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 CLDN18 51208 broad.mit.edu 37 3 137742593 137742593 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:137742593G>A ENST00000183605.5 + 2 540 c.314G>A c.(313-315)cGc>cAc p.R105H CLDN18_ENST00000343735.4_Missense_Mutation_p.R105H NM_016369.3 NP_057453.1 P56856 CLD18_HUMAN claudin 18 105 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity p.R105H(1) endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 6 AAATGCATCCGCATTGGCAGC 0.557000 17 41 0 0 0.033300 0 0 AMOTL1 154810 broad.mit.edu 37 11 94532826 94532826 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:94532826G>A ENST00000433060.2 + 3 611 c.470G>A c.(469-471)cGc>cAc p.R157H AMOTL1_ENST00000317829.8_Missense_Mutation_p.R107H|AMOTL1_ENST00000317837.9_Missense_Mutation_p.R157H NM_130847.2 NP_570899.1 Q8IY63 AMOL1_HUMAN angiomotin like 1 157 cytoplasm|tight junction identical protein binding p.R157H(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 36 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) CAGTCAGCACGCCAAGAACCG 0.547000 5 18 0 0 0.014758 0 0 HTR1E 3354 broad.mit.edu 37 6 87726029 87726029 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:87726029C>A ENST00000305344.4 + 2 1680 c.977C>A c.(976-978)gCc>gAc p.A326D HTR1E_ENST00000369584.1_Missense_Mutation_p.A326D NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 326 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity p.A326D(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) TCGGAAGTGGCCGACTTTCTG 0.448000 59 83 6.26901e-30 1.05763e-29 0.014410 1 0 MUC16 94025 broad.mit.edu 37 19 9046894 9046894 + Silent SNP A A G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:9046894A>G ENST00000397910.4 - 5 34940 c.34737T>C c.(34735-34737)acT>acC p.T11579T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11581 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.T7212T(1)|p.T11579T(1) 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 CTGCAGGATGAGTGAGCCACG 0.522000 3 34 0 0 0.004672 0 0 CCNB1 891 broad.mit.edu 37 5 68467140 68467140 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr5:68467140C>A ENST00000256442.5 + 4 660 c.407C>A c.(406-408)gCc>gAc p.A136D NM_031966.3 NP_114172.1 P14635 CCNB1_HUMAN cyclin B1 136 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole p.A136V(1)|p.A136D(1) large_intestine(2)|lung(5)|skin(1) 8 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) TCTGGATGTGCCCCTGCAGAA 0.423000 7 88 8.12818e-05 9.33236e-05 0.029380 1 0 CDKN2D 1032 broad.mit.edu 37 19 10677830 10677830 + Missense_Mutation SNP C C G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:10677830C>G ENST00000393599.2 - 2 729 c.405G>C c.(403-405)agG>agC p.R135S CDKN2D_ENST00000335766.2_Missense_Mutation_p.R135S NM_001800.3|NM_079421.2 NP_001791.1|NP_524145.1 P55273 CDN2D_HUMAN cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) 135 anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding p.R135S(1) endometrium(3)|lung(2)|ovary(1) 6 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) CCCTGGCGTCCCTGCGATGGA 0.612000 8 78 0 0 0.004482 0 0 KRTAP24-1 643803 broad.mit.edu 37 21 31654799 31654799 + Missense_Mutation SNP C C G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr21:31654799C>G ENST00000340345.4 - 1 477 c.452G>C c.(451-453)tGc>tCc p.C151S NM_001085455.1 NP_001078924.1 Q3LI83 KR241_HUMAN keratin associated protein 24-1 151 keratin filament structural molecule activity p.C151S(1) breast(1)|large_intestine(3)|lung(7)|urinary_tract(3) 14 TTGTCCAAAGCAGTTGGAACC 0.458000 49 98 0 0 0.014410 0 0 SLC12A5 57468 broad.mit.edu 37 20 44682317 44682317 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr20:44682317G>A ENST00000454036.1 + 20 2793 c.2717G>A c.(2716-2718)cGc>cAc p.R906H SLC12A5_ENST00000243964.3_Missense_Mutation_p.R883H NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 906 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity p.R883H(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) TATCATTTACGCATCACTGCG 0.547000 7 83 0 0 0.038147 0 0 C12orf5 57103 broad.mit.edu 37 12 4459029 4459029 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr12:4459029G>T ENST00000179259.4 + 4 304 c.237G>T c.(235-237)atG>atT p.M79I C12orf5_ENST00000537251.1_3'UTR NM_020375.2 NP_065108.1 Q9NQ88 TIGAR_HUMAN chromosome 12 open reading frame 5 79 intracellular fructose-2,6-bisphosphate 2-phosphatase activity p.M79I(1) endometrium(1)|large_intestine(1)|lung(5)|skin(3) 10 all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206) GCAAAGATATGACGGTAAAGT 0.348000 11 87 4.36969e-10 5.88958e-10 0.016723 1 0 SOHLH1 402381 broad.mit.edu 37 9 138590880 138590880 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr9:138590880G>T ENST00000298466.5 - 2 218 c.158C>A c.(157-159)tCc>tAc p.S53Y SOHLH1_ENST00000425225.1_Missense_Mutation_p.S53Y NM_001012415.2 NP_001012415.2 Q5JUK2 SOLH1_HUMAN spermatogenesis and oogenesis specific basic helix-loop-helix 1 53 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding p.S53Y(2) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1) 12 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) CCGAAGGCAGGAGCTGGGACC 0.701000 14 31 4.3838e-07 5.35558e-07 0.016723 1 0 ARSF 416 broad.mit.edu 37 X 3007540 3007540 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:3007540C>A ENST00000381127.1 + 7 1055 c.834C>A c.(832-834)caC>caA p.H278Q ARSF_ENST00000537104.1_Missense_Mutation_p.H278Q|ARSF_ENST00000359361.2_Missense_Mutation_p.H278Q NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 278 extracellular region arylsulfatase activity|metal ion binding p.H278Q(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TTCTCAGGCACAGTAAGGAAA 0.428000 27 103 1.68575e-08 2.15499e-08 0.034045 1 0 GATAD2B 57459 broad.mit.edu 37 1 153790562 153790562 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:153790562C>A ENST00000368655.4 - 5 926 c.683G>T c.(682-684)cGg>cTg p.R228L NM_020699.2 NP_065750.1 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 228 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R228L(1) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGCCCCAGGCCGAGAGGGAAG 0.517000 42 170 3.61848e-18 5.57381e-18 0.030466 1 0 PRKD1 5587 broad.mit.edu 37 14 30100003 30100003 + Silent SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr14:30100003G>A ENST00000331968.5 - 10 1846 c.1617C>T c.(1615-1617)gcC>gcT p.A539A PRKD1_ENST00000415220.2_Silent_p.A547A NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 539 PH. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity p.A539A(2) NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) CGGGCATAAGGGCATGCTGGA 0.537000 7 109 0 0 0.029380 0 0 OR52H1 390067 broad.mit.edu 37 11 5565818 5565818 + Silent SNP T T A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:5565818T>A ENST00000322653.4 - 1 961 c.936A>T c.(934-936)atA>atT p.I312I HBG2_ENST00000380259.2_Intron NM_001005289.1 NP_001005289.1 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, member 1 312 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I312I(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAAACAAAAGTATAACCTTAT 0.388000 16 50 0 0 0.033300 0 0 RASAL2 9462 broad.mit.edu 37 1 178421741 178421741 + Missense_Mutation SNP C C G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:178421741C>G ENST00000448150.3 + 11 2727 c.1909C>G c.(1909-1911)Cta>Gta p.L637V RASAL2_ENST00000367649.3_Missense_Mutation_p.L655V|RASAL2_ENST00000462775.1_Missense_Mutation_p.L507V NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 507 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity p.L507V(1)|p.L655V(1)|p.L637V(1) biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 ATCTCGGACTCTAACTCTTAT 0.423000 7 178 0 0 0.004482 0 0 CPN1 1369 broad.mit.edu 37 10 101814132 101814132 + Silent SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr10:101814132G>T ENST00000370418.3 - 7 1334 c.1083C>A c.(1081-1083)gtC>gtA p.V361V NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 361 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding p.V361V(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) TAATCCCACTGACAGAAATGA 0.448000 15 73 1.15088e-07 1.43426e-07 0.028581 1 0 FBN2 2201 broad.mit.edu 37 5 127599195 127599195 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr5:127599195G>T ENST00000508053.1 - 69 9088 c.8114C>A c.(8113-8115)cCc>cAc p.P2705H FBN2_ENST00000262464.4_Missense_Mutation_p.P2705H P35556 FBN2_HUMAN fibrillin 2 2705 EGF-like 47; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.P2705H(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GTAATTGCAGGGGTTCTTGGA 0.612000 19 132 1.00905e-13 1.47202e-13 0.008871 1 0 TMEM105 284186 broad.mit.edu 37 17 79287682 79287682 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr17:79287682C>A ENST00000332900.1 - 3 708 c.159G>T c.(157-159)agG>agT p.R53S NM_178520.3 NP_848615.1 Q8N8V8 TM105_HUMAN transmembrane protein 105 53 integral to membrane p.R53S(1) NS(1)|large_intestine(3)|lung(1)|ovary(2) 7 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892) GGGGAGACGTCCTCGGGCCCT 0.607000 35 66 2.87052e-16 4.34079e-16 0.023175 1 0 MSMB 4477 broad.mit.edu 37 10 51562320 51562320 + Nonsense_Mutation SNP A A T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr10:51562320A>T ENST00000358559.2 + 4 352 c.265A>T c.(265-267)Aag>Tag p.K89* MSMB_ENST00000298239.6_Silent_p.S53S NM_002443.3 NP_002434.1 P08118 MSMB_HUMAN microseminoprotein, beta- 89 extracellular space|nucleus p.K89*(1) lung(4)|ovary(2)|prostate(1) 7 AAGAATCTTCAAGAAGGAGGA 0.448000 25 148 0 0 0.018920 0 0 KCTD14 65987 broad.mit.edu 37 11 77728273 77728273 + Missense_Mutation SNP G G C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:77728273G>C ENST00000353172.5 - 2 178 c.134C>G c.(133-135)aCc>aGc p.T45S KCTD14_ENST00000533144.1_Missense_Mutation_p.T15S|NDUFC2-KCTD14_ENST00000528251.1_3'UTR|NDUFC2-KCTD14_ENST00000530054.1_3'UTR NM_001203260.1|NM_001203262.1|NM_023930.3 NP_001190189.1|NP_001190191.1|NP_076419.2 Q9BQ13 KCD14_HUMAN potassium channel tetramerization domain containing 14 45 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity p.T45S(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 15 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) CAGGGTGGTGGTGTGGAACTC 0.582000 20 34 0 0 0.010504 0 0 AP3D1 8943 broad.mit.edu 37 19 2115341 2115341 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:2115341C>T ENST00000355272.6 - 20 2432 c.2226G>A c.(2224-2226)agG>agA p.R742R AP3D1_ENST00000350812.6_Silent_p.R573R|AP3D1_ENST00000345016.5_Silent_p.R742R|AP3D1_ENST00000356926.4_Silent_p.R651R NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 742 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity p.R742R(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) tctttttcctcctcttgtcct 0.642000 9 65 0 0 0.013537 0 0 ARID2 196528 broad.mit.edu 37 12 46243560 46243560 + Splice_Site SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr12:46243560G>T ENST00000334344.6 + 14 2084 c.e14+1 ARID2_ENST00000444670.1_Splice_Site|ARID2_ENST00000479608.1_Splice_Site|ARID2_ENST00000422737.1_Splice_Site NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.?(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TCACCTGCAGGTGTTAATTTT 0.313000 """N, S, F""" hepatocellular carcinoma 14 128 9.31168e-06 1.09967e-05 0.016723 1 0 PROS1 5627 broad.mit.edu 37 3 93593234 93593234 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:93593234G>A ENST00000394236.3 - 15 2202 c.1886C>T c.(1885-1887)gCc>gTc p.A629V PROS1_ENST00000407433.1_Missense_Mutation_p.A498V NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 629 Laminin G-like 2. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity p.A629V(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) CACTGGTGTGGCACTGAATGG 0.353000 5 49 0 0 0.014758 0 0 IKZF2 22807 broad.mit.edu 37 2 213872367 213872367 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr2:213872367C>A ENST00000457361.1 - 8 1466 c.1298G>T c.(1297-1299)aGc>aTc p.S433I IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374327.4_Missense_Mutation_p.S288I|IKZF2_ENST00000451136.2_Missense_Mutation_p.S361I|IKZF2_ENST00000374319.4_Missense_Mutation_p.S407I|IKZF2_ENST00000342002.2_Missense_Mutation_p.S439I|IKZF2_ENST00000421754.2_Missense_Mutation_p.S359I|IKZF2_ENST00000434687.1_Missense_Mutation_p.S433I NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 433 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S433I(1) NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) GTAAGCTGGGCTTTGTTTCCT 0.493000 25 273 3.28513e-13 4.76439e-13 0.021523 1 0 UGT2B7 7364 broad.mit.edu 37 4 69978338 69978338 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr4:69978338G>A ENST00000305231.7 + 6 1520 c.1474G>A c.(1474-1476)Gat>Aat p.D492N UGT2B7_ENST00000508661.1_3'UTR NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 492 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.D492N(1) autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CCACTCTTTGGATGTGATTGG 0.458000 17 138 0 0 0.033300 0 0 TRPV6 55503 broad.mit.edu 37 7 142583208 142583208 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:142583208C>T ENST00000359396.3 - 1 299 c.54G>A c.(52-54)aaG>aaA p.K18K RP11-114L10.2_ENST00000438839.1_RNA NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 18 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding p.K18K(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) ATCTGCAGAACTTGCTCCATA 0.612000 16 139 0 0 0.028581 0 0 TRPS1 7227 broad.mit.edu 37 8 116631634 116631634 + Nonsense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr8:116631634C>A ENST00000395715.3 - 3 1268 c.691G>T c.(691-693)Gag>Tag p.E231* TRPS1_ENST00000519674.1_Nonsense_Mutation_p.E218*|TRPS1_ENST00000519076.1_Nonsense_Mutation_p.E172*|TRPS1_ENST00000220888.5_Nonsense_Mutation_p.E218*|TRPS1_ENST00000520276.1_Nonsense_Mutation_p.E222* NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 218 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E218*(1)|p.E231*(1) autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TCCTGAAGCTCTGGAGACAGA 0.453000 Langer-Giedion syndrome 41 76 1.5731e-28 2.61832e-28 0.042209 1 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 4 42 0 0 0.009096 0 0 CHD5 26038 broad.mit.edu 37 1 6188908 6188908 + Silent SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:6188908G>A ENST00000262450.3 - 23 3708 c.3609C>T c.(3607-3609)gaC>gaT p.D1203D CHD5_ENST00000378021.1_Silent_p.D60D NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1203 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding p.D1203D(1) breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CCTCCACGTCGTCCTTGAAGA 0.672000 16 28 0 0 0.038395 0 0 EPHA7 2045 broad.mit.edu 37 6 94066483 94066483 + Silent SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:94066483G>T ENST00000369303.4 - 5 1460 c.1276C>A c.(1276-1278)Cga>Aga p.R426R NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 426 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity p.R426*(1)|p.R426R(1) NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CTCTGGGATCGGCTTAAGTCA 0.418000 27 29 3.80469e-20 5.97193e-20 0.041601 1 0 HSPH1 10808 broad.mit.edu 37 13 31719733 31719733 + Silent SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr13:31719733C>A ENST00000320027.5 - 11 1895 c.1551G>T c.(1549-1551)ctG>ctT p.L517L HSPH1_ENST00000429785.2_Silent_p.L336L|HSPH1_ENST00000380406.5_Silent_p.L476L|HSPH1_ENST00000445273.2_Silent_p.L519L|HSPH1_ENST00000380405.4_Silent_p.L517L NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 517 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding p.L517L(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) GTCTCTGATTCAGACACTCCA 0.423000 6 42 0.00116845 0.00128789 0.021553 1 0 KLHL24 54800 broad.mit.edu 37 3 183397003 183397003 + Missense_Mutation SNP A A G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:183397003A>G ENST00000454652.1 + 9 2118 c.1732A>G c.(1732-1734)Atg>Gtg p.M578V KLHL24_ENST00000242810.6_Missense_Mutation_p.M578V Q6TFL4 KLH24_HUMAN kelch-like family member 24 578 axon|cytoplasm|perikaryon p.M578V(1) NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) GGTAGCTGCAATGCCCAGGCC 0.443000 28 62 0 0 0.037714 0 0 AP3D1 8943 broad.mit.edu 37 19 2114283 2114283 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:2114283C>T ENST00000355272.6 - 22 2648 c.2442G>A c.(2440-2442)gaG>gaA p.E814E AP3D1_ENST00000350812.6_Silent_p.E645E|AP3D1_ENST00000345016.5_Silent_p.E814E|AP3D1_ENST00000356926.4_Silent_p.E723E NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 814 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity p.E814E(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TAGGCAGTTTCTCGCTGTCGG 0.537000 12 41 0 0 0.020292 0 0 CSMD1 64478 broad.mit.edu 37 8 2823383 2823383 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr8:2823383G>T ENST00000520002.1 - 60 9752 c.9197C>A c.(9196-9198)cCa>cAa p.P3066Q CSMD1_ENST00000537824.1_Missense_Mutation_p.P3065Q|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.P3066Q Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3066 Sushi 24. integral to membrane p.P2794Q(1)|p.P3065Q(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GACATAGCCTGGGTTACACTG 0.483000 9 4 4.68919e-08 5.90314e-08 0.008291 1 0 OR2M3 127062 broad.mit.edu 37 1 248366562 248366562 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:248366562C>A ENST00000456743.1 + 1 231 c.193C>A c.(193-195)Caa>Aaa p.Q65K NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q65K(1) endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CCTCCTCAGCCAACTGTCCCT 0.547000 75 331 9.35569e-46 1.64554e-45 0.014410 1 0 GATM 2628 broad.mit.edu 37 15 45661562 45661562 + Missense_Mutation SNP C C A rs80338737 TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr15:45661562C>A ENST00000396659.3 - 3 785 c.446G>T c.(445-447)tGg>tTg p.W149L GATM_ENST00000558336.1_Missense_Mutation_p.W149L NM_001482.2 NP_001473.1 P50440 GATM_HUMAN glycine amidinotransferase (L-arginine:glycine amidinotransferase) 149 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding p.W149L(1) biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 15 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) CTTCAATGACCAGTCAATGGG 0.373000 24 96 7.41945e-09 9.63363e-09 0.027356 1 0 MYH2 4620 broad.mit.edu 37 17 10429087 10429087 + Missense_Mutation SNP C C G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr17:10429087C>G ENST00000245503.5 - 31 4678 c.4294G>C c.(4294-4296)Gag>Cag p.E1432Q MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1432Q|CTC-297N7.7_ENST00000581304.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1432 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.E1432Q(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 ATGAGGTCCTCGACCTCATTC 0.542000 43 56 0 0 0.042209 0 0 POU3F4 5456 broad.mit.edu 37 X 82763714 82763714 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:82763714G>T ENST00000373200.2 + 1 446 c.382G>T c.(382-384)Ggc>Tgc p.G128C RP3-326L13.2_ENST00000607095.1_RNA NM_000307.3 NP_000298.2 P49335 PO3F4_HUMAN POU class 3 homeobox 4 128 sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity p.G128C(1) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 37 CACGTCAAGCGGCCAACCCCT 0.667000 10 10 9.70103e-10 1.29347e-09 0.008291 1 0 C10orf68 79741 broad.mit.edu 37 10 33137562 33137562 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr10:33137562C>T ENST00000375030.2 + 20 2035 c.1417C>T c.(1417-1419)Cgt>Tgt p.R473C C10orf68_ENST00000375025.4_Missense_Mutation_p.R578C|C10orf68_ENST00000375028.3_Missense_Mutation_p.R518C Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 514 p.R514C(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 GTCCGTACAACGTCAAGAAGG 0.294000 10 80 0 0 0.010729 0 0 ZNF217 7764 broad.mit.edu 37 20 52193560 52193560 + Silent SNP A A G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr20:52193560A>G ENST00000371471.2 - 4 2168 c.1743T>C c.(1741-1743)tcT>tcC p.S581S ZNF217_ENST00000302342.3_Silent_p.S581S O75362 ZN217_HUMAN zinc finger protein 217 581 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.S581S(2) NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) TCTGAAAAACAGAAGGCATCT 0.443000 41 76 0 0 0.025465 0 0 TBX5 6910 broad.mit.edu 37 12 114837318 114837318 + Splice_Site SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr12:114837318C>T ENST00000310346.4 - 4 1028 c.362_splice c.e4+1 p.W121_splice TBX5_ENST00000349716.5_Splice_Site_p.W71_splice|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Splice_Site_p.W121_splice|TBX5_ENST00000526441.1_Splice_Site_p.W121_splice NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 121 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding p.W121*(2) endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) CAGTGCCTACCATTTATTATC 0.423000 21 123 0 0 0.018920 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46012274 46012274 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr21:46012274G>T ENST00000400368.1 - 1 112 c.92C>A c.(91-93)tCc>tAc p.S31Y TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 31 keratin filament p.S31Y(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 CACCTGCCAGGAGTCGGAGCA 0.682000 5 27 8.12818e-05 9.33236e-05 0.029380 1 0 CR1 1378 broad.mit.edu 37 1 207741262 207741262 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:207741262C>A ENST00000367049.4 + 25 4046 c.4046C>A c.(4045-4047)aCa>aAa p.T1349K CR1_ENST00000367051.1_Missense_Mutation_p.T899K|CR1_ENST00000367053.1_Missense_Mutation_p.T899K|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.T899K|CR1_ENST00000367052.1_Intron NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 899 Sushi 21. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.T904K(1)|p.T1349K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GTAAATTACACATGCGACCCC 0.498000 73 159 2.40041e-21 3.89086e-21 0.014410 1 0 PLP2 5355 broad.mit.edu 37 X 49029519 49029519 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:49029519C>A ENST00000376327.5 + 2 215 c.140C>A c.(139-141)cCa>cAa p.P47Q PLP2_ENST00000376322.3_Missense_Mutation_p.P47Q NM_002668.2 NP_002659.1 Q04941 PLP2_HUMAN proteolipid protein 2 (colonic epithelium-enriched) 47 MARVEL. chemotaxis|cytokine-mediated signaling pathway endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane chemokine binding|ion transmembrane transporter activity p.P47Q(1) endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3) 13 GCCTCCACACCAGGCTACTCC 0.493000 9 33 2.17888e-05 2.53691e-05 0.006214 1 0 RSPH6A 81492 broad.mit.edu 37 19 46307742 46307742 + Missense_Mutation SNP G G A rs76423334 byFrequency TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:46307742G>A ENST00000221538.3 - 3 1563 c.1421C>T c.(1420-1422)cCg>cTg p.P474L RSPH6A_ENST00000597055.1_Missense_Mutation_p.P474L|RSPH6A_ENST00000600188.1_Missense_Mutation_p.P210L NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 474 intracellular p.P474L(1) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 CTCGTTGCCCGGGAAGGGTGG 0.632000 4 53 0 0 0.014758 0 0 SLC44A5 204962 broad.mit.edu 37 1 75805301 75805301 + Missense_Mutation SNP A A T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:75805301A>T ENST00000370855.5 - 4 180 c.67T>A c.(67-69)Tat>Aat p.Y23N SLC44A5_ENST00000370859.3_Missense_Mutation_p.Y23N|SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000535611.1_5'UTR NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 23 integral to membrane|plasma membrane choline transmembrane transporter activity p.Y23N(1) kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 TCTGGGTCATATGTCCTTGGA 0.343000 165 306 0 0 0.014410 0 0 ALG10B 144245 broad.mit.edu 37 12 38714267 38714267 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr12:38714267G>T ENST00000308742.4 + 3 990 c.674G>T c.(673-675)gGa>gTa p.G225V ALG10B_ENST00000551464.1_Intron NM_001013620.3 NP_001013642.1 Q5I7T1 AG10B_HUMAN ALG10B, alpha-1,2-glucosyltransferase 225 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity p.G225V(1) breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1) 25 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) CCTATTAAAGGACCATTTGCA 0.393000 21 111 3.65163e-15 5.48851e-15 0.030593 1 0 BAI2 576 broad.mit.edu 37 1 32198202 32198202 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:32198202C>T ENST00000373658.3 - 27 3977 c.3636G>A c.(3634-3636)gtG>gtA p.V1212V BAI2_ENST00000398542.1_Silent_p.V1112V|BAI2_ENST00000398547.1_Silent_p.V1145V|BAI2_ENST00000257070.4_Silent_p.V1179V|BAI2_ENST00000527361.1_Silent_p.V1179V|BAI2_ENST00000440175.2_Silent_p.V821V|BAI2_ENST00000398556.3_Silent_p.V1127V|BAI2_ENST00000373655.2_Silent_p.V1212V|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398538.1_Silent_p.V1200V NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 1212 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.V1212V(1) breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) GGCACTTCACCACATCCTGGA 0.652000 5 29 0 0 0.014758 0 0 RSRC1 51319 broad.mit.edu 37 3 158261251 158261251 + Missense_Mutation SNP A A G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:158261251A>G ENST00000464171.1 + 8 838 c.713A>G c.(712-714)gAt>gGt p.D238G RSRC1_ENST00000312179.6_Missense_Mutation_p.D238G|RSRC1_ENST00000475278.2_Intron|RSRC1_ENST00000295930.3_Missense_Mutation_p.D296G|RSRC1_ENST00000480820.1_Missense_Mutation_p.D296G NM_001271834.1 NP_001258763.1 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 296 nucleocytoplasmic transport cytoplasm|nuclear speck protein binding p.D296G(1) cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) AAGTACCAAGATGACAATTCC 0.388000 28 117 0 0 0.045705 0 0 USH2A 7399 broad.mit.edu 37 1 216108066 216108066 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:216108066G>A ENST00000366943.2 - 38 7578 c.7192C>T c.(7192-7194)Ctc>Ttc p.L2398F USH2A_ENST00000307340.3_Missense_Mutation_p.L2398F O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2398 Fibronectin type-III 10. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.L2398F(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CCATCGATGAGCACCCAAAGG 0.363000 HNSCC(13;0.011) 73 92 0 0 0.014410 0 0 TTC6 319089 broad.mit.edu 37 14 38266098 38266098 + Silent SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr14:38266098G>A ENST00000553443.1 + 20 3975 c.3975G>A c.(3973-3975)gaG>gaA p.E1325E TTC6_ENST00000476979.1_Silent_p.E56E|TTC6_ENST00000267368.7_Silent_p.E56E|TTC6_ENST00000554555.1_3'UTR|TTC6_ENST00000382320.3_Silent_p.E39E tetratricopeptide repeat domain 6 p.E56E(1)|p.E1325E(1) central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 14 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176) GBM - Glioblastoma multiforme(112;0.00551) ATAGAGCTGAGATGACCATGT 0.408000 10 127 0 0 0.008291 0 0 IKZF1 10320 broad.mit.edu 37 7 50468246 50468246 + Missense_Mutation SNP T T A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:50468246T>A ENST00000331340.3 + 8 1636 c.1481T>A c.(1480-1482)aTg>aAg p.M494K IKZF1_ENST00000357364.4_Missense_Mutation_p.M407K|IKZF1_ENST00000343574.5_Missense_Mutation_p.M407K|IKZF1_ENST00000359197.5_Missense_Mutation_p.M452K|IKZF1_ENST00000439701.1_Missense_Mutation_p.M452K|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000346667.4_Missense_Mutation_p.M264K|IKZF1_ENST00000349824.4_Missense_Mutation_p.M351K|IKZF1_ENST00000438033.1_Missense_Mutation_p.M407K NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 494 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(28)|p.M494K(1) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GAGTGCAACATGTGCGGCTAC 0.602000 """D,T""" BCL6 """ALL, DLBCL""" 3 30 0 0 0.004672 0 0 CLPSL1 340204 broad.mit.edu 37 6 35755685 35755685 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:35755685C>A ENST00000373861.5 + 3 358 c.264C>A c.(262-264)aaC>aaA p.N88K CLPSL1_ENST00000542261.1_Missense_Mutation_p.N87K A2RUU4 CF127_HUMAN colipase-like 1 88 digestion|lipid catabolic process extracellular region enzyme activator activity p.N88K(1) GCCTGCGGAACCTGACTTGTA 0.483000 33 58 4.31634e-10 5.84946e-10 0.012213 1 0 ITGA8 8516 broad.mit.edu 37 10 15646211 15646211 + Missense_Mutation SNP T T C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr10:15646211T>C ENST00000378076.3 - 20 2467 c.2114A>G c.(2113-2115)aAc>aGc p.N705S ITGA8_ENST00000477064.1_5'UTR NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 705 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity p.N705S(1) NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 CATTACCTTGTTGTTGCGTTC 0.378000 24 111 0 0 0.018920 0 0 MAGEH1 28986 broad.mit.edu 37 X 55479393 55479393 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:55479393G>A ENST00000342972.1 + 1 856 c.586G>A c.(586-588)Gac>Aac p.D196N NM_014061.3 NP_054780.2 Q9H213 MAGH1_HUMAN melanoma antigen family H, 1 196 MAGE. apoptosis p.D196N(1) central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2) 15 TTGTAATTATGACTGGGATTC 0.522000 11 77 0 0 0.010729 0 0 SFMBT2 57713 broad.mit.edu 37 10 7423846 7423846 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr10:7423846C>A ENST00000361972.4 - 2 105 c.15G>T c.(13-15)ttG>ttT p.L5F SFMBT2_ENST00000397160.3_Missense_Mutation_p.L5F|SFMBT2_ENST00000379711.2_Missense_Mutation_p.L5F|SFMBT2_ENST00000397167.1_Missense_Mutation_p.L5F|SFMBT2_ENST00000379713.3_Missense_Mutation_p.L5F NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 5 regulation of transcription, DNA-dependent nucleus p.L5F(1) NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 TGGAAGCTGACAAAGTGCTCT 0.398000 12 45 0.000151284 0.000172897 0.016723 1 0 FXYD7 53822 broad.mit.edu 37 19 35642229 35642229 + Missense_Mutation SNP T T G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:35642229T>G ENST00000270310.2 + 3 218 c.134T>G c.(133-135)aTc>aGc p.I45S CTD-2527I21.4_ENST00000592174.1_RNA|FXYD7_ENST00000588265.1_Missense_Mutation_p.I45S|FXYD7_ENST00000586063.1_Missense_Mutation_p.I45S NM_022006.1 NP_071289.1 P58549 FXYD7_HUMAN FXYD domain containing ion transport regulator 7 45 integral to membrane ion channel activity p.I45S(1)|p.I45T(1) NS(1)|endometrium(1)|lung(1) 3 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849) CTCATCGTCATCAGTAAGTGC 0.542000 10 105 0 0 0.013537 0 0 MUC17 140453 broad.mit.edu 37 7 100682069 100682069 + Missense_Mutation SNP T T A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:100682069T>A ENST00000306151.4 + 3 7436 c.7372T>A c.(7372-7374)Tta>Ata p.L2458I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2458 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.L2458I(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AACCACTCCGTTAGCAAGTAT 0.532000 32 207 0 0 0.041601 0 0 MTM1 4534 broad.mit.edu 37 X 149828153 149828153 + Missense_Mutation SNP A A T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:149828153A>T ENST00000370396.2 + 12 1331 c.1277A>T c.(1276-1278)gAt>gTt p.D426V MTM1_ENST00000413012.2_Missense_Mutation_p.D389V|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.D311V|MTM1_ENST00000542741.1_Missense_Mutation_p.D331V NM_000252.2 NP_000243.1 Q13496 MTM1_HUMAN myotubularin 1 426 Myotubularin phosphatase. endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity p.D426V(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) GGTCATGGTGATAAAAACCAC 0.333000 6 69 0 0 0.029380 0 0 ELK4 2005 broad.mit.edu 37 1 205588203 205588203 + Splice_Site SNP T T A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:205588203T>A ENST00000357992.4 - 4 1420 c.e4-2 NM_001973.3 NP_001964.2 ELK4, ETS-domain protein (SRF accessory protein 1) p.?(1) SLC45A3/ELK4(18) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 12 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) GATGGGTGTCTGCAATACACA 0.453000 T SLC45A3 prostate 36 43 0 0 0.019004 0 0 CCDC147 159686 broad.mit.edu 37 10 106125670 106125670 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr10:106125670G>T ENST00000369704.3 + 5 830 c.696G>T c.(694-696)atG>atT p.M232I CCDC147_ENST00000312902.5_5'UTR NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 232 p.M232I(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) AGGCAGACATGGACAGCAGGC 0.502000 7 28 8.12818e-05 9.33236e-05 0.029380 1 0 NEURL4 84461 broad.mit.edu 37 17 7221815 7221815 + Splice_Site SNP T T C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr17:7221815T>C ENST00000399464.2 - 23 3878 c.3864_splice c.e23+1 p.Q1288_splice NEURL4_ENST00000315614.7_Splice_Site_p.Q1286_splice|RP11-542C16.2_ENST00000575474.1_Splice_Site_p.R102_splice|NEURL4_ENST00000574120.1_5'UTR|NEURL4_ENST00000570460.1_Splice_Site_p.Q1264_splice NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 p.Q1288R(1)|p.Q1286R(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GCCACTAACCTGCTCACACTG 0.627000 3 12 0 0 0.004672 0 0 LAYN 143903 broad.mit.edu 37 11 111425981 111425981 + Missense_Mutation SNP A A C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:111425981A>C ENST00000436913.2 + 4 590 c.189A>C c.(187-189)gaA>gaC p.E63D LAYN_ENST00000375615.3_Missense_Mutation_p.E216D|LAYN_ENST00000525126.1_Missense_Mutation_p.E216D|LAYN_ENST00000533265.1_Missense_Mutation_p.E208D|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000375614.2_Missense_Mutation_p.E208D NM_001258391.1 NP_001245320.1 Q6UX15 LAYN_HUMAN layilin 216 C-type lectin. cell surface|integral to membrane|ruffle hyaluronic acid binding|sugar binding p.E208D(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1) 14 all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086) Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476) AAACACAGGAAGAAGATGCCA 0.403000 6 58 0 0 0.038147 0 0 MRPS7 51081 broad.mit.edu 37 17 73261910 73261910 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr17:73261910C>T ENST00000579002.1 + 4 1137 c.722C>T c.(721-723)gCt>gTt p.A241V MRPS7_ENST00000245539.6_Missense_Mutation_p.A212V Q9Y2R9 RT07_HUMAN mitochondrial ribosomal protein S7 212 translation cytosolic small ribosomal subunit|mitochondrion protein binding|RNA binding|structural constituent of ribosome p.A212V(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2) 6 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) CTGCTGGAGGCTTTCCATAAC 0.577000 17 56 0 0 0.010504 0 0 GRM5 2915 broad.mit.edu 37 11 88780748 88780748 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:88780748G>T ENST00000418177.2 - 2 660 c.293C>A c.(292-294)tCc>tAc p.S98Y GRM5_ENST00000393297.1_Missense_Mutation_p.S98Y|GRM5_ENST00000455756.2_Missense_Mutation_p.S98Y|GRM5_ENST00000305447.4_Missense_Mutation_p.S98Y|GRM5_ENST00000305432.5_Missense_Mutation_p.S98Y|GRM5_ENST00000393294.3_Missense_Mutation_p.S98Y P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 98 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.S98Y(2) NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) ATGCCAGCAGGAGTCCCTTAT 0.517000 18 20 1.33834e-09 1.76547e-09 0.043863 1 0 UTP14A 10813 broad.mit.edu 37 X 129063425 129063425 + Silent SNP C C G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:129063425C>G ENST00000394422.3 + 15 2185 c.2157C>G c.(2155-2157)ccC>ccG p.P719P UTP14A_ENST00000371042.3_Silent_p.P551P|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Silent_p.P665P|UTP14A_ENST00000425117.2_Silent_p.P667P NM_006649.3 NP_006640.2 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) 719 rRNA processing nucleolus|small-subunit processome protein binding p.P719P(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1) 32 TGACTACTCCCAAGGTCGTCA 0.507000 17 78 0 0 0.033300 0 0 DHX8 1659 broad.mit.edu 37 17 41594634 41594634 + Missense_Mutation SNP A A G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr17:41594634A>G ENST00000262415.3 + 18 2815 c.2743A>G c.(2743-2745)Acc>Gcc p.T915A DHX8_ENST00000540306.1_Missense_Mutation_p.T915A NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 915 Helicase C-terminal. catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding p.T915A(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) AATGCTGACCACCAACGTGCC 0.512000 3 32 0 0 0.004672 0 0 AP3D1 8943 broad.mit.edu 37 19 2115379 2115379 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:2115379C>T ENST00000355272.6 - 20 2394 c.2188G>A c.(2188-2190)Gag>Aag p.E730K AP3D1_ENST00000350812.6_Missense_Mutation_p.E561K|AP3D1_ENST00000345016.5_Missense_Mutation_p.E730K|AP3D1_ENST00000356926.4_Missense_Mutation_p.E639K NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 730 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity p.E730K(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGCCGCCGCTCCTCCTCCAGC 0.657000 17 80 0 0 0.014323 0 0 PCDHB6 56130 broad.mit.edu 37 5 140529991 140529991 + Silent SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr5:140529991G>A ENST00000231136.1 + 1 153 c.153G>A c.(151-153)ctG>ctA p.L51L PCDHB6_ENST00000543635.1_Intron NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 51 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.L51L(1) cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAAAGGACCTGGGACTGAGGG 0.512000 32 120 0 0 0.037714 0 0 KIAA1210 57481 broad.mit.edu 37 X 118284535 118284535 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:118284535G>A ENST00000402510.2 - 1 7 c.8C>T c.(7-9)gCc>gTc p.A3V NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 3 p.A3V(1) breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 CGTCCAGCCGGCCCTCATTTC 0.662000 24 46 0 0 0.018920 0 0 NCBP2 22916 broad.mit.edu 37 3 196664485 196664485 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:196664485G>A ENST00000447325.1 - 3 434 c.85C>T c.(85-87)Cgg>Tgg p.R29W NCBP2_ENST00000422610.1_Missense_Mutation_p.R29W|NCBP2_ENST00000452404.2_Missense_Mutation_p.R81W|NCBP2_ENST00000321256.5_Missense_Mutation_p.R99W|NCBP2_ENST00000427641.2_Missense_Mutation_p.R46W|NCBP2_ENST00000467803.1_5'UTR P52298 NCBP2_HUMAN nuclear cap binding protein subunit 2, 20kDa 99 gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm nucleotide binding|protein binding|RNA 7-methylguanosine cap binding p.R99W(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00551) TTTATGTACCGCATGGCGTTT 0.488000 4 94 0 0 0.014758 0 0 AP3D1 8943 broad.mit.edu 37 19 2115386 2115386 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:2115386C>T ENST00000355272.6 - 20 2387 c.2181G>A c.(2179-2181)ctG>ctA p.L727L AP3D1_ENST00000350812.6_Silent_p.L558L|AP3D1_ENST00000345016.5_Silent_p.L727L|AP3D1_ENST00000356926.4_Silent_p.L636L NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 727 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity p.L727L(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTCCTCCTCCAGCTTCACAT 0.657000 18 76 0 0 0.016522 0 0 TRPC4 7223 broad.mit.edu 37 13 38237641 38237641 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr13:38237641G>T ENST00000379705.3 - 6 2457 c.1600C>A c.(1600-1602)Cta>Ata p.L534I TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000379673.2_Missense_Mutation_p.L534I|TRPC4_ENST00000355779.2_Missense_Mutation_p.L534I|TRPC4_ENST00000379681.3_Missense_Mutation_p.L534I|TRPC4_ENST00000379679.1_Missense_Mutation_p.L361I|TRPC4_ENST00000338947.5_Missense_Mutation_p.L361I|TRPC4_ENST00000447043.1_Missense_Mutation_p.L534I|TRPC4_ENST00000358477.2_Missense_Mutation_p.L534I Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 534 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity p.L534I(2) NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) AATTGATTTAGGCCATTTGCA 0.373000 4 73 0.00024832 0.000282492 0.009096 1 0 PLEC 5339 broad.mit.edu 37 8 144991017 144991017 + Silent SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr8:144991017G>A ENST00000322810.4 - 32 13552 c.13383C>T c.(13381-13383)ccC>ccT p.P4461P PLEC_ENST00000354589.3_Silent_p.P4324P|PLEC_ENST00000345136.3_Silent_p.P4324P|PLEC_ENST00000356346.3_Silent_p.P4310P|PLEC_ENST00000357649.2_Silent_p.P4328P|PLEC_ENST00000527096.1_Silent_p.P4347P|PLEC_ENST00000436759.2_Silent_p.P4351P|PLEC_ENST00000398774.2_Silent_p.P4292P|PLEC_ENST00000354958.2_Silent_p.P4302P NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4461 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle p.P4324P(1)|p.P4461P(1)|p.P4351P(1) NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CACCGGTGCTGGGGTCGATGA 0.652000 8 58 0 0 0.038147 0 0 C12orf5 57103 broad.mit.edu 37 12 4459026 4459026 + Missense_Mutation SNP T T G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr12:4459026T>G ENST00000179259.4 + 4 301 c.234T>G c.(232-234)gaT>gaG p.D78E C12orf5_ENST00000537251.1_3'UTR NM_020375.2 NP_065108.1 Q9NQ88 TIGAR_HUMAN chromosome 12 open reading frame 5 78 intracellular fructose-2,6-bisphosphate 2-phosphatase activity p.D78E(1) endometrium(1)|large_intestine(1)|lung(5)|skin(3) 10 all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206) TTTGCAAAGATATGACGGTAA 0.353000 12 89 0 0 0.020292 0 0 SYNE1 23345 broad.mit.edu 37 6 152804280 152804280 + Silent SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:152804280G>T ENST00000367255.5 - 14 1891 c.1290C>A c.(1288-1290)acC>acA p.T430T SYNE1_ENST00000367248.3_Silent_p.T420T|SYNE1_ENST00000423061.1_Silent_p.T437T|SYNE1_ENST00000448038.1_Silent_p.T437T|SYNE1_ENST00000413186.2_Silent_p.T430T|SYNE1_ENST00000341594.5_Silent_p.T430T|SYNE1_ENST00000367253.4_Silent_p.T430T|SYNE1_ENST00000265368.4_Silent_p.T430T|SYNE1_ENST00000466159.2_Silent_p.T430T NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 430 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.T430T(2)|p.T437T(1) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCTGTTGAACGGTTATTTCCT 0.483000 HNSCC(10;0.0054) 78 97 1.1397e-45 1.97655e-45 0.014410 1 0 BZRAP1 9256 broad.mit.edu 37 17 56389902 56389902 + Silent SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr17:56389902C>A ENST00000355701.3 - 17 3150 c.2280G>T c.(2278-2280)gtG>gtT p.V760V BZRAP1_ENST00000268893.6_Silent_p.V700V|BZRAP1_ENST00000343736.4_Silent_p.V760V NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 760 mitochondrion benzodiazepine receptor binding p.V760V(2) cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGCTCCTTCCCACACTGCTTT 0.647000 21 54 5.35356e-11 7.50103e-11 0.016522 1 0 LAMB4 22798 broad.mit.edu 37 7 107708591 107708591 + Missense_Mutation SNP G G C rs140790836 byFrequency TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:107708591G>C ENST00000388781.3 - 19 2399 c.2316C>G c.(2314-2316)caC>caG p.H772Q LAMB4_ENST00000388780.3_Missense_Mutation_p.H772Q|LAMB4_ENST00000205386.4_Missense_Mutation_p.H772Q NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 772 Laminin EGF-like 6. cell adhesion basement membrane p.H772Q(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 AGCCCTGGGGGTGACACTTGC 0.547000 24 29 0 0 0.018920 0 0 BANK1 55024 broad.mit.edu 37 4 102839313 102839313 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr4:102839313C>T ENST00000504592.1 + 11 1546 c.1128C>T c.(1126-1128)caC>caT p.H376H BANK1_ENST00000428908.1_Silent_p.H258H|BANK1_ENST00000508653.1_Silent_p.H258H|BANK1_ENST00000444316.2_Silent_p.H361H|BANK1_ENST00000322953.4_Silent_p.H391H Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 391 B cell activation p.H391H(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) GGCATGGTCACAAAGAACTCA 0.358000 7 74 0 0 0.029380 0 0 VPS13C 54832 broad.mit.edu 37 15 62226466 62226466 + Missense_Mutation SNP A A C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr15:62226466A>C ENST00000261517.5 - 49 5893 c.5820T>G c.(5818-5820)ttT>ttG p.F1940L VPS13C_ENST00000395898.3_Missense_Mutation_p.F1897L|VPS13C_ENST00000395896.4_Missense_Mutation_p.F1940L|VPS13C_ENST00000249837.3_Missense_Mutation_p.F1897L NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1940 protein localization p.F1940L(2) NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 ATTCAAAGTGAAAGTCAAATT 0.318000 16 160 0 0 0.038395 0 0 AKR1B15 441282 broad.mit.edu 37 7 134254279 134254279 + Missense_Mutation SNP A A G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:134254279A>G ENST00000457545.2 + 5 693 c.433A>G c.(433-435)Aag>Gag p.K145E AKR1B15_ENST00000423958.1_Missense_Mutation_p.K117E NM_001080538.2 NP_001074007.2 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 145 oxidoreductase activity p.K145E(1)|p.K117E(1)|p.K123E(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1) 18 ACAGGGATTCAAGGTTTGAGT 0.507000 20 57 0 0 0.012319 0 0 TENM3 55714 broad.mit.edu 37 4 183675836 183675836 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr4:183675836C>T ENST00000511685.1 + 22 4439 c.4316C>T c.(4315-4317)tCc>tTc p.S1439F TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.S1439F teneurin transmembrane protein 3 p.S1439F(1) GGAGAAATCTCCTTAGTGGCC 0.468000 8 34 0 0 0.038147 0 0 RNF19B 127544 broad.mit.edu 37 1 33402700 33402700 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:33402700G>T ENST00000373456.7 - 9 1905 c.1906C>A c.(1906-1908)Ccc>Acc p.P636T RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Missense_Mutation_p.P635T NM_153341.2 NP_699172.2 Q6ZMZ0 RN19B_HUMAN ring finger protein 19B 636 integral to membrane ligase activity|protein binding|zinc ion binding p.P445T(1) endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TGTCTGCAGGGGGGATCCTCT 0.567000 17 145 4.35082e-09 5.67896e-09 0.010504 1 0 KRT75 9119 broad.mit.edu 37 12 52825359 52825359 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr12:52825359C>T ENST00000252245.5 - 4 1058 c.838G>A c.(838-840)Gag>Aag p.E280K NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 280 Coil 1B.|Rod. keratin filament structural molecule activity p.E280K(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) AAGTTGATCTCCTCGGGCAGA 0.483000 4 55 0 0 0.021553 0 0 COL7A1 1294 broad.mit.edu 37 3 48630019 48630019 + Missense_Mutation SNP G G T rs141801873 TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:48630019G>T ENST00000328333.8 - 7 1067 c.960C>A c.(958-960)agC>agA p.S320R COL7A1_ENST00000454817.1_Missense_Mutation_p.S320R NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 320 Fibronectin type-III 1.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity p.S320R(1) NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GAGCTGTCCCGCTCACAGCCT 0.617000 9 30 0.000274275 0.000310595 0.004482 1 0 KALRN 8997 broad.mit.edu 37 3 124377365 124377365 + Splice_Site SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:124377365G>A ENST00000360013.3 + 42 6247 c.e42+1 KALRN_ENST00000393496.1_Splice_Site|KALRN_ENST00000459915.1_Splice_Site|KALRN_ENST00000428018.2_Splice_Site|KALRN_ENST00000291478.4_Splice_Site NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity p.?(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CTACTTTGAGGTAAGCTGTGC 0.507000 12 50 0 0 0.010729 0 0 EBF1 1879 broad.mit.edu 37 5 158223455 158223455 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr5:158223455C>T ENST00000313708.6 - 9 1089 c.807G>A c.(805-807)ccG>ccA p.P269P EBF1_ENST00000517373.1_Silent_p.P261P|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.P238P NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 269 IPT/TIG. multicellular organismal development nucleus DNA binding|metal ion binding p.P269P(1) HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATCCTTCACTCGGGCTGATGG 0.463000 T HMGA2 lipoma 4 66 0 0 0.009096 0 0 C2orf80 389073 broad.mit.edu 37 2 209049756 209049756 + Splice_Site SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr2:209049756C>A ENST00000341287.4 - 3 237 c.41_splice c.e3-1 p.L14_splice C2orf80_ENST00000453017.1_Splice_Site_p.L14_splice|C2orf80_ENST00000451346.1_Intron NM_001099334.2 NP_001092804.1 Q0P641 CB080_HUMAN chromosome 2 open reading frame 80 14 p.?(1) endometrium(2)|large_intestine(3)|lung(6)|skin(2) 13 TATAATCTCCCCTTAAAAGCA 0.448000 9 61 0.000442599 0.000496673 0.006214 1 0 OPRK1 4986 broad.mit.edu 37 8 54142117 54142117 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr8:54142117G>T ENST00000265572.3 - 4 1180 c.883C>A c.(883-885)Ctg>Atg p.L295M RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.L206M|OPRK1_ENST00000520287.1_Missense_Mutation_p.L295M NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 295 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding p.L295M(1) NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) GCCTCCACCAGGATGAATATG 0.552000 12 11 0.010729 0.011227 0.010729 1 0 CASP8AP2 9994 broad.mit.edu 37 6 90556331 90556331 + RNA SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:90556331G>T ENST00000551025.1 + 0 1460 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity p.G8V(1) NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) GATGACAATGGTGATGGAACA 0.338000 7 10 1.76689e-08 2.24713e-08 0.006214 1 0 SLITRK2 84631 broad.mit.edu 37 X 144905670 144905670 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:144905670C>T ENST00000370490.1 + 1 5982 c.1727C>T c.(1726-1728)gCt>gTt p.A576V SLITRK2_ENST00000434188.2_Missense_Mutation_p.A576V|SLITRK2_ENST00000413937.2_Missense_Mutation_p.A576V|SLITRK2_ENST00000447897.2_Missense_Mutation_p.A576V|SLITRK2_ENST00000428560.2_Missense_Mutation_p.A576V Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 576 LRRCT 2. integral to membrane p.A576V(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) GGGAGGGAGGCTATCTGTCCA 0.473000 30 50 0 0 0.041601 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994659 140994659 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:140994659C>A ENST00000285879.4 + 4 1755 c.1469C>A c.(1468-1470)aCt>aAt p.T490N MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 490 protein binding p.T490N(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCCTCCACTTTATTGAGT 0.498000 HNSCC(15;0.026) 52 243 8.28887e-21 1.30932e-20 0.014410 1 0 MDGA1 266727 broad.mit.edu 37 6 37626189 37626189 + Missense_Mutation SNP A A G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:37626189A>G ENST00000434837.2 - 3 1392 c.214T>C c.(214-216)Tgg>Cgg p.W72R MDGA1_ENST00000297153.7_Missense_Mutation_p.W72R|MDGA1_ENST00000505425.1_Missense_Mutation_p.W72R NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 72 Ig-like 1. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane p.W72R(1) central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 GTCTTGGTCCACCGTACCTGG 0.667000 11 56 0 0 0.024245 0 0 ST6GALNAC3 256435 broad.mit.edu 37 1 77093235 77093235 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:77093235C>T ENST00000328299.3 + 4 870 c.722C>T c.(721-723)aCc>aTc p.T241I NM_152996.2 NP_694541.2 Q8NDV1 SIA7C_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 241 protein glycosylation integral to Golgi membrane sialyltransferase activity p.T241I(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2) 36 ATAAATGACACCTACTGCAAG 0.403000 29 117 0 0 0.045705 0 0 FAM50A 9130 broad.mit.edu 37 X 153678637 153678637 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:153678637C>T ENST00000393600.3 + 12 1091 c.981C>T c.(979-981)taC>taT p.Y327Y NM_004699.3 NP_004690.1 Q14320 FA50A_HUMAN family with sequence similarity 50, member A 327 spermatogenesis nucleus p.Y327Y(1) breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1) 15 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGGAACCCTACGACCCTGAAA 0.622000 6 69 0 0 0.004482 0 0 CMYA5 202333 broad.mit.edu 37 5 79030937 79030937 + Missense_Mutation SNP G G C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr5:79030937G>C ENST00000446378.2 + 2 6380 c.6349G>C c.(6349-6351)Gat>Cat p.D2117H NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2117 perinuclear region of cytoplasm p.D2117H(2) NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TGATGATGCTGATGAGGGAAA 0.438000 20 49 0 0 0.008871 0 0 ARSG 22901 broad.mit.edu 37 17 66339822 66339822 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr17:66339822G>A ENST00000448504.2 + 3 1092 c.296G>A c.(295-297)cGc>cAc p.R99H ARSG_ENST00000452479.2_5'UTR NM_014960.4 NP_055775.2 Q96EG1 ARSG_HUMAN arylsulfatase G 99 sulfur compound metabolic process endoplasmic reticulum|extracellular space|lysosome arylsulfatase activity|metal ion binding p.R99H(1) NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 26 BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) CTTGGCCTTCGCAATGGAGTC 0.602000 5 49 0 0 0.021553 0 0 HYOU1 10525 broad.mit.edu 37 11 118922237 118922237 + Missense_Mutation SNP T T C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:118922237T>C ENST00000404233.3 - 13 1563 c.1439A>G c.(1438-1440)aAa>aGa p.K480R HYOU1_ENST00000543287.1_Missense_Mutation_p.K393R|HYOU1_ENST00000529972.1_Missense_Mutation_p.K480R|HYOU1_ENST00000525859.1_Missense_Mutation_p.K480R NM_001130991.1|NM_006389.3 NP_001124463.1|NP_006380.1 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 480 endoplasmic reticulum lumen ATP binding|protein binding p.K480R(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2) 33 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) GGTGATGACTTTGCGTTGAGG 0.562000 21 49 0 0 0.010504 0 0 C2orf80 389073 broad.mit.edu 37 2 209049757 209049757 + Splice_Site SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr2:209049757C>A ENST00000341287.4 - 3 237 c.e3-1 C2orf80_ENST00000453017.1_Splice_Site|C2orf80_ENST00000451346.1_Intron NM_001099334.2 NP_001092804.1 Q0P641 CB080_HUMAN chromosome 2 open reading frame 80 p.?(1) endometrium(2)|large_intestine(3)|lung(6)|skin(2) 13 ATAATCTCCCCTTAAAAGCAA 0.448000 9 61 0.000442599 0.000496673 0.006214 1 0 ZC3H3 23144 broad.mit.edu 37 8 144557623 144557623 + Silent SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr8:144557623G>A ENST00000262577.5 - 5 1879 c.1848C>T c.(1846-1848)ctC>ctT p.L616L NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 616 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding p.L616L(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) AGGTCTTGGAGAGCTTGTTGG 0.672000 5 47 0 0 0.029380 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47630484 47630484 + Missense_Mutation SNP A A T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr20:47630484A>T ENST00000371917.4 + 30 4166 c.4166A>T c.(4165-4167)gAg>gTg p.E1389V NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1389 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity p.E1389V(1) breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) AAACTCCCTGAGCAACTGTCA 0.483000 19 106 0 0 0.008871 0 0 DNAH7 56171 broad.mit.edu 37 2 196825586 196825586 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr2:196825586C>A ENST00000312428.6 - 18 2389 c.2289G>T c.(2287-2289)ttG>ttT p.L763F NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 763 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.L763F(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GATAAGGGTTCAAGCCATCTT 0.393000 7 133 2.7689e-08 3.5035e-08 0.029380 1 0 AP3D1 8943 broad.mit.edu 37 19 2115314 2115314 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:2115314C>T ENST00000355272.6 - 20 2459 c.2253G>A c.(2251-2253)aaG>aaA p.K751K AP3D1_ENST00000350812.6_Silent_p.K582K|AP3D1_ENST00000345016.5_Silent_p.K751K|AP3D1_ENST00000356926.4_Silent_p.K660K NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 751 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity p.K751K(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTTGCCcttcttctccttct 0.602000 13 47 0 0 0.013537 0 0 NELL1 4745 broad.mit.edu 37 11 21594952 21594952 + Nonsense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:21594952C>A ENST00000298925.5 + 20 2616 c.2463C>A c.(2461-2463)tgC>tgA p.C821* NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Nonsense_Mutation_p.C793*|NELL1_ENST00000325319.5_Nonsense_Mutation_p.C736*|NELL1_ENST00000532434.1_Nonsense_Mutation_p.C746* Q92832 NELL1_HUMAN NEL-like 1 (chicken) 793 cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity p.C793*(1) NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 CCTGTAAATGCAAGGTAATTG 0.468000 21 78 2.98393e-07 3.66344e-07 0.016522 1 0 ANO7 50636 broad.mit.edu 37 2 242149890 242149890 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr2:242149890G>A ENST00000274979.8 + 15 1731 c.1628G>A c.(1627-1629)cGc>cAc p.R543H ANO7_ENST00000402430.3_Missense_Mutation_p.R542H NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 543 cell junction|chloride channel complex|cytosol chloride channel activity p.R543H(1) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 TAGGCCTCTCGCATCGCCAGC 0.642000 5 45 0 0 0.021553 0 0 ABCA13 154664 broad.mit.edu 37 7 48413973 48413973 + Missense_Mutation SNP A A T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:48413973A>T ENST00000435803.1 + 34 11187 c.11163A>T c.(11161-11163)caA>caT p.Q3721H NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3721 transport integral to membrane ATP binding|ATPase activity p.Q3666H(1)|p.Q3721H(1) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CCTTTGGACAAGGGGTATTTT 0.413000 6 29 0 0 0.029380 0 0 TEX37 200523 broad.mit.edu 37 2 88828903 88828903 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr2:88828903C>A ENST00000303254.3 + 4 596 c.454C>A c.(454-456)Cta>Ata p.L152I NM_152670.2 NP_689883.1 testis expressed 37 p.L152I(1) AGGCTACCTGCTACTGCCAGG 0.562000 23 49 1.10923e-09 1.47107e-09 0.016522 1 0 FAT2 2196 broad.mit.edu 37 5 150943179 150943179 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr5:150943179G>T ENST00000261800.5 - 2 3293 c.3281C>A c.(3280-3282)cCc>cAc p.P1094H NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 1094 Cadherin 9. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding p.P1094H(1) NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCGGTCCAGGGGTGCCAGAGT 0.473000 4 44 1.23904e-05 1.44944e-05 0.014758 1 0 MAGEC2 51438 broad.mit.edu 37 X 141291003 141291003 + Silent SNP C C G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:141291003C>G ENST00000247452.3 - 3 1118 c.771G>C c.(769-771)ggG>ggC p.G257G NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 257 MAGE. cytoplasm|nucleus p.G257G(1) NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) CAGCATATACCCCTACTGCAT 0.532000 HNSCC(46;0.14) 61 178 0 0 0.014410 0 0 RPP40 10799 broad.mit.edu 37 6 5000118 5000118 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:5000118C>A ENST00000380051.2 - 4 402 c.358G>T c.(358-360)Gat>Tat p.D120Y RPP40_ENST00000319533.5_Missense_Mutation_p.D97Y|RPP40_ENST00000464646.1_Missense_Mutation_p.D60Y NM_006638.2 NP_006629.2 O75818 RPP40_HUMAN ribonuclease P/MRP 40kDa subunit 120 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity p.D120Y(1) NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 14 Ovarian(93;0.11) all_hematologic(90;0.0895) GTGTCTTTATCCAGTGACAAA 0.333000 55 67 1.13205e-32 1.92293e-32 0.014410 1 0 ZNF462 58499 broad.mit.edu 37 9 109746587 109746587 + Missense_Mutation SNP A A T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr9:109746587A>T ENST00000277225.5 + 10 7242 c.6953A>T c.(6952-6954)cAt>cTt p.H2318L ZNF462_ENST00000457913.1_Missense_Mutation_p.H2378L|ZNF462_ENST00000441147.2_Missense_Mutation_p.H1224L|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000542028.1_Missense_Mutation_p.H275L Q96JM2 ZN462_HUMAN zinc finger protein 462 2318 transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H2318L(1) NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CTCCAGCAACATATAGAAAAG 0.483000 9 58 0 0 0.004482 0 0 OR5A1 219982 broad.mit.edu 37 11 59211538 59211538 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:59211538G>T ENST00000302030.2 + 1 922 c.897G>T c.(895-897)gaG>gaT p.E299D NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E299D(1) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 GGAACAAAGAGATCAAGGATG 0.433000 61 124 1.79293e-35 3.06653e-35 0.014410 1 0 SLMO2 51012 broad.mit.edu 37 20 57613683 57613683 + Silent SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr20:57613683C>A ENST00000355937.4 - 2 217 c.39G>T c.(37-39)ccG>ccT p.P13P SLMO2_ENST00000371033.5_Silent_p.P13P NM_016045.2 NP_057129.2 Q9Y3B1 SLMO2_HUMAN slowmo homolog 2 (Drosophila) 13 PRELI/MSF1. p.P13P(1) endometrium(1)|lung(2)|skin(2) 5 all_lung(29;0.00711) Colorectal(105;0.109) CAGTTTCCCACGGGTGGCTGC 0.358000 22 90 8.10497e-08 1.01517e-07 0.010504 1 0 EGFR 1956 broad.mit.edu 37 7 55259515 55259515 + Missense_Mutation SNP T T G rs121434568 TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:55259515T>G ENST00000275493.2 + 21 2750 c.2573T>G c.(2572-2574)cTg>cGg p.L858R EGFR_ENST00000454757.2_Missense_Mutation_p.L805R|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.L813R NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 858 Protein kinase. L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L858R(1489)|p.L858Q(1)|p.L858K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GATTTTGGGCTGGCCAAACTG 0.537000 L858R(NCIH1975_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 15 75 0 0 0.020292 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369626 86369626 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr13:86369626G>T ENST00000400286.2 - 2 1616 c.1018C>A c.(1018-1020)Cca>Aca p.P340T NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 340 LRRNT 2. integral to membrane p.P340K(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) AGTCCTGATGGGGATAGGACT 0.448000 35 75 1.4065e-29 2.35683e-29 0.017118 1 0 PNLIPRP2 5408 broad.mit.edu 37 10 118383478 118383478 + RNA SNP A A T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr10:118383478A>T ENST00000537242.1 + 0 98 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity p.Q24H(2) endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GCTACGGACAACTTGGCTGCT 0.488000 13 41 0 0 0.028581 0 0 ATP1B4 23439 broad.mit.edu 37 X 119496040 119496040 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:119496040G>A ENST00000218008.3 + 1 74 c.17G>A c.(16-18)cGg>cAg p.R6Q ATP1B4_ENST00000361319.3_Missense_Mutation_p.R6Q|ATP1B4_ENST00000539306.1_Missense_Mutation_p.R6Q NM_001142447.2 NP_001135919.1 Q9UN42 AT1B4_HUMAN ATPase, Na+/K+ transporting, beta 4 polypeptide 6 ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity p.R6Q(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 33 AGGCAACTCCGGTCCAGAAGG 0.522000 12 198 0 0 0.020292 0 0 LRIG3 121227 broad.mit.edu 37 12 59272706 59272706 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr12:59272706G>T ENST00000320743.3 - 14 2269 c.1983C>A c.(1981-1983)ttC>ttA p.F661L LRIG3_ENST00000379141.4_Missense_Mutation_p.F601L NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 661 Ig-like C2-type 2. integral to membrane p.F661L(1) LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) CCACGATAAAGAACACGTCAT 0.542000 T ROS1 NSCLC 9 79 0.00448238 0.00483318 0.004482 1 0 SPATA31D1 389763 broad.mit.edu 37 9 84608465 84608465 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr9:84608465G>T ENST00000344803.2 + 4 3127 c.3080G>T c.(3079-3081)aGa>aTa p.R1027I NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 p.R1027I(2) TCCCTTAGAAGAGGTACTACA 0.448000 65 137 1.09529e-45 1.91291e-45 0.014410 1 0 TACR3 6870 broad.mit.edu 37 4 104512654 104512654 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr4:104512654G>T ENST00000304883.2 - 4 1215 c.1075C>A c.(1075-1077)Ctg>Atg p.L359M RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 359 integral to plasma membrane tachykinin receptor activity p.L359M(2) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) CTTTTATTCAGACAGCAGTAG 0.398000 22 71 2.89027e-11 4.09592e-11 0.014323 1 0 ALPK3 57538 broad.mit.edu 37 15 85411371 85411371 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr15:85411371C>T ENST00000258888.5 + 14 5575 c.5408C>T c.(5407-5409)cCt>cTt p.P1803L NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1803 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity p.P1803L(2) NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGCTGCTTCCCTGCCCTGCTG 0.647000 19 138 0 0 0.008871 0 0 ZNF638 27332 broad.mit.edu 37 2 71629097 71629097 + Missense_Mutation SNP A A C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr2:71629097A>C ENST00000409544.1 + 16 3339 c.2709A>C c.(2707-2709)gaA>gaC p.E903D ZNF638_ENST00000355812.3_Missense_Mutation_p.E903D|ZNF638_ENST00000264447.4_Missense_Mutation_p.E903D NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 903 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding p.E903D(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 AAACAGAAGAAATGTGTGTGA 0.269000 5 58 0 0 0.014758 0 0 NAV3 89795 broad.mit.edu 37 12 78582552 78582552 + Missense_Mutation SNP T T A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr12:78582552T>A ENST00000397909.2 + 33 6223 c.6050T>A c.(6049-6051)cTc>cAc p.L2017H NAV3_ENST00000536525.2_Missense_Mutation_p.L1995H|NAV3_ENST00000552300.1_Intron|NAV3_ENST00000266692.7_Missense_Mutation_p.L1818H|NAV3_ENST00000228327.6_Missense_Mutation_p.L1995H Q8IVL0 NAV3_HUMAN neuron navigator 3 2017 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.L1995H(1) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ACTGTGAACCTCAAAGGTAAA 0.378000 HNSCC(70;0.22) 16 44 0 0 0.024245 0 0 GOLGB1 2804 broad.mit.edu 37 3 121413585 121413585 + Nonsense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:121413585C>A ENST00000393667.3 - 13 5895 c.5785G>T c.(5785-5787)Gag>Tag p.E1929* GOLGB1_ENST00000340645.5_Nonsense_Mutation_p.E1924* NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 1924 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding p.E1924*(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) ATAAGCCTCTCTTCCAAATCA 0.368000 56 126 1.54886e-18 2.41583e-18 0.014410 1 0 PCDHB17P 54661 broad.mit.edu 37 5 140536921 140536921 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr5:140536921G>A ENST00000539533.1 + 1 1345 c.1345G>A c.(1345-1347)Gcc>Acc p.A449T p.A449T(2) CAATGACAACGCCCCCGCCTT 0.587000 5 91 0 0 0.029380 0 0 NOTCH4 4855 broad.mit.edu 37 6 32184794 32184794 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:32184794G>T ENST00000375023.3 - 11 1927 c.1789C>A c.(1789-1791)Cca>Aca p.P597T NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 597 EGF-like 15; calcium-binding (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity p.P597K(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 ACGGGACATGGGTCACTCAGG 0.582000 28 29 9.39395e-14 1.37852e-13 0.030593 1 0 SLC6A13 6540 broad.mit.edu 37 12 330154 330154 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr12:330154G>T ENST00000343164.4 - 15 1821 c.1769C>A c.(1768-1770)aCc>aAc p.T590N SLC6A13_ENST00000445055.2_Missense_Mutation_p.T498N NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 590 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity p.T590N(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) GAGCAGTGAGGTCCTGGGGGT 0.657000 6 26 0.00116845 0.00128789 0.021553 1 0 COL5A1 1289 broad.mit.edu 37 9 137704300 137704300 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr9:137704300G>T ENST00000371817.3 + 47 4110 c.3696G>T c.(3694-3696)ttG>ttT p.L1232F NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1232 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding p.L1232F(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CTCAGGGTTTGCCAGGACCTC 0.542000 4 30 0.00909568 0.00959885 0.009096 1 0 TMEM168 64418 broad.mit.edu 37 7 112423771 112423771 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:112423771C>A ENST00000312814.5 - 2 1670 c.1110G>T c.(1108-1110)ttG>ttT p.L370F TMEM168_ENST00000454074.1_Missense_Mutation_p.L370F NM_022484.4 NP_071929.3 Q9H0V1 TM168_HUMAN transmembrane protein 168 370 integral to membrane|transport vesicle p.L370F(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1) 32 AAACTGCTCCCAAAATCGCTG 0.398000 50 91 1.56793e-16 2.38555e-16 0.014410 1 0 HTATSF1 27336 broad.mit.edu 37 X 135592353 135592353 + Missense_Mutation SNP C C G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:135592353C>G ENST00000535601.1 + 9 1459 c.1037C>G c.(1036-1038)gCa>gGa p.A346G HTATSF1_ENST00000218364.4_Missense_Mutation_p.A346G NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 346 RRM 2. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding p.A346G(1) NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) ACTGCCCAGGCATGGGATGGG 0.448000 77 298 0 0 0.014410 0 0 FCGBP 8857 broad.mit.edu 37 19 40434113 40434113 + Nonsense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:40434113G>T ENST00000221347.6 - 2 163 c.156C>A c.(154-156)taC>taA p.Y52* NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 52 IgGFc-binding. extracellular region protein binding p.Y52*(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGAGGCGGGGGTAGGCCTTGC 0.577000 19 65 1.28384e-07 1.59196e-07 0.012319 1 0 MAGEH1 28986 broad.mit.edu 37 X 55479280 55479280 + Missense_Mutation SNP A A C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:55479280A>C ENST00000342972.1 + 1 743 c.473A>C c.(472-474)gAg>gCg p.E158A NM_014061.3 NP_054780.2 Q9H213 MAGH1_HUMAN melanoma antigen family H, 1 158 MAGE. apoptosis p.E158A(1) central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2) 15 AGTCCGGTGGAGTATGAGTTC 0.517000 6 59 0 0 0.021553 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18622297 18622297 + Silent SNP C C A rs143328816 TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr9:18622297C>A ENST00000380548.4 + 5 870 c.531C>A c.(529-531)gtC>gtA p.V177V ADAMTSL1_ENST00000276935.6_Silent_p.V177V|ADAMTSL1_ENST00000380566.4_Silent_p.V177V|ADAMTSL1_ENST00000327883.7_Silent_p.V177V|ADAMTSL1_ENST00000380570.4_Silent_p.V177V NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 177 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding p.V177V(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) ACTGTGGGGTCTGCAACGGAG 0.527000 18 32 1.67942e-08 2.15499e-08 0.038395 1 0 HSPA1L 3305 broad.mit.edu 37 6 31779552 31779552 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:31779552C>T ENST00000375654.4 - 2 387 c.198G>A c.(196-198)caG>caA p.Q66Q HSPA1L_ENST00000417199.3_Silent_p.Q66Q NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 66 response to unfolded protein ATP binding p.Q66Q(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 AAACAGTGTTCTGGGGATTCA 0.493000 84 63 0 0 0.014410 0 0 GRIK4 2900 broad.mit.edu 37 11 120690598 120690598 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:120690598C>T ENST00000527524.2 + 6 767 c.480C>T c.(478-480)acC>acT p.T160T GRIK4_ENST00000438375.2_Silent_p.T160T Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 160 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.T160T(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) TCAACTGCACCACCGCCTGCC 0.537000 8 198 0 0 0.008291 0 0 KIF20B 9585 broad.mit.edu 37 10 91469165 91469165 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr10:91469165C>T ENST00000416354.1 + 4 370 c.298C>T c.(298-300)Cgg>Tgg p.R100W KIF20B_ENST00000394289.2_Missense_Mutation_p.R100W|KIF20B_ENST00000260753.4_Missense_Mutation_p.R100W|KIF20B_ENST00000371728.3_Missense_Mutation_p.R100W Q96Q89 KI20B_HUMAN kinesin family member 20B 100 Kinesin-motor. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding p.R100W(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 CATCCTTGGTCGGTTAAGTGA 0.368000 16 147 0 0 0.028581 0 0 PAK3 5063 broad.mit.edu 37 X 110366401 110366401 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:110366401G>A ENST00000519681.1 + 5 512 c.70G>A c.(70-72)Gat>Aat p.D24N PAK3_ENST00000518291.1_Missense_Mutation_p.D24N|PAK3_ENST00000262836.4_Missense_Mutation_p.D24N|PAK3_ENST00000446737.1_Missense_Mutation_p.D24N|PAK3_ENST00000425146.1_Missense_Mutation_p.D24N|PAK3_ENST00000417227.1_Missense_Mutation_p.D24N|PAK3_ENST00000372007.4_Missense_Mutation_p.D24N|PAK3_ENST00000372010.1_Missense_Mutation_p.D24N|PAK3_ENST00000360648.4_Missense_Mutation_p.D24N O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 24 multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding p.D24N(2) breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 TAACAACCGGGATTCTTCAGC 0.488000 TSP Lung(19;0.15) 78 71 0 0 0.014410 0 0 RPL31P11 641311 broad.mit.edu 37 1 161655008 161655008 + RNA SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:161655008G>T ENST00000426558.1 - 0 34 NR_002595.1 ATTCTGCCGGGTCCAAGTTGG 0.483000 3 11 0.004672 0.00501583 0.004672 1 0 ATP1B1 481 broad.mit.edu 37 1 169100659 169100659 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:169100659G>T ENST00000367816.1 + 7 1307 c.778G>T c.(778-780)Gcc>Tcc p.A260S ATP1B1_ENST00000499679.3_Missense_Mutation_p.A204S|ATP1B1_ENST00000367813.3_Missense_Mutation_p.A252S|ATP1B1_ENST00000367815.3_Missense_Mutation_p.A260S P05026 AT1B1_HUMAN ATPase, Na+/K+ transporting, beta 1 polypeptide 260 ATP biosynthetic process|blood coagulation|leukocyte migration sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity p.A260S(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 14 all_hematologic(923;0.208) GCCCCTGCTGGCCGTACAGTT 0.498000 7 151 0.00448238 0.00483318 0.004482 1 0 STOML3 161003 broad.mit.edu 37 13 39546705 39546705 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr13:39546705C>A ENST00000379631.4 - 4 600 c.256G>T c.(256-258)Gat>Tat p.D86Y STOML3_ENST00000423210.1_Missense_Mutation_p.D77Y NM_145286.2 NP_660329.1 Q8TAV4 STML3_HUMAN stomatin (EPB72)-like 3 86 integral to membrane|plasma membrane p.D86Y(1) breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) ACAAACACATCTATGCATGGC 0.373000 32 82 2.20474e-14 3.25461e-14 0.017118 1 0 OSBPL1A 114876 broad.mit.edu 37 18 21898723 21898723 + Missense_Mutation SNP C C G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr18:21898723C>G ENST00000319481.3 - 8 882 c.676G>C c.(676-678)Gtt>Ctt p.V226L NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 226 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding p.V226L(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) TTATTACCAACAAGAATGTGT 0.294000 16 39 0 0 0.028581 0 0 PCDH9 5101 broad.mit.edu 37 13 67801795 67801795 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr13:67801795G>T ENST00000544246.1 - 2 1469 c.778C>A c.(778-780)Cat>Aat p.H260N PCDH9_ENST00000377865.2_Missense_Mutation_p.H260N|PCDH9_ENST00000377861.3_Missense_Mutation_p.H260N|PCDH9_ENST00000328454.5_Missense_Mutation_p.H260N|PCDH9_ENST00000456367.1_Missense_Mutation_p.H260N NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 260 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.H260N(1) breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TCTGGAATATGCACCTCCACT 0.473000 5 62 0.014758 0.0153781 0.014758 1 0 MDH1B 130752 broad.mit.edu 37 2 207615733 207615733 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr2:207615733C>A ENST00000374412.3 - 6 1252 c.977G>T c.(976-978)aGg>aTg p.R326M MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.R326M|MDH1B_ENST00000449792.1_Missense_Mutation_p.R228M NM_001039845.1 NP_001034934.1 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 326 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity p.R326M(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1) 34 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) TCTGTACACCCTTGTTTTTCT 0.338000 11 97 5.50884e-06 6.56823e-06 0.013537 1 0 AP3D1 8943 broad.mit.edu 37 19 2120872 2120872 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:2120872C>T ENST00000355272.6 - 14 1676 c.1470G>A c.(1468-1470)ggG>ggA p.G490G AP3D1_ENST00000350812.6_Silent_p.G321G|AP3D1_ENST00000345016.5_Silent_p.G490G|AP3D1_ENST00000356926.4_Silent_p.G399G NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 490 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity p.G490G(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGAGAACTCCCCGCAGATCC 0.637000 6 36 0 0 0.029380 0 0 TPSG1 25823 broad.mit.edu 37 16 1272752 1272752 + Silent SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr16:1272752G>T ENST00000234798.4 - 4 415 c.411C>A c.(409-411)ctC>ctA p.L137L NM_012467.3 NP_036599.3 Q9NRR2 TRYG1_HUMAN tryptase gamma 1 137 Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity p.L137L(1) liver(1)|lung(2)|skin(1) 4 Hepatocellular(780;0.00369) TCCGGCTGGAGAGGGTCACGG 0.682000 12 39 2.27111e-07 2.80217e-07 0.013537 1 0 MUC16 94025 broad.mit.edu 37 19 9063968 9063968 + Silent SNP A A C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:9063968A>C ENST00000397910.4 - 3 23681 c.23478T>G c.(23476-23478)gcT>gcG p.A7826A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7828 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.A7826A(2)|p.A3459A(1) 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 TCAGGGAGGAAGCTAGCTCTG 0.542000 10 69 0 0 0.006214 0 0 ATP8B4 79895 broad.mit.edu 37 15 50271825 50271825 + Silent SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr15:50271825G>A ENST00000284509.6 - 12 1164 c.1023C>T c.(1021-1023)tcC>tcT p.S341S ATP8B4_ENST00000559829.1_Silent_p.S341S|ATP8B4_ENST00000558959.1_5'UTR NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 341 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.S341S(1) breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TCACATATAAGGAAATGGGTA 0.308000 10 139 0 0 0.010729 0 0 AOAH 313 broad.mit.edu 37 7 36763656 36763656 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:36763656G>T ENST00000431169.1 - 1 398 c.98C>A c.(97-99)cCc>cAc p.P33H AOAH_ENST00000258749.5_Missense_Mutation_p.P33H|AOAH_ENST00000535891.1_Missense_Mutation_p.P33H NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 33 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity p.P33H(1) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 CGAGAGGCTGGGCCTGGACTG 0.483000 20 33 1.2644e-06 1.52962e-06 0.010504 1 0 OR5M8 219484 broad.mit.edu 37 11 56258623 56258623 + Missense_Mutation SNP T T C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:56258623T>C ENST00000327216.2 - 1 248 c.224A>G c.(223-225)aAt>aGt p.N75S NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N75S(1) 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) TGGAGTCACATTGGAAGAGAA 0.473000 32 59 0 0 0.041601 0 0 HLX 3142 broad.mit.edu 37 1 221053723 221053723 + Missense_Mutation SNP A A G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:221053723A>G ENST00000366903.6 + 1 2025 c.524A>G c.(523-525)aAa>aGa p.K175R NM_021958.3 NP_068777.1 Q14774 HLX_HUMAN H2.0-like homeobox 175 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.K175R(1) breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(131;0.00914) AAAGACCTCAAATTTGGAATT 0.622000 12 51 0 0 0.010729 0 0 OPRK1 4986 broad.mit.edu 37 8 54142118 54142118 + Silent SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr8:54142118G>T ENST00000265572.3 - 4 1179 c.882C>A c.(880-882)atC>atA p.I294I RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Silent_p.I205I|OPRK1_ENST00000520287.1_Silent_p.I294I NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 294 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding p.L295M(1) NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) CCTCCACCAGGATGAATATGT 0.557000 12 12 0.010729 0.011227 0.010729 1 0 OR8K3 219473 broad.mit.edu 37 11 56086612 56086612 + Missense_Mutation SNP A A T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:56086612A>T ENST00000312711.1 + 1 830 c.830A>T c.(829-831)tAc>tTc p.Y277F NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y277F(1) central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) TCCATATTTTACACCCTGGTT 0.393000 25 53 0 0 0.024334 0 0 ITGAL 3683 broad.mit.edu 37 16 30522454 30522454 + Missense_Mutation SNP A A T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr16:30522454A>T ENST00000356798.6 + 24 2963 c.2783A>T c.(2782-2784)cAg>cTg p.Q928L ITGAL_ENST00000433423.2_Missense_Mutation_p.Q162L|ITGAL_ENST00000358164.5_Missense_Mutation_p.Q844L NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 928 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity p.Q928L(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) ATCCTCATCCAGGAGTAAGTT 0.577000 16 54 0 0 0.028581 0 0 ZNF730 100129543 broad.mit.edu 37 19 23318843 23318843 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:23318843C>A ENST00000597761.2 + 3 423 c.224C>A c.(223-225)cCa>cAa p.P75Q ZNF730_ENST00000593635.1_Missense_Mutation_p.P43Q NM_001277403.1 NP_001264332.1 zinc finger protein 730 p.P75Q(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1) 16 GCCAAACCCCCAGGTAGGTGA 0.358000 15 41 2.32078e-09 3.04526e-09 0.024245 1 0 MECOM 2122 broad.mit.edu 37 3 168840508 168840508 + Missense_Mutation SNP T T C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:168840508T>C ENST00000464456.1 - 5 1474 c.274A>G c.(274-276)Aaa>Gaa p.K92E MECOM_ENST00000264674.3_Missense_Mutation_p.K156E|MECOM_ENST00000472280.1_Missense_Mutation_p.K92E|MECOM_ENST00000392736.3_Missense_Mutation_p.K92E|MECOM_ENST00000468789.1_Missense_Mutation_p.K92E|MECOM_ENST00000433243.2_Missense_Mutation_p.K92E|MECOM_ENST00000494292.1_Missense_Mutation_p.K280E|MECOM_ENST00000460814.1_Missense_Mutation_p.K92E NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity p.K92E(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 AGCATGTGTTTCTCCAGGCTG 0.368000 6 71 0 0 0.029380 0 0 NUP210L 91181 broad.mit.edu 37 1 153998192 153998192 + Splice_Site SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:153998192C>A ENST00000368559.3 - 30 4019 c.3947_splice c.e30-1 p.R1316_splice NUP210L_ENST00000368553.1_Splice_Site_p.R249_splice|NUP210L_ENST00000271854.3_Splice_Site_p.R1316_splice NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1316 integral to membrane p.R1316S(1) NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CAGCTCCTTCCCTAGGGAACA 0.473000 14 280 0.00316338 0.00345603 0.024245 1 0 KRT222 125113 broad.mit.edu 37 17 38818199 38818199 + Missense_Mutation SNP A A T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr17:38818199A>T ENST00000476049.1 - 2 235 c.194T>A c.(193-195)cTg>cAg p.L65Q KRT222_ENST00000394052.3_Missense_Mutation_p.L65Q Q8N1A0 KT222_HUMAN keratin 222 65 intermediate filament structural molecule activity p.L65Q(1) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1) 15 TTCCACTTGCAGGTGGTGCCA 0.458000 95 171 0 0 0.014410 0 0 OR2T10 127069 broad.mit.edu 37 1 248756148 248756148 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:248756148G>T ENST00000330500.2 - 1 952 c.922C>A c.(922-924)Cag>Aag p.Q308K NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q308K(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGAGGTTTCTGCACGCTCAGC 0.383000 42 19 3.54909e-21 5.64214e-21 0.042209 1 0 PDK1 5163 broad.mit.edu 37 2 173435514 173435514 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr2:173435514G>A ENST00000410055.1 + 8 1007 c.907G>A c.(907-909)Gtt>Att p.V303I PDK1_ENST00000392571.2_Missense_Mutation_p.V323I|PDK1_ENST00000544863.1_Missense_Mutation_p.V148I|PDK1_ENST00000543905.1_Missense_Mutation_p.V227I|PDK1_ENST00000282077.2_Missense_Mutation_p.V303I NM_002610.3 NP_002601.1 Q15118 PDK1_HUMAN pyruvate dehydrogenase kinase, isozyme 1 303 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity p.V303I(1) central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(117;0.12) CCCTATTCAAGTTCATGTCAC 0.353000 Autosomal Dominant Polycystic Kidney Disease 20 48 0 0 0.018920 0 0 PEX1 5189 broad.mit.edu 37 7 92130962 92130962 + Missense_Mutation SNP G G T rs145430946 byFrequency TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:92130962G>T ENST00000248633.4 - 15 2537 c.2442C>A c.(2440-2442)ttC>ttA p.F814L PEX1_ENST00000428214.1_Missense_Mutation_p.F757L|PEX1_ENST00000438045.1_Missense_Mutation_p.F492L|PEX1_ENST00000541751.1_3'UTR NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 814 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding p.F814L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) GAGCCTTTTGGAAGTCCAATG 0.363000 9 72 2.74318e-10 3.73796e-10 0.006214 1 0 OR5D13 390142 broad.mit.edu 37 11 55541680 55541680 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:55541680C>A ENST00000361760.1 + 1 767 c.767C>A c.(766-768)aCt>aAt p.T256N NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T256N(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TTCCATGGAACTATCCTTTTC 0.448000 17 77 0.000566183 0.000632493 0.033300 1 0 PROKR2 128674 broad.mit.edu 37 20 5294904 5294904 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr20:5294904C>T ENST00000546004.1 - 2 358 c.112G>A c.(112-114)Gat>Aat p.D38N PROKR2_ENST00000217270.3_Missense_Mutation_p.D38N Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 38 integral to membrane|plasma membrane neuropeptide Y receptor activity p.D38N(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 TCATCCTCATCCATAGGGAGG 0.507000 HNSCC(71;0.22) 15 82 0 0 0.028581 0 0 CYP2U1 113612 broad.mit.edu 37 4 108868619 108868619 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr4:108868619C>A ENST00000332884.6 + 3 1489 c.1214C>A c.(1213-1215)gCc>gAc p.A405D CYP2U1_ENST00000508453.1_Missense_Mutation_p.A196D|RP11-286E11.1_ENST00000513071.1_RNA NM_183075.2 NP_898898.1 Q7Z449 CP2U1_HUMAN cytochrome P450, family 2, subfamily U, polypeptide 1 405 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding p.A405D(1) breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000128) TACACAGAAGCCACCATCATG 0.498000 19 41 8.00594e-06 9.49987e-06 0.043863 1 0 WLS 79971 broad.mit.edu 37 1 68620819 68620819 + Missense_Mutation SNP T T C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:68620819T>C ENST00000262348.4 - 4 882 c.629A>G c.(628-630)aAt>aGt p.N210S GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.N119S|WLS_ENST00000491811.1_5'UTR|WLS_ENST00000354777.2_Missense_Mutation_p.N208S|WLS_ENST00000540432.1_Missense_Mutation_p.N210S|GNG12-AS1_ENST00000413628.1_RNA NM_024911.6 NP_079187.3 Q5T9L3 WLS_HUMAN wntless Wnt ligand secretion mediator 210 Interacts with Wnt proteins (By similarity). multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway cytoplasmic vesicle membrane|Golgi membrane|integral to membrane signal transducer activity p.N208S(1)|p.N210S(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1) 20 AATTCCCACATTGATTTTCTT 0.423000 81 182 0 0 0.014410 0 0 ZNF169 169841 broad.mit.edu 37 9 97054749 97054749 + Splice_Site SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr9:97054749G>T ENST00000480716.1 + 2 215 c.160_splice c.e2+1 p.G54_splice ZNF169_ENST00000375354.4_Splice_Site_p.G54_splice|ZNF169_ENST00000395395.2_Splice_Site_p.G54_splice|ZNF169_ENST00000481550.2_Splice_Site_p.G54_splice|ZNF169_ENST00000340911.4_Splice_Site_p.G54_splice Q14929 ZN169_HUMAN zinc finger protein 169 54 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G54*(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(62;0.136) GGTCTCCCTGGGTAAGGCTGG 0.483000 6 32 2.0095e-06 2.4192e-06 0.029380 1 0 PLEKHG2 64857 broad.mit.edu 37 19 39915029 39915029 + Missense_Mutation SNP G G C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:39915029G>C ENST00000425673.1 + 17 3494 c.3169G>C c.(3169-3171)Gat>Cat p.D1057H PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.D1086H|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.D1027H|PLEKHG2_ENST00000409797.2_Intron Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 1086 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity p.D1044H(1)|p.D1027H(1)|p.D1086H(1) breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) AAGCAGCCTGGATCCCCAGGG 0.582000 19 45 0 0 0.038395 0 0 OR5T3 390154 broad.mit.edu 37 11 56020310 56020310 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:56020310C>A ENST00000303059.3 + 1 635 c.635C>A c.(634-636)cCt>cAt p.P212H NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P212H(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) TGTGATATGCCTCCTCTCCTT 0.408000 91 187 3.60193e-44 6.20332e-44 0.014410 1 0 FAP 2191 broad.mit.edu 37 2 163066498 163066498 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr2:163066498C>T ENST00000188790.4 - 12 1218 c.1011G>A c.(1009-1011)gaG>gaA p.E337E FAP_ENST00000443424.1_Silent_p.E312E NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 337 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 CTTCTATATGCTCCTGGGTCT 0.363000 10 72 0 0 0.013537 0 0 SMO 6608 broad.mit.edu 37 7 128851599 128851599 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:128851599G>T ENST00000249373.3 + 11 2204 c.1924G>T c.(1924-1926)Gtg>Ttg p.V642L RP11-286H14.8_ENST00000466717.1_RNA NM_005631.4 NP_005622.1 Q99835 SMO_HUMAN smoothened, frizzled family receptor 642 adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.V642L(1) biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TGTCACCCCTGTGGCAACTCC 0.602000 Mis skin basal cell 19 48 7.45023e-12 1.06187e-11 0.010504 1 0 GBP5 115362 broad.mit.edu 37 1 89732742 89732742 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:89732742C>A ENST00000343435.5 - 6 1059 c.523G>T c.(523-525)Gac>Tac p.D175Y GBP5_ENST00000370459.3_Missense_Mutation_p.D175Y|RP4-620F22.2_ENST00000437128.1_RNA NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 175 plasma membrane GTP binding|GTPase activity p.D175Y(1) breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) CACACTAAGTCTGGGAAGAAG 0.488000 44 140 1.7489e-18 2.7108e-18 0.042209 1 0 KL 9365 broad.mit.edu 37 13 33634951 33634951 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr13:33634951C>A ENST00000380099.3 + 4 1743 c.1735C>A c.(1735-1737)Cag>Aag p.Q579K KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 579 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding p.Q579K(1) breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TGCTGCCATCCAGCCCCAGAT 0.498000 34 57 1.30998e-17 2.00541e-17 0.023175 1 0 LILRP2 79166 broad.mit.edu 37 19 55221511 55221511 + RNA SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:55221511C>A ENST00000413439.1 + 0 1291 CTGGGCTCTCCCAGGCCAACT 0.637000 10 20 0.00829132 0.00882509 0.008291 1 0 DUOX1 53905 broad.mit.edu 37 15 45444641 45444641 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr15:45444641C>T ENST00000321429.4 + 26 3758 c.3351C>T c.(3349-3351)ctC>ctT p.L1117L DUOX1_ENST00000389037.3_Silent_p.L1117L|DUOX1_ENST00000561166.1_Silent_p.L763L NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 1117 Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity p.L1117L(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) AAACCTTCCTCAACCGCTACG 0.612000 4 33 0 0 0.021553 0 0 AHNAK2 113146 broad.mit.edu 37 14 105412058 105412058 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr14:105412058G>T ENST00000333244.5 - 7 9849 c.9730C>A c.(9730-9732)Ccc>Acc p.P3244T AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3244 nucleus p.P3244T(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCTATCTGGGGGCCCTTGCGA 0.612000 21 61 1.04352e-10 1.43773e-10 0.017118 1 0 C19orf18 147685 broad.mit.edu 37 19 58472789 58472789 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:58472789C>T ENST00000314391.3 - 5 603 c.502G>A c.(502-504)Gaa>Aaa p.E168K NM_152474.4 NP_689687.1 Q8NEA5 CS018_HUMAN chromosome 19 open reading frame 18 168 integral to membrane p.E168K(1) large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017) AGCTCATTTTCGTTCTCTGGA 0.488000 4 69 0 0 0.014758 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55024510 55024510 + Missense_Mutation SNP G G C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr18:55024510G>C ENST00000324000.3 + 3 2703 c.669G>C c.(667-669)ttG>ttC p.L223F NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 223 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity p.L223F(1) breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) ACAATCTCTTGACTATTCAGG 0.423000 13 49 0 0 0.013537 0 0 CACNA1E 777 broad.mit.edu 37 1 181726250 181726250 + Silent SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:181726250G>T ENST00000526775.1 + 29 4425 c.4260G>T c.(4258-4260)ctG>ctT p.L1420L CACNA1E_ENST00000367567.4_Silent_p.L1046L|CACNA1E_ENST00000360108.3_Silent_p.L1420L|CACNA1E_ENST00000357570.5_Silent_p.L1390L|CACNA1E_ENST00000367573.2_Silent_p.L1439L|CACNA1E_ENST00000367570.1_Silent_p.L1439L|CACNA1E_ENST00000358338.5_Silent_p.L1371L NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1439 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.L1439L(2) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AGTGCAGCCTGGAGAAGAATG 0.468000 6 43 0.00116845 0.00128789 0.021553 1 0 SCAND3 114821 broad.mit.edu 37 6 28542849 28542849 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:28542849G>T ENST00000452236.2 - 3 2250 c.1633C>A c.(1633-1635)Cat>Aat p.H545N NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 545 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity p.H545N(1) NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TTTTCTGTATGCAAGCTGGCA 0.403000 10 99 0.00621372 0.00664225 0.006214 1 0 SPATA31E1 286234 broad.mit.edu 37 9 90502272 90502272 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr9:90502272G>T ENST00000325643.5 + 4 2936 c.2870G>T c.(2869-2871)gGg>gTg p.G957V NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 p.G957V(1) AAGGGCAGGGGGTGTTCTCAG 0.622000 12 23 1.61879e-10 2.21801e-10 0.013537 1 0 ZNF516 9658 broad.mit.edu 37 18 74154250 74154250 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr18:74154250C>A ENST00000443185.2 - 3 1078 c.761G>T c.(760-762)gGc>gTc p.G254V ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 254 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G254V(1) central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GAAGGCCTGGCCACACACCTC 0.682000 9 10 1.12685e-05 1.32445e-05 0.004482 1 0 ATG10 83734 broad.mit.edu 37 5 81460256 81460256 + Missense_Mutation SNP T T G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr5:81460256T>G ENST00000282185.3 + 4 549 c.255T>G c.(253-255)atT>atG p.I85M ATG10_ENST00000513634.1_Missense_Mutation_p.I85M|ATG10_ENST00000458350.3_Missense_Mutation_p.I85M NM_031482.4 NP_113670.1 Q9H0Y0 ATG10_HUMAN autophagy related 10 85 autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport cytoplasm Atg12 ligase activity|protein binding p.I85M(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2) 9 Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30) GTGAAGTGATTGAAACTGCAG 0.378000 49 85 0 0 0.014410 0 0 PTPDC1 138639 broad.mit.edu 37 9 96859891 96859891 + Missense_Mutation SNP A A G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr9:96859891A>G ENST00000375360.3 + 7 1221 c.881A>G c.(880-882)aAa>aGa p.K294R PTPDC1_ENST00000288976.3_Missense_Mutation_p.K346R NM_001253830.1|NM_177995.2 NP_001240759.1|NP_818931.1 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 294 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.K346R(1)|p.K294R(1) endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 CTAGTTTGCAAATTGCTGCTG 0.458000 14 56 0 0 0.016723 0 0 KCNH1 3756 broad.mit.edu 37 1 211192451 211192451 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:211192451G>T ENST00000367007.4 - 6 875 c.706C>A c.(706-708)Cct>Act p.P236T KCNH1_ENST00000271751.4_Missense_Mutation_p.P236T NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 236 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity p.P236T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) ACATTATAAGGGACCAAGATG 0.418000 44 58 2.47872e-24 4.07102e-24 0.039052 1 0 TBC1D22B 55633 broad.mit.edu 37 6 37250728 37250728 + Splice_Site SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:37250728G>A ENST00000373491.3 + 5 818 c.672_splice c.e5+1 p.S224_splice NM_017772.2 NP_060242.2 Q9NU19 TB22B_HUMAN TBC1 domain family, member 22B 224 Rab-GAP TBC. intracellular Rab GTPase activator activity p.S224S(1) breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1) 15 OV - Ovarian serous cystadenocarcinoma(102;0.241) GACTCCTGTCGGTGAGTTCTA 0.483000 9 21 0 0 0.004482 0 0 FZD2 2535 broad.mit.edu 37 17 42635330 42635330 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr17:42635330C>T ENST00000315323.3 + 1 406 c.274C>T c.(274-276)Ctg>Ttg p.L92L NM_001466.3 NP_001457.1 Q14332 FZD2_HUMAN frizzled family receptor 2 92 FZ. axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.L92L(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8) 33 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) GCGCTTCTTCCTGTGCTCCAT 0.642000 5 78 0 0 0.029380 0 0 TMEM204 79652 broad.mit.edu 37 16 1604799 1604799 + Silent SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr16:1604799C>A ENST00000566264.1 + 3 1156 c.453C>A c.(451-453)atC>atA p.I151I IFT140_ENST00000439987.2_Intron|TMEM204_ENST00000253934.5_Silent_p.I151I|IFT140_ENST00000426508.2_Intron NM_024600.5 NP_078876.2 Q9BSN7 TM204_HUMAN transmembrane protein 204 151 response to stress adherens junction|integral to membrane p.I151I(1) NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 11 Hepatocellular(780;0.219) TCCTGGTCATCGGGCTCGTGA 0.587000 35 67 3.09479e-21 4.95166e-21 0.027894 1 0 SCN10A 6336 broad.mit.edu 37 3 38770309 38770309 + Silent SNP C C G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:38770309C>G ENST00000449082.2 - 15 2363 c.2364G>C c.(2362-2364)ggG>ggC p.G788G NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 788 sensory perception voltage-gated sodium channel complex p.G788G(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGGTGAGGTTCCCCAGTGCCC 0.502000 5 50 0 0 0.014758 0 0 KMT2C 58508 broad.mit.edu 37 7 151873473 151873473 + Missense_Mutation SNP G G A rs141345566 TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:151873473G>A ENST00000355193.2 - 38 9283 c.9065C>T c.(9064-9066)aCc>aTc p.T3022I KMT2C_ENST00000262189.6_Missense_Mutation_p.T3022I lysine (K)-specific methyltransferase 2C p.T3022I(2) CATGCTACTGGTACCAGACTG 0.478000 25 89 0 0 0.024334 0 0 NOTCH4 4855 broad.mit.edu 37 6 32184793 32184793 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:32184793G>T ENST00000375023.3 - 11 1928 c.1790C>A c.(1789-1791)cCa>cAa p.P597Q NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 597 EGF-like 15; calcium-binding (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity p.P597K(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 AACGGGACATGGGTCACTCAG 0.582000 29 29 7.26314e-15 1.0851e-14 0.034045 1 0 KRT1 3848 broad.mit.edu 37 12 53072009 53072009 + Splice_Site SNP T T C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr12:53072009T>C ENST00000252244.3 - 3 865 c.e3-2 NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding p.?(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 TCCTCATACCTGCAGGAAAGC 0.403000 9 25 0 0 0.006214 0 0 ZNF225 7768 broad.mit.edu 37 19 44635941 44635941 + Nonsense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:44635941C>T ENST00000262894.6 + 5 1454 c.1174C>T c.(1174-1176)Cga>Tga p.R392* ZNF225_ENST00000590612.1_Nonsense_Mutation_p.R392*|ZNF225_ENST00000592780.1_3'UTR NM_013362.2 NP_037494.2 Q9UK10 ZN225_HUMAN zinc finger protein 225 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R392*(1) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 16 Prostate(69;0.0352)|all_neural(266;0.202) AAGACATGTGCGAGTCCACAG 0.428000 9 93 0 0 0.008291 0 0 ADARB1 104 broad.mit.edu 37 21 46604837 46604837 + Splice_Site SNP G G C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr21:46604837G>C ENST00000539173.1 + 9 1951 c.e9-1 ADARB1_ENST00000348831.4_Splice_Site|ADARB1_ENST00000437626.1_Splice_Site|ADARB1_ENST00000360697.3_Splice_Site|ADARB1_ENST00000389863.4_Splice_Site NM_015833.3 NP_056648.1 P78563 RED1_HUMAN adenosine deaminase, RNA-specific, B1 adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding p.?(2) endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1) 17 Colorectal(79;0.115) TTCTCTCTTAGAACCAGCAGA 0.398000 10 116 0 0 0.008291 0 0 PCDH9 5101 broad.mit.edu 37 13 67801796 67801796 + Silent SNP C C G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr13:67801796C>G ENST00000544246.1 - 2 1468 c.777G>C c.(775-777)gtG>gtC p.V259V PCDH9_ENST00000377865.2_Silent_p.V259V|PCDH9_ENST00000377861.3_Silent_p.V259V|PCDH9_ENST00000328454.5_Silent_p.V259V|PCDH9_ENST00000456367.1_Silent_p.V259V NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 259 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.H260N(1) breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) CTGGAATATGCACCTCCACTT 0.468000 6 63 0 0 0.021553 0 0 OR51A7 119687 broad.mit.edu 37 11 4929304 4929304 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:4929304G>T ENST00000359350.4 + 1 705 c.705G>T c.(703-705)aaG>aaT p.K235N MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K235N(1) breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AGAGGCTTAAGGCCCTAAATA 0.478000 35 124 9.78485e-24 1.59648e-23 0.013726 1 0 PCDHB10 56126 broad.mit.edu 37 5 140573077 140573077 + Missense_Mutation SNP A A T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr5:140573077A>T ENST00000239446.4 + 1 1136 c.952A>T c.(952-954)Aat>Tat p.N318Y NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 318 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.N318Y(1) breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTACAAAATAAATATACAGGC 0.378000 7 156 0 0 0.038147 0 0 NPIPB6 728741 broad.mit.edu 37 16 28354495 28354495 + Silent SNP T T C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr16:28354495T>C ENST00000532254.1 - 7 1396 c.711A>G c.(709-711)gcA>gcG p.A237A NPIPB6_ENST00000533640.1_Silent_p.A219A nuclear pore complex interacting protein family, member B6 p.A237A(2) GATGCTCCGCTGCCACCATTC 0.493000 5 73 0 0 0.014758 0 0 TTC6 319089 broad.mit.edu 37 14 38266096 38266096 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr14:38266096G>A ENST00000553443.1 + 20 3973 c.3973G>A c.(3973-3975)Gag>Aag p.E1325K TTC6_ENST00000476979.1_Missense_Mutation_p.E56K|TTC6_ENST00000267368.7_Missense_Mutation_p.E56K|TTC6_ENST00000554555.1_3'UTR|TTC6_ENST00000382320.3_Missense_Mutation_p.E39K tetratricopeptide repeat domain 6 p.E1325K(1)|p.E56K(1) central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 14 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176) GBM - Glioblastoma multiforme(112;0.00551) GAATAGAGCTGAGATGACCAT 0.408000 10 129 0 0 0.008291 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871354 51871354 + Missense_Mutation SNP T T A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr20:51871354T>A ENST00000371497.5 + 2 2244 c.1357T>A c.(1357-1359)Tgt>Agt p.C453S TSHZ2_ENST00000329613.6_Missense_Mutation_p.C450S|TSHZ2_ENST00000603338.2_Missense_Mutation_p.C450S NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 453 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.C453S(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) AGCATCAGATTGTACAGCCTC 0.458000 31 94 0 0 0.037714 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369625 86369625 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr13:86369625G>T ENST00000400286.2 - 2 1617 c.1019C>A c.(1018-1020)cCa>cAa p.P340Q NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 340 LRRNT 2. integral to membrane p.P340K(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) AAGTCCTGATGGGGATAGGAC 0.448000 35 75 7.61165e-28 1.25846e-27 0.017118 1 0 AGTR2 186 broad.mit.edu 37 X 115304043 115304043 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:115304043G>A ENST00000371906.4 + 3 700 c.510G>A c.(508-510)atG>atA p.M170I NM_000686.4 NP_000677.2 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 170 behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity p.M170I(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 TTTGGTGTATGGCCTGTTTGT 0.418000 17 280 0 0 0.038395 0 0 TMEM257 9142 broad.mit.edu 37 X 144909297 144909297 + Silent SNP A A G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:144909297A>G ENST00000408967.2 + 1 370 c.102A>G c.(100-102)ctA>ctG p.L34L NM_004709.2 NP_004700.1 transmembrane protein 257 p.L34L(1) TTAACTCACTAGCATCCCCAC 0.279000 31 83 0 0 0.034045 0 0 CNTN2 6900 broad.mit.edu 37 1 205035635 205035635 + Nonsense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:205035635G>A ENST00000331830.4 + 15 2167 c.1883G>A c.(1882-1884)tGg>tAg p.W628* NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 628 Fibronectin type-III 1. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding p.W628*(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CAGCTCAGCTGGAGCCGTGGC 0.607000 19 30 0 0 0.008871 0 0 RAB3B 5865 broad.mit.edu 37 1 52442781 52442781 + Silent SNP T T C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:52442781T>C ENST00000371655.3 - 2 221 c.9A>G c.(7-9)tcA>tcG p.S3S NM_002867.3 NP_002858.2 P20337 RAB3B_HUMAN RAB3B, member RAS oncogene family 3 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity p.S3S(1) large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 CATCTGTCACTGAAGCCATCT 0.468000 22 58 0 0 0.012319 0 0 ZNF813 126017 broad.mit.edu 37 19 53995018 53995018 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:53995018C>T ENST00000396403.4 + 4 1660 c.1532C>T c.(1531-1533)gCa>gTa p.A511V ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 511 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A511V(1) large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) ACACACCTTGCATGTCATCAT 0.388000 3 37 0 0 0.004672 0 0 SRPRB 58477 broad.mit.edu 37 3 133525539 133525539 + Missense_Mutation SNP T T G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:133525539T>G ENST00000466490.2 + 3 526 c.241T>G c.(241-243)Ttt>Gtt p.F81V NM_021203.3 NP_067026.3 Q9Y5M8 SRPRB_HUMAN signal recognition particle receptor, B subunit 81 endoplasmic reticulum membrane|integral to membrane GTP binding|protein binding|receptor activity p.F81V(1) breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2) 12 AACGTTGCTCTTTGTCAGGGT 0.403000 5 75 0 0 0.021553 0 0 CDH12 1010 broad.mit.edu 37 5 21975427 21975427 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr5:21975427G>A ENST00000382254.1 - 6 1385 c.299C>T c.(298-300)aCc>aTc p.T100I CDH12_ENST00000522262.1_Missense_Mutation_p.T100I|CDH12_ENST00000504376.2_Missense_Mutation_p.T100I NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 100 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T100I(1) NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 GGTAAAAACGGTGCCAGCGCC 0.493000 HNSCC(59;0.17) 44 112 0 0 0.014410 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28327084 28327084 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr21:28327084G>T ENST00000284987.5 - 2 1332 c.1211C>A c.(1210-1212)gCa>gAa p.A404E NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 404 Peptidase M12B. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding p.A404E(1)|p.A404V(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 AGTGAAGGCTGCGTGGAGGCC 0.502000 12 59 6.72482e-11 9.31707e-11 0.024245 1 0 HCLS1 3059 broad.mit.edu 37 3 121356023 121356023 + Missense_Mutation SNP C C G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:121356023C>G ENST00000314583.3 - 7 626 c.535G>C c.(535-537)Gga>Cga p.G179R HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Intron NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 179 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity p.G179R(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) TCCGTCTCTCCCTTGTAGTCA 0.542000 18 33 0 0 0.008871 0 0 TEX37 200523 broad.mit.edu 37 2 88828809 88828809 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr2:88828809G>T ENST00000303254.3 + 4 502 c.360G>T c.(358-360)caG>caT p.Q120H NM_152670.2 NP_689883.1 testis expressed 37 p.Q120H(1) ACCTGGCCCAGGGTGACCCCA 0.592000 23 64 6.44725e-10 8.6428e-10 0.014323 1 0 OR11H12 440153 broad.mit.edu 37 14 19377684 19377684 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr14:19377684G>T ENST00000550708.1 + 1 163 c.91G>T c.(91-93)Ggt>Tgt p.G31C NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G31C(1) NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TATACTCCAAGGTTTCACTTG 0.413000 21 148 7.45023e-12 1.06187e-11 0.010504 1 0 CASS4 57091 broad.mit.edu 37 20 55012553 55012553 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr20:55012553C>A ENST00000371336.3 + 2 571 c.370C>A c.(370-372)Cag>Aag p.Q124K CASS4_ENST00000360314.3_Missense_Mutation_p.Q124K|CASS4_ENST00000434344.1_Missense_Mutation_p.Q124K NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 124 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity p.Q124K(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 GGAGGGGCCCCAGCCCCCTAC 0.582000 23 90 5.35356e-11 7.50103e-11 0.016522 1 0 S100A13 6284 broad.mit.edu 37 1 153591462 153591462 + Missense_Mutation SNP G G C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:153591462G>C ENST00000368699.1 - 5 709 c.206C>G c.(205-207)tCg>tGg p.S69W S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000339556.4_Missense_Mutation_p.S69W|S100A13_ENST00000440685.2_Missense_Mutation_p.S69W|S100A13_ENST00000392622.1_Missense_Mutation_p.S69W|S100A13_ENST00000392623.1_Missense_Mutation_p.S69W NM_001024210.1 NP_001019381.1 Q99584 S10AD_HUMAN S100 calcium binding protein A13 69 interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|extracellular space|nucleus|perinuclear region of cytoplasm calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding p.S69W(1) breast(1)|endometrium(1)|large_intestine(1)|lung(4) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) Amlexanox(DB01025) CTTGAGCTCCGAGTCCTGATT 0.483000 15 407 0 0 0.043863 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125530567 125530567 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr2:125530567C>A ENST00000431078.1 + 17 3086 c.2722C>A c.(2722-2724)Ctg>Atg p.L908M NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 908 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding p.L908M(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CCATTTTCGACTGCAGCTGAA 0.532000 38 81 3.09479e-21 4.95166e-21 0.027894 1 0 ZNF551 90233 broad.mit.edu 37 19 58196753 58196753 + Splice_Site SNP G G T rs142211450 by1000genomes TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:58196753G>T ENST00000282296.5 + 2 390 c.205_splice c.e2+1 p.G69_splice AC003006.7_ENST00000596085.1_Splice_Site_p.D53_splice|ZNF551_ENST00000356715.4_Splice_Site_p.G53_splice|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000599402.1_Intron NM_001270938.1 NP_001257867.1 Q7Z340 ZN551_HUMAN zinc finger protein 551 69 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G53C(1) endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AACATCCCTGGGTAAGGCCCT 0.478000 22 175 6.32553e-13 9.12053e-13 0.024334 1 0 NCKAP5 344148 broad.mit.edu 37 2 133543111 133543111 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr2:133543111C>T ENST00000409261.1 - 14 1646 c.1273G>A c.(1273-1275)Ggt>Agt p.G425S NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G425S NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 425 protein binding p.G425S(1) 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 TCTTTATAACCCCATTTGGTT 0.438000 5 81 0 0 0.021553 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222229 140222229 + Silent SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr5:140222229G>A ENST00000531613.1 + 1 1323 c.1323G>A c.(1321-1323)ttG>ttA p.L441L PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.L441L NM_018911.2 NP_061734.1 p.L441F(2)|p.L441L(2) NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCCAGCTTGTCTGTGGAGG 0.662000 6 89 0 0 0.029380 0 0 BACH2 60468 broad.mit.edu 37 6 90660894 90660894 + Missense_Mutation SNP G G A rs148083597 byFrequency TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:90660894G>A ENST00000257749.4 - 7 1638 c.931C>T c.(931-933)Cgg>Tgg p.R311W RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.R311W|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.R311W NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 311 nucleus protein dimerization activity|sequence-specific DNA binding p.R311W(2) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) GGCTGTTTCCGGTCCATCTCG 0.647000 6 36 0 0 0.021553 0 0 SDK1 221935 broad.mit.edu 37 7 3991446 3991446 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:3991446C>T ENST00000404826.2 + 7 1183 c.1044C>T c.(1042-1044)acC>acT p.T348T SDK1_ENST00000389531.3_Silent_p.T348T NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 348 Ig-like C2-type 3. cell adhesion integral to membrane p.T348T(1) NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GACGCCTCACCATCAGCAACC 0.617000 8 97 0 0 0.038147 0 0 LUM 4060 broad.mit.edu 37 12 91502379 91502379 + Missense_Mutation SNP G G C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr12:91502379G>C ENST00000266718.4 - 2 832 c.378C>G c.(376-378)aaC>aaG p.N126K LUM_ENST00000548071.1_Intron NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican 126 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent p.N126K(1) central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 CTGTCAGGTTGTTGTGGTTTA 0.418000 20 74 0 0 0.010504 0 0 RSBN1 54665 broad.mit.edu 37 1 114308968 114308986 + Frame_Shift_Del DEL ATTTCTAGGGATGAAGTAG ATTTCTAGGGATGAAGTAG - TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:114308968_114308986delATTTCTAGGGATGAAGTAG ENST00000261441.5 - 7 2088_2106 c.2025_2043delCTACTTCATCCCTAGAAAT c.(2023-2043)atfs p.IYFIPRN675fs RSBN1_ENST00000369581.2_5'UTR NM_018364.3 NP_060834.2 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 675 nucleus p.F677F(1) breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GATGAATGACATTTCTAGGGATGAAGTAGATATCATTGT 0.438 37 137 --- --- --- --- STXBP5L 9515 broad.mit.edu 37 3 120998798 120998798 + Frame_Shift_Del DEL T T - TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:120998798delT ENST00000273666.6 + 19 2376 c.2105delT c.(2104-2106)atfs p.I702fs STXBP5L_ENST00000472879.1_Frame_Shift_Del_p.I702fs|STXBP5L_ENST00000497029.1_Frame_Shift_Del_p.I702fs|STXBP5L_ENST00000471454.1_Frame_Shift_Del_p.I702fs|STXBP5L_ENST00000492541.1_Frame_Shift_Del_p.I702fs NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 702 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AAACAGTTCATTGCAGGTAGG 0.368 15 55 --- --- --- --- LTBP2 4053 broad.mit.edu 37 14 74989609 74989610 + Frame_Shift_Ins INS - - TT TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr14:74989609_74989610insTT ENST00000261978.4 - 16 2928_2929 c.2542_2543insAA c.(2542-2544)cgcfs p.R848fs LTBP2_ENST00000556690.1_Frame_Shift_Ins_p.R848fs NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 848 EGF-like 4. protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TCCAGCAGCGCATCTGTCAATG 0.619 7 19 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102292971 102292974 + RNA DEL CTCA CTCA - rs75843814 TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr15:102292971_102292974delCTCA ENST00000561463.1 + 0 1017_1020 GATGCTGCTTCTCAGAGCTGCTGT 0.583 2 4 --- --- --- --- LA16c-306E5.3 0 broad.mit.edu 37 16 3546141 3546141 + RNA DEL A A - rs74546027 TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr16:3546141delA ENST00000574423.2 + 0 111 actccgtctcaaaaaaaaaaa 0.557 2 4 --- --- --- --- KRT13 3860 broad.mit.edu 37 17 39658805 39658806 + Frame_Shift_Ins INS - - A rs148296285 byFrequency TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr17:39658805_39658806insA ENST00000246635.3 - 6 1110_1111 c.1064_1065insT c.(1063-1065)ctafs p.L355fs KRT13_ENST00000587544.1_Frame_Shift_Ins_p.L355fs|KRT13_ENST00000336861.3_Frame_Shift_Ins_p.L355fs NM_153490.2 NP_705694.2 P13646 K1C13_HUMAN keratin 13 355 Coil 2.|Rod. epidermis development intermediate filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 33 Breast(137;0.000286) GCAGGGCATAGCGGCACTCCGT 0.599 11 107 --- --- --- --- GATAD2A 54815 broad.mit.edu 37 19 19612093 19612093 + Frame_Shift_Del DEL C C - TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:19612093delC ENST00000404158.1 + 11 1789 c.1371delC c.(1369-1371)agfs p.S457fs GATAD2A_ENST00000429563.2_Frame_Shift_Del_p.S284fs|GATAD2A_ENST00000358713.3_Frame_Shift_Del_p.S456fs|GATAD2A_ENST00000252577.5_Frame_Shift_Del_p.S456fs|GATAD2A_ENST00000537887.1_Frame_Shift_Del_p.S85fs|GATAD2A_ENST00000360315.3_Frame_Shift_Del_p.S456fs Q86YP4 P66A_HUMAN GATA zinc finger domain containing 2A 456 DNA methylation|negative regulation of transcription, DNA-dependent nuclear speck|NuRD complex protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 AGCACACCAGCCGGCTGAAGG 0.637 7 31 --- --- --- --- BMX 660 broad.mit.edu 37 X 15544216 15544219 + Splice_Site DEL TGAG TGAG - TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:15544216_15544219delTGAG ENST00000357607.2 + 9 1070_1072 c.884_splice c.e9+1 p.*294_splice BMX_ENST00000348343.6_Splice_Site_p.*294_splice|BMX_ENST00000342014.6_Splice_Site_p.*294_splice P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 294 cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) TGGATGATTATGAGTGAGTATTGA 0.387 10 131 --- --- --- ---