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 SLC6A2 6530 broad.mit.edu 37 16 55719143 55719143 + Missense_Mutation SNP G G A rs1805066 byFrequency TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr16:55719143G>A ENST00000379906.2 + 4 988 c.733G>A c.(733-735)Gtc>Atc p.V245I SLC6A2_ENST00000219833.8_Missense_Mutation_p.V245I|SLC6A2_ENST00000414754.3_Missense_Mutation_p.V245I|SLC6A2_ENST00000566163.1_Missense_Mutation_p.V245I|SLC6A2_ENST00000561820.1_Missense_Mutation_p.V245I|SLC6A2_ENST00000567238.1_Missense_Mutation_p.V140I|SLC6A2_ENST00000568943.1_Missense_Mutation_p.V245I NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 245 V -> I (in dbSNP:rs1805066). synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) GATGGTCGTCGTCATCGTCTT 0.527000 19 64 0 0 1 0 0 ZRANB3 84083 broad.mit.edu 37 2 136107733 136107733 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr2:136107733C>T ENST00000401392.1 - 5 624 c.412G>A c.(412-414)Gat>Aat p.D138N ZRANB3_ENST00000264159.6_Missense_Mutation_p.D138N|ZRANB3_ENST00000536680.1_Missense_Mutation_p.D138N Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 138 Helicase ATP-binding. intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) GTCTTTGCATCTGCGGTTAAG 0.373000 5 29 0 0 1 0 0 SYMPK 8189 broad.mit.edu 37 19 46341740 46341740 + Silent SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr19:46341740C>T ENST00000245934.7 - 10 1465 c.1221G>A c.(1219-1221)acG>acA p.T407T NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 407 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) CATTATCAGGCGTCAGCAGAG 0.602000 9 22 0 0 1 0 0 SCNN1D 6339 broad.mit.edu 37 1 1226700 1226700 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr1:1226700C>T ENST00000338555.2 + 15 2771 c.1627C>T c.(1627-1629)Ctc>Ttc p.L543F SCNN1D_ENST00000325425.8_Missense_Mutation_p.L609F|SCNN1D_ENST00000400928.3_Missense_Mutation_p.L543F|SCNN1D_ENST00000379116.5_Missense_Mutation_p.L707F sodium channel, non-voltage-gated 1, delta subunit lung(6)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) CGTCCTCTCCCTCCTGGAGCT 0.721000 5 21 0 0 1 0 0 C8orf74 203076 broad.mit.edu 37 8 10555320 10555320 + Silent SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr8:10555320C>T ENST00000304519.5 + 3 482 c.453C>T c.(451-453)ctC>ctT p.L151L RP1L1_ENST00000329335.3_Intron NM_001040032.1 NP_001035121 Q6P047 CH074_HUMAN chromosome 8 open reading frame 74 151 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 COAD - Colon adenocarcinoma(149;0.0811) CCCATCCCCTCCCGCTGGCCG 0.652000 34 38 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113168736 113168736 + Silent SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr9:113168736G>A ENST00000401783.2 - 38 9480 c.9144C>T c.(9142-9144)gcC>gcT p.A3048A SVEP1_ENST00000297826.5_Silent_p.A974A|SVEP1_ENST00000374469.1_Silent_p.A3025A NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3048 Sushi 27. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 ACTGGCCATCGGCTTCACAGG 0.498000 20 50 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9063763 9063763 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr19:9063763G>A ENST00000397910.4 - 3 23886 c.23683C>T c.(23683-23685)Cct>Tct p.P7895S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7897 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTCATGACAGGGGATGTAGAG 0.498000 40 70 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70890768 70890768 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr2:70890768G>A ENST00000264436.4 - 16 2414 c.1970C>T c.(1969-1971)aCg>aTg p.T657M ADD2_ENST00000407644.2_Missense_Mutation_p.T657M|ADD2_ENST00000355733.3_3'UTR NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding p.T657M(1) autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 TTCCTCTGCCGTCTGCTCCTC 0.572000 16 151 0 0 1 0 0 BBS9 27241 broad.mit.edu 37 7 33217147 33217147 + Missense_Mutation SNP A A G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr7:33217147A>G ENST00000242067.6 + 5 907 c.386A>G c.(385-387)cAt>cGt p.H129R BBS9_ENST00000396127.2_Missense_Mutation_p.H129R|BBS9_ENST00000425508.2_Missense_Mutation_p.H84R|BBS9_ENST00000354265.4_Missense_Mutation_p.H129R|BBS9_ENST00000350941.3_Missense_Mutation_p.H129R|BBS9_ENST00000355070.2_Missense_Mutation_p.H129R NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 129 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) ATGTATGAACATAATCTTCAG 0.343000 Bardet-Biedl syndrome 51 55 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27106539 27106539 + Nonsense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr1:27106539G>A ENST00000324856.7 + 20 6521 c.6150G>A c.(6148-6150)tgG>tgA p.W2050* ARID1A_ENST00000540690.1_Nonsense_Mutation_p.W378*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.W1833*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.W1667* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 2050 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AGTGGTGGTGGGACTGCTTGG 0.552000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 54 49 0 0 1 0 0 FAM118A 55007 broad.mit.edu 37 22 45719182 45719182 + Silent SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr22:45719182C>T ENST00000216214.3 + 4 1008 c.174C>T c.(172-174)gcC>gcT p.A58A FAM118A_ENST00000441876.2_Silent_p.A58A|FAM118A_ENST00000405673.1_Silent_p.A58A NM_001104595.1 NP_001098065.1 Q9NWS6 F118A_HUMAN family with sequence similarity 118, member A 58 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) GCATCGAGGCCGTCATCGAGG 0.642000 5 83 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39760203 39760203 + Silent SNP A A G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr12:39760203A>G ENST00000395670.3 - 6 1271 c.852T>C c.(850-852)acT>acC p.T284T KIF21A_ENST00000361418.5_Silent_p.T284T|KIF21A_ENST00000361961.3_Silent_p.T284T|KIF21A_ENST00000544797.2_Silent_p.T284T|KIF21A_ENST00000541463.2_Silent_p.T284T Q7Z4S6 KI21A_HUMAN kinesin family member 21A 284 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) CTGTAGCTCCAGTACGCTTCA 0.393000 25 53 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5904368 5904368 + Silent SNP C C T rs138422072 TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr20:5904368C>T ENST00000378961.4 + 4 1782 c.1578C>T c.(1576-1578)taC>taT p.Y526Y NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 526 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 ACCCATACTACGACCCTCTCC 0.438000 6 96 0 0 1 0 0 PMS2CL 441194 broad.mit.edu 37 7 6777303 6777303 + RNA SNP G G T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr7:6777303G>T ENST00000486256.1 + 0 1430 NR_002217.1 AGTGTTTTAAGAAAGAAGAAA 0.373000 18 53 3.41278e-10 3.7262e-10 1 1 0 PYCR1 5831 broad.mit.edu 37 17 79892987 79892987 + Missense_Mutation SNP G G A rs121918376 TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr17:79892987G>A ENST00000337943.5 - 4 797 c.355C>T c.(355-357)Cgc>Tgc p.R119C PYCR1_ENST00000329875.8_Missense_Mutation_p.R119C|PYCR1_ENST00000402252.2_Missense_Mutation_p.R146C|PYCR1_ENST00000577756.1_Missense_Mutation_p.R119C|PYCR1_ENST00000403172.4_Missense_Mutation_p.R119C NM_153824.1 NP_722546.1 P32322 P5CR1_HUMAN pyrroline-5-carboxylate reductase 1 119 R -> G (in ARCL2B).|R -> H (in ARCL2B). cellular response to oxidative stress|proline biosynthetic process mitochondrial matrix binding|pyrroline-5-carboxylate reductase activity endometrium(2)|kidney(1)|lung(1)|prostate(1) 5 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) L-Proline(DB00172)|NADH(DB00157) GTCATGCAGCGGATGACCCTG 0.647000 18 24 0 0 1 0 0 HABP4 22927 broad.mit.edu 37 9 99250477 99250477 + Missense_Mutation SNP G G A rs141094261 byFrequency TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr9:99250477G>A ENST00000375249.4 + 7 1181 c.1106G>A c.(1105-1107)cGt>cAt p.R369H HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Missense_Mutation_p.R264H NM_014282.2 NP_055097.2 Q5JVS0 HABP4_HUMAN hyaluronan binding protein 4 369 platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|extracellular region|nucleus protein binding NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214) CGTCCTGGGCGTGGAGCCAGA 0.552000 22 33 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940347 144940347 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr8:144940347C>T ENST00000525985.1 - 2 7146 c.7075G>A c.(7075-7077)Gtg>Atg p.V2359M P58107 EPIPL_HUMAN epiplakin 1 2359 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCCACGTCCACGGGCACGCGG 0.692000 53 759 0 0 1 0 0 POU3F3 5455 broad.mit.edu 37 2 105473459 105473459 + Silent SNP G G C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr2:105473459G>C ENST00000361360.2 + 1 1491 c.1491G>C c.(1489-1491)acG>acC p.T497T RP11-13J10.1_ENST00000598623.1_RNA NM_006236.1 NP_006227.1 P20264 PO3F3_HUMAN POU class 3 homeobox 3 497 metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation nucleus sequence-specific DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 GGCTGCAGACGAGCGTTCAGT 0.766000 4 16 0 0 1 0 0 BUD13 84811 broad.mit.edu 37 11 116619253 116619253 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr11:116619253G>A ENST00000260210.4 - 10 1828 c.1805C>T c.(1804-1806)gCc>gTc p.A602V BUD13_ENST00000375445.3_Missense_Mutation_p.A468V NM_032725.3 NP_116114.1 Q9BRD0 BUD13_HUMAN BUD13 homolog (S. cerevisiae) 602 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1) 22 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) CTTCTTGCTGGCAAGCCTGGC 0.478000 24 34 0 0 1 0 0 DZANK1 55184 broad.mit.edu 37 20 18371024 18371024 + Splice_Site SNP T T G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr20:18371024T>G ENST00000357236.4 - 19 2206 c.1547A>C c.(1546-1548)gAg>gCg p.E516A DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000262547.5_Splice_Site_p.E630A|DZANK1_ENST00000358866.6_Splice_Site_p.E630A|DZANK1_ENST00000329494.5_Splice_Site_p.E608A Q9NVP4 CT012_HUMAN double zinc ribbon and ankyrin repeat domains 1 457 intracellular zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10) 19 AACACTTACCTCATCCAGCAG 0.483000 26 91 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141079602 141079602 + Silent SNP A A T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr2:141079602A>T ENST00000389484.3 - 82 13541 c.12570T>A c.(12568-12570)tcT>tcA p.S4190S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4190 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AAGTGGCCCCAGAAGGATTTA 0.368000 TSP Lung(27;0.18) 48 36 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32486811 32486811 + Missense_Mutation SNP A A G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chrX:32486811A>G ENST00000357033.4 - 23 3172 c.2966T>C c.(2965-2967)cTg>cCg p.L989P DMD_ENST00000378677.2_Missense_Mutation_p.L985P NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 989 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTGCTCTTGCAGAGAACTTTG 0.328000 14 50 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133539920 133539920 + Missense_Mutation SNP T T G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr2:133539920T>G ENST00000409261.1 - 14 4837 c.4464A>C c.(4462-4464)caA>caC p.Q1488H NCKAP5_ENST00000317721.6_Missense_Mutation_p.Q1488H|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1488 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TTGTTTGCACTTGGCCCTTTT 0.507000 11 108 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7797579 7797579 + Missense_Mutation SNP G G T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr17:7797579G>T ENST00000380358.4 + 7 1249 c.1248G>T c.(1246-1248)aaG>aaT p.K416N CHD3_ENST00000358181.4_Missense_Mutation_p.K357N|CHD3_ENST00000330494.7_Missense_Mutation_p.K357N NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 357 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) GGAAGAAGAAGAAGGGTAAGG 0.532000 11 45 1.58986e-06 1.68431e-06 1 1 0 F5 2153 broad.mit.edu 37 1 169487767 169487767 + Missense_Mutation SNP C C G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr1:169487767C>G ENST00000367796.3 - 23 6444 c.6243G>C c.(6241-6243)aaG>aaC p.K2081N F5_ENST00000367797.3_Missense_Mutation_p.K2076N P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 2076 F5/8 type C 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TGTTTTCTATCTTTCCATTTT 0.448000 5 40 0 0 1 0 0 DGKQ 1609 broad.mit.edu 37 4 961427 961427 + Silent SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr4:961427C>T ENST00000273814.3 - 8 970 c.897G>A c.(895-897)acG>acA p.T299T NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa 299 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) AGATCTTCAGCGTTTGCTTCC 0.667000 14 16 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39472816 39472816 + Silent SNP G G T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr7:39472816G>T ENST00000518318.2 + 7 1209 c.1167G>T c.(1165-1167)ggG>ggT p.G389G POU6F2_ENST00000403058.1_Silent_p.G389G|POU6F2_ENST00000559001.1_Silent_p.G334G P78424 PO6F2_HUMAN POU class 6 homeobox 2 389 Gln-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 CAGTCATTGGGAACCAGATCC 0.612000 12 76 5.50884e-06 5.77888e-06 1 1 0 IGJ 3512 broad.mit.edu 37 4 71522981 71522981 + Silent SNP G G T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr4:71522981G>T ENST00000254801.4 - 3 385 c.216C>A c.(214-216)atC>atA p.I72I IGJ_ENST00000543780.1_Silent_p.I88I|ENAM_ENST00000472903.1_Intron NM_144646.3 NP_653247.1 P01591 IGJ_HUMAN immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides 72 immune response extracellular region antigen binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 Lung(101;0.235) TGGGATCAGAGATATTCTCCC 0.323000 18 70 1.96292e-10 2.16529e-10 1 1 0 CA12 771 broad.mit.edu 37 15 63637770 63637770 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr15:63637770C>T ENST00000178638.3 - 4 775 c.335G>A c.(334-336)cGc>cAc p.R112H CA12_ENST00000422263.2_Missense_Mutation_p.R52H|CA12_ENST00000344366.3_Missense_Mutation_p.R112H NM_001218.3 NP_001209.1 O43570 CAH12_HUMAN carbonic anhydrase XII 112 one-carbon metabolic process integral to membrane carbonate dehydratase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 16 Acetazolamide(DB00819) GGCACTGTAGCGAGACTGGAG 0.657000 3 18 0 0 1 0 0 SNAPC4 6621 broad.mit.edu 37 9 139273307 139273307 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr9:139273307G>A ENST00000298532.2 - 21 3340 c.2972C>T c.(2971-2973)cCt>cTt p.P991L NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 991 Pro-rich. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) TGAGAAGACAGGAGCGAGGGG 0.667000 7 7 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61622120 61622120 + Missense_Mutation SNP C C A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr2:61622120C>A ENST00000398571.2 - 5 697 c.621G>T c.(619-621)ttG>ttT p.L207F NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 207 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) GAAGCAAATGCAATGGTACTT 0.328000 4 57 0.184627 0.184627 1 1 0 GDF11 10220 broad.mit.edu 37 12 56143622 56143622 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr12:56143622G>A ENST00000257868.5 + 3 1217 c.1180G>A c.(1180-1182)Ggc>Agc p.G394S NM_005811.3 NP_005802.1 O95390 GDF11_HUMAN growth differentiation factor 11 394 growth|mesoderm development|skeletal system development extracellular space cytokine activity|growth factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1) 12 GATTATCTACGGCAAGATCCC 0.572000 34 133 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229587 140229587 + Missense_Mutation SNP T T G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr5:140229587T>G ENST00000378122.3 + 1 2231 c.1507T>G c.(1507-1509)Tcg>Gcg p.S503A PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.S503A|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCGAGCGCTCGCTGTCGAG 0.672000 30 167 0 0 1 0 0 ANO5 203859 broad.mit.edu 37 11 22249087 22249087 + Silent SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr11:22249087C>T ENST00000324559.8 + 7 920 c.603C>T c.(601-603)atC>atT p.I201I NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 201 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TCTTCCTCATCGAAGATCAGG 0.453000 25 61 0 0 1 0 0 BMP15 9210 broad.mit.edu 37 X 50659529 50659529 + Silent SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chrX:50659529C>T ENST00000252677.3 + 2 1101 c.1101C>T c.(1099-1101)gtC>gtT p.V367V NM_005448.2 NP_005439.2 O95972 BMP15_HUMAN bone morphogenetic protein 15 367 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) CAATTAGTGTCCTTATGATTG 0.463000 25 97 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7580718 7580718 + Missense_Mutation SNP A A C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr6:7580718A>C ENST00000379802.3 + 23 4636 c.4295A>C c.(4294-4296)cAg>cCg p.Q1432P DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1432 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GACATCCAACAGCAAAAGGCC 0.488000 19 63 0 0 1 0 0 TOP1 7150 broad.mit.edu 37 20 39728847 39728847 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr20:39728847G>A ENST00000361337.2 + 12 1377 c.1127G>A c.(1126-1128)cGa>cAa p.R376Q RP1-1J6.2_ENST00000454626.1_RNA NM_003286.2 NP_003277.1 P11387 TOP1_HUMAN topoisomerase (DNA) I 376 DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) CTGAAGAGACGAATCATGCCC 0.507000 T NUP98 AML* 24 27 0 0 1 0 0 SNRPG 6637 broad.mit.edu 37 2 70515288 70515288 + Nonsense_Mutation SNP A A T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr2:70515288A>T ENST00000482975.2 - 3 823 c.56T>A c.(55-57)tTg>tAg p.L19* SNRPG_ENST00000438261.1_Nonsense_Mutation_p.L19*|SNRPG_ENST00000454893.1_Nonsense_Mutation_p.L31*|SNRPG_ENST00000429728.1_5'UTR|SNRPG_ENST00000413456.2_Nonsense_Mutation_p.L23*|SNRPG_ENST00000449935.2_Nonsense_Mutation_p.L19*|SNRPG_ENST00000272348.2_Nonsense_Mutation_p.L31* P62308 RUXG_HUMAN small nuclear ribonucleoprotein polypeptide G 31 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding endometrium(1) 1 AAATCCCCGCAATATTCCTTG 0.358000 6 100 0 0 1 0 0 CYP26C1 340665 broad.mit.edu 37 10 94821038 94821038 + Silent SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr10:94821038G>A ENST00000285949.5 + 1 18 c.18G>A c.(16-18)ctG>ctA p.L6L NM_183374.2 NP_899230.2 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, polypeptide 1 6 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1)|lung(3)|ovary(1) 5 Colorectal(252;0.122) CTTGGGGGCTGAGCTGCCTGT 0.711000 6 4 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229323 140229323 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr5:140229323C>T ENST00000378122.3 + 1 1967 c.1243C>T c.(1243-1245)Cgc>Tgc p.R415C PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.R415C|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCTCTGGACCGCGAGAGTGT 0.642000 33 125 0 0 1 0 0 RGAG4 340526 broad.mit.edu 37 X 71351227 71351227 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chrX:71351227C>T ENST00000545866.1 - 1 531 c.164G>A c.(163-165)cGc>cAc p.R55H RGAG4_ENST00000609883.1_Missense_Mutation_p.R55H|NHSL2_ENST00000540800.1_Intron NM_001024455.3 NP_001019626.1 Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 55 cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) TACTGGCCAGCGGATGTAGCT 0.587000 19 50 0 0 1 0 0 NSUN7 79730 broad.mit.edu 37 4 40752759 40752759 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr4:40752759G>A ENST00000381782.2 + 2 544 c.49G>A c.(49-51)Gag>Aag p.E17K NSUN7_ENST00000316607.5_Missense_Mutation_p.E17K NM_024677.4 NP_078953 NOP2/Sun domain family, member 7 NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 AGAAGATCCCGAGATCATCTC 0.552000 23 46 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95579563 95579563 + Splice_Site SNP T T A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr14:95579563T>A ENST00000526495.1 - 14 2199 c.e14-2 DICER1_ENST00000393063.1_Splice_Site|DICER1_ENST00000541352.1_Splice_Site|DICER1_ENST00000343455.3_Splice_Site|DICER1_ENST00000527414.1_Splice_Site Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) GCACAGTATCTGTGAAGAAAA 0.378000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 23 55 0 0 1 0 0 CEP170P1 645455 broad.mit.edu 37 4 119475153 119475153 + RNA SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr4:119475153C>T ENST00000412784.2 + 0 864 NR_003135.2 CTGTTTCAGCCGCAGCTGAAT 0.473000 10 2 0 0 1 0 0 ZHX2 22882 broad.mit.edu 37 8 123965291 123965291 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr8:123965291C>T ENST00000314393.4 + 3 2376 c.1541C>T c.(1540-1542)gCg>gTg p.A514V NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 514 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) TTGGCCATCGCGGCCTCCCGA 0.537000 33 18 0 0 1 0 0 TLE1 7088 broad.mit.edu 37 9 84300624 84300624 + Missense_Mutation SNP C C A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr9:84300624C>A ENST00000376499.3 - 4 1265 c.201G>T c.(199-201)atG>atT p.M67I TLE1_ENST00000376463.1_Missense_Mutation_p.M11I|TLE1_ENST00000376472.1_5'UTR NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 67 Gln-rich. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 ATCCATATGACATTTCATAAT 0.294000 5 11 5.9392e-07 6.35494e-07 1 1 0 ILVBL 10994 broad.mit.edu 37 19 15226826 15226826 + Missense_Mutation SNP G G A rs141415835 by1000genomes TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr19:15226826G>A ENST00000263383.3 - 13 1667 c.1528C>T c.(1528-1530)Cgg>Tgg p.R510W ILVBL_ENST00000534378.1_Missense_Mutation_p.R403W NM_006844.3 NP_006835.2 A1L0T0 ILVBL_HUMAN ilvB (bacterial acetolactate synthase)-like 510 Thiamine pyrophosphate binding (By similarity). R -> Q (in dbSNP:rs35548653). integral to membrane magnesium ion binding|thiamine pyrophosphate binding|transferase activity NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1) 26 GCATCTGGCCGGCACAGCTTG 0.597000 4 44 0 0 1 0 0 WDR81 124997 broad.mit.edu 37 17 1631759 1631759 + Missense_Mutation SNP A A G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr17:1631759A>G ENST00000409644.1 + 1 3506 c.3506A>G c.(3505-3507)gAg>gGg p.E1169G RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Missense_Mutation_p.E118G|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000419248.1_Intron NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 0 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) gaggaggaggagggggagcag 0.632000 4 30 0 0 1 0 0 LINC00264 645528 broad.mit.edu 37 10 26880338 26880338 + RNA SNP G G C rs3118888 by1000genomes TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr10:26880338G>C ENST00000412114.1 + 0 573 NR_026793.1 GCTGAAACATGGAAGGTAAAA 0.483000 3 28 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149508082 149508082 + RNA SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr7:149508082G>A ENST00000378016.2 + 0 9476 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ACTGTGGTTCGTCCATGTGAA 0.607000 12 36 0 0 1 0 0 CTSW 1521 broad.mit.edu 37 11 65649734 65649734 + Silent SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr11:65649734G>A ENST00000528419.1 + 4 379 c.375G>A c.(373-375)gaG>gaA p.E125E CTSW_ENST00000307886.3_Silent_p.E125E P56202 CATW_HUMAN cathepsin W 125 immune response|proteolysis cysteine-type endopeptidase activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5) 9 READ - Rectum adenocarcinoma(159;0.168) AAGAGCCAGAGGAGTCAGTAC 0.582000 21 120 0 0 1 0 0 OR5M8 219484 broad.mit.edu 37 11 56258428 56258428 + Missense_Mutation SNP C C A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr11:56258428C>A ENST00000327216.2 - 1 443 c.419G>T c.(418-420)tGc>tTc p.C140F NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) GAGGAAGGAGCACACACTCTT 0.522000 29 44 1.17739e-12 1.3123e-12 1 1 0 FER1L5 90342 broad.mit.edu 37 2 97370381 97370381 + RNA SNP A A G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr2:97370381A>G ENST00000457909.1 + 0 5629 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 CAGGACCCACAAATCACCTGA 0.527000 41 57 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112670808 112670808 + Splice_Site SNP C C G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr12:112670808C>G ENST00000550722.1 - 38 5954 c.5559G>C c.(5557-5559)aaG>aaC p.K1853N HECTD4_ENST00000430131.2_Splice_Site_p.K1577N|HECTD4_ENST00000377560.5_Splice_Site_p.K1827N NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 ATGAGGTTACCTTGGTCATGT 0.403000 7 6 0 0 1 0 0 TBX22 50945 broad.mit.edu 37 X 79283540 79283540 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chrX:79283540C>T ENST00000442340.1 + 8 1044 c.554C>T c.(553-555)aCt>aTt p.T185I TBX22_ENST00000373291.1_Missense_Mutation_p.T185I|TBX22_ENST00000373294.5_Missense_Mutation_p.T305I|TBX22_ENST00000373296.3_Missense_Mutation_p.T305I NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 305 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 CCTTCTTTCACTCTCGATTTT 0.383000 11 15 0 0 1 0 0 GTPBP8 29083 broad.mit.edu 37 3 112715770 112715770 + Missense_Mutation SNP G G C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr3:112715770G>C ENST00000383677.3 + 3 514 c.499G>C c.(499-501)Gtt>Ctt p.V167L GTPBP8_ENST00000473129.1_Missense_Mutation_p.V50L|GTPBP8_ENST00000383678.2_Missense_Mutation_p.V200L|GTPBP8_ENST00000467752.1_Missense_Mutation_p.V89L NM_138485.1 NP_612494.1 Q8N3Z3 GTPB8_HUMAN GTP-binding protein 8 (putative) 200 G. barrier septum formation GTP binding kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 6 AGTGGATAGCGTTGTTGGAAT 0.318000 6 64 0 0 1 0 0 SNIP1 79753 broad.mit.edu 37 1 38018319 38018319 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr1:38018319G>A ENST00000296215.6 - 2 326 c.254C>T c.(253-255)tCa>tTa p.S85L SNIP1_ENST00000468040.1_5'UTR NM_024700.3 NP_078976.2 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 1 85 Arg-rich. production of miRNAs involved in gene silencing by miRNA nucleus protein binding breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 25 Myeloproliferative disorder(586;0.0393) TCTTCTCCCTGAGGCCTTGTT 0.458000 82 162 0 0 1 0 0 ZNF354A 6940 broad.mit.edu 37 5 178139989 178139989 + Missense_Mutation SNP G G C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr5:178139989G>C ENST00000335815.2 - 5 1087 c.890C>G c.(889-891)tCc>tGc p.S297C NM_005649.2 NP_005640.2 O60765 Z354A_HUMAN zinc finger protein 354A 297 regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2) 19 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) ACATCTGTAGGATTTCTCCAC 0.378000 24 78 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25349680 25349680 + RNA SNP G G T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr15:25349680G>T ENST00000546682.1 + 0 2150 SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 GCTGGTCATTGTGCTGCTGGT 0.448000 4 25 0.00909568 0.00918149 1 1 0 TPO 7173 broad.mit.edu 37 2 1544451 1544451 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr2:1544451G>A ENST00000345913.4 + 16 2795 c.2704G>A c.(2704-2706)Gta>Ata p.V902I TPO_ENST00000349624.3_Missense_Mutation_p.V729I|TPO_ENST00000329066.4_Missense_Mutation_p.V902I|TPO_ENST00000346956.3_Missense_Mutation_p.V858I|TPO_ENST00000382201.3_Missense_Mutation_p.V845I|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.V729I NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 902 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity p.V902I(1) breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GCACCAGGCCGTAGGGACCTC 0.637000 27 73 0 0 1 0 0 CADM4 199731 broad.mit.edu 37 19 44127538 44127538 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr19:44127538C>T ENST00000222374.2 - 9 1159 c.1111G>A c.(1111-1113)Gaa>Aaa p.E371K NM_145296.1 NP_660339.1 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 371 cell adhesion integral to membrane endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 12 Prostate(69;0.0199) AGGAAGGCTTCTCTTGCTTCT 0.592000 42 128 0 0 1 0 0 ABCC2 1244 broad.mit.edu 37 10 101571351 101571351 + Silent SNP A A T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr10:101571351A>T ENST00000370449.4 + 15 2072 c.1959A>T c.(1957-1959)acA>acT p.T653T NM_000392.3 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 653 ABC transporter 1. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CGGAAGCCACAGTCCGAGAGT 0.453000 36 37 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70953310 70953310 + Missense_Mutation SNP G G T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr12:70953310G>T ENST00000334414.6 - 18 4571 c.4527C>A c.(4525-4527)aaC>aaA p.N1509K PTPRB_ENST00000550358.1_Missense_Mutation_p.N1421K|PTPRB_ENST00000538708.1_Missense_Mutation_p.N1201K|PTPRB_ENST00000551525.1_Missense_Mutation_p.N1508K|PTPRB_ENST00000451516.2_Missense_Mutation_p.N1201K|PTPRB_ENST00000550857.1_Missense_Mutation_p.N1201K|PTPRB_ENST00000261266.5_Missense_Mutation_p.N1291K NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1291 Fibronectin type-III 17. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GCTCAAAGTCGTTGTAGTCTG 0.493000 66 196 5.00936e-31 5.70214e-31 1 1 0 ZIC1 7545 broad.mit.edu 37 3 147128234 147128234 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr3:147128234C>T ENST00000282928.4 + 1 1064 c.335C>T c.(334-336)gCg>gTg p.A112V NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 112 Poly-Ala. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 GACGCGGCGGCGGCAGCCAGC 0.701000 7 70 0 0 1 0 0 FPGT 8790 broad.mit.edu 37 1 74670509 74670509 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr1:74670509G>A ENST00000609362.1 + 4 815 c.778G>A c.(778-780)Gat>Aat p.D260N FPGT_ENST00000370894.5_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.D273N|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron NM_003838.4 NP_003829.3 fucose-1-phosphate guanylyltransferase breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 39 TGACATTGCCGATCTTAAATT 0.358000 29 60 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3633236 3633236 + Missense_Mutation SNP T T C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr16:3633236T>C ENST00000294008.3 - 14 5655 c.5015A>G c.(5014-5016)cAt>cGt p.H1672R RP11-461A8.1_ENST00000573982.1_lincRNA NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1672 Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 GATGCTTTCATGATGCTTCCT 0.627000 Direct reversal of damage 54 57 0 0 1 0 0 SEMA6D 80031 broad.mit.edu 37 15 48052549 48052549 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr15:48052549C>T ENST00000316364.5 + 3 597 c.158C>T c.(157-159)tCg>tTg p.S53L SEMA6D_ENST00000389428.3_Missense_Mutation_p.S53L|SEMA6D_ENST00000354744.4_Missense_Mutation_p.S53L|SEMA6D_ENST00000355997.3_Missense_Mutation_p.S53L|SEMA6D_ENST00000389425.3_Missense_Mutation_p.S53L|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S53L|SEMA6D_ENST00000558014.1_Missense_Mutation_p.S53L|SEMA6D_ENST00000558816.1_Missense_Mutation_p.S53L|SEMA6D_ENST00000537942.1_Missense_Mutation_p.S53L|SEMA6D_ENST00000389432.2_Missense_Mutation_p.S53L|SEMA6D_ENST00000389433.2_Missense_Mutation_p.S53L|SEMA6D_ENST00000358066.4_Missense_Mutation_p.S53L NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 53 Sema. axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) GGCAATGAATCGCAGCACAGG 0.408000 9 50 0 0 1 0 0 TP53BP2 7159 broad.mit.edu 37 1 223984139 223984139 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr1:223984139C>T ENST00000391878.2 - 14 2483 c.1715G>A c.(1714-1716)cGg>cAg p.R572Q TP53BP2_ENST00000343537.7_Missense_Mutation_p.R701Q|TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000498843.1_5'UTR NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 695 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) GCTGAGTGGCCGAGGAATTCT 0.448000 91 102 0 0 1 0 0 IPO9 55705 broad.mit.edu 37 1 201828120 201828120 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr1:201828120C>T ENST00000361565.4 + 13 1535 c.1466C>T c.(1465-1467)tCa>tTa p.S489L NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 489 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 CTCAACCTCTCAGGTATGTTT 0.463000 14 39 0 0 1 0 0 APOC3 345 broad.mit.edu 37 11 116701559 116701559 + Silent SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr11:116701559C>T ENST00000375345.1 + 3 242 c.180C>T c.(178-180)acC>acT p.T60T APOC3_ENST00000470144.1_3'UTR|APOC3_ENST00000227667.3_Silent_p.T42T P02656 APOC3_HUMAN apolipoprotein C-III 42 Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding endometrium(1)|lung(6) 7 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) CCACCAAGACCGCCAAGGATG 0.647000 6 17 0 0 1 0 0 PRKD2 25865 broad.mit.edu 37 19 47197163 47197163 + Silent SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr19:47197163G>A ENST00000433867.1 - 11 2022 c.1545C>T c.(1543-1545)gaC>gaT p.D515D PRKD2_ENST00000595515.1_Silent_p.D515D|PRKD2_ENST00000600194.1_Silent_p.D358D|PRKD2_ENST00000291281.4_Silent_p.D515D|PRKD2_ENST00000601806.1_Silent_p.D358D NM_001079880.1|NM_001079881.1|NM_016457.4 NP_001073349|NP_001073350|NP_057541 Q9BZL6 KPCD2_HUMAN protein kinase D2 515 cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) CGCTGGGTGCGTCCTGAAGGA 0.687000 19 57 0 0 1 0 0 KLK12 43849 broad.mit.edu 37 19 51535178 51535178 + Silent SNP G G T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr19:51535178G>T ENST00000525263.1 - 3 530 c.411C>A c.(409-411)ggC>ggA p.G137G KLK12_ENST00000529888.1_Intron|KLK12_ENST00000250351.4_Silent_p.G137G|KLK12_ENST00000319590.4_Silent_p.G137G|KLK12_ENST00000250352.11_Intron|CTC-518B2.9_ENST00000594910.1_RNA Q9UKR0 KLK12_HUMAN kallikrein-related peptidase 12 137 Peptidase S1. proteolysis extracellular region|soluble fraction serine-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 12 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399) GGCACTCGGTGCCAGCGGTTG 0.677000 32 87 5.60225e-13 6.3099e-13 1 1 0 SNRPG 6637 broad.mit.edu 37 2 70515306 70515306 + Missense_Mutation SNP C C A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr2:70515306C>A ENST00000482975.2 - 3 805 c.38G>T c.(37-39)aGa>aTa p.R13I SNRPG_ENST00000438261.1_Missense_Mutation_p.R13I|SNRPG_ENST00000454893.1_Missense_Mutation_p.R25I|SNRPG_ENST00000429728.1_5'UTR|SNRPG_ENST00000413456.2_Missense_Mutation_p.R17I|SNRPG_ENST00000449935.2_Missense_Mutation_p.R13I|SNRPG_ENST00000272348.2_Missense_Mutation_p.R25I P62308 RUXG_HUMAN small nuclear ribonucleoprotein polypeptide G 25 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding endometrium(1) 1 TTGGACATGTCTGCCACCATT 0.363000 5 83 0.000602214 0.000613685 1 1 0 TUBBP5 643224 broad.mit.edu 37 9 141070125 141070125 + RNA SNP C C T rs10867114 by1000genomes TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr9:141070125C>T ENST00000503395.1 + 0 1205 CGCTCGGGGCCCTTCGGGCAG 0.672000 5 54 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70515701 70515701 + Silent SNP G G A rs149109491 byFrequency TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr14:70515701G>A ENST00000381269.2 - 7 2943 c.2190C>T c.(2188-2190)taC>taT p.Y730Y SLC8A3_ENST00000357887.3_Silent_p.Y728Y|SLC8A3_ENST00000533541.1_Silent_p.Y87Y|SLC8A3_ENST00000394330.2_Silent_p.Y87Y|SLC8A3_ENST00000528359.1_Silent_p.Y728Y|SLC8A3_ENST00000356921.2_Silent_p.Y724Y|SLC8A3_ENST00000534137.1_Silent_p.Y727Y|SLC8A3_ENST00000216568.7_Silent_p.Y101Y NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 730 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) AGTGCATGACGTAGTCAAAGC 0.572000 28 43 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92623737 92623737 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr11:92623737G>A ENST00000298047.6 + 27 13245 c.13228G>A c.(13228-13230)Gat>Aat p.D4410N FAT3_ENST00000409404.2_Missense_Mutation_p.D4378N|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000525166.1_Missense_Mutation_p.D4260N|FAT3_ENST00000533797.1_Missense_Mutation_p.D713N Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4410 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGAGAACCAGGATGGAGGGTC 0.547000 TCGA Ovarian(4;0.039) 11 24 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 72889512 72889512 + Missense_Mutation SNP A A T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr6:72889512A>T ENST00000264839.7 + 5 706 c.706A>T c.(706-708)Agc>Tgc p.S236C RIMS1_ENST00000491071.2_Missense_Mutation_p.S236C|RIMS1_ENST00000522291.1_Missense_Mutation_p.S236C|RIMS1_ENST00000520567.1_Missense_Mutation_p.S236C|RIMS1_ENST00000518273.1_Missense_Mutation_p.S236C|RIMS1_ENST00000521978.1_Missense_Mutation_p.S236C|RIMS1_ENST00000348717.5_Missense_Mutation_p.S236C|RIMS1_ENST00000517960.1_Missense_Mutation_p.S236C Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 236 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) TGCTCCTCCCAGCGCACCACC 0.587000 41 22 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228104885 228104885 + Silent SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr2:228104885C>T ENST00000396578.3 + 3 333 c.171C>T c.(169-171)ccC>ccT p.P57P AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 57 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CTGGACCCCCCGGTTCTCCTG 0.517000 14 2 0 0 1 0 0 PRR7 80758 broad.mit.edu 37 5 176882976 176882976 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr5:176882976C>T ENST00000323249.3 + 4 1169 c.679C>T c.(679-681)Cca>Tca p.P227S PRR7_ENST00000510492.1_Missense_Mutation_p.P227S|PRR7_ENST00000502922.1_Missense_Mutation_p.P227S NM_030567.4 NP_085044.2 Q8TB68 PRR7_HUMAN proline rich 7 (synaptic) 227 Pro-rich. cell junction|integral to membrane|postsynaptic membrane all_cancers(89;1.51e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCGCCCTGCCCAGCCCTCTG 0.746000 7 5 0 0 1 0 0 FIBIN 387758 broad.mit.edu 37 11 27016101 27016101 + Missense_Mutation SNP A A C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr11:27016101A>C ENST00000318627.2 + 1 474 c.28A>C c.(28-30)Agt>Cgt p.S10R NM_203371.1 NP_976249.1 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog (zebrafish) 10 extracellular region|Golgi apparatus breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1) 11 CTTCTGCATGAGTTTCTTCTG 0.527000 36 25 0 0 1 0 0 C10orf12 26148 broad.mit.edu 37 10 98743230 98743230 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr10:98743230G>A ENST00000286067.2 + 1 2190 c.2083G>A c.(2083-2085)Gag>Aag p.E695K NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 695 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) GAAAGATGATGAGAGTGATGC 0.517000 14 55 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233314848 233314848 + Missense_Mutation SNP T T C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr1:233314848T>C ENST00000258229.9 - 16 3374 c.3140A>G c.(3139-3141)cAt>cGt p.H1047R PCNXL2_ENST00000488780.2_Missense_Mutation_p.H180R NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) ACGGCTCAGATGGTAAGAAAG 0.527000 16 44 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11325227 11325227 + Splice_Site SNP A A G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr19:11325227A>G ENST00000294618.7 - 33 4215 c.e33+1 DOCK6_ENST00000319867.7_Splice_Site|CTC-510F12.2_ENST00000588634.1_RNA NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 ATCAAGCCCTACCTGCACGAT 0.557000 24 27 0 0 1 0 0 IGSF5 150084 broad.mit.edu 37 21 41142905 41142905 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr21:41142905G>A ENST00000380588.4 + 4 584 c.481G>A c.(481-483)Gtt>Att p.V161I IGSF5_ENST00000479378.1_3'UTR NM_001080444.1 NP_001073913.1 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily, member 5 161 Ig-like V-type 2. integral to membrane|tight junction breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) ACCTTGTGAAGTTACTTGTCT 0.468000 34 46 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119115032 119115032 + Missense_Mutation SNP C C G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr9:119115032C>G ENST00000328252.3 + 16 4381 c.4012C>G c.(4012-4014)Cca>Gca p.P1338A PAPPA_ENST00000534838.1_Missense_Mutation_p.P376A NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1338 Sushi 2. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GTGGTCCTTCCCAGAGGCCCT 0.602000 24 21 0 0 1 0 0 SLC6A2 6530 broad.mit.edu 37 16 55719143 55719143 + Missense_Mutation SNP G G A rs1805066 byFrequency TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr16:55719143G>A ENST00000379906.2 + 4 988 c.733G>A c.(733-735)Gtc>Atc p.V245I SLC6A2_ENST00000566163.1_Missense_Mutation_p.V245I|SLC6A2_ENST00000219833.8_Missense_Mutation_p.V245I|SLC6A2_ENST00000561820.1_Missense_Mutation_p.V245I|SLC6A2_ENST00000567238.1_Missense_Mutation_p.V140I|SLC6A2_ENST00000414754.3_Missense_Mutation_p.V245I|SLC6A2_ENST00000568943.1_Missense_Mutation_p.V245I NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 245 V -> I (in dbSNP:rs1805066). synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) GATGGTCGTCGTCATCGTCTT 0.527000 19 64 0 0 1 0 0 ZRANB3 84083 broad.mit.edu 37 2 136107733 136107733 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr2:136107733C>T ENST00000401392.1 - 5 624 c.412G>A c.(412-414)Gat>Aat p.D138N ZRANB3_ENST00000264159.6_Missense_Mutation_p.D138N|ZRANB3_ENST00000536680.1_Missense_Mutation_p.D138N Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 138 Helicase ATP-binding. intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) GTCTTTGCATCTGCGGTTAAG 0.373000 5 29 0 0 1 0 0 SYMPK 8189 broad.mit.edu 37 19 46341740 46341740 + Silent SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr19:46341740C>T ENST00000245934.7 - 10 1465 c.1221G>A c.(1219-1221)acG>acA p.T407T NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 407 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) CATTATCAGGCGTCAGCAGAG 0.602000 9 22 0 0 1 0 0 SCNN1D 6339 broad.mit.edu 37 1 1226700 1226700 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr1:1226700C>T ENST00000338555.2 + 15 2771 c.1627C>T c.(1627-1629)Ctc>Ttc p.L543F SCNN1D_ENST00000325425.8_Missense_Mutation_p.L609F|SCNN1D_ENST00000400928.3_Missense_Mutation_p.L543F|SCNN1D_ENST00000379116.5_Missense_Mutation_p.L707F sodium channel, non-voltage-gated 1, delta subunit lung(6)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) CGTCCTCTCCCTCCTGGAGCT 0.721000 5 21 0 0 1 0 0 C8orf74 203076 broad.mit.edu 37 8 10555320 10555320 + Silent SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr8:10555320C>T ENST00000304519.5 + 3 482 c.453C>T c.(451-453)ctC>ctT p.L151L RP1L1_ENST00000329335.3_Intron NM_001040032.1 NP_001035121 Q6P047 CH074_HUMAN chromosome 8 open reading frame 74 151 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 COAD - Colon adenocarcinoma(149;0.0811) CCCATCCCCTCCCGCTGGCCG 0.652000 34 38 0 0 1 0 0 ANKRD12 23253 broad.mit.edu 37 18 9256067 9256067 + Missense_Mutation SNP A A C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr18:9256067A>C ENST00000262126.4 + 9 3042 c.2802A>C c.(2800-2802)aaA>aaC p.K934N ANKRD12_ENST00000383440.2_Missense_Mutation_p.K911N|ANKRD12_ENST00000400020.3_Missense_Mutation_p.K911N NM_015208.4 NP_056023.3 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 TGGAGAAAAAAAATAAACAAT 0.313000 13 20 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113168736 113168736 + Silent SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr9:113168736G>A ENST00000401783.2 - 38 9480 c.9144C>T c.(9142-9144)gcC>gcT p.A3048A SVEP1_ENST00000374469.1_Silent_p.A3025A|SVEP1_ENST00000297826.5_Silent_p.A974A NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3048 Sushi 27. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 ACTGGCCATCGGCTTCACAGG 0.498000 20 50 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9063763 9063763 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr19:9063763G>A ENST00000397910.4 - 3 23886 c.23683C>T c.(23683-23685)Cct>Tct p.P7895S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7897 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTCATGACAGGGGATGTAGAG 0.498000 40 70 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70890768 70890768 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr2:70890768G>A ENST00000264436.4 - 16 2414 c.1970C>T c.(1969-1971)aCg>aTg p.T657M ADD2_ENST00000407644.2_Missense_Mutation_p.T657M|ADD2_ENST00000355733.3_3'UTR NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding p.T657M(1) autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 TTCCTCTGCCGTCTGCTCCTC 0.572000 16 151 0 0 1 0 0 BBS9 27241 broad.mit.edu 37 7 33217147 33217147 + Missense_Mutation SNP A A G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr7:33217147A>G ENST00000242067.6 + 5 907 c.386A>G c.(385-387)cAt>cGt p.H129R BBS9_ENST00000396127.2_Missense_Mutation_p.H129R|BBS9_ENST00000355070.2_Missense_Mutation_p.H129R|BBS9_ENST00000425508.2_Missense_Mutation_p.H84R|BBS9_ENST00000350941.3_Missense_Mutation_p.H129R|BBS9_ENST00000354265.4_Missense_Mutation_p.H129R NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 129 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) ATGTATGAACATAATCTTCAG 0.343000 Bardet-Biedl syndrome 51 55 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27106539 27106539 + Nonsense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr1:27106539G>A ENST00000324856.7 + 20 6521 c.6150G>A c.(6148-6150)tgG>tgA p.W2050* ARID1A_ENST00000540690.1_Nonsense_Mutation_p.W378*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.W1833*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.W1667* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 2050 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AGTGGTGGTGGGACTGCTTGG 0.552000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 54 49 0 0 1 0 0 FAM118A 55007 broad.mit.edu 37 22 45719182 45719182 + Silent SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr22:45719182C>T ENST00000216214.3 + 4 1008 c.174C>T c.(172-174)gcC>gcT p.A58A FAM118A_ENST00000405673.1_Silent_p.A58A|FAM118A_ENST00000441876.2_Silent_p.A58A NM_001104595.1 NP_001098065.1 Q9NWS6 F118A_HUMAN family with sequence similarity 118, member A 58 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) GCATCGAGGCCGTCATCGAGG 0.642000 5 83 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39760203 39760203 + Silent SNP A A G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr12:39760203A>G ENST00000395670.3 - 6 1271 c.852T>C c.(850-852)acT>acC p.T284T KIF21A_ENST00000361418.5_Silent_p.T284T|KIF21A_ENST00000544797.2_Silent_p.T284T|KIF21A_ENST00000541463.2_Silent_p.T284T|KIF21A_ENST00000361961.3_Silent_p.T284T Q7Z4S6 KI21A_HUMAN kinesin family member 21A 284 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) CTGTAGCTCCAGTACGCTTCA 0.393000 25 53 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5904368 5904368 + Silent SNP C C T rs138422072 TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr20:5904368C>T ENST00000378961.4 + 4 1782 c.1578C>T c.(1576-1578)taC>taT p.Y526Y NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 526 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 ACCCATACTACGACCCTCTCC 0.438000 6 96 0 0 1 0 0 PMS2CL 441194 broad.mit.edu 37 7 6777303 6777303 + RNA SNP G G T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr7:6777303G>T ENST00000486256.1 + 0 1430 NR_002217.1 AGTGTTTTAAGAAAGAAGAAA 0.373000 18 53 3.41278e-10 3.72304e-10 1 1 0 PYCR1 5831 broad.mit.edu 37 17 79892987 79892987 + Missense_Mutation SNP G G A rs121918376 TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr17:79892987G>A ENST00000337943.5 - 4 797 c.355C>T c.(355-357)Cgc>Tgc p.R119C PYCR1_ENST00000403172.4_Missense_Mutation_p.R119C|PYCR1_ENST00000577756.1_Missense_Mutation_p.R119C|PYCR1_ENST00000329875.8_Missense_Mutation_p.R119C|PYCR1_ENST00000402252.2_Missense_Mutation_p.R146C NM_153824.1 NP_722546.1 P32322 P5CR1_HUMAN pyrroline-5-carboxylate reductase 1 119 R -> G (in ARCL2B).|R -> H (in ARCL2B). cellular response to oxidative stress|proline biosynthetic process mitochondrial matrix binding|pyrroline-5-carboxylate reductase activity endometrium(2)|kidney(1)|lung(1)|prostate(1) 5 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) L-Proline(DB00172)|NADH(DB00157) GTCATGCAGCGGATGACCCTG 0.647000 18 24 0 0 1 0 0 HABP4 22927 broad.mit.edu 37 9 99250477 99250477 + Missense_Mutation SNP G G A rs141094261 byFrequency TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr9:99250477G>A ENST00000375249.4 + 7 1181 c.1106G>A c.(1105-1107)cGt>cAt p.R369H HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Missense_Mutation_p.R264H NM_014282.2 NP_055097.2 Q5JVS0 HABP4_HUMAN hyaluronan binding protein 4 369 platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|extracellular region|nucleus protein binding NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214) CGTCCTGGGCGTGGAGCCAGA 0.552000 22 33 0 0 1 0 0 POU3F3 5455 broad.mit.edu 37 2 105473459 105473459 + Silent SNP G G C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr2:105473459G>C ENST00000361360.2 + 1 1491 c.1491G>C c.(1489-1491)acG>acC p.T497T RP11-13J10.1_ENST00000598623.1_RNA NM_006236.1 NP_006227.1 P20264 PO3F3_HUMAN POU class 3 homeobox 3 497 metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation nucleus sequence-specific DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 GGCTGCAGACGAGCGTTCAGT 0.766000 4 16 0 0 1 0 0 BUD13 84811 broad.mit.edu 37 11 116619253 116619253 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr11:116619253G>A ENST00000260210.4 - 10 1828 c.1805C>T c.(1804-1806)gCc>gTc p.A602V BUD13_ENST00000375445.3_Missense_Mutation_p.A468V NM_032725.3 NP_116114.1 Q9BRD0 BUD13_HUMAN BUD13 homolog (S. cerevisiae) 602 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1) 22 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) CTTCTTGCTGGCAAGCCTGGC 0.478000 24 34 0 0 1 0 0 DZANK1 55184 broad.mit.edu 37 20 18371024 18371024 + Splice_Site SNP T T G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr20:18371024T>G ENST00000357236.4 - 19 2206 c.1547A>C c.(1546-1548)gAg>gCg p.E516A DZANK1_ENST00000358866.6_Splice_Site_p.E630A|DZANK1_ENST00000329494.5_Splice_Site_p.E608A|DZANK1_ENST00000262547.5_Splice_Site_p.E630A|DZANK1_ENST00000487128.1_5'UTR Q9NVP4 CT012_HUMAN double zinc ribbon and ankyrin repeat domains 1 457 intracellular zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10) 19 AACACTTACCTCATCCAGCAG 0.483000 26 91 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141079602 141079602 + Silent SNP A A T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr2:141079602A>T ENST00000389484.3 - 82 13541 c.12570T>A c.(12568-12570)tcT>tcA p.S4190S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4190 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AAGTGGCCCCAGAAGGATTTA 0.368000 TSP Lung(27;0.18) 48 36 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32486811 32486811 + Missense_Mutation SNP A A G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chrX:32486811A>G ENST00000357033.4 - 23 3172 c.2966T>C c.(2965-2967)cTg>cCg p.L989P DMD_ENST00000378677.2_Missense_Mutation_p.L985P NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 989 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTGCTCTTGCAGAGAACTTTG 0.328000 14 50 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133539920 133539920 + Missense_Mutation SNP T T G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr2:133539920T>G ENST00000409261.1 - 14 4837 c.4464A>C c.(4462-4464)caA>caC p.Q1488H NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.Q1488H|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1488 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TTGTTTGCACTTGGCCCTTTT 0.507000 11 108 0 0 1 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659741 24659741 + RNA SNP G G A rs144618782 by1000genomes TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr22:24659741G>A ENST00000414583.2 + 0 3266 NR_003714.1 CTGTGGGAGGGGGGAATGTTC 0.622000 3 16 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7797579 7797579 + Missense_Mutation SNP G G T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr17:7797579G>T ENST00000380358.4 + 7 1249 c.1248G>T c.(1246-1248)aaG>aaT p.K416N CHD3_ENST00000330494.7_Missense_Mutation_p.K357N|CHD3_ENST00000358181.4_Missense_Mutation_p.K357N NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 357 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) GGAAGAAGAAGAAGGGTAAGG 0.532000 11 45 1.58986e-06 1.68339e-06 1 1 0 F5 2153 broad.mit.edu 37 1 169487767 169487767 + Missense_Mutation SNP C C G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr1:169487767C>G ENST00000367796.3 - 23 6444 c.6243G>C c.(6241-6243)aaG>aaC p.K2081N F5_ENST00000367797.3_Missense_Mutation_p.K2076N P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 2076 F5/8 type C 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TGTTTTCTATCTTTCCATTTT 0.448000 5 40 0 0 1 0 0 DGKQ 1609 broad.mit.edu 37 4 961427 961427 + Silent SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr4:961427C>T ENST00000273814.3 - 8 970 c.897G>A c.(895-897)acG>acA p.T299T NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa 299 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) AGATCTTCAGCGTTTGCTTCC 0.667000 14 16 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50721182 50721182 + Missense_Mutation SNP T T G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr22:50721182T>G ENST00000449103.1 - 18 3085 c.2945A>C c.(2944-2946)aAc>aCc p.N982T PLXNB2_ENST00000359337.4_Missense_Mutation_p.N982T O15031 PLXB2_HUMAN plexin B2 982 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CAGTACGGGGTTTTCGCGGTA 0.677000 7 16 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39472816 39472816 + Silent SNP G G T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr7:39472816G>T ENST00000518318.2 + 7 1209 c.1167G>T c.(1165-1167)ggG>ggT p.G389G POU6F2_ENST00000559001.1_Silent_p.G334G|POU6F2_ENST00000403058.1_Silent_p.G389G P78424 PO6F2_HUMAN POU class 6 homeobox 2 389 Gln-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 CAGTCATTGGGAACCAGATCC 0.612000 12 76 5.50884e-06 5.77626e-06 1 1 0 IGJ 3512 broad.mit.edu 37 4 71522981 71522981 + Silent SNP G G T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr4:71522981G>T ENST00000254801.4 - 3 385 c.216C>A c.(214-216)atC>atA p.I72I ENAM_ENST00000472903.1_Intron|IGJ_ENST00000543780.1_Silent_p.I88I NM_144646.3 NP_653247.1 P01591 IGJ_HUMAN immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides 72 immune response extracellular region antigen binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 Lung(101;0.235) TGGGATCAGAGATATTCTCCC 0.323000 18 70 1.96292e-10 2.16322e-10 1 1 0 CA12 771 broad.mit.edu 37 15 63637770 63637770 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr15:63637770C>T ENST00000178638.3 - 4 775 c.335G>A c.(334-336)cGc>cAc p.R112H CA12_ENST00000344366.3_Missense_Mutation_p.R112H|CA12_ENST00000422263.2_Missense_Mutation_p.R52H NM_001218.3 NP_001209.1 O43570 CAH12_HUMAN carbonic anhydrase XII 112 one-carbon metabolic process integral to membrane carbonate dehydratase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 16 Acetazolamide(DB00819) GGCACTGTAGCGAGACTGGAG 0.657000 3 18 0 0 1 0 0 SNAPC4 6621 broad.mit.edu 37 9 139273307 139273307 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr9:139273307G>A ENST00000298532.2 - 21 3340 c.2972C>T c.(2971-2973)cCt>cTt p.P991L NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 991 Pro-rich. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) TGAGAAGACAGGAGCGAGGGG 0.667000 7 7 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61622120 61622120 + Missense_Mutation SNP C C A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr2:61622120C>A ENST00000398571.2 - 5 697 c.621G>T c.(619-621)ttG>ttT p.L207F NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 207 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) GAAGCAAATGCAATGGTACTT 0.328000 4 57 0.184627 0.184627 1 1 0 PCDHA9 9752 broad.mit.edu 37 5 140229587 140229587 + Missense_Mutation SNP T T G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr5:140229587T>G ENST00000378122.3 + 1 2231 c.1507T>G c.(1507-1509)Tcg>Gcg p.S503A PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.S503A NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCGAGCGCTCGCTGTCGAG 0.672000 30 167 0 0 1 0 0 ANO5 203859 broad.mit.edu 37 11 22249087 22249087 + Silent SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr11:22249087C>T ENST00000324559.8 + 7 920 c.603C>T c.(601-603)atC>atT p.I201I NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 201 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TCTTCCTCATCGAAGATCAGG 0.453000 25 61 0 0 1 0 0 BMP15 9210 broad.mit.edu 37 X 50659529 50659529 + Silent SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chrX:50659529C>T ENST00000252677.3 + 2 1101 c.1101C>T c.(1099-1101)gtC>gtT p.V367V NM_005448.2 NP_005439.2 O95972 BMP15_HUMAN bone morphogenetic protein 15 367 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) CAATTAGTGTCCTTATGATTG 0.463000 25 97 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7580718 7580718 + Missense_Mutation SNP A A C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr6:7580718A>C ENST00000379802.3 + 23 4636 c.4295A>C c.(4294-4296)cAg>cCg p.Q1432P DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1432 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GACATCCAACAGCAAAAGGCC 0.488000 19 63 0 0 1 0 0 TOP1 7150 broad.mit.edu 37 20 39728847 39728847 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr20:39728847G>A ENST00000361337.2 + 12 1377 c.1127G>A c.(1126-1128)cGa>cAa p.R376Q RP1-1J6.2_ENST00000454626.1_RNA NM_003286.2 NP_003277.1 P11387 TOP1_HUMAN topoisomerase (DNA) I 376 DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) CTGAAGAGACGAATCATGCCC 0.507000 T NUP98 AML* 24 27 0 0 1 0 0 GDF11 10220 broad.mit.edu 37 12 56143622 56143622 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr12:56143622G>A ENST00000257868.5 + 3 1217 c.1180G>A c.(1180-1182)Ggc>Agc p.G394S NM_005811.3 NP_005802.1 O95390 GDF11_HUMAN growth differentiation factor 11 394 growth|mesoderm development|skeletal system development extracellular space cytokine activity|growth factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1) 12 GATTATCTACGGCAAGATCCC 0.572000 34 133 0 0 1 0 0 CYP26C1 340665 broad.mit.edu 37 10 94821038 94821038 + Silent SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr10:94821038G>A ENST00000285949.5 + 1 18 c.18G>A c.(16-18)ctG>ctA p.L6L NM_183374.2 NP_899230.2 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, polypeptide 1 6 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1)|lung(3)|ovary(1) 5 Colorectal(252;0.122) CTTGGGGGCTGAGCTGCCTGT 0.711000 6 4 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229323 140229323 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr5:140229323C>T ENST00000378122.3 + 1 1967 c.1243C>T c.(1243-1245)Cgc>Tgc p.R415C PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.R415C NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCTCTGGACCGCGAGAGTGT 0.642000 33 125 0 0 1 0 0 RGAG4 340526 broad.mit.edu 37 X 71351227 71351227 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chrX:71351227C>T ENST00000545866.1 - 1 531 c.164G>A c.(163-165)cGc>cAc p.R55H NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.R55H NM_001024455.3 NP_001019626.1 Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 55 cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) TACTGGCCAGCGGATGTAGCT 0.587000 19 50 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51192160 51192160 + Missense_Mutation SNP C C A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr19:51192160C>A ENST00000293441.1 - 16 2131 c.2113G>T c.(2113-2115)Gtg>Ttg p.V705L SHANK1_ENST00000391813.1_Missense_Mutation_p.V92L|SHANK1_ENST00000359082.3_Missense_Mutation_p.V696L|SHANK1_ENST00000391814.1_Missense_Mutation_p.V705L NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 705 PDZ. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CCCTCGTCCACCGACTCCAGG 0.682000 3 7 0.115264 0.116341 1 1 0 NSUN7 79730 broad.mit.edu 37 4 40752759 40752759 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr4:40752759G>A ENST00000381782.2 + 2 544 c.49G>A c.(49-51)Gag>Aag p.E17K NSUN7_ENST00000316607.5_Missense_Mutation_p.E17K NM_024677.4 NP_078953 NOP2/Sun domain family, member 7 NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 AGAAGATCCCGAGATCATCTC 0.552000 23 46 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95579563 95579563 + Splice_Site SNP T T A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr14:95579563T>A ENST00000526495.1 - 14 2199 c.e14-2 DICER1_ENST00000527414.1_Splice_Site|DICER1_ENST00000541352.1_Splice_Site|DICER1_ENST00000393063.1_Splice_Site|DICER1_ENST00000343455.3_Splice_Site Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) GCACAGTATCTGTGAAGAAAA 0.378000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 23 55 0 0 1 0 0 CEP170P1 645455 broad.mit.edu 37 4 119475153 119475153 + RNA SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr4:119475153C>T ENST00000412784.2 + 0 864 NR_003135.2 CTGTTTCAGCCGCAGCTGAAT 0.473000 10 2 0 0 1 0 0 ZHX2 22882 broad.mit.edu 37 8 123965291 123965291 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr8:123965291C>T ENST00000314393.4 + 3 2376 c.1541C>T c.(1540-1542)gCg>gTg p.A514V NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 514 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) TTGGCCATCGCGGCCTCCCGA 0.537000 33 18 0 0 1 0 0 TLE1 7088 broad.mit.edu 37 9 84300624 84300624 + Missense_Mutation SNP C C A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr9:84300624C>A ENST00000376499.3 - 4 1265 c.201G>T c.(199-201)atG>atT p.M67I TLE1_ENST00000376463.1_Missense_Mutation_p.M11I|TLE1_ENST00000376472.1_5'UTR NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 67 Gln-rich. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 ATCCATATGACATTTCATAAT 0.294000 5 11 5.9392e-07 6.35083e-07 1 1 0 ILVBL 10994 broad.mit.edu 37 19 15226826 15226826 + Missense_Mutation SNP G G A rs141415835 by1000genomes TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr19:15226826G>A ENST00000263383.3 - 13 1667 c.1528C>T c.(1528-1530)Cgg>Tgg p.R510W ILVBL_ENST00000534378.1_Missense_Mutation_p.R403W NM_006844.3 NP_006835.2 A1L0T0 ILVBL_HUMAN ilvB (bacterial acetolactate synthase)-like 510 Thiamine pyrophosphate binding (By similarity). R -> Q (in dbSNP:rs35548653). integral to membrane magnesium ion binding|thiamine pyrophosphate binding|transferase activity NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1) 26 GCATCTGGCCGGCACAGCTTG 0.597000 4 44 0 0 1 0 0 WDR81 124997 broad.mit.edu 37 17 1631759 1631759 + Missense_Mutation SNP A A G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr17:1631759A>G ENST00000409644.1 + 1 3506 c.3506A>G c.(3505-3507)gAg>gGg p.E1169G WDR81_ENST00000309182.5_Missense_Mutation_p.E118G|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000419248.1_Intron NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 0 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) gaggaggaggagggggagcag 0.632000 4 30 0 0 1 0 0 SNRPG 6637 broad.mit.edu 37 2 70515288 70515288 + Nonsense_Mutation SNP A A T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr2:70515288A>T ENST00000482975.2 - 3 823 c.56T>A c.(55-57)tTg>tAg p.L19* SNRPG_ENST00000438261.1_Nonsense_Mutation_p.L19*|SNRPG_ENST00000272348.2_Nonsense_Mutation_p.L31*|SNRPG_ENST00000429728.1_5'UTR|SNRPG_ENST00000449935.2_Nonsense_Mutation_p.L19*|SNRPG_ENST00000454893.1_Nonsense_Mutation_p.L31*|SNRPG_ENST00000413456.2_Nonsense_Mutation_p.L23* P62308 RUXG_HUMAN small nuclear ribonucleoprotein polypeptide G 31 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding endometrium(1) 1 AAATCCCCGCAATATTCCTTG 0.358000 6 100 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149508082 149508082 + RNA SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr7:149508082G>A ENST00000378016.2 + 0 9476 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ACTGTGGTTCGTCCATGTGAA 0.607000 12 36 0 0 1 0 0 CTSW 1521 broad.mit.edu 37 11 65649734 65649734 + Silent SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr11:65649734G>A ENST00000528419.1 + 4 379 c.375G>A c.(373-375)gaG>gaA p.E125E CTSW_ENST00000307886.3_Silent_p.E125E P56202 CATW_HUMAN cathepsin W 125 immune response|proteolysis cysteine-type endopeptidase activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5) 9 READ - Rectum adenocarcinoma(159;0.168) AAGAGCCAGAGGAGTCAGTAC 0.582000 21 120 0 0 1 0 0 OR5M8 219484 broad.mit.edu 37 11 56258428 56258428 + Missense_Mutation SNP C C A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr11:56258428C>A ENST00000327216.2 - 1 443 c.419G>T c.(418-420)tGc>tTc p.C140F NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) GAGGAAGGAGCACACACTCTT 0.522000 29 44 1.17739e-12 1.31091e-12 1 1 0 FER1L5 90342 broad.mit.edu 37 2 97370381 97370381 + RNA SNP A A G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr2:97370381A>G ENST00000457909.1 + 0 5629 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 CAGGACCCACAAATCACCTGA 0.527000 41 57 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112670808 112670808 + Splice_Site SNP C C G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr12:112670808C>G ENST00000550722.1 - 38 5954 c.5559G>C c.(5557-5559)aaG>aaC p.K1853N HECTD4_ENST00000377560.5_Splice_Site_p.K1827N|HECTD4_ENST00000430131.2_Splice_Site_p.K1577N NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 ATGAGGTTACCTTGGTCATGT 0.403000 7 6 0 0 1 0 0 TBX22 50945 broad.mit.edu 37 X 79283540 79283540 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chrX:79283540C>T ENST00000442340.1 + 8 1044 c.554C>T c.(553-555)aCt>aTt p.T185I TBX22_ENST00000373296.3_Missense_Mutation_p.T305I|TBX22_ENST00000373291.1_Missense_Mutation_p.T185I|TBX22_ENST00000373294.5_Missense_Mutation_p.T305I NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 305 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 CCTTCTTTCACTCTCGATTTT 0.383000 11 15 0 0 1 0 0 GTPBP8 29083 broad.mit.edu 37 3 112715770 112715770 + Missense_Mutation SNP G G C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr3:112715770G>C ENST00000383677.3 + 3 514 c.499G>C c.(499-501)Gtt>Ctt p.V167L GTPBP8_ENST00000383678.2_Missense_Mutation_p.V200L|GTPBP8_ENST00000473129.1_Missense_Mutation_p.V50L|GTPBP8_ENST00000467752.1_Missense_Mutation_p.V89L NM_138485.1 NP_612494.1 Q8N3Z3 GTPB8_HUMAN GTP-binding protein 8 (putative) 200 G. barrier septum formation GTP binding kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 6 AGTGGATAGCGTTGTTGGAAT 0.318000 6 64 0 0 1 0 0 SNIP1 79753 broad.mit.edu 37 1 38018319 38018319 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr1:38018319G>A ENST00000296215.6 - 2 326 c.254C>T c.(253-255)tCa>tTa p.S85L SNIP1_ENST00000468040.1_5'UTR NM_024700.3 NP_078976.2 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 1 85 Arg-rich. production of miRNAs involved in gene silencing by miRNA nucleus protein binding breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 25 Myeloproliferative disorder(586;0.0393) TCTTCTCCCTGAGGCCTTGTT 0.458000 82 162 0 0 1 0 0 ZNF354A 6940 broad.mit.edu 37 5 178139989 178139989 + Missense_Mutation SNP G G C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr5:178139989G>C ENST00000335815.2 - 5 1087 c.890C>G c.(889-891)tCc>tGc p.S297C NM_005649.2 NP_005640.2 O60765 Z354A_HUMAN zinc finger protein 354A 297 regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2) 19 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) ACATCTGTAGGATTTCTCCAC 0.378000 24 78 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25349680 25349680 + RNA SNP G G T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr15:25349680G>T ENST00000546682.1 + 0 2150 SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 GCTGGTCATTGTGCTGCTGGT 0.448000 4 25 0.00909568 0.0092673 1 1 0 TPO 7173 broad.mit.edu 37 2 1544451 1544451 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr2:1544451G>A ENST00000345913.4 + 16 2795 c.2704G>A c.(2704-2706)Gta>Ata p.V902I TPO_ENST00000382198.1_Missense_Mutation_p.V729I|TPO_ENST00000329066.4_Missense_Mutation_p.V902I|TPO_ENST00000382201.3_Missense_Mutation_p.V845I|TPO_ENST00000349624.3_Missense_Mutation_p.V729I|TPO_ENST00000346956.3_Missense_Mutation_p.V858I|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Intron NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 902 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity p.V902I(1) breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GCACCAGGCCGTAGGGACCTC 0.637000 27 73 0 0 1 0 0 CADM4 199731 broad.mit.edu 37 19 44127538 44127538 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr19:44127538C>T ENST00000222374.2 - 9 1159 c.1111G>A c.(1111-1113)Gaa>Aaa p.E371K NM_145296.1 NP_660339.1 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 371 cell adhesion integral to membrane endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 12 Prostate(69;0.0199) AGGAAGGCTTCTCTTGCTTCT 0.592000 42 128 0 0 1 0 0 ABCC2 1244 broad.mit.edu 37 10 101571351 101571351 + Silent SNP A A T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr10:101571351A>T ENST00000370449.4 + 15 2072 c.1959A>T c.(1957-1959)acA>acT p.T653T NM_000392.3 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 653 ABC transporter 1. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CGGAAGCCACAGTCCGAGAGT 0.453000 36 37 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70953310 70953310 + Missense_Mutation SNP G G T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr12:70953310G>T ENST00000334414.6 - 18 4571 c.4527C>A c.(4525-4527)aaC>aaA p.N1509K PTPRB_ENST00000550857.1_Missense_Mutation_p.N1201K|PTPRB_ENST00000550358.1_Missense_Mutation_p.N1421K|PTPRB_ENST00000261266.5_Missense_Mutation_p.N1291K|PTPRB_ENST00000538708.1_Missense_Mutation_p.N1201K|PTPRB_ENST00000451516.2_Missense_Mutation_p.N1201K|PTPRB_ENST00000551525.1_Missense_Mutation_p.N1508K NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1291 Fibronectin type-III 17. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GCTCAAAGTCGTTGTAGTCTG 0.493000 66 196 5.00936e-31 5.69485e-31 1 1 0 ZIC1 7545 broad.mit.edu 37 3 147128234 147128234 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr3:147128234C>T ENST00000282928.4 + 1 1064 c.335C>T c.(334-336)gCg>gTg p.A112V NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 112 Poly-Ala. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 GACGCGGCGGCGGCAGCCAGC 0.701000 7 70 0 0 1 0 0 FPGT 8790 broad.mit.edu 37 1 74670509 74670509 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr1:74670509G>A ENST00000609362.1 + 4 815 c.778G>A c.(778-780)Gat>Aat p.D260N FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000534056.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.D273N|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370894.5_Intron NM_003838.4 NP_003829.3 fucose-1-phosphate guanylyltransferase breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 39 TGACATTGCCGATCTTAAATT 0.358000 29 60 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3633236 3633236 + Missense_Mutation SNP T T C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr16:3633236T>C ENST00000294008.3 - 14 5655 c.5015A>G c.(5014-5016)cAt>cGt p.H1672R RP11-461A8.1_ENST00000573982.1_lincRNA NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1672 Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 GATGCTTTCATGATGCTTCCT 0.627000 Direct reversal of damage 54 57 0 0 1 0 0 SEMA6D 80031 broad.mit.edu 37 15 48052549 48052549 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr15:48052549C>T ENST00000316364.5 + 3 597 c.158C>T c.(157-159)tCg>tTg p.S53L SEMA6D_ENST00000358066.4_Missense_Mutation_p.S53L|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S53L|SEMA6D_ENST00000389425.3_Missense_Mutation_p.S53L|SEMA6D_ENST00000355997.3_Missense_Mutation_p.S53L|SEMA6D_ENST00000558816.1_Missense_Mutation_p.S53L|SEMA6D_ENST00000389428.3_Missense_Mutation_p.S53L|SEMA6D_ENST00000389432.2_Missense_Mutation_p.S53L|SEMA6D_ENST00000389433.2_Missense_Mutation_p.S53L|SEMA6D_ENST00000537942.1_Missense_Mutation_p.S53L|SEMA6D_ENST00000354744.4_Missense_Mutation_p.S53L|SEMA6D_ENST00000558014.1_Missense_Mutation_p.S53L NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 53 Sema. axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) GGCAATGAATCGCAGCACAGG 0.408000 9 50 0 0 1 0 0 TP53BP2 7159 broad.mit.edu 37 1 223984139 223984139 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr1:223984139C>T ENST00000391878.2 - 14 2483 c.1715G>A c.(1714-1716)cGg>cAg p.R572Q TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.R701Q NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 695 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) GCTGAGTGGCCGAGGAATTCT 0.448000 91 102 0 0 1 0 0 IPO9 55705 broad.mit.edu 37 1 201828120 201828120 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr1:201828120C>T ENST00000361565.4 + 13 1535 c.1466C>T c.(1465-1467)tCa>tTa p.S489L NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 489 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 CTCAACCTCTCAGGTATGTTT 0.463000 14 39 0 0 1 0 0 APOC3 345 broad.mit.edu 37 11 116701559 116701559 + Silent SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr11:116701559C>T ENST00000375345.1 + 3 242 c.180C>T c.(178-180)acC>acT p.T60T APOC3_ENST00000227667.3_Silent_p.T42T|APOC3_ENST00000470144.1_3'UTR P02656 APOC3_HUMAN apolipoprotein C-III 42 Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding endometrium(1)|lung(6) 7 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) CCACCAAGACCGCCAAGGATG 0.647000 6 17 0 0 1 0 0 PRKD2 25865 broad.mit.edu 37 19 47197163 47197163 + Silent SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr19:47197163G>A ENST00000433867.1 - 11 2022 c.1545C>T c.(1543-1545)gaC>gaT p.D515D PRKD2_ENST00000601806.1_Silent_p.D358D|PRKD2_ENST00000291281.4_Silent_p.D515D|PRKD2_ENST00000595515.1_Silent_p.D515D|PRKD2_ENST00000600194.1_Silent_p.D358D NM_001079880.1|NM_001079881.1|NM_016457.4 NP_001073349|NP_001073350|NP_057541 Q9BZL6 KPCD2_HUMAN protein kinase D2 515 cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) CGCTGGGTGCGTCCTGAAGGA 0.687000 19 57 0 0 1 0 0 KLK12 43849 broad.mit.edu 37 19 51535178 51535178 + Silent SNP G G T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr19:51535178G>T ENST00000525263.1 - 3 530 c.411C>A c.(409-411)ggC>ggA p.G137G KLK12_ENST00000529888.1_Intron|KLK12_ENST00000250351.4_Silent_p.G137G|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000250352.11_Intron|KLK12_ENST00000319590.4_Silent_p.G137G Q9UKR0 KLK12_HUMAN kallikrein-related peptidase 12 137 Peptidase S1. proteolysis extracellular region|soluble fraction serine-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 12 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399) GGCACTCGGTGCCAGCGGTTG 0.677000 32 87 5.60225e-13 6.30253e-13 1 1 0 SNRPG 6637 broad.mit.edu 37 2 70515306 70515306 + Missense_Mutation SNP C C A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr2:70515306C>A ENST00000482975.2 - 3 805 c.38G>T c.(37-39)aGa>aTa p.R13I SNRPG_ENST00000438261.1_Missense_Mutation_p.R13I|SNRPG_ENST00000272348.2_Missense_Mutation_p.R25I|SNRPG_ENST00000429728.1_5'UTR|SNRPG_ENST00000449935.2_Missense_Mutation_p.R13I|SNRPG_ENST00000454893.1_Missense_Mutation_p.R25I|SNRPG_ENST00000413456.2_Missense_Mutation_p.R17I P62308 RUXG_HUMAN small nuclear ribonucleoprotein polypeptide G 25 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding endometrium(1) 1 TTGGACATGTCTGCCACCATT 0.363000 5 83 0.000602214 0.000625376 1 1 0 TUBBP5 643224 broad.mit.edu 37 9 141070125 141070125 + RNA SNP C C T rs10867114 by1000genomes TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr9:141070125C>T ENST00000503395.1 + 0 1205 CGCTCGGGGCCCTTCGGGCAG 0.672000 5 54 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70515701 70515701 + Silent SNP G G A rs149109491 byFrequency TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr14:70515701G>A ENST00000381269.2 - 7 2943 c.2190C>T c.(2188-2190)taC>taT p.Y730Y SLC8A3_ENST00000528359.1_Silent_p.Y728Y|SLC8A3_ENST00000216568.7_Silent_p.Y101Y|SLC8A3_ENST00000394330.2_Silent_p.Y87Y|SLC8A3_ENST00000357887.3_Silent_p.Y728Y|SLC8A3_ENST00000533541.1_Silent_p.Y87Y|SLC8A3_ENST00000356921.2_Silent_p.Y724Y|SLC8A3_ENST00000534137.1_Silent_p.Y727Y NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 730 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) AGTGCATGACGTAGTCAAAGC 0.572000 28 43 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92623737 92623737 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr11:92623737G>A ENST00000298047.6 + 27 13245 c.13228G>A c.(13228-13230)Gat>Aat p.D4410N FAT3_ENST00000533797.1_Missense_Mutation_p.D713N|FAT3_ENST00000409404.2_Missense_Mutation_p.D4378N|FAT3_ENST00000525166.1_Missense_Mutation_p.D4260N|FAT3_ENST00000489716.1_3'UTR Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4410 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGAGAACCAGGATGGAGGGTC 0.547000 TCGA Ovarian(4;0.039) 11 24 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 72889512 72889512 + Missense_Mutation SNP A A T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr6:72889512A>T ENST00000264839.7 + 5 706 c.706A>T c.(706-708)Agc>Tgc p.S236C RIMS1_ENST00000517960.1_Missense_Mutation_p.S236C|RIMS1_ENST00000491071.2_Missense_Mutation_p.S236C|RIMS1_ENST00000518273.1_Missense_Mutation_p.S236C|RIMS1_ENST00000522291.1_Missense_Mutation_p.S236C|RIMS1_ENST00000521978.1_Missense_Mutation_p.S236C|RIMS1_ENST00000520567.1_Missense_Mutation_p.S236C|RIMS1_ENST00000348717.5_Missense_Mutation_p.S236C Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 236 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) TGCTCCTCCCAGCGCACCACC 0.587000 41 22 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228104885 228104885 + Silent SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr2:228104885C>T ENST00000396578.3 + 3 333 c.171C>T c.(169-171)ccC>ccT p.P57P AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 57 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CTGGACCCCCCGGTTCTCCTG 0.517000 14 2 0 0 1 0 0 PRR7 80758 broad.mit.edu 37 5 176882976 176882976 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr5:176882976C>T ENST00000323249.3 + 4 1169 c.679C>T c.(679-681)Cca>Tca p.P227S PRR7_ENST00000510492.1_Missense_Mutation_p.P227S|PRR7_ENST00000502922.1_Missense_Mutation_p.P227S NM_030567.4 NP_085044.2 Q8TB68 PRR7_HUMAN proline rich 7 (synaptic) 227 Pro-rich. cell junction|integral to membrane|postsynaptic membrane all_cancers(89;1.51e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCGCCCTGCCCAGCCCTCTG 0.746000 7 5 0 0 1 0 0 FIBIN 387758 broad.mit.edu 37 11 27016101 27016101 + Missense_Mutation SNP A A C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr11:27016101A>C ENST00000318627.2 + 1 474 c.28A>C c.(28-30)Agt>Cgt p.S10R NM_203371.1 NP_976249.1 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog (zebrafish) 10 extracellular region|Golgi apparatus breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1) 11 CTTCTGCATGAGTTTCTTCTG 0.527000 36 25 0 0 1 0 0 C10orf12 26148 broad.mit.edu 37 10 98743230 98743230 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr10:98743230G>A ENST00000286067.2 + 1 2190 c.2083G>A c.(2083-2085)Gag>Aag p.E695K NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 695 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) GAAAGATGATGAGAGTGATGC 0.517000 14 55 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233314848 233314848 + Missense_Mutation SNP T T C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr1:233314848T>C ENST00000258229.9 - 16 3374 c.3140A>G c.(3139-3141)cAt>cGt p.H1047R PCNXL2_ENST00000488780.2_Missense_Mutation_p.H180R NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) ACGGCTCAGATGGTAAGAAAG 0.527000 16 44 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11325227 11325227 + Splice_Site SNP A A G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr19:11325227A>G ENST00000294618.7 - 33 4215 c.e33+1 DOCK6_ENST00000319867.7_Splice_Site|CTC-510F12.2_ENST00000588634.1_RNA NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 ATCAAGCCCTACCTGCACGAT 0.557000 24 27 0 0 1 0 0 C9orf171 389799 broad.mit.edu 37 9 135374123 135374123 + Silent SNP C C G rs149842561 byFrequency TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr9:135374123C>G ENST00000343036.2 + 3 393 c.345C>G c.(343-345)ccC>ccG p.P115P C9orf171_ENST00000393216.2_Silent_p.P79P|C9orf171_ENST00000393215.3_Silent_p.P79P NM_207417.1 NP_997300.1 Q6ZQR2 CI171_HUMAN chromosome 9 open reading frame 171 115 large_intestine(7)|lung(9)|ovary(4)|prostate(3) 23 ACAGTCTGCCCGGCATTAATT 0.552000 4 8 0 0 1 0 0 IGSF5 150084 broad.mit.edu 37 21 41142905 41142905 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr21:41142905G>A ENST00000380588.4 + 4 584 c.481G>A c.(481-483)Gtt>Att p.V161I IGSF5_ENST00000479378.1_3'UTR NM_001080444.1 NP_001073913.1 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily, member 5 161 Ig-like V-type 2. integral to membrane|tight junction breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) ACCTTGTGAAGTTACTTGTCT 0.468000 34 46 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119115032 119115032 + Missense_Mutation SNP C C G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr9:119115032C>G ENST00000328252.3 + 16 4381 c.4012C>G c.(4012-4014)Cca>Gca p.P1338A PAPPA_ENST00000534838.1_Missense_Mutation_p.P376A NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1338 Sushi 2. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GTGGTCCTTCCCAGAGGCCCT 0.602000 24 21 0 0 1 0 0 RBM17 84991 broad.mit.edu 37 10 6139098 6139098 + Frame_Shift_Del DEL A A - TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr10:6139098delA ENST00000446108.1 + 2 714 c.70delA c.(70-72)aaafs p.K24fs RBM17_ENST00000379888.4_Frame_Shift_Del_p.K24fs NM_001145547.1 NP_001139019.1 Q96I25 SPF45_HUMAN RNA binding motif protein 17 24 mRNA processing|RNA splicing spliceosomal complex nucleotide binding|protein binding|RNA binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 19 CAAAAACTTCAAACTTCTGCA 0.478 32 101 --- --- --- --- NTF3 4908 broad.mit.edu 37 12 5603608 5603609 + Frame_Shift_Ins INS - - C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr12:5603608_5603609insC ENST00000423158.3 + 2 479_480 c.267_268insC c.(268-270)cccfs p.P90fs NTF3_ENST00000331010.6_Frame_Shift_Ins_p.P77fs|NTF3_ENST00000535299.1_Intron NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 77 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 AGCGGGGAGGGCCCGCCAAGTC 0.579 37 87 --- --- --- --- RANGAP1 5905 broad.mit.edu 37 22 41650469 41650471 + In_Frame_Del DEL TCC TCC - TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr22:41650469_41650471delTCC ENST00000455915.2 - 10 2570_2572 c.1101_1103delGGA c.(1099-1104)gaggaa>gaa p.367_368EE>E RANGAP1_ENST00000407260.4_In_Frame_Del_p.312_313EE>E|RANGAP1_ENST00000405486.1_In_Frame_Del_p.367_368EE>E|RANGAP1_ENST00000356244.3_In_Frame_Del_p.367_368EE>E P46060 RAGP1_HUMAN Ran GTPase activating protein 1 367 Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ctcttctccttcctcctcctcct 0.562 8 120 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145109312 145109313 + RNA INS - - A rs148903206 TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr1:145109312_145109313insA ENST00000453618.1 + 0 512 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding aaaccaaaaacaaaAAAAAAAG 0.416 3 5 --- --- --- --- RAB11FIP1 80223 broad.mit.edu 37 8 37728933 37728933 + Frame_Shift_Del DEL T T - TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr8:37728933delT ENST00000330843.4 - 4 3399 c.3387delA c.(3385-3387)aaafs p.K1129fs RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 1129 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CTGCTGTGGCTTTTTTTTGAG 0.542 OREG0018713 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 1304 --- --- --- --- FGFR1 2260 broad.mit.edu 37 8 38285914 38285916 + In_Frame_Del DEL TCA TCA - TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr8:38285914_38285916delTCA ENST00000447712.2 - 4 1337_1339 c.396_398delTGA c.(394-399)gatgac>gac p.132_133DD>D FGFR1_ENST00000532791.1_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000397108.4_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000356207.5_In_Frame_Del_p.43_44DD>D|FGFR1_ENST00000397113.2_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000397103.1_In_Frame_Del_p.43_44DD>D|FGFR1_ENST00000341462.5_In_Frame_Del_p.135_136DD>D|FGFR1_ENST00000335922.5_In_Frame_Del_p.124_125DD>D|FGFR1_ENST00000326324.6_In_Frame_Del_p.43_44DD>D|FGFR1_ENST00000425967.3_In_Frame_Del_p.165_166DD>D|FGFR1_ENST00000397091.5_In_Frame_Del_p.132_133DD>D NM_001174063.1|NM_015850.3|NM_023110.2 NP_001167534.1|NP_056934.2|NP_075598.2 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 132 axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity p.D133N(3)|p.D44N(1) FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) TGAAGAGGAGtcatcatcatcat 0.498 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 7 259 --- --- --- --- RBM17 84991 broad.mit.edu 37 10 6139098 6139098 + Frame_Shift_Del DEL A A - TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr10:6139098delA ENST00000446108.1 + 2 714 c.70delA c.(70-72)aaafs p.K24fs RBM17_ENST00000379888.4_Frame_Shift_Del_p.K24fs NM_001145547.1 NP_001139019.1 Q96I25 SPF45_HUMAN RNA binding motif protein 17 24 mRNA processing|RNA splicing spliceosomal complex nucleotide binding|protein binding|RNA binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 19 CAAAAACTTCAAACTTCTGCA 0.478 32 101 --- --- --- --- NTF3 4908 broad.mit.edu 37 12 5603608 5603609 + Frame_Shift_Ins INS - - C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr12:5603608_5603609insC ENST00000423158.3 + 2 479_480 c.267_268insC c.(268-270)cccfs p.P90fs NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Frame_Shift_Ins_p.P77fs NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 77 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 AGCGGGGAGGGCCCGCCAAGTC 0.579 37 87 --- --- --- --- SLFN12 55106 broad.mit.edu 37 17 33749492 33749493 + Frame_Shift_Ins INS - - A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-11A-21D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 32082b44-c263-4b92-bdc7-937d36e31165 g.chr17:33749492_33749493insA ENST00000394562.1 - 4 1078_1079 c.555_556insT c.(553-558)tttgatfs p.D186fs SLFN12_ENST00000452764.3_Frame_Shift_Ins_p.D186fs|SLFN12_ENST00000304905.5_Frame_Shift_Ins_p.D186fs Q8IYM2 SLN12_HUMAN schlafen family member 12 186 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TCTGTTCTATCAAAAAAAACCC 0.366 42 90 --- --- --- ---