 4644 c.3604G>A c.(3604-3606)Gtg>Atg p.V1202M RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000413384.2_Missense_Mutation_p.V1202M|SLC4A2_ENST00000310317.5_Missense_Mutation_p.V1120M|SLC4A2_ENST00000461735.1_Missense_Mutation_p.V1188M|SLC4A2_ENST00000392826.2_Missense_Mutation_p.V1193M NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 1202 Membrane (anion exchange). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity p.V1202M(1) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCTCCGCATGGTGGTGCTCAC 0.627000 6 137 0 0 0.029380 0 0 POTEF 728378 broad.mit.edu 37 2 130832500 130832500 + Missense_Mutation SNP T T C TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr2:130832500T>C ENST00000357462.5 - 15 2638 c.2545A>G c.(2545-2547)Act>Gct p.T849A POTEF_ENST00000409914.2_Missense_Mutation_p.T849A A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 849 Actin-like. cell cortex ATP binding p.T849A(1) breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 ACGATGCCAGTAGTACGGCCA 0.602000 20 188 0 0 0.069288 0 0 NAB2 4665 broad.mit.edu 37 12 57485446 57485446 + Missense_Mutation SNP T T C TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr12:57485446T>C ENST00000300131.3 + 2 1000 c.622T>C c.(622-624)Ttc>Ctc p.F208L NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L|NAB2_ENST00000554718.1_3'UTR NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 208 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.F208L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 CTCGCCCCCCTTCTCCCCCCC 0.716000 5 41 0 0 0.029380 0 0 ITPK1 3705 broad.mit.edu 37 14 93404856 93404856 + Missense_Mutation SNP C C T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr14:93404856C>T ENST00000354313.3 - 11 1205 c.917G>A c.(916-918)tGc>tAc p.C306Y ITPK1_ENST00000267615.6_3'UTR NM_001142594.1 NP_001136066.1 Q13572 ITPK1_HUMAN inositol-tetrakisphosphate 1-kinase 0 ATP-grasp. blood coagulation|inositol trisphosphate metabolic process|signal transduction cytosol ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding p.C306Y(1) endometrium(1)|large_intestine(3)|lung(6)|ovary(1) 11 all_cancers(154;0.077)|all_epithelial(191;0.247) Epithelial(152;0.124)|all cancers(159;0.169) TTCTATAAAGCACACTTGGCA 0.527000 4 44 0 0 0.009096 0 0 RYR2 6262 broad.mit.edu 37 1 237870322 237870322 + Silent SNP C C T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr1:237870322C>T ENST00000366574.2 + 68 9971 c.9654C>T c.(9652-9654)atC>atT p.I3218I RYR2_ENST00000360064.6_Silent_p.I3216I|RYR2_ENST00000542537.1_Silent_p.I3202I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3218 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.I3216I(1)|p.I3218I(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGGAAGAAATCGTGGAATTAG 0.453000 11 153 0 0 0.080935 0 0 PCDHAC1 0 broad.mit.edu 37 5 140307487 140307487 + Missense_Mutation SNP C C T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr5:140307487C>T ENST00000253807.2 + 1 1010 c.1010C>T c.(1009-1011)gCc>gTc p.A337V PCDHAC1_ENST00000409700.3_Missense_Mutation_p.A337V|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron NM_018898.3 NP_061721.2 p.A337V(1) NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACGATCATGCCCCCGAACTG 0.532000 5 186 0 0 0.038147 0 0 CPXM2 119587 broad.mit.edu 37 10 125530493 125530493 + Missense_Mutation SNP G G T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr10:125530493G>T ENST00000241305.3 - 8 1195 c.1041C>A c.(1039-1041)agC>agA p.S347R CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 347 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding p.S347R(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) GGCCCTGGTGGCTTTTTCCAA 0.458000 45 284 3.68427e-32 4.87073e-32 0.117977 1 0 ZNF131 7690 broad.mit.edu 37 5 43139402 43139402 + Missense_Mutation SNP T T G TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr5:43139402T>G ENST00000509634.1 + 3 818 c.362T>G c.(361-363)cTt>cGt p.L121R ZNF131_ENST00000509156.1_Missense_Mutation_p.L121R|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000399534.1_Missense_Mutation_p.L121R|ZNF131_ENST00000306938.4_Missense_Mutation_p.L121R|ZNF131_ENST00000505606.2_Missense_Mutation_p.L121R P52739 ZN131_HUMAN zinc finger protein 131 121 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L121R(1) breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 17 ATCAAAGCCCTTGAAGTCAGG 0.358000 3 67 0 0 0.115264 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128685 45128685 + RNA SNP T T C rs145089594 by1000genomes TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr17:45128685T>C ENST00000575173.1 - 0 418 TTCCAGGATATGGCTATACTG 0.303000 5 119 0 0 0.014758 0 0 LTN1 26046 broad.mit.edu 37 21 30339290 30339290 + Missense_Mutation SNP T T G rs113622445 byFrequency TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr21:30339290T>G ENST00000361371.4 - 10 1673 c.1523A>C c.(1522-1524)gAt>gCt p.D508A LTN1_ENST00000389195.2_Missense_Mutation_p.D554A|LTN1_ENST00000389194.2_Missense_Mutation_p.D554A NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 508 ligase activity|zinc ion binding p.D508A(1) NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 GGACTCAACATCAGCTTCTGG 0.393000 10 117 0 0 0.080935 0 0 ANG 283 broad.mit.edu 37 14 21161988 21161988 + Missense_Mutation SNP C C T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr14:21161988C>T ENST00000336811.6 + 2 865 c.265C>T c.(265-267)Cac>Tac p.H89Y AL163636.6_ENST00000553909.1_RNA|RNASE4_ENST00000304704.4_Intron|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000397995.2_Intron|RNASE4_ENST00000555835.1_Intron|ANG_ENST00000397990.4_Missense_Mutation_p.H89Y|RNASE4_ENST00000555597.1_Intron|ANG_ENST00000554073.1_Intron NM_001145.4 NP_001136.1 P03950 ANGI_HUMAN angiogenin, ribonuclease, RNase A family, 5 89 actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|response to hormone stimulus|response to hypoxia|rRNA transcription angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|receptor binding|rRNA binding p.H89Y(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1) 5 all_cancers(95;0.00387) all_cancers(140;0.196)|all_epithelial(140;0.156) Epithelial(56;5.13e-07)|all cancers(55;4.73e-06) OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07) TGGAAACCCTCACAGAGAAAA 0.507000 4 65 0 0 0.014758 0 0 MYH4 4622 broad.mit.edu 37 17 10350461 10350461 + Missense_Mutation SNP G G A rs149007526 by1000genomes TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr17:10350461G>A ENST00000255381.2 - 35 5148 c.5038C>T c.(5038-5040)Cgc>Tgc p.R1680C CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1680 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.R1680C(1) NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TTAGCTCTGCGCTCAACCATT 0.502000 39 53 0 0 0.080422 0 0 KDM5A 5927 broad.mit.edu 37 12 417035 417035 + Missense_Mutation SNP C C A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr12:417035C>A ENST00000399788.2 - 23 3877 c.3515G>T c.(3514-3516)gGg>gTg p.G1172V KDM5A_ENST00000382815.4_Missense_Mutation_p.G1172V NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 1172 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G1172V(2) NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 TAGCATAAACCCACTGGCTGT 0.463000 T NUP98 AML 11 137 6.40141e-05 7.5653e-05 0.080935 1 0 GRK1 6011 broad.mit.edu 37 13 114324084 114324084 + Missense_Mutation SNP C C G TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr13:114324084C>G ENST00000335678.6 + 2 1014 c.782C>G c.(781-783)gCc>gGc p.A261G NM_002929.2 NP_002920.1 Q15835 RK_HUMAN G protein-coupled receptor kinase 1 261 Protein kinase. regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity p.A261G(1) ovary(2) 2 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.234) GAAACCAAAGCCGACCTCTGT 0.557000 4 154 0 0 0.014758 0 0 SLC6A4 6532 broad.mit.edu 37 17 28548700 28548700 + Missense_Mutation SNP T T G TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr17:28548700T>G ENST00000401766.2 - 2 789 c.277A>C c.(277-279)Att>Ctt p.I93L SLC6A4_ENST00000261707.3_Missense_Mutation_p.I93L P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 93 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity p.I93L(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) GCATAGCCAATCACTGAGAGA 0.562000 10 118 0 0 0.080935 0 0 USP2 9099 broad.mit.edu 37 11 119243942 119243942 + Silent SNP G G A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr11:119243942G>A ENST00000260187.2 - 2 543 c.249C>T c.(247-249)ccC>ccT p.P83P RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron NM_004205.4 NP_004196.4 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 83 Necessary for interaction with MDM4. cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity p.P83P(2) breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 24 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) CAGTGATGTCGGGTCTCAGCA 0.667000 6 150 0 0 0.021553 0 0 NTNG1 22854 broad.mit.edu 37 1 107691217 107691217 + Translation_Start_Site SNP T T C TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr1:107691217T>C ENST00000370067.1 + 2 629 c.2T>C c.(1-3)aTg>aCg p.M1T NTNG1_ENST00000370068.1_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370061.3_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370073.2_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370070.2_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370065.1_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370066.1_Start_Codon_SNP_p.M1T|NTNG1_ENST00000542803.1_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370072.3_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370071.2_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370074.4_Start_Codon_SNP_p.M1T Q9Y2I2 NTNG1_HUMAN netrin G1 1 axonogenesis anchored to plasma membrane protein binding p.M1T(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) AATTTAGAGATGTATTTGTCA 0.378000 3 106 0 0 0.115264 0 0 MGAM 8972 broad.mit.edu 37 7 141752697 141752697 + Silent SNP C C T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr7:141752697C>T ENST00000475668.2 + 26 3126 c.3072C>T c.(3070-3072)tcC>tcT p.S1024S MGAM_ENST00000549489.2_Silent_p.S1024S O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1024 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.S1024S(4) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TAAAGTCTTCCGTTTATGCCA 0.468000 7 112 0 0 0.038147 0 0 FFAR4 338557 broad.mit.edu 37 10 95326921 95326921 + Silent SNP G G T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr10:95326921G>T ENST00000371483.4 + 1 500 c.444G>T c.(442-444)cgG>cgT p.R148R FFAR4_ENST00000371481.4_Silent_p.R148R|FFAR4_ENST00000604414.1_Silent_p.R148R NM_181745.3 NP_859529.2 free fatty acid receptor 4 p.R148R(1) GCGGCGTGCGGGGTCCTGGGC 0.701000 4 14 1.23904e-05 1.53405e-05 0.014758 1 0 BEND5 79656 broad.mit.edu 37 1 49201966 49201967 + Frame_Shift_Ins INS - - T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr1:49201966_49201967insT ENST00000371833.3 - 5 1138_1139 c.1052_1053insA c.(1051-1053)aaafs p.K351fs AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron NM_024603.2 NP_078879.2 Q7L4P6 BEND5_HUMAN BEN domain containing 5 351 BEN. large_intestine(5)|lung(2)|skin(1) 8 CTGCATCTTTCTTTTTTTTTGT 0.460 8 161 --- --- --- --- TMCC2 9911 broad.mit.edu 37 1 205238670 205238670 + Frame_Shift_Del DEL A A - TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr1:205238670delA ENST00000358024.3 + 3 1729 c.1340delA c.(1339-1341)gcfs p.D447fs TMCC2_ENST00000545499.1_Frame_Shift_Del_p.D369fs|TMCC2_ENST00000329800.7_Frame_Shift_Del_p.D207fs|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Frame_Shift_Del_p.D222fs NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 447 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) CACCTGAAGGACCCCCTGGAA 0.642 7 104 --- --- --- --- RP11-571L19.7 0 broad.mit.edu 37 4 99877753 99877753 + RNA DEL A A - rs33952764 TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr4:99877753delA ENST00000583654.1 + 0 237 actctgtctcaaaaaaaaaaa 0.448 3 4 --- --- --- --- RP11-1252I4.2 0 broad.mit.edu 37 5 177398373 177398396 + RNA DEL AGGACGAAGAGCTGGAGAGCGCCA AGGACGAAGAGCTGGAGAGCGCCA - rs70994948 TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA ENST00000511650.1 + 0 145 GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA 0.683 2 4 --- --- --- --- SLC30A4 7782 broad.mit.edu 37 15 45814243 45814246 + Frame_Shift_Del DEL TCTC TCTC - TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr15:45814243_45814246delTCTC ENST00000261867.4 - 2 621_624 c.307_310delGAGA c.(307-312)tafs p.EI103fs HMGN2P46_ENST00000409454.1_RNA|SLC30A4_ENST00000559667.1_5'UTR NM_013309.4 NP_037441.2 O14863 ZNT4_HUMAN solute carrier family 30 (zinc transporter), member 4 103 regulation of sequestering of zinc ion|response to toxin endosome membrane|integral to membrane|late endosome zinc ion transmembrane transporter activity endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1) 15 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) TGCTTCAGTATCTCTCTCTGTTTG 0.475 30 159 --- --- --- ---