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 RP1L1 94137 broad.mit.edu 37 8 10469061 10469061 + Silent SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:10469061A>G ENST00000382483.3 - 4 2770 c.2547T>C c.(2545-2547)tgT>tgC p.C849C NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 849 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) AGTACCTGCCACACAGCCAGC 0.736000 5 2 0 0 0.000602 0 0 POU4F1 5457 broad.mit.edu 37 13 79177376 79177376 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr13:79177376G>A ENST00000377208.5 - 1 297 c.86C>T c.(85-87)tCc>tTc p.S29F RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606376.1_RNA NM_006237.3 NP_006228.3 Q01851 PO4F1_HUMAN POU class 4 homeobox 1 29 axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1) 16 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) GATGGCCTCGGAGCTGGAGTG 0.711000 14 14 0 0 0.003163 0 0 MAF1 84232 broad.mit.edu 37 8 145161324 145161324 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:145161324G>T ENST00000534585.1 + 5 848 c.457G>T c.(457-459)Gcg>Tcg p.A153S MAF1_ENST00000322428.5_Missense_Mutation_p.A153S|MAF1_ENST00000532522.1_Missense_Mutation_p.A153S Q9H063 MAF1_HUMAN MAF1 homolog (S. cerevisiae) 153 negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent cytoplasm|nucleus central_nervous_system(1)|lung(8)|urinary_tract(1) 10 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCTGTGGAACGCGGTGGACGA 0.592000 20 30 1.15919e-05 1.62451e-05 0.008871 1 0 SLC17A7 57030 broad.mit.edu 37 19 49933857 49933857 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:49933857G>T ENST00000221485.3 - 12 1773 c.1602C>A c.(1600-1602)ccC>ccA p.P534P SLC17A7_ENST00000600601.1_Silent_p.P467P|SLC17A7_ENST00000543531.1_Silent_p.P522P NM_020309.3 NP_064705.1 Q9P2U7 VGLU1_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 7 534 Pro-rich. glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) GGGGTGCAGGGGGTGCCCCCG 0.652000 10 20 1.08611e-07 1.63081e-07 0.000978 1 0 SCG3 29106 broad.mit.edu 37 15 51975582 51975582 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr15:51975582G>T ENST00000220478.3 + 4 751 c.348G>T c.(346-348)ctG>ctT p.L116L SCG3_ENST00000542355.2_5'UTR NM_013243.3 NP_037375.2 Q8WXD2 SCG3_HUMAN secretogranin III 116 platelet activation|platelet degranulation extracellular region|stored secretory granule breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) ATCGAAAACTGATCGATGATT 0.323000 5 52 0.000602214 0.000796503 0.000602 1 0 MDGA2 161357 broad.mit.edu 37 14 47504236 47504236 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:47504236G>T ENST00000426342.1 - 8 1649 c.903C>A c.(901-903)gcC>gcA p.A301A MDGA2_ENST00000357362.3_Silent_p.A301A|MDGA2_ENST00000439988.2_Silent_p.A530A|MDGA2_ENST00000399232.2_Silent_p.A599A NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 530 Ig-like 3. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 GCTGCACCAAGGCTTCCCTTG 0.398000 12 116 1.3612e-06 1.97484e-06 0.003163 1 0 GALNT18 374378 broad.mit.edu 37 11 11292739 11292739 + Silent SNP C C G rs140917604 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:11292739C>G ENST00000227756.4 - 11 2187 c.1776G>C c.(1774-1776)tcG>tcC p.S592S NM_198516.2 NP_940918.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18 AGTGCTGGCCCGAGCACTTCT 0.617000 37 26 0 0 0.005524 0 0 PHC3 80012 broad.mit.edu 37 3 169846735 169846735 + Missense_Mutation SNP T T C rs113283659 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:169846735T>C ENST00000494943.1 - 8 1557 c.1489A>G c.(1489-1491)Atc>Gtc p.I497V PHC3_ENST00000467570.1_Missense_Mutation_p.I456V|PHC3_ENST00000495893.1_Missense_Mutation_p.I509V Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 497 Gln-rich.|Pro-rich. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GCAATTGGGATTGGAGAGGAC 0.512000 3 57 0 0 0.004672 0 0 IL7R 3575 broad.mit.edu 37 5 35867563 35867563 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:35867563T>C ENST00000303115.3 + 3 506 c.377T>C c.(376-378)aTa>aCa p.I126T IL7R_ENST00000511982.1_Missense_Mutation_p.I126T|IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000506850.1_Missense_Mutation_p.I126T|IL7R_ENST00000343305.4_Missense_Mutation_p.I126T NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 126 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) CTAACCACTATAGGTAAGAAG 0.353000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 39 72 0 0 0.006999 0 0 MGAT5B 146664 broad.mit.edu 37 17 74901391 74901391 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:74901391G>T ENST00000569840.2 + 7 1405 c.831G>T c.(829-831)ggG>ggT p.G277G MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_Silent_p.G277G|MGAT5B_ENST00000428789.2_Silent_p.G288G NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 277 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGAAGCTGGGGGCCACCCAGA 0.647000 20 7 3.5997e-14 6.33958e-14 0.002299 1 0 RPF1 80135 broad.mit.edu 37 1 84961575 84961575 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:84961575A>G ENST00000370654.5 + 7 725 c.710A>G c.(709-711)aAg>aGg p.K237R NM_025065.6 NP_079341.2 Q9H9Y2 RPF1_HUMAN ribosome production factor 1 homolog (S. cerevisiae) 237 Brix. rRNA processing|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|rRNA binding breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1) 14 AGAAGAGGCAAGGACCCCACA 0.348000 13 20 0 0 0.003163 0 0 AMICA1 120425 broad.mit.edu 37 11 118081387 118081387 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:118081387G>A ENST00000292067.7 - 3 650 c.209C>T c.(208-210)cCt>cTt p.P70L AMICA1_ENST00000533261.1_Missense_Mutation_p.P80L|AMICA1_ENST00000356289.5_Missense_Mutation_p.P80L|AMICA1_ENST00000526620.1_Missense_Mutation_p.P41L NM_153206.2 NP_694938.2 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 1 80 Ig-like V-type 1. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2) 20 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) GCGCCCAATAGGCACACTGAG 0.507000 64 48 0 0 0.003610 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40838982 40838982 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:40838982G>A ENST00000264638.4 + 7 1179 c.962G>A c.(961-963)cGc>cAc p.R321H CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 321 Laminin G-like 1. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) CATAACTTCCGCGGCTGCATA 0.632000 26 13 0 0 0.004656 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98376423 98376423 + Nonsense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:98376423C>A ENST00000339364.5 - 13 2106 c.1987G>T c.(1987-1989)Gag>Tag p.E663* PIK3AP1_ENST00000371110.2_Nonsense_Mutation_p.E485*|PIK3AP1_ENST00000371109.3_Nonsense_Mutation_p.E262* NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 663 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) TTTTGCTTCTCTCTCTGTCTT 0.433000 32 45 8.73648e-17 1.63169e-16 0.004289 1 0 KCND3 3752 broad.mit.edu 37 1 112524607 112524607 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:112524607C>G ENST00000369697.1 - 1 811 c.742G>C c.(742-744)Gct>Cct p.A248P KCND3_ENST00000315987.2_Missense_Mutation_p.A248P|KCND3_ENST00000302127.4_Missense_Mutation_p.A248P Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 248 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) CGGCTGGGAGCCGCGAAGAGC 0.622000 22 35 0 0 0.002299 0 0 SLC12A5 57468 broad.mit.edu 37 20 44674636 44674636 + Splice_Site SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:44674636G>A ENST00000454036.1 + 13 1833 c.e13+1 SLC12A5_ENST00000539566.1_Splice_Site|SLC12A5_ENST00000243964.3_Splice_Site NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity 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) TCCTCTCTATGTGCGTGCCTG 0.582000 80 181 0 0 0.003610 0 0 TLR8 51311 broad.mit.edu 37 X 12938504 12938504 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:12938504C>A ENST00000218032.6 + 2 1432 c.1345C>A c.(1345-1347)Cgt>Agt p.R449S TLR8_ENST00000311912.5_Missense_Mutation_p.R467S NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 449 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CTCTTTTCAACGTCATATCCG 0.378000 63 9 8.52622e-23 1.72976e-22 0.003610 1 0 PTPRT 11122 broad.mit.edu 37 20 40714398 40714398 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:40714398G>A ENST00000373198.3 - 29 4243 c.4008C>T c.(4006-4008)caC>caT p.H1336H PTPRT_ENST00000373187.1_Silent_p.H1314H|PTPRT_ENST00000373193.3_Silent_p.H1317H|PTPRT_ENST00000373190.1_Silent_p.H1313H|PTPRT_ENST00000373201.1_Silent_p.H1304H|PTPRT_ENST00000373184.1_Silent_p.H1324H|PTPRT_ENST00000356100.2_Silent_p.H1323H NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1314 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGAATATTCTGTGGATGATGT 0.577000 56 58 0 0 0.003610 0 0 STXBP5L 9515 broad.mit.edu 37 3 120871407 120871407 + Splice_Site SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:120871407G>T ENST00000273666.6 + 8 1024 c.753_splice c.e8+1 p.E251_splice STXBP5L_ENST00000472879.1_Splice_Site_p.E251_splice|STXBP5L_ENST00000497029.1_Splice_Site_p.E251_splice|STXBP5L_ENST00000471454.1_Splice_Site_p.E251_splice|STXBP5L_ENST00000492541.1_Splice_Site_p.E251_splice NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 251 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) ATTATGATGAGGTAAGTGATT 0.353000 40 7 1.22674e-20 2.45349e-20 0.008740 1 0 OR5F1 338674 broad.mit.edu 37 11 55761953 55761953 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:55761953C>T ENST00000278409.1 - 1 148 c.149G>A c.(148-150)aGg>aAg p.R50K NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) GGAATCGATCCTGATTAAGAG 0.433000 12 47 0 0 0.001368 0 0 ATR 545 broad.mit.edu 37 3 142272147 142272147 + Silent SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:142272147T>C ENST00000350721.4 - 13 2848 c.2727A>G c.(2725-2727)acA>acG p.T909T ATR_ENST00000383101.3_Silent_p.T845T NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 909 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 CTCTAATTTCTGTGTATGCTG 0.413000 Other conserved DNA damage response genes 115 14 0 0 0.003610 0 0 DNAH17 8632 broad.mit.edu 37 17 76568965 76568965 + Silent SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:76568965A>G ENST00000389840.5 - 3 481 c.357T>C c.(355-357)tcT>tcC p.S119S DNAH17_ENST00000585328.1_Silent_p.S119S dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GGTTTAACAGAGAAGAGAGGA 0.542000 7 12 0 0 0.004482 0 0 SLC6A11 6538 broad.mit.edu 37 3 10916777 10916777 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:10916777C>A ENST00000254488.2 + 6 954 c.888C>A c.(886-888)ccC>ccA p.P296P NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 296 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) TCTCCGACCCCCAGGTAAGAG 0.592000 29 9 7.26314e-15 1.3e-14 0.007291 1 0 PRR5L 79899 broad.mit.edu 37 11 36484178 36484178 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:36484178C>G ENST00000378867.3 + 10 1354 c.999C>G c.(997-999)caC>caG p.H333Q PRR5L_ENST00000530639.1_Missense_Mutation_p.H333Q|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Missense_Mutation_p.H260Q NM_024841.4 NP_079117.3 Q6MZQ0 PRR5L_HUMAN proline rich 5 like 333 breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1) 19 CCCCGCCCCACCGGCAGTGCT 0.672000 26 15 0 0 0.003954 0 0 DUSP27 92235 broad.mit.edu 37 1 167097711 167097711 + Nonsense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:167097711G>T ENST00000361200.2 + 6 3509 c.3343G>T c.(3343-3345)Gga>Tga p.G1115* DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Nonsense_Mutation_p.G1115*|DUSP27_ENST00000443333.1_Nonsense_Mutation_p.G1115* Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 1115 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GTTTGCATCTGGACGGCGGTC 0.507000 19 22 1.96292e-10 3.18451e-10 0.001523 1 0 CD22 933 broad.mit.edu 37 19 35831821 35831821 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:35831821C>T ENST00000085219.5 + 7 1353 c.1287C>T c.(1285-1287)ccC>ccT p.P429P CD22_ENST00000270311.6_Silent_p.P309P|CD22_ENST00000544992.2_Silent_p.P429P|CD22_ENST00000536635.2_Silent_p.P341P|CD22_ENST00000419549.2_Silent_p.P257P|CD22_ENST00000341773.6_Silent_p.P252P|CD22_ENST00000594250.1_Silent_p.P252P NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 429 Ig-like C2-type 4. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) TTCAAAACCCCATGCCGATTC 0.512000 9 23 0 0 0.008291 0 0 OR6A2 8590 broad.mit.edu 37 11 6816722 6816722 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:6816722C>A ENST00000332601.3 - 1 406 c.218G>T c.(217-219)tGg>tTg p.W73L NM_003696.2 NP_003687.2 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, member 2 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 29 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AGTGACATACCAGATCTCCAG 0.438000 19 60 2.54575e-18 4.92211e-18 0.001523 1 0 PDGFRA 5156 broad.mit.edu 37 4 55140718 55140718 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:55140718G>T ENST00000257290.5 + 11 1910 c.1579G>T c.(1579-1581)Gtg>Ttg p.V527L FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 527 cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.V527M(1) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TGAACTCACGGTGGCTGCTGC 0.478000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 53 10 1.0442e-30 2.28245e-30 0.003610 1 0 SLC39A12 221074 broad.mit.edu 37 10 18270281 18270281 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:18270281A>G ENST00000377369.2 + 6 1238 c.965A>G c.(964-966)cAg>cGg p.Q322R SLC39A12_ENST00000539911.1_Missense_Mutation_p.Q188R|SLC39A12_ENST00000377374.4_Missense_Mutation_p.Q322R|SLC39A12_ENST00000377371.3_Missense_Mutation_p.Q322R NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 322 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 ATATTTCTACAGAAGGGCCTC 0.458000 16 40 0 0 0.004990 0 0 CCL7 6354 broad.mit.edu 37 17 32597371 32597371 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:32597371G>T ENST00000378569.2 + 1 132 c.62G>T c.(61-63)gGg>gTg p.G21V CCL7_ENST00000394630.3_Missense_Mutation_p.G21V|CCL7_ENST00000394627.1_Missense_Mutation_p.G21V|CCL7_ENST00000200307.4_Missense_Mutation_p.G31V NM_006273.2 NP_006264.2 P80098 CCL7_HUMAN chemokine (C-C motif) ligand 7 21 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 Breast(3;0.00224) Breast(31;0.151)|Ovarian(249;0.17) BRCA - Breast invasive adenocarcinoma(366;0.155) AGCCCCCAGGGGCTTGCTCAG 0.557000 9 18 0.000442599 0.000590132 0.006214 1 0 RBM12B 389677 broad.mit.edu 37 8 94747176 94747176 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:94747176G>A ENST00000399300.2 - 3 1676 c.1463C>T c.(1462-1464)tCt>tTt p.S488F RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.S488F NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 488 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) GGACATCACAGAAAAATTTAC 0.408000 16 280 0 0 0.004990 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167441 140167441 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:140167441C>A ENST00000504120.2 + 1 1566 c.1566C>A c.(1564-1566)ccC>ccA p.P522P PCDHA1_ENST00000394633.3_Silent_p.P522P|PCDHA1_ENST00000378133.3_Silent_p.P522P NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACTGCAGCCCCTGGACCACG 0.677000 88 22 3.07327e-39 6.9324e-39 0.003610 1 0 MR1 3140 broad.mit.edu 37 1 181021464 181021464 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:181021464A>G ENST00000367580.5 + 4 703 c.698A>G c.(697-699)tAc>tGc p.Y233C MR1_ENST00000282990.6_Intron|MR1_ENST00000434571.2_Intron|MR1_ENST00000438435.2_Intron|MR1_ENST00000367579.3_Missense_Mutation_p.Y188C NM_001531.2 NP_001522.1 Q95460 HMR1_HUMAN major histocompatibility complex, class I-related 233 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|immune response endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex MHC class I receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 18 CCAGAAATTTACATGACATGG 0.453000 37 34 0 0 0.004289 0 0 DNAH8 1769 broad.mit.edu 37 6 38810560 38810560 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:38810560C>A ENST00000359357.3 + 33 4329 c.4075C>A c.(4075-4077)Cag>Aag p.Q1359K DNAH8_ENST00000441566.1_Missense_Mutation_p.Q1359K|DNAH8_ENST00000449981.2_Missense_Mutation_p.Q1576K dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GGCCATGAAACAGAGACACTG 0.388000 81 23 1.52589e-26 3.23516e-26 0.003610 1 0 SERPINE2 5270 broad.mit.edu 37 2 224862898 224862898 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:224862898C>A ENST00000409840.3 - 4 1081 c.421G>T c.(421-423)Gtg>Ttg p.V141L SERPINE2_ENST00000447280.2_Missense_Mutation_p.V153L|SERPINE2_ENST00000258405.4_Missense_Mutation_p.V141L|SERPINE2_ENST00000409304.1_Missense_Mutation_p.V141L P07093 GDN_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 141 negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule heparin binding|receptor binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 17 Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797) Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902) TCAAAGTTCACATTCCGGACC 0.453000 8 37 3.09899e-07 4.59729e-07 0.004482 1 0 ST8SIA5 29906 broad.mit.edu 37 18 44260249 44260249 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:44260249G>T ENST00000315087.7 - 7 1547 c.887C>A c.(886-888)gCc>gAc p.A296D ST8SIA5_ENST00000538168.1_Missense_Mutation_p.A332D|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.A265D|ST8SIA5_ENST00000590497.1_5'UTR NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 296 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 GATGCGCTTGGCGCGCACCCC 0.622000 5 20 2.0095e-06 2.87737e-06 0.001984 1 0 HIVEP1 3096 broad.mit.edu 37 6 12163750 12163750 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:12163750C>T ENST00000379388.2 + 9 7545 c.7213C>T c.(7213-7215)Cat>Tat p.H2405Y HIVEP1_ENST00000541134.1_Missense_Mutation_p.H270Y NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 2405 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TGGGGGGATCCATGTGGTACC 0.527000 133 15 0 0 0.003610 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522811 95522811 + RNA SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:95522811T>C ENST00000432432.2 - 0 216 NR_040113.1 GTGGATCTTCTGCAATTCGGA 0.657000 37 21 0 0 0.006230 0 0 APBA2 321 broad.mit.edu 37 15 29386483 29386483 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr15:29386483G>T ENST00000558402.1 + 9 1817 c.1218G>T c.(1216-1218)agG>agT p.R406S APBA2_ENST00000411764.1_Intron|APBA2_ENST00000558330.1_Intron|APBA2_ENST00000558259.1_Missense_Mutation_p.R406S|APBA2_ENST00000561069.1_Missense_Mutation_p.R406S Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 406 PID. nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GCTGTCAGAGGATGCAAAAGG 0.507000 24 81 1.33986e-20 2.67431e-20 0.004656 1 0 HEPH 9843 broad.mit.edu 37 X 65479949 65479949 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:65479949A>G ENST00000519389.1 + 19 3385 c.3206A>G c.(3205-3207)gAg>gGg p.E1069G HEPH_ENST00000419594.1_Missense_Mutation_p.E826G|HEPH_ENST00000441993.2_Missense_Mutation_p.E1018G|HEPH_ENST00000336279.5_Missense_Mutation_p.E748G|HEPH_ENST00000343002.2_Missense_Mutation_p.E1015G|HEPH_ENST00000374727.3_Missense_Mutation_p.E1018G Q9BQS7 HEPH_HUMAN hephaestin 1015 Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 CAGAATGGCGAGAACTACCGG 0.488000 6 37 0 0 0.003080 0 0 FDPS 2224 broad.mit.edu 37 1 155287752 155287752 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:155287752G>A ENST00000356657.6 + 5 663 c.501G>A c.(499-501)gtG>gtA p.V167V RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA|FDPS_ENST00000447866.1_Silent_p.V101V|FDPS_ENST00000368356.4_Silent_p.V167V|RUSC1-AS1_ENST00000443642.1_RNA NM_001135821.1 NP_001129293.1 P14324 FPPS_HUMAN farnesyl diphosphate synthase 167 cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process cytosol|nucleus dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399) TCTTCCTGGTGGCAGATGACA 0.493000 7 61 0 0 0.003080 0 0 TAS2R42 353164 broad.mit.edu 37 12 11338969 11338969 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:11338969G>T ENST00000334266.1 - 1 574 c.575C>A c.(574-576)cCc>cAc p.P192H NM_181429.1 NP_852094.1 Q7RTR8 T2R42_HUMAN taste receptor, type 2, member 42 192 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(49;0.0455) CAGAGAAAAGGGGATAAAACT 0.348000 32 44 2.85442e-18 5.49739e-18 0.002096 1 0 ZNF536 9745 broad.mit.edu 37 19 31040383 31040383 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:31040383C>G ENST00000355537.3 + 4 4004 c.3857C>G c.(3856-3858)aCa>aGa p.T1286R NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1286 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GCAAGTAGCACAGCAAATTCT 0.488000 17 53 0 0 0.004990 0 0 MIR518B 574474 broad.mit.edu 37 19 54206003 54206003 + RNA SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:54206003C>A ENST00000385127.1 + 0 13 NR_030196.1 ATGCTGTGGCCCTCCAGAGGG 0.423000 7 28 1.06961e-07 1.60849e-07 0.003080 1 0 CCL20 6364 broad.mit.edu 37 2 228681074 228681074 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:228681074G>C ENST00000409189.3 + 3 310 c.240G>C c.(238-240)tgG>tgC p.W80C CCL20_ENST00000358813.4_Missense_Mutation_p.W81C|CCL20_ENST00000473642.1_3'UTR NM_001130046.1|NM_004591.2 NP_001123518.1|NP_004582.1 P78556 CCL20_HUMAN chemokine (C-C motif) ligand 20 81 cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction extracellular space chemokine activity cervix(1)|lung(2) 3 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115) AACAGACTTGGGTGAAATATA 0.398000 17 49 0 0 0.008871 0 0 RP1L1 94137 broad.mit.edu 37 8 10467877 10467877 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:10467877T>A ENST00000382483.3 - 4 3954 c.3731A>T c.(3730-3732)tAt>tTt p.Y1244F NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1244 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TGGGCTCTCATAAGTTCTTGA 0.562000 25 37 0 0 0.003330 0 0 CD5L 922 broad.mit.edu 37 1 157803090 157803090 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:157803090C>A ENST00000368174.4 - 5 1027 c.931G>T c.(931-933)Gat>Tat p.D311Y NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 311 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CGAACATTATCCAGCCAGATG 0.582000 48 58 4.64027e-19 9.04257e-19 0.003610 1 0 AKAP3 10566 broad.mit.edu 37 12 4736204 4736204 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:4736204C>A ENST00000545990.2 - 5 2388 c.1864G>T c.(1864-1866)Gtt>Ttt p.V622F AKAP3_ENST00000228850.1_Missense_Mutation_p.V622F NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 622 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 TCTTCCTTAACTGGCTGTTCC 0.502000 46 8 5.20006e-24 1.0659e-23 0.002852 1 0 CHAMP1 283489 broad.mit.edu 37 13 115091622 115091622 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr13:115091622C>T ENST00000361283.1 + 3 2614 c.2305C>T c.(2305-2307)Cgt>Tgt p.R769C NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 769 Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding TAAATGTCCACGTTGTAATTT 0.363000 28 22 0 0 0.004656 0 0 ACAD11 84129 broad.mit.edu 37 3 132360964 132360964 + Translation_Start_Site SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:132360964C>T ENST00000545291.1 - 0 703 ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000355458.3_Missense_Mutation_p.R130H|ACAD11_ENST00000481970.2_Missense_Mutation_p.R130H|ACAD11_ENST00000264990.6_Missense_Mutation_p.R130H acyl-CoA dehydrogenase family, member 11 breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 36 TGTTAAATCACGGAAGATTCG 0.363000 25 79 0 0 0.006320 0 0 GSDMC 56169 broad.mit.edu 37 8 130760847 130760847 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:130760847T>A ENST00000276708.4 - 14 2308 c.1427A>T c.(1426-1428)gAg>gTg p.E476V NM_031415.2 NP_113603.1 Q9BYG8 GSDMC_HUMAN gasdermin C 476 mitochondrion autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 26 GTTATCCAGCTCCATCCTAAG 0.577000 12 84 0 0 0.002450 0 0 NLRP10 338322 broad.mit.edu 37 11 7984990 7984990 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:7984990C>A ENST00000328600.2 - 1 214 c.53G>T c.(52-54)aGt>aTt p.S18I NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 18 DAPIN. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTCAAGGTCACTCAAGGCCCA 0.572000 18 47 5.3912e-06 7.65303e-06 0.006122 1 0 OR10J5 127385 broad.mit.edu 37 1 159505076 159505076 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:159505076A>T ENST00000334857.2 - 1 766 c.722T>A c.(721-723)gTc>gAc p.V241D NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) GAGGTGGGAGACACAGGTGGC 0.488000 29 51 0 0 0.007291 0 0 KCNH2 3757 broad.mit.edu 37 7 150648710 150648710 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:150648710C>G ENST00000392968.2 - 5 2603 c.1483G>C c.(1483-1485)Gac>Cac p.D495H KCNH2_ENST00000330883.4_Missense_Mutation_p.D251H|KCNH2_ENST00000262186.5_Missense_Mutation_p.D591H|KCNH2_ENST00000430723.3_Missense_Mutation_p.D591H Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 591 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) CCTATCTGGTCGCCCAGGTTG 0.612000 73 10 0 0 0.003610 0 0 HAO2 51179 broad.mit.edu 37 1 119927430 119927430 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:119927430C>A ENST00000361035.4 + 5 637 c.354C>A c.(352-354)acC>acA p.T118T HAO2_ENST00000325945.3_Silent_p.T105T NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 105 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) GCTACATCACCAGCACATTTG 0.547000 37 54 3.21399e-22 6.49371e-22 0.004878 1 0 IGLV8-61 28774 broad.mit.edu 37 22 22453406 22453406 + RNA SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr22:22453406G>A ENST00000390283.2 + 0 198 TTGAGCTCTGGCTCAGTCTCT 0.562000 16 41 0 0 0.006122 0 0 KDM6A 7403 broad.mit.edu 37 X 44966737 44966737 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:44966737G>T ENST00000377967.4 + 27 4002 c.3961G>T c.(3961-3963)Ggg>Tgg p.G1321W KDM6A_ENST00000382899.4_Missense_Mutation_p.G1328W|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000536777.1_Missense_Mutation_p.G1276W|KDM6A_ENST00000543216.1_Missense_Mutation_p.G1242W NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1321 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TATATGGCATGGGCGGACAAA 0.403000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 44 6 8.01111e-26 1.66983e-25 0.002522 1 0 LILRA2 11027 broad.mit.edu 37 19 55086271 55086271 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:55086271G>A ENST00000251377.3 + 5 559 c.426G>A c.(424-426)caG>caA p.Q142Q LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.Q142Q|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.Q130Q|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391738.3_Silent_p.Q142Q|LILRB1_ENST00000448689.1_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) TGACCCTCCAGTGTGTCTCAC 0.557000 42 56 0 0 0.008740 0 0 FBN2 2201 broad.mit.edu 37 5 127614379 127614379 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:127614379G>T ENST00000508053.1 - 63 8267 c.7293C>A c.(7291-7293)gcC>gcA p.A2431A FBN2_ENST00000262464.4_Silent_p.A2431A P35556 FBN2_HUMAN fibrillin 2 2431 TB 9. 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 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) TTTTGTACTGGGCAGTTCCAG 0.458000 45 20 1.63429e-32 3.61225e-32 0.003610 1 0 OTOA 146183 broad.mit.edu 37 16 21716560 21716560 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:21716560T>A ENST00000388958.3 + 11 1052 c.1051T>A c.(1051-1053)Tac>Aac p.Y351N OTOA_ENST00000286149.4_Missense_Mutation_p.Y365N|OTOA_ENST00000388956.4_Missense_Mutation_p.Y272N|OTOA_ENST00000569064.1_3'UTR|OTOA_ENST00000388957.3_Missense_Mutation_p.Y27N NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 365 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) AGTCCTGCTTTACCAGATGAT 0.572000 31 50 0 0 0.002096 0 0 RASEF 158158 broad.mit.edu 37 9 85615133 85615133 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:85615133G>A ENST00000376447.3 - 12 1934 c.1674C>T c.(1672-1674)ctC>ctT p.L558L NM_152573.2 NP_689786.2 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 558 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 AAAGTCTCATGAGGAAACTAG 0.443000 60 5 0 0 0.003610 0 0 DLC1 10395 broad.mit.edu 37 8 12957737 12957737 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:12957737C>A ENST00000276297.4 - 9 2518 c.2109G>T c.(2107-2109)atG>atT p.M703I DLC1_ENST00000512044.2_Missense_Mutation_p.M300I|DLC1_ENST00000358919.2_Missense_Mutation_p.M266I|DLC1_ENST00000520226.1_Missense_Mutation_p.M192I NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 703 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TCTCCTCATCCATCCCCTCTT 0.562000 22 32 1.87028e-06 2.69757e-06 0.001882 1 0 UVRAG 7405 broad.mit.edu 37 11 75562951 75562951 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:75562951C>T ENST00000356136.3 + 2 382 c.141C>T c.(139-141)aaC>aaT p.N47N UVRAG_ENST00000528420.1_5'UTR NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 47 C2. DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 ATCTTCGGAACATTGCTGCCC 0.373000 35 120 0 0 0.006230 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35916033 35916033 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:35916033C>T ENST00000325722.3 - 14 2374 c.2140G>A c.(2140-2142)Ggc>Agc p.G714S KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.G151S NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 714 PKD 5. cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GACTTAGAGCCATCCAGCTCT 0.488000 5 59 0 0 0.000602 0 0 DNAJC22 79962 broad.mit.edu 37 12 49743390 49743390 + Silent SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:49743390A>G ENST00000549441.2 + 3 1939 c.735A>G c.(733-735)ctA>ctG p.L245L DNAJC22_ENST00000395069.3_Silent_p.L245L Q8N4W6 DJC22_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 22 245 protein folding integral to membrane heat shock protein binding|unfolded protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1) 10 TCTGGAGGCTACTGATGGGGG 0.522000 68 100 0 0 0.003610 0 0 FASLG 356 broad.mit.edu 37 1 172635156 172635156 + Nonstop_Mutation SNP A A C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:172635156A>C ENST00000367721.2 + 4 1030 c.846A>C c.(844-846)taA>taC p.*282Y FASLG_ENST00000340030.3_3'UTR NM_000639.1 NP_000630.1 P48023 TNFL6_HUMAN Fas ligand (TNF superfamily, member 6) 0 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1) 19 ATAAGCTCTAAGAGAAGCACT 0.388000 12 56 0 0 0.001855 0 0 CACNA1C 775 broad.mit.edu 37 12 2602428 2602428 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:2602428C>T ENST00000399655.1 + 7 1254 c.989C>T c.(988-990)aCg>aTg p.T330M CACNA1C_ENST00000399621.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T330M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T330M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T330M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T330M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T330M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T330M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T330M NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 330 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CAGAACGGCACGGTGTGCAAG 0.587000 43 74 0 0 0.002222 0 0 DENND2A 27147 broad.mit.edu 37 7 140269479 140269479 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:140269479C>G ENST00000275884.6 - 6 1923 c.1506G>C c.(1504-1506)agG>agC p.R502S DENND2A_ENST00000537639.1_Missense_Mutation_p.R502S|DENND2A_ENST00000496613.1_Missense_Mutation_p.R502S|DENND2A_ENST00000492720.1_Missense_Mutation_p.R502S Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 502 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) ACTGGGACAGCCTCTTCACCC 0.537000 133 26 0 0 0.003610 0 0 ANK1 286 broad.mit.edu 37 8 41546073 41546073 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:41546073G>T ENST00000396942.1 - 34 4222 c.4139C>A c.(4138-4140)aCg>aAg p.T1380K ANK1_ENST00000265709.8_Missense_Mutation_p.T1421K|ANK1_ENST00000379758.2_Missense_Mutation_p.T1380K|ANK1_ENST00000396945.1_Missense_Mutation_p.T1380K|ANK1_ENST00000352337.4_Missense_Mutation_p.T1380K|ANK1_ENST00000347528.4_Missense_Mutation_p.T1380K|ANK1_ENST00000289734.7_Missense_Mutation_p.T1380K P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1380 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.T1380M(1) breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GGCCAGGGGCGTCGGGGTCCT 0.567000 21 45 2.39556e-15 4.35878e-15 0.002780 1 0 KIF2B 84643 broad.mit.edu 37 17 51900476 51900476 + Nonsense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:51900476G>T ENST00000268919.4 + 1 238 c.82G>T c.(82-84)Gag>Tag p.E28* NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 28 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 AGACATCCAAGAGGGCATCTA 0.557000 28 6 4.87955e-14 8.47276e-14 0.005443 1 0 ZNF470 388566 broad.mit.edu 37 19 57085817 57085817 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:57085817T>C ENST00000330619.8 + 4 801 c.115T>C c.(115-117)Tgg>Cgg p.W39R ZNF470_ENST00000391709.3_Missense_Mutation_p.W39R|ZNF470_ENST00000601902.1_Missense_Mutation_p.W39R NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 39 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) TGAATGGGAGTGGCTGAATCT 0.428000 45 53 0 0 0.002522 0 0 FAM217B 63939 broad.mit.edu 37 20 58519910 58519910 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:58519910G>T ENST00000358293.3 + 5 1327 c.912G>T c.(910-912)caG>caT p.Q304H FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Missense_Mutation_p.Q304H NM_001190826.1 NP_001177755.1 Q9NTX9 CT177_HUMAN family with sequence similarity 217, member B 304 CGAAGCTGCAGCGCTGGGATC 0.483000 25 53 9.86323e-18 1.86683e-17 0.003954 1 0 OR52R1 119695 broad.mit.edu 37 11 4825134 4825134 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:4825134C>A ENST00000380382.1 - 1 713 c.714G>T c.(712-714)gtG>gtT p.V238V OR52R1_ENST00000356069.2_Silent_p.V159V|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AGAAGGGGCTCACCCACAGCA 0.562000 49 37 3.21987e-24 6.61379e-24 0.003610 1 0 CYP11B2 1585 broad.mit.edu 37 8 143994079 143994079 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:143994079C>A ENST00000323110.2 - 8 1267 c.1265G>T c.(1264-1266)cGg>cTg p.R422L NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 422 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GGGATTATACCGCTCAGGCCT 0.622000 Familial Hyperaldosteronism type I 61 50 7.41606e-26 1.56561e-25 0.003610 1 0 NCS1 23413 broad.mit.edu 37 9 132988695 132988695 + Nonsense_Mutation SNP G G T rs11440892 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:132988695G>T ENST00000372398.3 + 7 588 c.502G>T c.(502-504)Gag>Tag p.E168* NCS1_ENST00000458469.1_Nonsense_Mutation_p.E150* NM_014286.3 NP_055101.2 P62166 NCS1_HUMAN neuronal calcium sensor 1 168 EF-hand 4. negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|protein binding large_intestine(1)|lung(4)|stomach(1) 6 GACCCTGCAGGAGTTCCAGGA 0.647000 12 24 1.3612e-06 1.97484e-06 0.003163 1 0 XKR9 389668 broad.mit.edu 37 8 71593465 71593465 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:71593465T>A ENST00000408926.3 + 3 706 c.172T>A c.(172-174)Ttt>Att p.F58I XKR9_ENST00000520030.1_Missense_Mutation_p.F58I|XKR9_ENST00000520273.1_Intron NM_001011720.1 NP_001011720.1 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related family, member 9 58 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) GGCTCAGTGTTTTAGTTATTC 0.378000 36 657 0 0 0.003755 0 0 MTA1 9112 broad.mit.edu 37 14 105929519 105929519 + Splice_Site SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:105929519A>G ENST00000331320.7 + 11 1156 c.e11-1 MTA1_ENST00000406191.1_Splice_Site|MTA1_ENST00000405646.1_Splice_Site NM_001203258.1|NM_004689.3 NP_001190187.1|NP_004680.2 Q13330 MTA1_HUMAN metastasis associated 1 signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1) 14 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) CCTCCCACCCAGCTCCCGTGG 0.647000 127 101 0 0 0.003610 0 0 TRPV4 59341 broad.mit.edu 37 12 110230574 110230574 + Silent SNP T T G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:110230574T>G ENST00000418703.2 - 10 1801 c.1707A>C c.(1705-1707)gcA>gcC p.A569A TRPV4_ENST00000346520.2_Silent_p.A509A|TRPV4_ENST00000544971.1_Silent_p.A462A|TRPV4_ENST00000541794.1_Silent_p.A522A|TRPV4_ENST00000537083.1_Silent_p.A509A|TRPV4_ENST00000536838.1_Silent_p.A535A|TRPV4_ENST00000261740.2_Silent_p.A569A|TRPV4_ENST00000392719.2_Silent_p.A522A NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 569 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 CCTCGATCCCTGCCAGGTAGA 0.587000 10 33 0 0 0.006214 0 0 RP11-909M7.3 0 broad.mit.edu 37 14 101452430 101452430 + RNA SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:101452430T>C ENST00000554693.2 + 0 972 SNORD114-25_ENST00000363742.1_RNA TATGAGTCTTTTGCGATGAAT 0.383000 180 30 0 0 0.003610 0 0 AKNAD1 254268 broad.mit.edu 37 1 109385883 109385883 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:109385883C>T ENST00000370001.3 - 6 1520 c.1252G>A c.(1252-1254)Gag>Aag p.E418K AKNAD1_ENST00000357393.4_Missense_Mutation_p.E125K|AKNAD1_ENST00000369994.1_Missense_Mutation_p.E418K|AKNAD1_ENST00000369995.3_Missense_Mutation_p.E418K NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 418 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 TGCAGTTTCTCCAGGACCTGC 0.493000 31 34 0 0 0.003755 0 0 PRKCI 5584 broad.mit.edu 37 3 169985720 169985720 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:169985720G>T ENST00000295797.4 + 5 687 c.382G>T c.(382-384)Ggt>Tgt p.G128C NM_002740.5 NP_002731.4 P41743 KPCI_HUMAN protein kinase C, iota 128 Regulatory domain. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) CTACCGTAGAGGTGCACGCCG 0.363000 27 6 2.61193e-14 4.61644e-14 0.001786 1 0 SLC44A4 80736 broad.mit.edu 37 6 31831479 31831479 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:31831479G>A ENST00000544672.1 - 21 2126 c.1830C>T c.(1828-1830)taC>taT p.Y610Y SLC44A4_ENST00000375562.4_Silent_p.Y644Y|SLC44A4_ENST00000229729.6_Silent_p.Y686Y NM_001178045.1 NP_001171516.1 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 686 integral to membrane|plasma membrane choline transmembrane transporter activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) TCTTGGACATGTAGTAGGGCC 0.597000 15 2 0 0 0.002450 0 0 GLG1 2734 broad.mit.edu 37 16 74516969 74516969 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:74516969C>G ENST00000422840.2 - 10 1624 c.1625G>C c.(1624-1626)tGt>tCt p.C542S GLG1_ENST00000447066.2_Missense_Mutation_p.C531S|GLG1_ENST00000205061.5_Missense_Mutation_p.C542S NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 542 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 ACGGTGTTCACAGTCTTCTAC 0.413000 28 37 0 0 0.003755 0 0 MCM5 4174 broad.mit.edu 37 22 35806852 35806852 + Nonsense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr22:35806852C>T ENST00000216122.4 + 7 1022 c.868C>T c.(868-870)Cga>Tga p.R290* MCM5_ENST00000382011.5_Nonsense_Mutation_p.R247* NM_006739.3 NP_006730.2 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 290 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 CGTGGGCATCCGAAGCTCCTA 0.587000 12 26 0 0 0.000978 0 0 GSTM5 2949 broad.mit.edu 37 1 110256088 110256088 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:110256088G>A ENST00000369813.1 + 2 942 c.37G>A c.(37-39)Ggt>Agt p.G13S GSTM5_ENST00000256593.3_Intron|GSTM5_ENST00000369812.5_Missense_Mutation_p.G73S P46439 GSTM5_HUMAN glutathione S-transferase mu 5 0 GST N-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 21 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) GAGCTTCCCCGGTTTCCCATC 0.582000 27 122 0 0 0.002096 0 0 TMCO3 55002 broad.mit.edu 37 13 114154387 114154387 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr13:114154387G>A ENST00000434316.2 + 4 1098 c.739G>A c.(739-741)Gac>Aac p.D247N TMCO3_ENST00000375391.1_Missense_Mutation_p.D247N|TMCO3_ENST00000474393.1_3'UTR NM_017905.4 NP_060375.4 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 247 integral to membrane solute:hydrogen antiporter activity NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1) 25 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) CATGCTGATTGACTCCCAGAA 0.453000 18 37 0 0 0.004990 0 0 STRA8 346673 broad.mit.edu 37 7 134931195 134931195 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:134931195T>A ENST00000275764.3 + 6 473 c.473T>A c.(472-474)aTg>aAg p.M158K NM_182489.1 NP_872295.1 Q7Z7C7 STRA8_HUMAN stimulated by retinoic acid 8 158 DNA replication|regulation of transcription, DNA-dependent cytoplasm|nucleus breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1) 16 AAACAGACGATGGACCTTCTG 0.597000 9 4 0 0 0.000978 0 0 VAV3 10451 broad.mit.edu 37 1 108116723 108116723 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:108116723C>T ENST00000370056.4 - 26 2722 c.2448G>A c.(2446-2448)aaG>aaA p.K816K VAV3_ENST00000544443.1_Silent_p.K220K|VAV3_ENST00000527011.1_Silent_p.K844K|VAV3_ENST00000415432.2_Silent_p.K256K|VAV3_ENST00000343258.4_5'UTR NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 816 SH3 2. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) TTGTGTAAATCTTCACCACAT 0.478000 81 143 0 0 0.003610 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106810228 106810228 + Silent SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:106810228A>G ENST00000526355.1 - 4 1632 c.1164T>C c.(1162-1164)atT>atC p.I388I GUCY1A2_ENST00000282249.2_Silent_p.I388I|GUCY1A2_ENST00000347596.2_Silent_p.I388I NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 388 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GCTTGGTTCTAATCACAAACG 0.443000 35 114 0 0 0.003755 0 0 NRAP 4892 broad.mit.edu 37 10 115384620 115384620 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:115384620G>A ENST00000369358.4 - 22 2582 c.2338C>T c.(2338-2340)Ctg>Ttg p.L780L NRAP_ENST00000359988.3_Silent_p.L772L|NRAP_ENST00000360478.3_Silent_p.L737L|NRAP_ENST00000369360.3_Silent_p.L745L Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 772 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CGGGCCTGCAGGAAGAGAGGC 0.532000 11 96 0 0 0.004990 0 0 SLC5A12 159963 broad.mit.edu 37 11 26725171 26725171 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:26725171A>T ENST00000396005.3 - 6 1037 c.728T>A c.(727-729)gTg>gAg p.V243E SLC5A12_ENST00000280467.6_Missense_Mutation_p.V243E NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 243 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 AGTTCCTCCCACTGTGATAGT 0.408000 33 131 0 0 0.002096 0 0 ZCCHC2 54877 broad.mit.edu 37 18 60237354 60237354 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:60237354G>C ENST00000269499.5 + 12 2283 c.1865G>C c.(1864-1866)gGc>gCc p.G622A ZCCHC2_ENST00000586834.1_Missense_Mutation_p.G301A NM_017742.4 NP_060212.4 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 622 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 TTGGACATTGGCTCTGGACAT 0.313000 5 7 0 0 0.001168 0 0 OR4A16 81327 broad.mit.edu 37 11 55111468 55111468 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:55111468C>T ENST00000314721.2 + 1 842 c.792C>T c.(790-792)ccC>ccT p.P264P NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 CCAACTTTCCCTTTGATAAAT 0.368000 10 28 0 0 0.008291 0 0 SLC26A7 115111 broad.mit.edu 37 8 92261894 92261894 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:92261894G>A ENST00000276609.3 + 2 254 c.15G>A c.(13-15)aaG>aaA p.K5K SLC26A7_ENST00000309536.2_Silent_p.K5K|SLC26A7_ENST00000523719.1_Silent_p.K5K NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 5 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) CAGGAGCAAAGAGGAAAAAGA 0.413000 45 61 0 0 0.003610 0 0 SULF2 55959 broad.mit.edu 37 20 46331302 46331302 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:46331302C>A ENST00000359930.4 - 4 1379 c.528G>T c.(526-528)cgG>cgT p.R176R SULF2_ENST00000467815.1_Silent_p.R176R|SULF2_ENST00000361612.4_Silent_p.R176R|SULF2_ENST00000484875.1_Silent_p.R176R NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 176 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 TCACCCCGTTCCGACACAGCG 0.542000 16 32 4.7546e-09 7.43283e-09 0.004007 1 0 CAMK4 814 broad.mit.edu 37 5 110730453 110730453 + Silent SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:110730453C>G ENST00000282356.4 + 5 830 c.432C>G c.(430-432)gcC>gcG p.A144A CAMK4_ENST00000512453.1_Silent_p.A144A NM_001744.4 NP_001735.1 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 144 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) CTGCAGATGCCGTTAAACAAA 0.388000 24 33 0 0 0.002299 0 0 TOP2A 7153 broad.mit.edu 37 17 38555031 38555031 + Missense_Mutation SNP A A C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:38555031A>C ENST00000423485.1 - 26 3605 c.3447T>G c.(3445-3447)aaT>aaG p.N1149K NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 1149 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) TCACTTTTTCATTTCTTAGCC 0.363000 16 63 0 0 0.008871 0 0 KCNK13 56659 broad.mit.edu 37 14 90650517 90650517 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:90650517G>T ENST00000282146.4 + 2 838 c.397G>T c.(397-399)Gtt>Ttt p.V133F NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 133 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) TTACGGCCTTGTTGGGTGTTC 0.502000 80 23 1.75807e-36 3.93871e-36 0.003610 1 0 B4GALT4 8702 broad.mit.edu 37 3 118937606 118937606 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:118937606C>G ENST00000467604.1 - 6 1079 c.688G>C c.(688-690)Gga>Cga p.G230R B4GALT4_ENST00000393765.2_Missense_Mutation_p.G230R|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000483209.1_Missense_Mutation_p.G230R|B4GALT4_ENST00000359213.3_Missense_Mutation_p.G230R|B4GALT4_ENST00000460321.1_5'UTR O60513 B4GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 230 membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding|N-acetyllactosamine synthase activity breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2) 14 GBM - Glioblastoma multiforme(114;0.222) N-Acetyl-D-glucosamine(DB00141) CCAAAATATCCACTGTAACGT 0.473000 6 98 0 0 0.003080 0 0 LILRA6 79168 broad.mit.edu 37 19 54744954 54744954 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:54744954G>T ENST00000440558.2 - 5 756 c.708C>A c.(706-708)gcC>gcA p.A236A LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_Silent_p.A236A|LILRA6_ENST00000396365.2_Silent_p.A236A|LILRA6_ENST00000245621.5_Silent_p.A236A|LILRA6_ENST00000270464.5_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 p.A236A(1) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCTGCCCAGGGGCCAGGACAG 0.642000 7 33 5.4927e-09 8.55961e-09 0.004482 1 0 BMPER 168667 broad.mit.edu 37 7 34182920 34182920 + Silent SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:34182920C>G ENST00000297161.2 + 15 2198 c.1824C>G c.(1822-1824)gcC>gcG p.A608A BMPER_ENST00000426693.1_Silent_p.A608A NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 608 blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 ATACCCGGGCCTGCCAGAGAG 0.473000 11 60 0 0 0.008291 0 0 TGFBR3 7049 broad.mit.edu 37 1 92193306 92193306 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:92193306C>T ENST00000212355.4 - 7 1260 c.795G>A c.(793-795)gtG>gtA p.V265V TGFBR3_ENST00000370399.2_Silent_p.V265V|TGFBR3_ENST00000525962.1_Silent_p.V265V NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 265 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) GATTTTTGACCACTTCAAGAT 0.383000 21 46 0 0 0.001523 0 0 HECW1 23072 broad.mit.edu 37 7 43519207 43519207 + Splice_Site SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:43519207A>G ENST00000395891.1 + 17 3704 c.e17-1 HECW1_ENST00000453890.1_Splice_Site NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GTCTGTTCGCAGTCTTTTTTC 0.493000 48 20 0 0 0.003610 0 0 PREX1 57580 broad.mit.edu 37 20 47307504 47307504 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:47307504G>T ENST00000396220.1 - 9 1189 c.1167C>A c.(1165-1167)cgC>cgA p.R389R PREX1_ENST00000371941.3_Silent_p.R389R Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 389 PH. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GCTCCCGCTCGCGGATGATGG 0.592000 40 47 2.51966e-14 4.46133e-14 0.003610 1 0 CADM2 253559 broad.mit.edu 37 3 85961612 85961612 + Nonsense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:85961612G>T ENST00000383699.3 + 6 1246 c.619G>T c.(619-621)Gga>Tga p.G207* CADM2_ENST00000407528.2_Nonsense_Mutation_p.G198*|CADM2_ENST00000405615.2_Nonsense_Mutation_p.G200* NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 198 Ig-like C2-type 1. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GAGTGATGATGGAGTGGCGGT 0.453000 20 7 1.87028e-06 2.69757e-06 0.001882 1 0 MED12L 116931 broad.mit.edu 37 3 150840728 150840728 + Silent SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:150840728A>T ENST00000474524.1 + 3 401 c.363A>T c.(361-363)gcA>gcT p.A121A MED12L_ENST00000422248.2_Silent_p.A121A|MED12L_ENST00000309237.4_Silent_p.A121A|MED12L_ENST00000273432.4_Silent_p.A121A NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 121 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTGACTTAGCAGGAAATAAGC 0.343000 27 9 0 0 0.008361 0 0 CACNA1C 775 broad.mit.edu 37 12 2613653 2613653 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:2613653G>T ENST00000399634.1 + 8 1165 c.1165G>T c.(1165-1167)Gtc>Ttc p.V389F CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399641.1_Missense_Mutation_p.V389F|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000406454.3_Missense_Mutation_p.V389F|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399617.1_Missense_Mutation_p.V389F|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399603.1_Missense_Mutation_p.V389F|CACNA1C_ENST00000399637.1_Intron NM_001167625.1 NP_001161097.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 389 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TGTCAGTCTGGTCATCTTTGG 0.473000 76 23 8.67779e-30 1.88019e-29 0.003610 1 0 TTN 7273 broad.mit.edu 37 2 179463659 179463659 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:179463659G>T ENST00000589042.1 - 291 57002 c.56778C>A c.(56776-56778)acC>acA p.T18926T TTN_ENST00000342992.6_Silent_p.T16358T|TTN_ENST00000460472.2_Silent_p.T9861T|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.T9986T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.T17285T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.T10053T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17285 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTTTGAAGTGGTGTCTTTCA 0.453000 10 37 2.27111e-07 3.3793e-07 0.001368 1 0 CSPG4 1464 broad.mit.edu 37 15 75979682 75979682 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr15:75979682C>G ENST00000308508.5 - 3 3816 c.3724G>C c.(3724-3726)Gtc>Ctc p.V1242L NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1242 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 TTGTGCCGGACCAGCTTCAGT 0.617000 18 32 0 0 0.008871 0 0 MTTP 4547 broad.mit.edu 37 4 100521876 100521876 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:100521876C>T ENST00000457717.1 + 10 1478 c.1222C>T c.(1222-1224)Ctg>Ttg p.L408L MTTP_ENST00000511045.1_Silent_p.L435L|MTTP_ENST00000265517.5_Silent_p.L408L|RP11-766F14.1_ENST00000508578.1_RNA NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 408 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) TGAAGAACTCCTGAGAGCCCT 0.358000 20 30 0 0 0.001523 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994077 140994077 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:140994077A>T ENST00000285879.4 + 4 1173 c.887A>T c.(886-888)gAg>gTg p.E296V MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 296 protein binding 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) AGTACTTTTGAGGGTTTTCCC 0.498000 HNSCC(15;0.026) 26 30 0 0 0.008361 0 0 CCR3 1232 broad.mit.edu 37 3 46307665 46307665 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:46307665C>G ENST00000357422.2 + 4 1559 c.1016C>G c.(1015-1017)aCc>aGc p.T339S CCR3_ENST00000395940.2_Missense_Mutation_p.T339S|CCR3_ENST00000395942.2_Missense_Mutation_p.T339S|CCR3_ENST00000545097.1_Missense_Mutation_p.T360S|CCR3_ENST00000541018.1_Missense_Mutation_p.T339S P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 339 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) CTGGAAAGAACCAGCTCTGTC 0.507000 11 14 0 0 0.008291 0 0 ZNF292 23036 broad.mit.edu 37 6 87970160 87970160 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:87970160G>T ENST00000369577.3 + 8 6856 c.6813G>T c.(6811-6813)tcG>tcT p.S2271S ZNF292_ENST00000339907.4_Silent_p.S2266S NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 2271 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) CAACCCGGTCGAATCTCCTCC 0.418000 14 27 6.72482e-11 1.0982e-10 0.003163 1 0 MROH2B 133558 broad.mit.edu 37 5 41018863 41018863 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:41018863G>T ENST00000399564.4 - 26 3053 c.2603C>A c.(2602-2604)gCc>gAc p.A868D MROH2B_ENST00000506092.2_Missense_Mutation_p.A423D NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TTTTCCTAGGGCGTCCATGGA 0.453000 19 89 1.33834e-09 2.12585e-09 0.007413 1 0 TACR3 6870 broad.mit.edu 37 4 104512726 104512726 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:104512726G>T ENST00000304883.2 - 4 1143 c.1003C>A c.(1003-1005)Cag>Aag p.Q335K RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 335 integral to plasma membrane tachykinin receptor activity 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) TAGACCTGCTGGATGTATTTC 0.393000 40 19 8.01111e-26 1.66983e-25 0.002522 1 0 TRPC5 7224 broad.mit.edu 37 X 111090519 111090519 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:111090519A>G ENST00000262839.2 - 6 2441 c.1523T>C c.(1522-1524)aTc>aCc p.I508T NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 508 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TCCCAAAGAGATCTGCAGAGG 0.448000 37 7 0 0 0.006230 0 0 SLC5A7 60482 broad.mit.edu 37 2 108618393 108618393 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:108618393C>T ENST00000264047.2 + 6 914 c.638C>T c.(637-639)gCa>gTa p.A213V SLC5A7_ENST00000409059.1_Missense_Mutation_p.A213V|SLC5A7_ENST00000540517.1_Missense_Mutation_p.A108V NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 213 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) CCTGCAGTCGCAGACATCGGG 0.488000 21 69 0 0 0.003330 0 0 FADS3 3995 broad.mit.edu 37 11 61646289 61646289 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:61646289C>A ENST00000540820.1 - 4 625 c.553G>T c.(553-555)Ggc>Tgc p.G185C FADS3_ENST00000525588.1_Missense_Mutation_p.G157C|FADS3_ENST00000278829.2_Missense_Mutation_p.G185C|FADS3_ENST00000527697.1_Missense_Mutation_p.G61C Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 185 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GAGGCATGGCCCAGGTCATGC 0.632000 21 28 0.000295444 0.000396601 0.002299 1 0 NPHS1 4868 broad.mit.edu 37 19 36334447 36334447 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:36334447C>A ENST00000378910.5 - 17 2260 c.2261G>T c.(2260-2262)gGg>gTg p.G754V NPHS1_ENST00000353632.6_Missense_Mutation_p.G754V NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 754 Ig-like C2-type 7. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CACAGAACCCCCGACGTTCAC 0.592000 26 37 4.02929e-09 6.33907e-09 0.002096 1 0 HMMR 3161 broad.mit.edu 37 5 162917455 162917455 + Silent SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:162917455A>G ENST00000416990.2 + 17 2174 c.1677A>G c.(1675-1677)caA>caG p.Q559Q HMMR_ENST00000393915.4_Silent_p.Q674Q|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000358715.3_Silent_p.Q673Q|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000353866.3_Silent_p.Q658Q|HMMR_ENST00000432118.2_Silent_p.Q587Q O75330 HMMR_HUMAN hyaluronan-mediated motility receptor (RHAMM) 673 cell surface|cytoplasm hyaluronic acid binding cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 23 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) CAAAACTTCAAGAGGAATTGA 0.313000 4 105 0 0 0.000602 0 0 TECRL 253017 broad.mit.edu 37 4 65165692 65165692 + Splice_Site SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:65165692C>A ENST00000381210.3 - 8 884 c.774_splice c.e8+1 p.L258_splice TECRL_ENST00000507440.1_Splice_Site_p.L258_splice|TECRL_ENST00000513125.1_5'UTR NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 258 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 TGATACATACCAGAAAATTGA 0.299000 37 51 8.16277e-20 1.60654e-19 0.006999 1 0 PAK7 57144 broad.mit.edu 37 20 9561076 9561076 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:9561076G>A ENST00000378429.3 - 5 1252 c.706C>T c.(706-708)Cct>Tct p.P236S PAK7_ENST00000353224.5_Missense_Mutation_p.P236S|PAK7_ENST00000378423.1_Missense_Mutation_p.P236S NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 236 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GTTCTAGAAGGTGTGAATTGG 0.517000 31 66 0 0 0.001786 0 0 MRPL19 9801 broad.mit.edu 37 2 75881930 75881930 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:75881930C>T ENST00000393909.2 + 5 569 c.544C>T c.(544-546)Cgg>Tgg p.R182W MRPL19_ENST00000409374.1_Missense_Mutation_p.R182W|MRPL19_ENST00000358788.6_Intron NM_014763.3 NP_055578.2 P49406 RM19_HUMAN mitochondrial ribosomal protein L19 182 translation mitochondrion|nuclear membrane|ribosome structural constituent of ribosome kidney(1)|large_intestine(1)|lung(6) 8 ATTAGAGAAACGGCTGGATGA 0.388000 17 66 0 0 0.007413 0 0 ALKBH1 8846 broad.mit.edu 37 14 78140172 78140172 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:78140172T>A ENST00000216489.3 - 6 1168 c.1153A>T c.(1153-1155)Ata>Tta p.I385L NM_006020.2 NP_006011.2 Q13686 ALKB1_HUMAN alkB, alkylation repair homolog 1 (E. coli) 385 DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) TCAGGGTTTATCCTGGCCCGT 0.453000 37 24 0 0 0.005524 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993867 140993867 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:140993867A>T ENST00000285879.4 + 4 963 c.677A>T c.(676-678)gAg>gTg p.E226V MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 226 protein binding 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) AGTACTTTTGAGGGTTTTGCC 0.493000 HNSCC(15;0.026) 40 50 0 0 0.008740 0 0 MAP3K5 4217 broad.mit.edu 37 6 136934306 136934306 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:136934306T>A ENST00000359015.4 - 17 2727 c.2367A>T c.(2365-2367)gaA>gaT p.E789D MAP3K5_ENST00000355845.4_Missense_Mutation_p.E36D NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 789 Protein kinase. activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) ATTTTAATCCTTCCAGTATTT 0.383000 19 25 0 0 0.008871 0 0 NOX3 50508 broad.mit.edu 37 6 155743903 155743903 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:155743903G>T ENST00000159060.2 - 10 1335 c.1233C>A c.(1231-1233)gtC>gtA p.V411V NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 411 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CGAAGGGAGTGACTCCGATCC 0.522000 20 73 6.33239e-15 1.13546e-14 0.001523 1 0 DPYD 1806 broad.mit.edu 37 1 97700500 97700500 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:97700500C>A ENST00000370192.3 - 19 2450 c.2350G>T c.(2350-2352)Gct>Tct p.A784S DPYD-AS1_ENST00000422980.1_RNA NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 784 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CCAGGCAGAGCACGAGCAATG 0.463000 18 15 0.000566183 0.000752879 0.004990 1 0 MAP1S 55201 broad.mit.edu 37 19 17837847 17837847 + Nonsense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:17837847A>T ENST00000324096.4 + 5 1805 c.1654A>T c.(1654-1656)Aag>Tag p.K552* MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Nonsense_Mutation_p.K526* NM_018174.4 NP_060644.4 Q66K74 MAP1S_HUMAN microtubule-associated protein 1S 552 Necessary for the microtubule-organizing center localization. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 25 GCCCAACCTCAAGAAGACGAA 0.682000 11 2 0 0 0.001368 0 0 JPH1 56704 broad.mit.edu 37 8 75227360 75227360 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:75227360C>A ENST00000342232.4 - 2 915 c.875G>T c.(874-876)gGc>gTc p.G292V NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 292 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) AACGCCGAAGCCGTTGCGCTT 0.547000 105 108 5.74361e-68 1.33837e-67 0.003610 1 0 TRPC4 7223 broad.mit.edu 37 13 38213192 38213192 + Silent SNP G G T rs116527482 by1000genomes TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr13:38213192G>T ENST00000379705.3 - 10 3053 c.2196C>A c.(2194-2196)acC>acA p.T732T TRPC4_ENST00000379679.1_Silent_p.T559T|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000358477.2_Silent_p.T732T|TRPC4_ENST00000379673.2_Silent_p.T667T|TRPC4_ENST00000379681.3_Silent_p.T737T|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000338947.5_Silent_p.T559T Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 732 Binds to ITPR1, ITPR2 and ITPR3. 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.T732T(1)|p.T737T(1) 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) AGTTCTCTTCGGTCAGGCCTT 0.398000 100 33 3.52173e-36 7.85432e-36 0.003610 1 0 GYS2 2998 broad.mit.edu 37 12 21695501 21695501 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:21695501G>T ENST00000261195.2 - 13 1828 c.1574C>A c.(1573-1575)cCc>cAc p.P525H NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 525 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 GGTCACACTGGGGATACCCAT 0.517000 30 44 4.22769e-11 6.93848e-11 0.006320 1 0 COL3A1 1281 broad.mit.edu 37 2 189862437 189862437 + Silent SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:189862437T>A ENST00000304636.3 + 27 2051 c.1881T>A c.(1879-1881)ggT>ggA p.G627G COL3A1_ENST00000317840.5_Silent_p.G627G NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 627 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGCCTGGTGGTGACAAAGGAG 0.383000 105 39 0 0 0.003610 0 0 KCNAB1 7881 broad.mit.edu 37 3 156009858 156009858 + Silent SNP G G T rs138625130 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:156009858G>T ENST00000302490.8 + 1 1033 c.162G>T c.(160-162)acG>acT p.T54T KCNAB1_ENST00000389634.5_Silent_p.T54T|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000490337.1_Intron NM_172159.3 NP_751891.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 72 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity p.T54T(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) GGACGTTCACGCCTCAGCATC 0.567000 62 8 2.02627e-32 4.46865e-32 0.003610 1 0 ABCA4 24 broad.mit.edu 37 1 94506797 94506797 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:94506797T>C ENST00000370225.3 - 23 3576 c.3490A>G c.(3490-3492)Aaa>Gaa p.K1164E NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1164 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TGGATGTTTTTCATCTTGCGC 0.567000 14 56 0 0 0.002450 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84531667 84531667 + RNA SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:84531667C>A ENST00000527857.1 + 0 1689 NR_026851.1 AGTACTTCCCCCTCCCCAGAC 0.517000 46 11 1.23103e-26 2.6156e-26 0.003214 1 0 CR2 1380 broad.mit.edu 37 1 207640047 207640047 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:207640047G>T ENST00000367057.3 + 2 424 c.235G>T c.(235-237)Gct>Tct p.A79S CR2_ENST00000367058.3_Missense_Mutation_p.A79S|CR2_ENST00000367059.3_Missense_Mutation_p.A79S|CR2_ENST00000458541.2_Missense_Mutation_p.A79S NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 79 Sushi 1. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 GGATAAACCTGCTCCTAAATG 0.408000 38 61 6.97489e-18 1.32268e-17 0.004878 1 0 PIEZO2 63895 broad.mit.edu 37 18 10672706 10672706 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:10672706C>A ENST00000302079.6 - 50 7797 c.7798G>T c.(7798-7800)Ggg>Tgg p.G2600W PIEZO2_ENST00000285141.4_Missense_Mutation_p.G455W|PIEZO2_ENST00000503781.3_Missense_Mutation_p.G2663W|PIEZO2_ENST00000580640.1_Missense_Mutation_p.G2688W|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000538948.1_Missense_Mutation_p.G620W Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2663 integral to membrane ion channel activity p.G2663R(1)|p.G455R(1) GCCAGGAACCCCAGACTTGGG 0.463000 34 118 9.04072e-19 1.75486e-18 0.003271 1 0 MRPS22 56945 broad.mit.edu 37 3 139065733 139065733 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:139065733C>G ENST00000495075.1 + 4 618 c.186C>G c.(184-186)agC>agG p.S62R MRPS22_ENST00000478464.1_Missense_Mutation_p.S21R|MRPS22_ENST00000310776.4_Missense_Mutation_p.S62R|MRPS22_ENST00000465056.1_Missense_Mutation_p.S61R P82650 RT22_HUMAN mitochondrial ribosomal protein S22 62 mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 AATCTGGTAGCCCAGAGACCA 0.363000 103 8 0 0 0.003610 0 0 OR2W3 343171 broad.mit.edu 37 1 248059669 248059669 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:248059669C>A ENST00000537741.1 + 3 1038 c.781C>A c.(781-783)Cag>Aag p.Q261K OR2W3_ENST00000360358.3_Missense_Mutation_p.Q261K Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CATGTACATGCAGCCAGGAGC 0.522000 27 71 4.7796e-09 7.46011e-09 0.004656 1 0 MCF2L 23263 broad.mit.edu 37 13 113728758 113728758 + Splice_Site SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr13:113728758G>A ENST00000397030.1 + 10 1133 c.1095_splice c.e10-1 p.V366_splice MCF2L_ENST00000375604.2_Splice_Site_p.V390_splice|MCF2L_ENST00000434480.2_Splice_Site_p.V339_splice|MCF2L_ENST00000421756.1_Splice_Site_p.V337_splice|MCF2L_ENST00000442652.2_Splice_Site_p.V363_splice|MCF2L_ENST00000375608.3_Splice_Site_p.V363_splice|MCF2L_ENST00000375601.3_Splice_Site_p.V337_splice|MCF2L_ENST00000535094.2_Splice_Site_p.V333_splice|MCF2L_ENST00000375597.4_Splice_Site_p.V331_splice|MCF2L_ENST00000423482.2_Splice_Site_p.V331_splice O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 363 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|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) TCTGTTCCAGGTCAAAGCCAT 0.572000 8 41 0 0 0.004482 0 0 CUBN 8029 broad.mit.edu 37 10 16930475 16930475 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:16930475A>T ENST00000377833.4 - 56 8911 c.8846T>A c.(8845-8847)gTc>gAc p.V2949D NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2949 CUB 22. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGCCTCTATGACATAGGTGCA 0.363000 12 43 0 0 0.000978 0 0 CIB3 117286 broad.mit.edu 37 19 16280476 16280476 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:16280476G>T ENST00000269878.4 - 3 212 c.163C>A c.(163-165)Ccc>Acc p.P55T CIB3_ENST00000379859.3_Intron|CIB3_ENST00000541493.1_Intron NM_054113.2 NP_473454.1 Q96Q77 CIB3_HUMAN calcium and integrin binding family member 3 55 calcium ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 AGCTCGTAGGGCACCTTCACA 0.557000 10 4 5.50884e-06 7.79761e-06 0.001368 1 0 CD109 135228 broad.mit.edu 37 6 74497058 74497058 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:74497058G>T ENST00000437994.2 + 21 2870 c.2439G>T c.(2437-2439)gaG>gaT p.E813D CD109_ENST00000287097.5_Missense_Mutation_p.E813D|CD109_ENST00000422508.2_Missense_Mutation_p.E736D NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 813 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TTCCCAGTGAGGATGGGGCAA 0.443000 30 37 4.31634e-10 6.9682e-10 0.002445 1 0 OR5AR1 219493 broad.mit.edu 37 11 56431458 56431458 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:56431458C>A ENST00000302969.2 + 1 321 c.297C>A c.(295-297)acC>acA p.T99T NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 GCTGTGCCACCCAGTTTGCTT 0.502000 79 101 1.03218e-28 2.22178e-28 0.003610 1 0 ZDBF2 57683 broad.mit.edu 37 2 207171188 207171188 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:207171188A>G ENST00000374423.3 + 5 2322 c.1936A>G c.(1936-1938)Ata>Gta p.I646V NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 646 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TGTTGAAAAGATAAATCTTCT 0.423000 17 112 0 0 0.004990 0 0 TTN 7273 broad.mit.edu 37 2 179592015 179592015 + Nonsense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:179592015C>A ENST00000589042.1 - 69 20301 c.20077G>T c.(20077-20079)Gga>Tga p.G6693* TTN_ENST00000342992.6_Nonsense_Mutation_p.G5449*|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.G6376*|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6376 Ig-like 48. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTGGGGATCCAGCTATCTTG 0.418000 33 13 1.04352e-10 1.69851e-10 0.003755 1 0 GGH 8836 broad.mit.edu 37 8 63951236 63951236 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:63951236G>A ENST00000260118.6 - 1 494 c.92C>T c.(91-93)gCc>gTc p.A31V NM_003878.2 NP_003869.1 Q92820 GGH_HUMAN gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) 31 Gamma-glutamyl hydrolase. A -> T (in dbSNP:rs11545077). glutamine metabolic process extracellular space|lysosome|melanosome gamma-glutamyl-peptidase activity breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1) 11 Breast(64;0.0716) all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131) Folic Acid(DB00158)|L-Glutamic Acid(DB00142) GGGCTTCTTGGCGGTGTCGCC 0.726000 7 13 0 0 0.006214 0 0 OR6T1 219874 broad.mit.edu 37 11 123813927 123813927 + Missense_Mutation SNP A A C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:123813927A>C ENST00000321252.2 - 1 653 c.619T>G c.(619-621)Tta>Gta p.L207V NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GAGCCCAGTAACACCAACGTA 0.532000 13 33 0 0 0.001368 0 0 RBM45 129831 broad.mit.edu 37 2 178990865 178990865 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:178990865C>T ENST00000286070.5 + 9 1479 c.1387C>T c.(1387-1389)Cca>Tca p.P463S RBM45_ENST00000464647.1_Intron NM_152945.2 NP_694453.2 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 465 RRM 3. cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) GGCAGATTCGCCAAGAGAAGA 0.373000 14 53 0 0 0.004007 0 0 ATAD2B 54454 broad.mit.edu 37 2 24005766 24005766 + Nonsense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:24005766C>A ENST00000238789.5 - 22 3449 c.3106G>T c.(3106-3108)Gag>Tag p.E1036* ATAD2B_ENST00000474583.1_5'UTR NM_001242338.1|NM_017552.2 NP_001229267.1|NP_060022.1 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 1036 Bromo. ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGATTATACTCTAAAGCATTG 0.358000 34 23 2.6416e-12 4.42356e-12 0.006230 1 0 GABRR3 200959 broad.mit.edu 37 3 97744491 97744491 + RNA SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:97744491C>G ENST00000472788.1 - 0 159 NM_001105580.2 NP_001099050.1 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 3 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity large_intestine(2)|lung(1) 3 CGCTTTGGTACTGTCATCTTT 0.388000 16 8 0 0 0.004007 0 0 PTPN11 5781 broad.mit.edu 37 12 112915664 112915664 + Nonsense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:112915664G>T ENST00000351677.2 + 9 1135 c.937G>T c.(937-939)Gaa>Taa p.E313* PTPN11_ENST00000392597.1_Nonsense_Mutation_p.E313* NM_002834.3 NP_002825.3 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 11 313 Tyrosine-protein phosphatase. axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3) 451 TTTCTAGCCTGAATTTGAAAC 0.378000 Mis """JMML, AML, MDS""" Noonan Syndrome Noonan syndrome 18 23 3.99206e-14 7.0056e-14 0.007413 1 0 YAE1D1 57002 broad.mit.edu 37 7 39611874 39611874 + Splice_Site SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:39611874A>G ENST00000223273.2 + 3 294 c.e3-1 YAE1D1_ENST00000448268.1_Intron|YAE1D1_ENST00000432096.2_Intron NM_020192.3 NP_064577.1 Q9NRH1 CG036_HUMAN Yae1 domain containing 1 ACTTTTGTTCAGTGCTTTGCT 0.308000 4 19 0 0 0.000248 0 0 DFNB31 25861 broad.mit.edu 37 9 117240967 117240967 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:117240967T>A ENST00000362057.3 - 2 871 c.703A>T c.(703-705)Acc>Tcc p.T235S DFNB31_ENST00000265134.6_5'UTR|DFNB31_ENST00000374057.3_Missense_Mutation_p.T235S NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219.3 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 235 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TCCACCCAGGTGTAGATGTGG 0.667000 16 2 0 0 0.004007 0 0 SORBS1 10580 broad.mit.edu 37 10 97078119 97078119 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:97078119T>C ENST00000371247.2 - 32 3958 c.3769A>G c.(3769-3771)Atc>Gtc p.I1257V SORBS1_ENST00000371246.2_Missense_Mutation_p.I1116V|SORBS1_ENST00000371241.1_Missense_Mutation_p.I649V|SORBS1_ENST00000353505.5_Missense_Mutation_p.I870V|SORBS1_ENST00000607232.1_Missense_Mutation_p.I1259V|SORBS1_ENST00000347291.4_Missense_Mutation_p.I811V|SORBS1_ENST00000306402.6_Missense_Mutation_p.I746V|SORBS1_ENST00000393949.1_Missense_Mutation_p.I969V|SORBS1_ENST00000371239.1_Missense_Mutation_p.I776V|SORBS1_ENST00000371245.3_Missense_Mutation_p.I870V|SORBS1_ENST00000371249.2_Missense_Mutation_p.I781V|SORBS1_ENST00000371227.4_Missense_Mutation_p.I1231V|SORBS1_ENST00000361941.3_Missense_Mutation_p.I1257V|SORBS1_ENST00000277982.5_Missense_Mutation_p.I1116V|SORBS1_ENST00000354106.3_Missense_Mutation_p.I969V Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 1257 SH3 3. focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) ACATCAACGATATCTCCATCG 0.368000 22 72 0 0 0.003954 0 0 RYR1 6261 broad.mit.edu 37 19 39062816 39062816 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:39062816A>T ENST00000355481.4 + 94 14020 c.13889A>T c.(13888-13890)gAa>gTa p.E4630V RYR1_ENST00000359596.3_Missense_Mutation_p.E4635V|RYR1_ENST00000360985.3_Missense_Mutation_p.E4630V NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4635 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TTCCTGGAGGAAAGCACAGGC 0.587000 25 48 0 0 0.005443 0 0 ZBTB7A 51341 broad.mit.edu 37 19 4047778 4047778 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:4047778T>A ENST00000322357.4 - 3 2005 c.1727A>T c.(1726-1728)gAc>gTc p.D576V ZBTB7A_ENST00000601588.1_Missense_Mutation_p.D576V NM_015898.2 NP_056982.1 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 576 cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) GAAGTTACCGTCGGTGGCGGC 0.602000 11 22 0 0 0.000978 0 0 INPP5J 27124 broad.mit.edu 37 22 31529925 31529925 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr22:31529925C>A ENST00000331075.5 + 13 2590 c.2541C>A c.(2539-2541)gcC>gcA p.A847A INPP5J_ENST00000400294.2_Silent_p.A480A|INPP5J_ENST00000412277.2_Silent_p.A780A|INPP5J_ENST00000401755.1_Silent_p.A212A|INPP5J_ENST00000402238.1_Silent_p.A186A|INPP5J_ENST00000405300.1_Silent_p.A480A|INPP5J_ENST00000404453.1_Silent_p.A212A|INPP5J_ENST00000404390.3_Silent_p.A479A Q15735 PI5PA_HUMAN inositol polyphosphate-5-phosphatase J 847 Ser-rich. cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 12 CGGAGTTGGCCAGCAGCAGCA 0.647000 15 19 3.32936e-07 4.93164e-07 0.006122 1 0 ALX4 60529 broad.mit.edu 37 11 44289130 44289130 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:44289130G>T ENST00000329255.3 - 3 923 c.820C>A c.(820-822)Cgt>Agt p.R274S NM_021926.3 NP_068745.2 Q9H161 ALX4_HUMAN ALX homeobox 4 274 hair follicle development central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 16 TGCCCAAAACGCTCCCGCTTC 0.597000 49 31 6.4308e-24 1.31003e-23 0.003610 1 0 HECW1 23072 broad.mit.edu 37 7 43548674 43548674 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:43548674G>A ENST00000395891.1 + 24 4578 c.3973G>A c.(3973-3975)Gtg>Atg p.V1325M AC011738.4_ENST00000436105.1_RNA|HECW1_ENST00000453890.1_Missense_Mutation_p.V1291M NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1325 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 TACTTACACGGTGCAGATCAG 0.448000 59 11 0 0 0.003610 0 0 FBLN2 2199 broad.mit.edu 37 3 13612322 13612322 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:13612322C>T ENST00000404922.3 + 2 586 c.467C>T c.(466-468)cCc>cTc p.P156L FBLN2_ENST00000295760.7_Missense_Mutation_p.P156L|FBLN2_ENST00000492059.1_Missense_Mutation_p.P156L|FBLN2_ENST00000535798.1_Missense_Mutation_p.P182L NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 156 N.|Subdomain NA (Cys-rich). proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CACCTGCCGCCCTGCCGGGCC 0.687000 7 2 0 0 0.004482 0 0 KRT1 3848 broad.mit.edu 37 12 53070126 53070126 + Missense_Mutation SNP T T G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:53070126T>G ENST00000252244.3 - 7 1466 c.1408A>C c.(1408-1410)Aac>Cac p.N470H NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 470 Coil 2.|Rod. 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 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 AGCTTTGTGTTCATCAGCTCC 0.592000 10 52 0 0 0.006214 0 0 DPF2 5977 broad.mit.edu 37 11 65111510 65111510 + Nonsense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:65111510G>T ENST00000528416.1 + 6 740 c.607G>T c.(607-609)Gag>Tag p.E203* DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Nonsense_Mutation_p.E203*|DPF2_ENST00000532264.1_3'UTR NM_006268.4 NP_006259.1 Q92785 REQU_HUMAN D4, zinc and double PHD fingers family 2 203 apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus nucleic acid binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1) 23 TTCCATCCTGGAGGACCGGGA 0.567000 27 35 2.44723e-14 4.34087e-14 0.004656 1 0 XKR6 286046 broad.mit.edu 37 8 10755777 10755777 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:10755777C>A ENST00000416569.2 - 3 1637 c.1611G>T c.(1609-1611)cgG>cgT p.R537R XKR6_ENST00000304437.2_Silent_p.R258R NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 537 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) CCTGGGTCCCCCGGTACCCAG 0.617000 11 15 0.000978159 0.00129028 0.000978 1 0 MYBL2 4605 broad.mit.edu 37 20 42331433 42331433 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:42331433G>T ENST00000217026.4 + 8 1382 c.1255G>T c.(1255-1257)Gct>Tct p.A419S MYBL2_ENST00000396863.4_Missense_Mutation_p.A395S NM_002466.2 NP_002457.1 P10244 MYBB_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 2 419 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GAGGCGTGTGGCTCTGTCCCC 0.612000 36 37 4.34311e-12 7.24829e-12 0.003271 1 0 ESRRG 2104 broad.mit.edu 37 1 216741352 216741352 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:216741352C>A ENST00000391890.3 - 6 1126 c.609G>T c.(607-609)ctG>ctT p.L203L ESRRG_ENST00000366938.2_Silent_p.L203L|ESRRG_ENST00000493748.1_Silent_p.L203L|ESRRG_ENST00000366940.2_Silent_p.L203L|ESRRG_ENST00000408911.3_Silent_p.L226L|ESRRG_ENST00000361525.3_Silent_p.L203L|ESRRG_ENST00000360012.3_Silent_p.L203L|ESRRG_ENST00000487276.1_Silent_p.L203L|ESRRG_ENST00000361395.2_Silent_p.L203L|ESRRG_ENST00000359162.2_Silent_p.L203L|ESRRG_ENST00000493603.1_Silent_p.L203L|ESRRG_ENST00000366937.1_Silent_p.L231L|ESRRG_ENST00000463665.1_Silent_p.L164L NM_001243515.1|NM_001243519.1 NP_001230444.1|NP_001230448.1 P62508 ERR3_HUMAN estrogen-related receptor gamma 226 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) CTGGCTGAACCAGCTGAGGGT 0.527000 18 77 9.16793e-09 1.41089e-08 0.004990 1 0 MEFV 4210 broad.mit.edu 37 16 3304279 3304279 + Silent SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:3304279T>A ENST00000219596.1 - 2 828 c.789A>T c.(787-789)ctA>ctT p.L263L MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 263 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) TCTTTTCCTCTAGAGTCAGGA 0.572000 39 68 0 0 0.007835 0 0 OTOGL 283310 broad.mit.edu 37 12 80747218 80747218 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:80747218G>A ENST00000458043.2 + 45 5500 c.5494G>A c.(5494-5496)Gac>Aac p.D1832N OTOGL_ENST00000547103.1_Missense_Mutation_p.D1820N NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TCTAAGAGAAGACTGTGTGTG 0.443000 5 11 0 0 0.000602 0 0 DNAH9 1770 broad.mit.edu 37 17 11772571 11772571 + Splice_Site SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:11772571G>C ENST00000262442.3 + 51 10121 c.e51+1 DNAH9_ENST00000454412.2_Splice_Site NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CAACCGCCTGGTGAGTGTAAG 0.512000 25 19 0 0 0.004656 0 0 NLRP8 126205 broad.mit.edu 37 19 56467457 56467457 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:56467457C>A ENST00000291971.3 + 3 2104 c.2033C>A c.(2032-2034)cCt>cAt p.P678H NLRP8_ENST00000590542.1_Missense_Mutation_p.P678H NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 678 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AGCTCCCATCCTGGCTCTGAG 0.552000 16 27 3.45872e-05 4.78601e-05 0.004007 1 0 GRIA4 2893 broad.mit.edu 37 11 105789637 105789637 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:105789637T>A ENST00000393127.2 + 11 1915 c.1469T>A c.(1468-1470)gTt>gAt p.V490D GRIA4_ENST00000530497.1_Missense_Mutation_p.V490D|GRIA4_ENST00000525187.1_Missense_Mutation_p.V490D|GRIA4_ENST00000282499.5_Missense_Mutation_p.V490D NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 490 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) GGAGAACTTGTTTATGGGGTA 0.353000 11 65 0 0 0.000978 0 0 CUX2 23316 broad.mit.edu 37 12 111748231 111748231 + Nonsense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:111748231G>T ENST00000261726.6 + 15 1799 c.1645G>T c.(1645-1647)Gag>Tag p.E549* NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 549 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GCCCGGGGCAGAGGAGGAGCA 0.711000 8 8 7.48243e-07 1.09521e-06 0.006214 1 0 CC2D1B 200014 broad.mit.edu 37 1 52823548 52823548 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:52823548G>C ENST00000371586.2 - 14 1640 c.1502C>G c.(1501-1503)cCa>cGa p.P501R CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.P495R|CC2D1B_ENST00000460261.1_5'UTR NM_032449.2 NP_115825.1 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 501 breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 27 CTTGGCCACTGGGGCCTGTGC 0.627000 27 6 0 0 0.007291 0 0 UEVLD 55293 broad.mit.edu 37 11 18587914 18587914 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:18587914T>C ENST00000396197.3 - 5 501 c.473A>G c.(472-474)tAt>tGt p.Y158C UEVLD_ENST00000320750.6_Missense_Mutation_p.Y136C|UEVLD_ENST00000535484.1_Missense_Mutation_p.Y120C|UEVLD_ENST00000543987.1_Missense_Mutation_p.Y158C|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000300038.7_Missense_Mutation_p.Y158C|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000379387.4_Missense_Mutation_p.Y136C NM_001040697.2|NM_001261384.1 NP_001035787.1|NP_001248313.1 Q8IX04 UEVLD_HUMAN UEV and lactate/malate dehyrogenase domains 158 cellular carbohydrate metabolic process|protein modification process|protein transport binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 TTTTGCAATATAGGCTAGCAA 0.378000 45 22 0 0 0.002522 0 0 CARD6 84674 broad.mit.edu 37 5 40853641 40853641 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:40853641C>G ENST00000254691.5 + 3 2406 c.2207C>G c.(2206-2208)aCc>aGc p.T736S CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 736 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 CTCTTTCCAACCAGAATTGGA 0.502000 181 199 0 0 0.003610 0 0 CAND1 55832 broad.mit.edu 37 12 67688923 67688923 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:67688923G>A ENST00000545606.1 + 4 915 c.478G>A c.(478-480)Gat>Aat p.D160N NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 160 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) TATTATGGCTGATATGTTGAG 0.343000 7 55 0 0 0.001984 0 0 CHAT 1103 broad.mit.edu 37 10 50835818 50835818 + Silent SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:50835818G>C ENST00000395562.2 + 8 1321 c.852G>C c.(850-852)acG>acC p.T284T CHAT_ENST00000351556.3_Silent_p.T248T|CHAT_ENST00000395559.2_Silent_p.T248T|CHAT_ENST00000337653.2_Silent_p.T366T|CHAT_ENST00000455728.2_Silent_p.T248T|CHAT_ENST00000339797.1_Silent_p.T248T NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 366 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) AGGCCAGGACGGTCCTCGTGA 0.602000 15 30 0 0 0.003163 0 0 CHST4 10164 broad.mit.edu 37 16 71571596 71571596 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:71571596C>A ENST00000338482.5 + 3 1359 c.1016C>A c.(1015-1017)cCc>cAc p.P339H ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.P339H|CHST4_ENST00000572450.1_Missense_Mutation_p.P339H|RP11-510M2.9_ENST00000572693.1_RNA Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 339 cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 TGGTCTTTGCCCTATGAAAAG 0.527000 OREG0023923 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 20 1.76689e-08 2.68982e-08 0.006214 1 0 SYT9 143425 broad.mit.edu 37 11 7441858 7441858 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:7441858C>A ENST00000318881.6 + 6 1696 c.1459C>A c.(1459-1461)Ctg>Atg p.L487M NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 487 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) CTGGCATTCCCTGGTGGAGGT 0.507000 33 28 7.63505e-26 1.60498e-25 0.002445 1 0 BAI3 577 broad.mit.edu 37 6 69349118 69349118 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:69349118G>C ENST00000370598.1 + 3 1372 c.551G>C c.(550-552)gGg>gCg p.G184A NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 184 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TCAGAAAATGGGAGAACAGAA 0.423000 19 34 0 0 0.006122 0 0 OR11H6 122748 broad.mit.edu 37 14 20692796 20692796 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:20692796C>T ENST00000315519.2 + 1 1006 c.928C>T c.(928-930)Ctt>Ttt p.L310F NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) TATCTATAGTCTTCGAAACAA 0.418000 102 40 0 0 0.003610 0 0 CYP4F12 66002 broad.mit.edu 37 19 15794413 15794413 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:15794413G>C ENST00000550308.1 + 7 1138 c.758G>C c.(757-759)gGg>gCg p.G253A CYP4F12_ENST00000324632.9_Missense_Mutation_p.G253A NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) TCCCATGACGGGCGGCGCTTC 0.552000 50 25 0 0 0.003610 0 0 OR2L8 391190 broad.mit.edu 37 1 248112502 248112502 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:248112502G>C ENST00000357191.3 + 1 343 c.343G>C c.(343-345)Gca>Cca p.A115P OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ACTACTTTTGGCATCTATGGC 0.438000 113 95 0 0 0.003610 0 0 CTLA4 1493 broad.mit.edu 37 2 204732769 204732769 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:204732769G>A ENST00000302823.3 + 1 261 c.104G>A c.(103-105)tGc>tAc p.C35Y CTLA4_ENST00000295854.6_Missense_Mutation_p.C35Y|CTLA4_ENST00000487393.1_3'UTR|CTLA4_ENST00000472206.1_Missense_Mutation_p.C35Y NM_005214.4 NP_005205.2 P16410 CTLA4_HUMAN cytotoxic T-lymphocyte-associated protein 4 35 B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm large_intestine(4)|lung(4)|skin(1) 9 Abatacept(DB01281) CCTGTCTTCTGCAAAGGTGAG 0.488000 22 137 0 0 0.002299 0 0 PCDHA6 56142 broad.mit.edu 37 5 140208979 140208979 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:140208979C>T ENST00000529310.1 + 1 1417 c.1303C>T c.(1303-1305)Ctg>Ttg p.L435L PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.L435L|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCGCCTTCGCTGTGGGCCAC 0.612000 28 59 0 0 0.002836 0 0 RDH10 157506 broad.mit.edu 37 8 74235015 74235015 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:74235015G>T ENST00000240285.5 + 5 1550 c.872G>T c.(871-873)cGc>cTc p.R291L RDH10_ENST00000519380.1_Missense_Mutation_p.R126L|RP11-434I12.2_ENST00000514599.1_RNA|RP11-434I12.2_ENST00000517475.1_RNA NM_172037.4 NP_742034.1 Q8IZV5 RDH10_HUMAN retinol dehydrogenase 10 (all-trans) 291 retinal metabolic process|retinol metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|microsome binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1) 11 Breast(64;0.0954) Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608) TGCACTCCCCGCCTCATGTAC 0.512000 69 68 4.83874e-46 1.10664e-45 0.003610 1 0 KMT2B 9757 broad.mit.edu 37 19 36216509 36216509 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:36216509A>G ENST00000222270.7 + 12 3772 c.3772A>G c.(3772-3774)Aaa>Gaa p.K1258E WBP7_ENST00000420124.1_Missense_Mutation_p.K1258E|KMT2B_ENST00000607650.1_RNA NM_014727.1 NP_055542.1 CTGTGGACGCAAAGGTCGTGG 0.637000 22 46 0 0 0.001523 0 0 CLCN7 1186 broad.mit.edu 37 16 1507714 1507714 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:1507714C>A ENST00000382745.4 - 8 1324 c.719G>T c.(718-720)gGg>gTg p.G240V CLCN7_ENST00000448525.1_Missense_Mutation_p.G216V|CLCN7_ENST00000262318.8_Missense_Mutation_p.G216V NM_001287.5 NP_001278.1 P51798 CLCN7_HUMAN chloride channel, voltage-sensitive 7 240 G -> R (in OPTB4). integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) GGCCAGGCCCCCGACCACGGA 0.627000 6 21 8.12818e-05 0.000110463 0.001984 1 0 INTS1 26173 broad.mit.edu 37 7 1539894 1539894 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:1539894C>A ENST00000389470.4 - 5 841 c.842G>T c.(841-843)cGc>cTc p.R281L INTS1_ENST00000404767.3_Missense_Mutation_p.R153L|INTS1_ENST00000493531.1_5'UTR Q8N201 INT1_HUMAN integrator complex subunit 1 153 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) AGGCTTGGCGCGGGTGACCTT 0.627000 4 5 1.23904e-05 1.72906e-05 0.000602 1 0 CDH18 1016 broad.mit.edu 37 5 19571701 19571701 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:19571701T>A ENST00000507958.1 - 10 2230 c.1240A>T c.(1240-1242)Aac>Tac p.N414Y CDH18_ENST00000511273.1_Missense_Mutation_p.N414Y|CDH18_ENST00000502796.1_Missense_Mutation_p.N414Y|CDH18_ENST00000506372.1_Missense_Mutation_p.N414Y|CDH18_ENST00000274170.4_Missense_Mutation_p.N414Y|CDH18_ENST00000382275.1_Missense_Mutation_p.N414Y Q13634 CAD18_HUMAN cadherin 18, type 2 414 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) ACTAAGCTGTTAGTACTGTCA 0.373000 58 97 0 0 0.003610 0 0 CRB1 23418 broad.mit.edu 37 1 197404400 197404400 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:197404400G>T ENST00000367397.1 + 5 2408 c.1550G>T c.(1549-1551)gGc>gTc p.G517V CRB1_ENST00000535699.1_Missense_Mutation_p.G1112V|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.G617V|CRB1_ENST00000367399.2_Missense_Mutation_p.G1024V|CRB1_ENST00000367400.3_Missense_Mutation_p.G1136V P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1136 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 GTGGTCACTGGCTGTTTGCAG 0.413000 23 70 1.10923e-09 1.77909e-09 0.002780 1 0 EPHA5 2044 broad.mit.edu 37 4 66509117 66509117 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:66509117C>T ENST00000273854.3 - 2 810 c.210G>A c.(208-210)atG>atA p.M70I EPHA5_ENST00000432638.2_Missense_Mutation_p.M70I|EPHA5_ENST00000511294.1_Missense_Mutation_p.M70I|EPHA5_ENST00000354839.4_Missense_Mutation_p.M70I NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 70 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 CCAGGTCCCCCATGACAGTGC 0.323000 TSP Lung(17;0.13) 34 13 0 0 0.008740 0 0 STRA8 346673 broad.mit.edu 37 7 134931196 134931196 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:134931196G>T ENST00000275764.3 + 6 474 c.474G>T c.(472-474)atG>atT p.M158I NM_182489.1 NP_872295.1 Q7Z7C7 STRA8_HUMAN stimulated by retinoic acid 8 158 DNA replication|regulation of transcription, DNA-dependent cytoplasm|nucleus breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1) 16 AACAGACGATGGACCTTCTGA 0.597000 9 4 6.40141e-05 8.77197e-05 0.000978 1 0 CAPZA3 93661 broad.mit.edu 37 12 18891912 18891912 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:18891912A>T ENST00000317658.3 + 1 868 c.710A>T c.(709-711)cAa>cTa p.Q237L NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 237 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) AACAAATTTCAAGCTGCAGTC 0.428000 20 50 0 0 0.008871 0 0 UBR4 23352 broad.mit.edu 37 1 19454761 19454761 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:19454761C>A ENST00000375267.2 - 62 9058 c.9055G>T c.(9055-9057)Ggg>Tgg p.G3019W UBR4_ENST00000375254.3_Missense_Mutation_p.G3019W|UBR4_ENST00000375226.2_Missense_Mutation_p.G2995W|UBR4_ENST00000375217.2_Missense_Mutation_p.G3012W Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 3019 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TCTAGGGCCCCCTTGTCTTTC 0.433000 52 21 5.73376e-24 1.17044e-23 0.003610 1 0 TSHZ1 10194 broad.mit.edu 37 18 72999633 72999633 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:72999633G>T ENST00000322038.5 + 2 2720 c.2136G>T c.(2134-2136)ctG>ctT p.L712L TSHZ1_ENST00000580243.1_Silent_p.L757L NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 757 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) ACACCCACCTGGGCAAGGTGT 0.602000 7 31 8.12818e-05 0.000110463 0.001984 1 0 DIAPH1 1729 broad.mit.edu 37 5 140953299 140953299 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:140953299G>A ENST00000253811.6 - 16 2258 c.2118C>T c.(2116-2118)ccC>ccT p.P706P DIAPH1_ENST00000398562.2_Silent_p.P685P|DIAPH1_ENST00000398557.4_Silent_p.P706P|DIAPH1_ENST00000389054.3_Silent_p.P706P|DIAPH1_ENST00000398566.3_Silent_p.P697P|DIAPH1_ENST00000518047.1_Silent_p.P697P|DIAPH1_ENST00000520569.1_Silent_p.P652P|DIAPH1_ENST00000389057.5_Silent_p.P697P O60610 DIAP1_HUMAN diaphanous-related formin 1 706 FH1. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCAGGCAAGGGAGGAGGTG 0.637000 3 2 0 0 0.000602 0 0 AKNAD1 254268 broad.mit.edu 37 1 109377570 109377570 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:109377570A>G ENST00000370001.3 - 8 1913 c.1645T>C c.(1645-1647)Tgt>Cgt p.C549R AKNAD1_ENST00000357393.4_Missense_Mutation_p.C256R|AKNAD1_ENST00000369994.1_Missense_Mutation_p.C519R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.C549R NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 549 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 GCCAGCTCACAGAGCTCCTCG 0.667000 12 68 0 0 0.000978 0 0 C10orf90 118611 broad.mit.edu 37 10 128192828 128192828 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:128192828G>A ENST00000284694.7 - 3 1061 c.941C>T c.(940-942)cCa>cTa p.P314L C10orf90_ENST00000544758.1_Missense_Mutation_p.P411L|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Missense_Mutation_p.P267L|C10orf90_ENST00000356858.3_Missense_Mutation_p.P267L|C10orf90_ENST00000454341.1_Missense_Mutation_p.P314L NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 314 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) TTCGCTTATTGGCTCTCTGTT 0.532000 OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 32 0 0 0.006230 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629486 9629486 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:9629486C>G ENST00000382492.2 - 1 977 c.659G>C c.(658-660)aGg>aCg p.R220T CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 220 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 GGGTGCACCCCTGCCAGGAAC 0.493000 19 60 0 0 0.007413 0 0 GPR133 283383 broad.mit.edu 37 12 131456050 131456050 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:131456050A>G ENST00000261654.5 + 4 794 c.235A>G c.(235-237)Aag>Gag p.K79E GPR133_ENST00000535015.1_Missense_Mutation_p.K111E NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 79 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GAAAGAGGAAAAGGGAGTCAC 0.463000 4 44 0 0 0.001168 0 0 MAGEL2 54551 broad.mit.edu 37 15 23889722 23889722 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr15:23889722A>T ENST00000532292.1 - 1 1453 c.1359T>A c.(1357-1359)gaT>gaA p.D453E NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) CTAAGCACTCATCTTTATACT 0.453000 26 23 0 0 0.006320 0 0 SF3A3 10946 broad.mit.edu 37 1 38447413 38447413 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:38447413G>C ENST00000373019.4 - 7 1494 c.539C>G c.(538-540)gCa>gGa p.A180G SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Missense_Mutation_p.A127G NM_006802.2 NP_006793.1 Q12874 SF3A3_HUMAN splicing factor 3a, subunit 3, 60kDa 180 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nuclear speck nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2) 12 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CTTATACTCTGCATTCTTCCT 0.353000 41 15 0 0 0.008740 0 0 ABCA13 154664 broad.mit.edu 37 7 48316083 48316083 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:48316083C>A ENST00000435803.1 + 17 6844 c.6820C>A c.(6820-6822)Ctt>Att p.L2274I NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2274 transport integral to membrane ATP binding|ATPase activity 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 ATTCTTCTCCCTTTTTCTAAA 0.343000 9 24 7.48243e-07 1.09521e-06 0.006214 1 0 POTEF 728378 broad.mit.edu 37 2 130832405 130832405 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:130832405C>A ENST00000357462.5 - 15 2733 c.2640G>T c.(2638-2640)ctG>ctT p.L880L POTEF_ENST00000409914.2_Silent_p.L880L A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 880 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 CCCGCCCAGCCAGGTCTAGGC 0.592000 18 25 3.52763e-06 5.02205e-06 0.004990 1 0 MN1 4330 broad.mit.edu 37 22 28146947 28146947 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr22:28146947C>T ENST00000302326.4 - 2 4873 c.3919G>A c.(3919-3921)Gac>Aac p.D1307N MN1_ENST00000497225.1_5'UTR NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 1307 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 TTGGAGATGTCAGAATGCAGG 0.592000 T ETV6 """AML, meningioma""" 16 24 0 0 0.004007 0 0 ABCC1 4363 broad.mit.edu 37 16 16184348 16184348 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:16184348G>T ENST00000399408.2 + 19 2722 c.2547G>T c.(2545-2547)atG>atT p.M849I ABCC1_ENST00000399410.3_Missense_Mutation_p.M849I|ABCC1_ENST00000349029.5_Missense_Mutation_p.M734I|ABCC1_ENST00000346370.5_Missense_Mutation_p.M793I|ABCC1_ENST00000345148.5_Missense_Mutation_p.M849I|ABCC1_ENST00000351154.5_Missense_Mutation_p.M790I P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 849 ABC transporter 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TCTCTGAGATGGGCTCCTACC 0.597000 6 9 2.0095e-06 2.87737e-06 0.001984 1 0 DYSF 8291 broad.mit.edu 37 2 71892314 71892314 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:71892314G>C ENST00000258104.3 + 46 5357 c.5080G>C c.(5080-5082)Gac>Cac p.D1694H DYSF_ENST00000410041.1_Missense_Mutation_p.D1712H|DYSF_ENST00000410020.3_Missense_Mutation_p.D1733H|DYSF_ENST00000409366.1_Missense_Mutation_p.D1716H|DYSF_ENST00000409651.1_Missense_Mutation_p.D1726H|DYSF_ENST00000409582.3_Missense_Mutation_p.D1732H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Missense_Mutation_p.D1695H|DYSF_ENST00000409744.1_Missense_Mutation_p.D1702H|DYSF_ENST00000429174.2_Missense_Mutation_p.D1715H|DYSF_ENST00000413539.2_Missense_Mutation_p.D1725H|DYSF_ENST00000409762.1_Missense_Mutation_p.D1711H NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1694 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CCAGTGGCGGGACCAGCTCCG 0.562000 28 69 0 0 0.002836 0 0 PAMR1 25891 broad.mit.edu 37 11 35456226 35456226 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:35456226A>G ENST00000378880.2 - 10 1905 c.1460T>C c.(1459-1461)cTa>cCa p.L487P PAMR1_ENST00000278360.3_Missense_Mutation_p.L504P|PAMR1_ENST00000532848.1_Missense_Mutation_p.L447P|PAMR1_ENST00000378878.3_Missense_Mutation_p.L376P NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 487 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 GCTGCAGACTAGGAACCACGC 0.617000 53 37 0 0 0.003610 0 0 DPY19L2 283417 broad.mit.edu 37 12 64041112 64041112 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:64041112C>G ENST00000324472.4 - 5 805 c.622G>C c.(622-624)Gga>Cga p.G208R RP11-415I12.3_ENST00000509615.2_RNA NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 208 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) TTCATTATTCCCATGAATGTG 0.318000 55 58 0 0 0.003610 0 0 CHD7 55636 broad.mit.edu 37 8 61754571 61754571 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:61754571A>T ENST00000423902.2 + 21 5289 c.4810A>T c.(4810-4812)Agt>Tgt p.S1604C CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1604 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CTATGCAAGGAGTGAATGTTT 0.443000 6 52 0 0 0.003080 0 0 USP34 9736 broad.mit.edu 37 2 61571046 61571046 + Nonsense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:61571046C>A ENST00000398571.2 - 16 2480 c.2404G>T c.(2404-2406)Gag>Tag p.E802* NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 802 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) TGAACTAGCTCCTCTTCACAT 0.398000 20 73 1.33834e-09 2.12585e-09 0.007413 1 0 TRAF3IP1 26146 broad.mit.edu 37 2 239237863 239237863 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:239237863G>T ENST00000373327.4 + 5 1017 c.795G>T c.(793-795)agG>agT p.R265S TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.R265S|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.R265S NM_015650.3 NP_056465.2 Q8TDR0 MIPT3_HUMAN TNF receptor-associated factor 3 interacting protein 1 265 Abolishes microtubules-binding when missing.|Arg-rich.|DISC1-interaction domain. cytoplasm|cytoskeleton protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2) 23 all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182) Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184) tgagagacagggaccgagagc 0.587000 5 12 0.000602214 0.000796503 0.000602 1 0 CGREF1 10669 broad.mit.edu 37 2 27327173 27327173 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:27327173G>A ENST00000402394.1 - 2 330 c.62C>T c.(61-63)cCa>cTa p.P21L CGREF1_ENST00000312734.4_Missense_Mutation_p.P21L|CGREF1_ENST00000404694.3_Missense_Mutation_p.P143L|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000260595.5_Missense_Mutation_p.P21L|CGREF1_ENST00000405600.1_Missense_Mutation_p.P21L|CGREF1_ENST00000402550.1_Missense_Mutation_p.P21L NM_006569.5 NP_006560.3 Q99674 CGRE1_HUMAN cell growth regulator with EF-hand domain 1 21 cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding p.P21Q(1) kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCATCCTTTGGGGCAGCCTG 0.562000 19 30 0 0 0.001882 0 0 SLC22A8 9376 broad.mit.edu 37 11 62766562 62766562 + Splice_Site SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:62766562C>T ENST00000336232.2 - 5 728 c.e5-1 SLC22A8_ENST00000542795.1_Splice_Site|SLC22A8_ENST00000311438.8_Splice_Site|SLC22A8_ENST00000535878.1_Splice_Site|SLC22A8_ENST00000430500.2_Splice_Site|SLC22A8_ENST00000545207.1_Splice_Site NM_001184732.1|NM_001184736.1|NM_004254.3 NP_001171661.1|NP_001171665.1|NP_004245.2 Q8TCC7 S22A8_HUMAN solute carrier family 22 (organic anion transporter), member 8 response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 CATTCCACATCTGTGGGAGGA 0.607000 13 34 0 0 0.001855 0 0 UBR4 23352 broad.mit.edu 37 1 19497254 19497254 + Splice_Site SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:19497254A>T ENST00000375267.2 - 26 3647 c.e26+1 UBR4_ENST00000375254.3_Splice_Site|UBR4_ENST00000375226.2_Splice_Site|UBR4_ENST00000375217.2_Splice_Site Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TTGTTCTCTTACCCAGAGTAT 0.423000 17 37 0 0 0.004007 0 0 CDH9 1007 broad.mit.edu 37 5 26886084 26886084 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:26886084C>A ENST00000231021.4 - 10 1793 c.1621G>T c.(1621-1623)Gat>Tat p.D541Y NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 541 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D541N(1) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CCTTTATTATCTACAATGGTG 0.303000 50 96 3.31993e-32 7.28908e-32 0.003610 1 0 FAXC 84553 broad.mit.edu 37 6 99790813 99790813 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:99790813C>A ENST00000389677.5 - 2 645 c.363G>T c.(361-363)aaG>aaT p.K121N NM_032511.2 NP_115900.1 Q5TGI0 CF168_HUMAN failed axon connections homolog (Drosophila) 121 AAGTTTCCATCTTTAAACAGA 0.353000 19 26 1.56452e-12 2.62883e-12 0.007413 1 0 CD19 930 broad.mit.edu 37 16 28947869 28947869 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:28947869C>A ENST00000538922.1 + 7 1094 c.1032C>A c.(1030-1032)ccC>ccA p.P344P CD19_ENST00000567541.1_Silent_p.P344P|CD19_ENST00000324662.3_Silent_p.P344P NM_001178098.1|NM_001770.5 NP_001171569.1|NP_001761.3 P15391 CD19_HUMAN CD19 molecule 344 cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1) 29 GAAGCGGGCCCCAGAACCAGT 0.637000 12 57 1.5842e-08 2.41915e-08 0.001855 1 0 AGAP2 116986 broad.mit.edu 37 12 58124303 58124303 + Silent SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:58124303C>G ENST00000257897.3 - 12 1480 c.1395G>C c.(1393-1395)cgG>cgC p.R465R AGAP2_ENST00000547588.1_Silent_p.R801R NM_014770.3 NP_055585.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 801 G domain. axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 GGGCCAAATTCCGGTCTGGCT 0.572000 128 195 0 0 0.003610 0 0 SLC12A5 57468 broad.mit.edu 37 20 44664148 44664148 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:44664148G>A ENST00000454036.1 + 3 398 c.322G>A c.(322-324)Gag>Aag p.E108K SLC12A5_ENST00000372315.1_Missense_Mutation_p.E85K|SLC12A5_ENST00000539566.1_Missense_Mutation_p.E85K|SLC12A5_ENST00000243964.3_Missense_Mutation_p.E85K NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 108 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity 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) AGAAAACAATGAGGGTGGAAA 0.572000 37 65 0 0 0.004878 0 0 ATP10A 57194 broad.mit.edu 37 15 25924502 25924502 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr15:25924502T>A ENST00000356865.6 - 21 4597 c.4486A>T c.(4486-4488)Agg>Tgg p.R1496W NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 1496 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TGTGACCGCCTTGAAGATGCT 0.423000 33 29 0 0 0.002836 0 0 LILRA1 11024 broad.mit.edu 37 19 55107261 55107261 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:55107261C>A ENST00000251372.3 + 6 1001 c.819C>A c.(817-819)ccC>ccA p.P273P LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron NM_006863.1 NP_006854.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 273 Ig-like C2-type 3. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GCCCACAGCCCCAGGCTGGGC 0.597000 23 47 7.87624e-14 1.36282e-13 0.002780 1 0 SKIV2L2 23517 broad.mit.edu 37 5 54649077 54649077 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:54649077G>C ENST00000230640.5 + 14 1767 c.1513G>C c.(1513-1515)Gat>Cat p.D505H SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D404H NM_015360.4 NP_056175.3 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 (S. cerevisiae) 505 Helicase C-terminal. maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) CCGCAAATTTGATGGGAAGGA 0.338000 42 9 0 0 0.002852 0 0 MYH2 4620 broad.mit.edu 37 17 10428110 10428110 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:10428110G>A ENST00000245503.5 - 34 5319 c.4935C>T c.(4933-4935)gcC>gcT p.A1645A CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.A1645A|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1645 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle 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 AGTTCCTCAGGGCCTCAGCAG 0.507000 31 55 0 0 0.002096 0 0 PAK6 56924 broad.mit.edu 37 15 40564701 40564701 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr15:40564701G>T ENST00000455577.2 + 6 2047 c.1135G>T c.(1135-1137)Ggt>Tgt p.G379C PAK6_ENST00000260404.4_Missense_Mutation_p.G379C|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_Missense_Mutation_p.G379C|PAK6_ENST00000542403.2_Missense_Mutation_p.G379C|PAK6_ENST00000560346.1_Missense_Mutation_p.G379C|PAK6_ENST00000453867.1_Missense_Mutation_p.G379C NM_001276718.1 NP_001263647.1 Q9NQU5 PAK6_HUMAN p21 protein (Cdc42/Rac)-activated kinase 6 379 Linker. ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2) 24 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) TGCCCTGGCTGGTGAGGACAC 0.647000 9 9 7.48243e-07 1.09521e-06 0.006214 1 0 TTN 7273 broad.mit.edu 37 2 179642533 179642533 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:179642533C>G ENST00000589042.1 - 25 4602 c.4378G>C c.(4378-4380)Gtg>Ctg p.V1460L TTN_ENST00000342992.6_Missense_Mutation_p.V1460L|TTN_ENST00000460472.2_Missense_Mutation_p.V1414L|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.V1460L|TTN_ENST00000359218.5_Missense_Mutation_p.V1414L|TTN_ENST00000591111.1_Missense_Mutation_p.V1460L|TTN_ENST00000342175.6_Missense_Mutation_p.V1414L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1460 Ig-like 6. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTTTTAACACAAAGACTGGT 0.448000 22 71 0 0 0.001523 0 0 GDF5 8200 broad.mit.edu 37 20 34021804 34021804 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:34021804C>A ENST00000374372.1 - 4 1912 c.1409G>T c.(1408-1410)cGg>cTg p.R470L GDF5_ENST00000374369.3_Missense_Mutation_p.R470L|GDF5OS_ENST00000374375.1_5'UTR P43026 GDF5_HUMAN growth differentiation factor 5 470 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) GGGACTCAGCCGCGTGGGCAC 0.577000 39 38 2.05212e-20 4.08769e-20 0.005524 1 0 ITIH2 3698 broad.mit.edu 37 10 7773912 7773912 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:7773912G>T ENST00000358415.4 + 13 1766 c.1600G>T c.(1600-1602)Gac>Tac p.D534Y ITIH2_ENST00000379587.4_Missense_Mutation_p.D523Y NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 534 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.D534H(1) NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 AGGAAAATTTGACCCTGCTAA 0.423000 16 47 6.49762e-13 1.10493e-12 0.006122 1 0 ESR1 2099 broad.mit.edu 37 6 152419935 152419935 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:152419935T>A ENST00000440973.1 + 10 1992 c.1622T>A c.(1621-1623)cTg>cAg p.L541Q ESR1_ENST00000456483.2_Missense_Mutation_p.L429Q|ESR1_ENST00000443427.1_Missense_Mutation_p.L541Q|ESR1_ENST00000544394.1_Intron|ESR1_ENST00000206249.3_Missense_Mutation_p.L541Q|ESR1_ENST00000338799.5_Missense_Mutation_p.L541Q|ESR1_ENST00000406599.1_Missense_Mutation_p.L280Q NM_001122742.1 NP_001116214.1 P03372 ESR1_HUMAN estrogen receptor 1 541 Interaction with AKAP13.|Steroid-binding. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) GACCTGCTGCTGGAGATGCTG 0.577000 19 21 0 0 0.001523 0 0 LAMC1 3915 broad.mit.edu 37 1 183086479 183086479 + Missense_Mutation SNP A A C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:183086479A>C ENST00000258341.4 + 9 1846 c.1589A>C c.(1588-1590)cAg>cCg p.Q530P NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 530 Laminin IV type A. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGTGCGGAACAGAGAGATGGC 0.478000 22 25 0 0 0.004656 0 0 PSME4 23198 broad.mit.edu 37 2 54146345 54146345 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:54146345C>A ENST00000404125.1 - 20 2514 c.2459G>T c.(2458-2460)tGt>tTt p.C820F PSME4_ENST00000421748.2_Intron NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 820 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GCCAATTAAACAGTTGTGCAC 0.333000 20 40 5.35356e-11 8.75714e-11 0.002780 1 0 CALCA 796 broad.mit.edu 37 11 14990442 14990442 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:14990442G>T ENST00000331587.4 - 4 447 c.329C>A c.(328-330)gCa>gAa p.A110E CALCA_ENST00000396372.2_Missense_Mutation_p.A110E|CALCA_ENST00000486207.1_Intron|CALCA_ENST00000361010.3_Intron|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000359642.3_Missense_Mutation_p.A110E NM_001741.2 NP_001732.1 P06881 CALCA_HUMAN calcitonin-related polypeptide alpha 113 activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation cytosol|extracellular space hormone activity central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 8 Phentolamine(DB00692) AACCCCAATTGCAGTTTGGGG 0.517000 54 64 2.17126e-26 4.59358e-26 0.003610 1 0 FAM76A 199870 broad.mit.edu 37 1 28087051 28087051 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:28087051A>T ENST00000373954.6 + 9 985 c.883A>T c.(883-885)Agc>Tgc p.S295C FAM76A_ENST00000419687.2_Missense_Mutation_p.S215C|FAM76A_ENST00000373949.1_Missense_Mutation_p.S266C|FAM76A_ENST00000234549.7_Missense_Mutation_p.S300C|FAM76A_ENST00000010299.6_Missense_Mutation_p.S329C NM_001143912.1|NM_152660.2 NP_001137384.1|NP_689873.1 Q8TAV0 FA76A_HUMAN family with sequence similarity 76, member A 295 endometrium(4)|kidney(2)|large_intestine(1)|lung(2) 9 Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649) TTTGTCCAAGAGCAAGAAGTC 0.458000 7 12 0 0 0.001984 0 0 SNCA 6622 broad.mit.edu 37 4 90650401 90650401 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:90650401T>A ENST00000394989.2 - 4 554 c.292A>T c.(292-294)Att>Ttt p.I98F SNCA_ENST00000394986.1_Missense_Mutation_p.I112F|SNCA_ENST00000506244.1_Missense_Mutation_p.I112F|SNCA_ENST00000505199.1_Missense_Mutation_p.I98F|SNCA_ENST00000420646.2_Intron|SNCA_ENST00000336904.3_Missense_Mutation_p.I112F|SNCA_ENST00000394991.3_Missense_Mutation_p.I112F|SNCA_ENST00000345009.4_Intron|SNCA_ENST00000508895.1_Missense_Mutation_p.I112F P37840 SYUA_HUMAN synuclein, alpha (non A4 component of amyloid precursor) 112 activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(4)|ovary(1) 8 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.42e-05) Melatonin(DB01065) TCTTCCAGAATTCCTTCCTGT 0.373000 25 7 0 0 0.007291 0 0 TMEM132D 121256 broad.mit.edu 37 12 130184559 130184559 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:130184559C>A ENST00000422113.2 - 2 1090 c.764G>T c.(763-765)aGt>aTt p.S255I NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 255 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) ATCGATGTCACTGTGGCCTGT 0.602000 13 56 0.000219431 0.000295768 0.002450 1 0 IFNAR1 3454 broad.mit.edu 37 21 34721562 34721562 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr21:34721562G>T ENST00000270139.3 + 7 1106 c.954G>T c.(952-954)tgG>tgT p.W318C IFNAR1_ENST00000416947.2_Missense_Mutation_p.W249C|IFNAR1_ENST00000442357.2_Missense_Mutation_p.W318C NM_000629.2 NP_000620.2 P17181 INAR1_HUMAN interferon (alpha, beta and omega) receptor 1 318 Fibronectin type-III 2. JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway integral to plasma membrane type I interferon receptor activity breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2) 14 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) CATCTTTTTGGTCTGAAGAGA 0.343000 47 9 3.21987e-24 6.61379e-24 0.003610 1 0 ZAN 7455 broad.mit.edu 37 7 100385716 100385716 + RNA SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:100385716C>T ENST00000542585.1 + 0 7330 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TTACCACCGTCTACGGCTATA 0.607000 49 5 0 0 0.003610 0 0 SLC7A2 6542 broad.mit.edu 37 8 17401089 17401089 + Missense_Mutation SNP A A C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:17401089A>C ENST00000470360.1 + 4 478 c.361A>C c.(361-363)Atg>Ctg p.M121L SLC7A2_ENST00000494857.1_Missense_Mutation_p.M81L|SLC7A2_ENST00000398090.3_Missense_Mutation_p.M121L|SLC7A2_ENST00000522656.1_Missense_Mutation_p.M81L|SLC7A2_ENST00000004531.10_Missense_Mutation_p.M121L P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 81 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) GGCTTCAGTGATGGCTGGCCT 0.607000 12 26 0 0 0.000978 0 0 OR5F1 338674 broad.mit.edu 37 11 55761952 55761952 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:55761952C>A ENST00000278409.1 - 1 149 c.150G>T c.(148-150)agG>agT p.R50S NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) GGGAATCGATCCTGATTAAGA 0.438000 12 48 0.00136819 0.00179757 0.001368 1 0 CSPP1 79848 broad.mit.edu 37 8 68044212 68044212 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:68044212A>G ENST00000262210.5 + 14 1740 c.1709A>G c.(1708-1710)aAg>aGg p.K570R CSPP1_ENST00000412460.1_Missense_Mutation_p.K276R NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 605 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) AATGAACTGAAGATTACAAGT 0.338000 49 110 0 0 0.003610 0 0 USP28 57646 broad.mit.edu 37 11 113673938 113673938 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:113673938C>A ENST00000003302.4 - 23 2872 c.2804G>T c.(2803-2805)gGg>gTg p.G935V USP28_ENST00000260188.5_Missense_Mutation_p.G903V|USP28_ENST00000545540.1_Missense_Mutation_p.G778V|USP28_ENST00000544967.1_Missense_Mutation_p.G611V NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 935 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) CCGGCGGGGCCCCTTCATCAG 0.458000 18 60 1.56452e-12 2.62883e-12 0.007413 1 0 DNER 92737 broad.mit.edu 37 2 230253070 230253070 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:230253070G>T ENST00000341772.4 - 11 1900 c.1766C>A c.(1765-1767)cCc>cAc p.P589H NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 589 EGF-like 10; calcium-binding (Potential). central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) ATGGTGGCAGGGGTTACTGTC 0.502000 29 85 5.45727e-16 1.00593e-15 0.008361 1 0 SLC4A3 6508 broad.mit.edu 37 2 220505593 220505593 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:220505593C>A ENST00000358055.3 + 22 4042 c.3530C>A c.(3529-3531)gCc>gAc p.A1177D SLC4A3_ENST00000317151.3_Missense_Mutation_p.A1177D|SLC4A3_ENST00000373760.2_Missense_Mutation_p.A1177D|SLC4A3_ENST00000373762.3_Missense_Mutation_p.A1204D|SLC4A3_ENST00000273063.6_Missense_Mutation_p.A1204D P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 1177 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCACGGCGGCCTCACTCGCC 0.642000 5 32 1.23904e-05 1.72906e-05 0.000602 1 0 ZFYVE26 23503 broad.mit.edu 37 14 68222835 68222835 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:68222835C>A ENST00000347230.4 - 36 6754 c.6616G>T c.(6616-6618)Ggc>Tgc p.G2206C ZFYVE26_ENST00000557306.1_Missense_Mutation_p.G52C NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2206 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TGGAAAATGCCTTCTATAAAA 0.473000 250 69 2.1762e-106 5.10709e-106 0.003610 1 0 EBF1 1879 broad.mit.edu 37 5 158250262 158250262 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:158250262C>A ENST00000313708.6 - 8 982 c.700G>T c.(700-702)Gtc>Ttc p.V234F EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.V211F|EBF1_ENST00000517373.1_Missense_Mutation_p.V234F NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 234 multicellular organismal development nucleus DNA binding|metal ion binding 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) TTATTATGGACAAACATGTTA 0.468000 T HMGA2 lipoma 25 10 3.08376e-08 4.68732e-08 0.003330 1 0 OR2T12 127064 broad.mit.edu 37 1 248458340 248458340 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:248458340C>T ENST00000317996.1 - 1 540 c.541G>A c.(541-543)Gtg>Atg p.V181M NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V181M(1) endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 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;0.0201) CGCACCAACACGGGGGCCTCG 0.562000 21 43 0 0 0.001882 0 0 ITIH1 3697 broad.mit.edu 37 3 52812520 52812520 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:52812520C>A ENST00000273283.2 + 3 327 c.303C>A c.(301-303)gcC>gcA p.A101A ITIH1_ENST00000542827.1_Silent_p.A101A NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 101 VIT. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) GTGACTTTGCCGTGTGCGTGC 0.547000 34 8 8.73648e-17 1.63169e-16 0.004289 1 0 TMEM136 219902 broad.mit.edu 37 11 120198194 120198194 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:120198194G>T ENST00000375095.2 + 2 285 c.44G>T c.(43-45)gGc>gTc p.G15V TMEM136_ENST00000529187.1_Missense_Mutation_p.G37V|TMEM136_ENST00000314475.2_Missense_Mutation_p.G37V|TMEM136_ENST00000531346.1_Intron NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1 NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1 Q6ZRR5 TM136_HUMAN transmembrane protein 136 15 integral to membrane endometrium(1)|lung(2)|ovary(1) 4 Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.07e-06) AGCCTGTGTGGCTGGCTCTCG 0.498000 23 36 3.62473e-10 5.86127e-10 0.001882 1 0 PAPPA 5069 broad.mit.edu 37 9 118949571 118949571 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:118949571T>C ENST00000328252.3 + 2 923 c.554T>C c.(553-555)aTc>aCc p.I185T NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 185 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GTGACCACCATCAATGCCCAC 0.557000 18 74 0 0 0.002780 0 0 NLRP8 126205 broad.mit.edu 37 19 56466135 56466135 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:56466135C>A ENST00000291971.3 + 3 782 c.711C>A c.(709-711)cgC>cgA p.R237R NLRP8_ENST00000590542.1_Silent_p.R237R NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 237 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CCCACAAGCGCTGGTGTGCTT 0.532000 32 42 1.61788e-16 2.999e-16 0.002445 1 0 SYMPK 8189 broad.mit.edu 37 19 46357498 46357498 + Splice_Site SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:46357498C>A ENST00000245934.7 - 3 350 c.105_splice c.e3-1 p.V36_splice NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 36 Interaction with HSF1. cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) AGATCCACCACCTGGAAGGAG 0.632000 10 23 6.40141e-05 8.77197e-05 0.000978 1 0 MAGI3 260425 broad.mit.edu 37 1 114186388 114186388 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:114186388G>T ENST00000369615.1 + 11 2052 c.1990G>T c.(1990-1992)Gcc>Tcc p.A664S MAGI3_ENST00000369611.4_Missense_Mutation_p.A664S|MAGI3_ENST00000307546.9_Missense_Mutation_p.A664S|MAGI3_ENST00000369617.4_Missense_Mutation_p.A689S NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 689 PDZ 3. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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) AACCAAAACTGCCAAAATGGT 0.413000 33 63 3.62531e-18 6.91468e-18 0.004289 1 0 PCED1B 91523 broad.mit.edu 37 12 47629611 47629611 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:47629611G>A ENST00000546455.1 + 4 1496 c.765G>A c.(763-765)gaG>gaA p.E255E PCED1B_ENST00000432328.1_Silent_p.E255E PC-esterase domain containing 1B GGGGTGTGGAGCTGCCCCACC 0.667000 4 8 0 0 0.000248 0 0 QARS 5859 broad.mit.edu 37 3 49135913 49135913 + Splice_Site SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:49135913C>A ENST00000306125.6 - 21 2294 c.1956_splice c.e21-1 p.G653_splice QARS_ENST00000414533.1_Splice_Site_p.G642_splice P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 653 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) CCACTGGGGCCCTGGAAGTGG 0.572000 30 11 2.85442e-18 5.49739e-18 0.002096 1 0 MED13 9969 broad.mit.edu 37 17 60072552 60072552 + Missense_Mutation SNP A A C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:60072552A>C ENST00000397786.2 - 10 2218 c.2142T>G c.(2140-2142)gaT>gaG p.D714E NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 714 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TATTTTGTCTATCTTTTTTAT 0.358000 15 61 0 0 0.004007 0 0 WDR66 144406 broad.mit.edu 37 12 122395035 122395035 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:122395035T>C ENST00000288912.4 + 11 2445 c.1591T>C c.(1591-1593)Tct>Cct p.S531P WDR66_ENST00000397454.2_Missense_Mutation_p.S531P NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 531 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) TCACACCCTGTCTATTGTTAA 0.393000 46 34 0 0 0.003610 0 0 GRM8 2918 broad.mit.edu 37 7 126086158 126086158 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:126086158G>A ENST00000358373.3 - 10 3262 c.2699C>T c.(2698-2700)cCg>cTg p.P900L GRM8_ENST00000339582.2_Intron|GRM8_ENST00000444921.2_Intron NM_001127323.1 NP_001120795.1 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 0 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CTTGACCATCGGAAACTCTAC 0.443000 HNSCC(24;0.065) 31 112 0 0 0.003271 0 0 ORC3 23595 broad.mit.edu 37 6 88344667 88344667 + Silent SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:88344667A>T ENST00000392844.3 + 12 1338 c.1290A>T c.(1288-1290)ccA>ccT p.P430P ORC3_ENST00000417380.2_Silent_p.P377P|ORC3_ENST00000546266.1_Silent_p.P287P|ORC3_ENST00000257789.4_Silent_p.P430P NM_012381.3|NM_181837.2 NP_036513.2|NP_862820.1 Q9UBD5 ORC3_HUMAN origin recognition complex, subunit 3 430 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 28 CCAAGTATCCACTAGGTCGAC 0.363000 21 62 0 0 0.002780 0 0 LARS 51520 broad.mit.edu 37 5 145531495 145531495 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:145531495T>C ENST00000394434.2 - 14 1521 c.1355A>G c.(1354-1356)cAg>cGg p.Q452R LARS_ENST00000274562.9_Missense_Mutation_p.Q425R|LARS_ENST00000510191.1_Missense_Mutation_p.Q398R|LARS_ENST00000545646.1_Missense_Mutation_p.Q406R NM_020117.9 NP_064502.9 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 452 Editing domain. leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) ATTCTGGCTCTGAATTTTCAA 0.363000 156 31 0 0 0.003610 0 0 CDC37 11140 broad.mit.edu 37 19 10504034 10504034 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:10504034G>A ENST00000222005.2 - 6 863 c.810C>T c.(808-810)cgC>cgT p.R270R NM_007065.3 NP_008996.1 Q16543 CDC37_HUMAN cell division cycle 37 270 protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway unfolded protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06) GBM - Glioblastoma multiforme(1328;0.0318) CCTTCTCGATGCGCAGCTTGG 0.657000 55 5 0 0 0.003610 0 0 GDNF 2668 broad.mit.edu 37 5 37815911 37815911 + Silent SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:37815911A>G ENST00000326524.2 - 3 677 c.478T>C c.(478-480)Ttg>Ctg p.L160L GDNF_ENST00000344622.4_Silent_p.L134L|GDNF_ENST00000515058.1_Silent_p.L134L|GDNF_ENST00000427982.1_Silent_p.L177L|GDNF_ENST00000381826.4_Silent_p.L151L NM_000514.3 NP_000505.1 P39905 GDNF_HUMAN glial cell derived neurotrophic factor 160 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2) 15 all_lung(31;0.00118) AAGTTTTTCAATATTTTGTCG 0.458000 52 135 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 8968943 8968943 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:8968943T>A ENST00000397910.4 - 80 43276 c.43073A>T c.(43072-43074)aAc>aTc p.N14358I MUC16_ENST00000380951.5_Missense_Mutation_p.N999I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 14454 SEA 15. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAAGAGTTGGTTGAGCTGAAA 0.438000 6 11 0 0 0.001168 0 0 TTC23L 153657 broad.mit.edu 37 5 34845695 34845695 + Nonsense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:34845695A>T ENST00000505624.1 + 3 275 c.172A>T c.(172-174)Aag>Tag p.K58* TTC23L_ENST00000514080.1_3'UTR NM_144725.3 NP_653326.3 Q6PF05 TT23L_HUMAN tetratricopeptide repeat domain 23-like 58 binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1) 22 AGAGAAGGAGAAGGCCATAGA 0.433000 15 62 0 0 0.004990 0 0 FLG 2312 broad.mit.edu 37 1 152283392 152283392 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:152283392C>T ENST00000368799.1 - 3 4005 c.3970G>A c.(3970-3972)Gac>Aac p.D1324N FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1324 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGAGCTGTCTGCAGAGTGC 0.522000 Ichthyosis 196 218 0 0 0.003610 0 0 OVCH1 341350 broad.mit.edu 37 12 29642559 29642559 + Silent SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:29642559G>C ENST00000318184.5 - 6 695 c.696C>G c.(694-696)gcC>gcG p.A232A NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 232 Peptidase S1 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) GTACCTGGCAGGCGTCCATTC 0.493000 8 8 0 0 0.004482 0 0 IQCD 115811 broad.mit.edu 37 12 113645859 113645859 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:113645859A>G ENST00000546692.1 - 2 486 c.113T>C c.(112-114)gTt>gCt p.V38A IQCD_ENST00000416617.2_Missense_Mutation_p.V38A|IQCD_ENST00000299732.2_Missense_Mutation_p.V38A Q96DY2 IQCD_HUMAN IQ motif containing D 38 endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 CCTAGAGAGAACCAAGGGTTT 0.512000 67 143 0 0 0.003610 0 0 ZNF341 84905 broad.mit.edu 37 20 32357916 32357916 + Nonsense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:32357916T>A ENST00000375200.1 + 10 1805 c.1440T>A c.(1438-1440)tgT>tgA p.C480* ZNF341_ENST00000342427.2_Nonsense_Mutation_p.C473* Q9BYN7 ZN341_HUMAN zinc finger protein 341 480 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 TCAAAAGCTGTGCCCAGACGT 0.592000 11 40 0 0 0.008291 0 0 ZNF93 81931 broad.mit.edu 37 19 20044023 20044023 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:20044023C>A ENST00000343769.5 + 4 287 c.259C>A c.(259-261)Cca>Aca p.P87T AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 87 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 24 AGATCTTTGGCCAGAGCAGAA 0.303000 11 21 2.80697e-09 4.42311e-09 0.000978 1 0 PRSS58 136541 broad.mit.edu 37 7 141954941 141954941 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:141954941A>T ENST00000552471.1 - 3 689 c.370T>A c.(370-372)Tac>Aac p.Y124N PRSS58_ENST00000547058.2_Missense_Mutation_p.Y124N Q8IYP2 PRS58_HUMAN protease, serine, 58 124 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 ATAGTTTGGTAGGGCAGGTTG 0.403000 160 19 0 0 0.003610 0 0 SYCP2 10388 broad.mit.edu 37 20 58461890 58461890 + Splice_Site SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:58461890C>T ENST00000357552.3 - 25 2590 c.e25-1 SYCP2_ENST00000371001.2_Splice_Site Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) ACTTTTCTCTCTGAAAAAAAT 0.269000 24 27 0 0 0.002299 0 0 RNF207 388591 broad.mit.edu 37 1 6269998 6269998 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:6269998G>A ENST00000377939.4 + 8 895 c.768G>A c.(766-768)gaG>gaA p.E256E RNF207_ENST00000377948.2_Silent_p.E29E NM_207396.2 NP_997279.2 Q6ZRF8 RN207_HUMAN ring finger protein 207 256 intracellular zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2) 16 Ovarian(185;0.0634) all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) GGCTGGCAGAGAGGAAAGCGC 0.662000 25 30 0 0 0.005443 0 0 NINL 22981 broad.mit.edu 37 20 25450719 25450719 + Silent SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:25450719A>G ENST00000278886.6 - 18 3334 c.3261T>C c.(3259-3261)caT>caC p.H1087H NINL_ENST00000422516.1_Silent_p.H738H NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 1087 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 CAGAAAGTCTATGGAACTCCA 0.507000 OREG0025846 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 68 120 0 0 0.003610 0 0 TLL1 7092 broad.mit.edu 37 4 166986864 166986864 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:166986864G>T ENST00000061240.2 + 16 2684 c.2037G>T c.(2035-2037)tgG>tgT p.W679C TLL1_ENST00000507499.1_Missense_Mutation_p.W702C NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 679 CUB 3. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TGGAGATCTGGAGTGGTCTTT 0.373000 45 18 4.01344e-20 7.94645e-20 0.003610 1 0 DCDC1 341019 broad.mit.edu 37 11 31125268 31125268 + Silent SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:31125268T>C ENST00000597505.1 - 12 1799 c.1800A>G c.(1798-1800)gcA>gcG p.A600A DCDC1_ENST00000437348.1_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CTCTGGCAAATGCACTCACTC 0.368000 57 25 0 0 0.003610 0 0 SYTL2 54843 broad.mit.edu 37 11 85435727 85435727 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:85435727T>A ENST00000359152.5 - 1 3344 c.3345A>T c.(3343-3345)ttA>ttT p.L1115F SYTL2_ENST00000525423.1_Missense_Mutation_p.L591F|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.L591F|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000528231.1_Intron NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 0 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TCTCAGTTATTAACGGAGCCT 0.438000 47 31 0 0 0.003610 0 0 CUBN 8029 broad.mit.edu 37 10 17087992 17087992 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:17087992T>C ENST00000377833.4 - 24 3496 c.3431A>G c.(3430-3432)aAg>aGg p.K1144R NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1144 CUB 6. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTGGTCACTCTTAAATTTTAA 0.398000 25 50 0 0 0.004656 0 0 C9orf131 138724 broad.mit.edu 37 9 35043482 35043482 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:35043482C>A ENST00000312292.5 + 2 903 c.856C>A c.(856-858)Ctc>Atc p.L286I C9orf131_ENST00000354479.5_Missense_Mutation_p.L213I|C9orf131_ENST00000421362.2_Missense_Mutation_p.L238I NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 286 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) ATCACTACTCCTCCATCTGAG 0.567000 62 45 9.59835e-30 2.07509e-29 0.003610 1 0 LPHN3 23284 broad.mit.edu 37 4 62598529 62598529 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:62598529C>A ENST00000512091.1 + 7 1199 c.452C>A c.(451-453)tCc>tAc p.S151Y LPHN3_ENST00000514996.1_Missense_Mutation_p.S151Y|LPHN3_ENST00000506746.1_Missense_Mutation_p.S219Y|LPHN3_ENST00000506700.1_Missense_Mutation_p.S151Y|LPHN3_ENST00000506720.1_Missense_Mutation_p.S219Y|LPHN3_ENST00000507164.1_Missense_Mutation_p.S219Y|LPHN3_ENST00000514157.1_Missense_Mutation_p.S151Y|LPHN3_ENST00000507625.1_Missense_Mutation_p.S219Y|LPHN3_ENST00000504896.1_Missense_Mutation_p.S151Y|LPHN3_ENST00000514591.1_Missense_Mutation_p.S151Y|LPHN3_ENST00000508693.1_Missense_Mutation_p.S219Y|LPHN3_ENST00000509896.1_Missense_Mutation_p.S219Y|LPHN3_ENST00000508946.1_Missense_Mutation_p.S151Y|LPHN3_ENST00000511324.1_Missense_Mutation_p.S219Y|LPHN3_ENST00000545650.1_Missense_Mutation_p.S151Y Q9HAR2 LPHN3_HUMAN latrophilin 3 151 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TTGTTTGAGTCCGACCACCAA 0.408000 5 3 0.00116845 0.00153718 0.001168 1 0 SOX5 6660 broad.mit.edu 37 12 23728774 23728774 + Splice_Site SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:23728774T>A ENST00000546136.1 - 9 1128 c.e9-2 SOX5_ENST00000309359.1_Splice_Site|SOX5_ENST00000396007.2_Splice_Site|SOX5_ENST00000537393.1_Splice_Site|SOX5_ENST00000451604.2_Splice_Site|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000545921.1_Splice_Site P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 CACTTCATCCTGCAATGATCA 0.453000 14 43 0 0 0.002450 0 0 MS4A1 931 broad.mit.edu 37 11 60230578 60230578 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:60230578T>A ENST00000534668.1 + 3 552 c.263T>A c.(262-264)cTc>cAc p.L88H MS4A1_ENST00000389939.2_Missense_Mutation_p.L88H|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000532073.1_Missense_Mutation_p.L88H|MS4A1_ENST00000345732.4_Missense_Mutation_p.L88H NM_152866.2 NP_690605.1 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 1 88 B cell activation|immune response integral to plasma membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) TGGTACCCTCTCTGGGGAGGC 0.478000 27 82 0 0 0.001786 0 0 ZNF268 10795 broad.mit.edu 37 12 133779036 133779036 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:133779036G>T ENST00000536435.2 + 6 1094 c.764G>T c.(763-765)gGa>gTa p.G255V ZNF268_ENST00000537565.1_Missense_Mutation_p.G94V|ZNF268_ENST00000228289.5_Missense_Mutation_p.G255V|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000542711.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR NM_001165885.1|NM_003415.2 NP_001159357.1|NP_003406.1 Q14587 ZN268_HUMAN zinc finger protein 268 255 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1) 24 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000215)|all_epithelial(31;0.096) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) ATTGAATCTGGAAAAACCGTC 0.368000 6 10 0.00198382 0.00258918 0.001984 1 0 PRODH 5625 broad.mit.edu 37 22 18918567 18918567 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr22:18918567C>T ENST00000357068.6 - 2 683 c.418G>A c.(418-420)Gcc>Acc p.A140T PRODH_ENST00000334029.2_Missense_Mutation_p.A32T|PRODH_ENST00000420436.1_Missense_Mutation_p.A32T NM_016335.4 NP_057419.4 O43272 PROD_HUMAN proline dehydrogenase (oxidase) 1 140 glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process mitochondrial inner membrane|mitochondrial matrix proline dehydrogenase activity breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1) 9 L-Proline(DB00172) TCCAGGATGGCGCTGACACCG 0.597000 11 48 0 0 0.008291 0 0 LOC146880 146880 broad.mit.edu 37 17 62750587 62750587 + RNA SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:62750587T>C ENST00000400873.3 - 0 2026 NR_026899.1 GATTCACAACTTGCTGTATCT 0.428000 80 83 0 0 0.003610 0 0 PADI2 11240 broad.mit.edu 37 1 17413136 17413136 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:17413136C>A ENST00000444885.2 - 5 551 c.470G>T c.(469-471)tGg>tTg p.W157L PADI2_ENST00000375481.1_Silent_p.V238V|PADI2_ENST00000375486.4_Silent_p.V238V Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 0 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) TGTACTTGACCACATGGTAGA 0.607000 25 18 2.48779e-11 4.11715e-11 0.005443 1 0 PCDHA11 56138 broad.mit.edu 37 5 140250330 140250330 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:140250330G>T ENST00000398640.2 + 1 1642 c.1642G>T c.(1642-1644)Gtg>Ttg p.V548L PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCAGCAACGTGACGCTGCA 0.657000 70 31 1.356e-25 2.81456e-25 0.003610 1 0 PSD 5662 broad.mit.edu 37 10 104176638 104176638 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:104176638G>A ENST00000020673.5 - 2 684 c.158C>T c.(157-159)cCa>cTa p.P53L PSD_ENST00000406432.1_Missense_Mutation_p.P53L|PSD_ENST00000492902.2_5'UTR NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 53 Pro-rich. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) TCGAGGACCTGGACCTGCCAC 0.697000 6 18 0 0 0.003080 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685292 125685292 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:125685292G>T ENST00000371126.1 - 1 1542 c.1300C>A c.(1300-1302)Cac>Aac p.H434N NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 434 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 TTGTAGCAGTGGGTGTAGAGC 0.557000 56 19 3.40343e-31 7.45584e-31 0.003610 1 0 OSGIN1 29948 broad.mit.edu 37 16 83999445 83999445 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:83999445A>G ENST00000343939.2 + 7 1899 c.1516A>G c.(1516-1518)Aag>Gag p.K506E OSGIN1_ENST00000393306.1_Missense_Mutation_p.K423E|OSGIN1_ENST00000361711.3_Missense_Mutation_p.K423E Q9UJX0 OSGI1_HUMAN oxidative stress induced growth inhibitor 1 506 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 GCTGAGCGCCAAGAGGAACCC 0.662000 33 17 0 0 0.006230 0 0 BPIFB4 149954 broad.mit.edu 37 20 31671678 31671678 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:31671678G>T ENST00000375483.3 + 3 675 c.675G>T c.(673-675)acG>acT p.T225T NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 225 Gly-rich. cytoplasm|extracellular region lipid binding AAGGCATCACGGGGTAAGGAG 0.627000 26 44 5.61819e-17 1.05328e-16 0.005443 1 0 BOD1L1 259282 broad.mit.edu 37 4 13601180 13601180 + Silent SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:13601180T>C ENST00000040738.5 - 10 7479 c.7344A>G c.(7342-7344)ggA>ggG p.G2448G NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2448 DNA binding TCTCTTTCTGTCCTCTTCCTG 0.483000 OREG0016115 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 33 0 0 0.007413 0 0 FAM47A 158724 broad.mit.edu 37 X 34149869 34149869 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:34149869G>T ENST00000346193.3 - 1 578 c.527C>A c.(526-528)cCc>cAc p.P176H NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 176 Pro-rich. NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 AGGCTCAGTGGGTACCTCTGT 0.582000 34 6 5.91797e-21 1.18599e-20 0.002445 1 0 DIAPH3 81624 broad.mit.edu 37 13 60616906 60616906 + Nonsense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr13:60616906C>A ENST00000400324.4 - 5 764 c.544G>T c.(544-546)Gag>Tag p.E182* DIAPH3-AS1_ENST00000422052.1_RNA|DIAPH3_ENST00000400320.1_Nonsense_Mutation_p.E136*|DIAPH3_ENST00000377908.2_Nonsense_Mutation_p.E171*|DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3_ENST00000400319.1_Nonsense_Mutation_p.E112*|DIAPH3-AS1_ENST00000432995.1_RNA|DIAPH3_ENST00000400330.1_Nonsense_Mutation_p.E182*|DIAPH3_ENST00000267215.4_Nonsense_Mutation_p.E182* NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 182 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) ATTTTCAGCTCATGAATGAAT 0.408000 9 34 7.48243e-07 1.09521e-06 0.006214 1 0 LRP1 4035 broad.mit.edu 37 12 57573738 57573738 + Splice_Site SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:57573738G>T ENST00000243077.3 + 30 5606 c.5141_splice c.e30+1 p.G1714_splice NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1714 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCCTCTGCGTGGGTCAGTCTA 0.637000 49 76 1.86633e-21 3.75547e-21 0.003610 1 0 PAPPA2 60676 broad.mit.edu 37 1 176526293 176526293 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:176526293C>A ENST00000367662.3 + 2 1999 c.835C>A c.(835-837)Ctg>Atg p.L279M PAPPA2_ENST00000367661.3_Missense_Mutation_p.L279M NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 279 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TCCAGAAGTGCTGGCTGAGAT 0.582000 13 20 7.03913e-09 1.09178e-08 0.001368 1 0 OR6Y1 391112 broad.mit.edu 37 1 158517333 158517333 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:158517333G>T ENST00000302617.3 - 1 562 c.563C>A c.(562-564)cCa>cAa p.P188Q NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 188 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) GTTAAGGAGTGGAGAGATATC 0.458000 19 26 1.45105e-14 2.5878e-14 0.006122 1 0 UGT1A3 54659 broad.mit.edu 37 2 234638412 234638412 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:234638412A>T ENST00000482026.1 + 1 659 c.640A>T c.(640-642)Atg>Ttg p.M214L UGT1A6_ENST00000406651.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron NM_019093.2 NP_061966.1 breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 46 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) GGTCAAGAACATGCTCTACCC 0.463000 58 139 0 0 0.003610 0 0 LHX8 431707 broad.mit.edu 37 1 75622645 75622645 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:75622645C>A ENST00000294638.5 + 9 1542 c.878C>A c.(877-879)cCa>cAa p.P293Q LHX8_ENST00000356261.3_Missense_Mutation_p.P283Q NM_001001933.1 NP_001001933.1 Q68G74 LHX8_HUMAN LIM homeobox 8 293 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1) 30 TCCTCCACCCCAGTCACAGCA 0.512000 21 109 4.35082e-09 6.81237e-09 0.001523 1 0 SLITRK2 84631 broad.mit.edu 37 X 144904472 144904472 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:144904472G>T ENST00000370490.1 + 1 4784 c.529G>T c.(529-531)Gtg>Ttg p.V177L SLITRK2_ENST00000434188.2_Missense_Mutation_p.V177L|SLITRK2_ENST00000428560.2_Missense_Mutation_p.V177L|SLITRK2_ENST00000447897.2_Missense_Mutation_p.V177L|SLITRK2_ENST00000413937.2_Missense_Mutation_p.V177L Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 177 integral to membrane 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) GCCCAGCAATGTGTTCCGCTT 0.483000 31 9 2.80507e-11 4.61902e-11 0.002445 1 0 DHX34 9704 broad.mit.edu 37 19 47876150 47876150 + Silent SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:47876150G>C ENST00000328771.4 + 8 2281 c.1932G>C c.(1930-1932)acG>acC p.T644T NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 644 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) ACCCCTTCACGCTCTTCAACG 0.677000 11 16 0 0 0.002450 0 0 R3HCC1L 27291 broad.mit.edu 37 10 99968119 99968119 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:99968119G>T ENST00000298999.3 + 5 551 c.248G>T c.(247-249)aGa>aTa p.R83I R3HCC1L_ENST00000370584.3_Missense_Mutation_p.R83I|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron NM_014472.4 NP_055287.4 R3H domain and coiled-coil containing 1-like CATAATTGTAGAGAAGAAAAG 0.343000 27 92 6.32553e-13 1.07752e-12 0.004656 1 0 FAM74A3 728495 broad.mit.edu 37 9 40715911 40715911 + RNA SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:40715911G>T ENST00000604146.1 + 0 250 NR_026801.1 endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GGCTGTCCCGGAGAAGACGTG 0.562000 4 17 3.59834e-05 4.9653e-05 0.001168 1 0 MAGEB2 4113 broad.mit.edu 37 X 30237129 30237129 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:30237129G>T ENST00000378988.4 + 2 533 c.432G>T c.(430-432)agG>agT p.R144S NM_002364.4 NP_002355.2 O15479 MAGB2_HUMAN melanoma antigen family B, 2 144 MAGE. protein binding breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 TTGGCAAAAGGTTCAGGGAGC 0.458000 7 8 0.00198382 0.00258918 0.001984 1 0 SLC22A12 116085 broad.mit.edu 37 11 64359072 64359072 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:64359072G>T ENST00000377574.1 + 1 791 c.44G>T c.(43-45)aGg>aTg p.R15M SLC22A12_ENST00000377567.2_Missense_Mutation_p.R15M|SLC22A12_ENST00000377572.1_Missense_Mutation_p.R15M|SLC22A12_ENST00000473690.1_Intron|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R15M NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 15 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 GGCCTGGGCAGGTTCCAGGTT 0.617000 8 117 7.48243e-07 1.09521e-06 0.006214 1 0 EEF1B2 1933 broad.mit.edu 37 2 207027263 207027263 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:207027263G>T ENST00000392222.2 + 5 823 c.448G>T c.(448-450)Gat>Tat p.D150Y EEF1B2_ENST00000392221.1_Missense_Mutation_p.D150Y|EEF1B2_ENST00000236957.5_Missense_Mutation_p.D150Y NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 150 cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 GAAACCTTGGGATGATGAGAC 0.388000 137 106 1.02459e-47 2.35967e-47 0.003610 1 0 SLC6A5 9152 broad.mit.edu 37 11 20622673 20622673 + Splice_Site SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:20622673A>T ENST00000525748.1 + 2 276 c.e2-1 NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) TTGTGTTTGCAGGATTGCAGT 0.532000 4 9 0 0 0.000602 0 0 TGFBR3 7049 broad.mit.edu 37 1 92161253 92161253 + Silent SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:92161253A>G ENST00000212355.4 - 16 2878 c.2413T>C c.(2413-2415)Ttg>Ctg p.L805L TGFBR3_ENST00000370399.2_Silent_p.L804L|TGFBR3_ENST00000525962.1_Silent_p.L805L NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 805 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) ATGTACCACAAGGCCCCCGTC 0.478000 19 59 0 0 0.001882 0 0 MYH2 4620 broad.mit.edu 37 17 10426870 10426870 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:10426870C>G ENST00000245503.5 - 37 5799 c.5415G>C c.(5413-5415)gaG>gaC p.E1805D CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1805D|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1805 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle 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 GCTGCTCAGCCTCATCCAGAC 0.567000 73 28 0 0 0.003610 0 0 LOC494141 494141 broad.mit.edu 37 11 18231335 18231335 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:18231335C>T ENST00000527059.1 + 1 581 c.121C>T c.(121-123)Cat>Tat p.H41Y RP11-113D6.10_ENST00000534640.1_Missense_Mutation_p.H41Y|RP11-113D6.10_ENST00000340135.3_Missense_Mutation_p.H41Y TGAAATGAAGCATTACTTGTG 0.428000 28 61 0 0 0.007291 0 0 EEF1B2 1933 broad.mit.edu 37 2 207027262 207027262 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:207027262G>T ENST00000392222.2 + 5 822 c.447G>T c.(445-447)tgG>tgT p.W149C EEF1B2_ENST00000392221.1_Missense_Mutation_p.W149C|EEF1B2_ENST00000236957.5_Missense_Mutation_p.W149C NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 149 cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 TGAAACCTTGGGATGATGAGA 0.393000 139 104 4.28481e-47 9.8451e-47 0.003610 1 0 MYOC 4653 broad.mit.edu 37 1 171621301 171621301 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:171621301C>A ENST00000037502.5 - 1 510 c.451G>T c.(451-453)Gtt>Ttt p.V151F NM_000261.1 NP_000252.1 Q99972 MYOC_HUMAN myocilin, trabecular meshwork inducible glucocorticoid response 151 anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TCCTCCAGAACTGACTTGTCT 0.577000 101 144 1.41219e-46 3.23722e-46 0.003610 1 0 NOS1 4842 broad.mit.edu 37 12 117768862 117768862 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:117768862T>C ENST00000317775.6 - 2 698 c.13A>G c.(13-15)Atg>Gtg p.M5V NOS1_ENST00000344089.3_Missense_Mutation_p.M5V|NOS1_ENST00000338101.4_Missense_Mutation_p.M5V NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 5 Interaction with NOSIP (By similarity). multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) ACACCGAACATGTGATCCTCC 0.517000 32 69 0 0 0.005524 0 0 USP28 57646 broad.mit.edu 37 11 113673937 113673937 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:113673937C>A ENST00000003302.4 - 23 2873 c.2805G>T c.(2803-2805)ggG>ggT p.G935G USP28_ENST00000260188.5_Silent_p.G903G|USP28_ENST00000545540.1_Silent_p.G778G|USP28_ENST00000544967.1_Silent_p.G611G NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 935 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) CCCGGCGGGGCCCCTTCATCA 0.458000 16 62 2.35188e-11 3.89876e-11 0.006122 1 0 MXRA5 25878 broad.mit.edu 37 X 3239833 3239833 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:3239833G>T ENST00000217939.6 - 5 4047 c.3893C>A c.(3892-3894)aCc>aAc p.T1298N NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1298 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TTTTCTGGTGGTTGTCATGTA 0.373000 76 14 3.33186e-49 7.69129e-49 0.003610 1 0 LRRC43 254050 broad.mit.edu 37 12 122676103 122676103 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:122676103G>A ENST00000339777.4 + 6 1106 c.1078G>A c.(1078-1080)Gtc>Atc p.V360I LRRC43_ENST00000425921.1_Missense_Mutation_p.V175I NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 360 Glu-rich. NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) GTCCGCGGGCGTCCTGGCCGA 0.517000 OREG0022219 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 47 0 0 0.003330 0 0 ZNF623 9831 broad.mit.edu 37 8 144733608 144733608 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:144733608G>T ENST00000501748.2 + 1 1655 c.1566G>T c.(1564-1566)ttG>ttT p.L522F ZNF623_ENST00000526926.1_Missense_Mutation_p.L482F|ZNF623_ENST00000458270.2_Missense_Mutation_p.L482F NM_014789.3 NP_055604.3 O75123 ZN623_HUMAN zinc finger protein 623 522 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3) 27 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CCATACATTTGGGTGAGAGGT 0.413000 38 68 9.80977e-26 2.04043e-25 0.004289 1 0 DDR2 4921 broad.mit.edu 37 1 162745580 162745580 + Silent SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:162745580T>C ENST00000367922.2 + 16 2433 c.1995T>C c.(1993-1995)ttT>ttC p.F665F DDR2_ENST00000367921.3_Silent_p.F665F NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 665 Protein kinase. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) TCAATCAGTTTCTTTCCCGCC 0.473000 39 164 0 0 0.002522 0 0 PCDH17 27253 broad.mit.edu 37 13 58240920 58240920 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr13:58240920C>A ENST00000377918.3 + 3 2776 c.2750C>A c.(2749-2751)gCa>gAa p.A917E NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 917 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GTTAGGGAGGCACTCAAGATG 0.463000 14 27 0.00244969 0.00319301 0.002450 1 0 CCDC141 285025 broad.mit.edu 37 2 179702023 179702023 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:179702023T>A ENST00000420890.2 - 23 4040 c.3923A>T c.(3922-3924)aAg>aTg p.K1308M CCDC141_ENST00000295723.5_Missense_Mutation_p.K733M|CCDC141_ENST00000480419.1_5'UTR NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 733 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) GGCAGTACTCTTTTCCACGAA 0.478000 22 53 0 0 0.001882 0 0 FAM57B 83723 broad.mit.edu 37 16 30036935 30036935 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:30036935G>T ENST00000564806.1 - 3 547 c.502C>A c.(502-504)Cgt>Agt p.R168S FAM57B_ENST00000279389.4_Intron|FAM57B_ENST00000380495.4_Intron Q71RH2 FA57B_HUMAN family with sequence similarity 57, member B 0 TLC. endoplasmic reticulum|integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 CAAAATGCACGGGGTGAGGGG 0.637000 35 12 3.90053e-15 7.04519e-15 0.002445 1 0 CASP1 834 broad.mit.edu 37 11 104897037 104897037 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:104897037G>T ENST00000533400.1 - 9 1198 c.1163C>A c.(1162-1164)aCc>aAc p.T388N CASP1_ENST00000598974.1_Missense_Mutation_p.T388N|CASP1_ENST00000527979.1_Missense_Mutation_p.T351N|CASP1_ENST00000526568.1_Missense_Mutation_p.T295N|CASP1_ENST00000525825.1_Missense_Mutation_p.T367N|CASP1_ENST00000446369.1_Missense_Mutation_p.T247N|CASP1_ENST00000393136.4_Missense_Mutation_p.T367N|CASP1_ENST00000436863.3_Missense_Mutation_p.T388N|CASP1_ENST00000531166.1_Missense_Mutation_p.T72N|CASP1_ENST00000353247.5_Missense_Mutation_p.T72N|CASP1_ENST00000415981.2_Missense_Mutation_p.T72N|CASP1_ENST00000594519.1_Missense_Mutation_p.T247N|CASP1_ENST00000593315.1_Missense_Mutation_p.T367N|CASP1_ENST00000534497.1_Missense_Mutation_p.T247N NM_001257118.1 NP_001244047.1 P29466 CASP1_HUMAN caspase 1, apoptosis-related cysteine peptidase 388 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) TCTTTCAGTGGTGGGCATCTG 0.408000 11 69 9.31168e-06 1.31053e-05 0.001855 1 0 SAMD15 161394 broad.mit.edu 37 14 77844926 77844926 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:77844926C>G ENST00000216471.4 + 1 1451 c.1165C>G c.(1165-1167)Cca>Gca p.P389A SAMD15_ENST00000533095.2_Intron NM_001010860.1 NP_001010860.1 Q9P1V8 SAM15_HUMAN sterile alpha motif domain containing 15 389 breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GGAGATCAACCCACAAGTTGA 0.413000 21 48 0 0 0.001523 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815123 106815123 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:106815123C>A ENST00000407775.2 + 8 3063 c.2813C>A c.(2812-2814)aCc>aAc p.T938N RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.T669N|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T806N|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T806N|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 938 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CACCTAGCAACCCTGCAAGGC 0.423000 13 20 2.61681e-11 4.31622e-11 0.002450 1 0 SLCO6A1 133482 broad.mit.edu 37 5 101774337 101774337 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:101774337C>A ENST00000506729.1 - 7 1431 c.1260G>T c.(1258-1260)gtG>gtT p.V420V SLCO6A1_ENST00000379807.3_Silent_p.V420V|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000389019.3_Silent_p.V358V|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Intron Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 420 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) GTGTAGTTGCCACAGTGGGTG 0.294000 49 12 6.87076e-12 1.14281e-11 0.003610 1 0 STARD3 10948 broad.mit.edu 37 17 37813294 37813294 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:37813294G>A ENST00000336308.5 + 3 471 c.253G>A c.(253-255)Gag>Aag p.E85K STARD3_ENST00000580611.1_Intron|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000394250.4_Missense_Mutation_p.E85K|STARD3_ENST00000544210.2_Missense_Mutation_p.E85K NM_001165937.1|NM_006804.3 NP_001159409.1|NP_006795.3 Q14849 STAR3_HUMAN StAR-related lipid transfer (START) domain containing 3 85 MENTAL. cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process integral to membrane|late endosome membrane cholesterol binding|cholesterol transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1) 14 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CTTGGAGCAGGAGATCATCCA 0.557000 30 23 0 0 0.003755 0 0 SLC1A6 6511 broad.mit.edu 37 19 15073090 15073090 + Missense_Mutation SNP G G A rs141656938 byFrequency TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:15073090G>A ENST00000598504.1 - 8 2018 c.659C>T c.(658-660)cCg>cTg p.P220L SLC1A6_ENST00000221742.3_Missense_Mutation_p.P220L|SLC1A6_ENST00000600144.1_Missense_Mutation_p.P220L|SLC1A6_ENST00000430939.2_Missense_Mutation_p.P156L|SLC1A6_ENST00000544886.2_Missense_Mutation_p.P220L NM_001272087.1 NP_001259016.1 P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 220 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) GGAGGCACCCGGCTCAGACCC 0.547000 67 22 0 0 0.003610 0 0 C11orf82 220042 broad.mit.edu 37 11 82645081 82645081 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:82645081C>A ENST00000533655.1 + 6 2913 c.2701C>A c.(2701-2703)Cca>Aca p.P901T C11orf82_ENST00000329143.3_Missense_Mutation_p.P600T|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.P901T NM_145018.3 NP_659455.3 Q8IXT1 NOXIN_HUMAN chromosome 11 open reading frame 82 901 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 ACAAGAGTTACCAAGAAAGAA 0.348000 18 31 1.56452e-12 2.62883e-12 0.007413 1 0 OR4C15 81309 broad.mit.edu 37 11 55322871 55322871 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:55322871T>A ENST00000314644.2 + 1 1089 c.1089T>A c.(1087-1089)gaT>gaA p.D363E NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TGGTTTCTGATGAGAAAGAAA 0.318000 HNSCC(20;0.049) 12 28 0 0 0.000978 0 0 DCC 1630 broad.mit.edu 37 18 50985817 50985817 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:50985817C>A ENST00000442544.2 + 24 4224 c.3608C>A c.(3607-3609)aCc>aAc p.T1203N DCC_ENST00000581580.1_Missense_Mutation_p.T838N NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1203 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGCAAAAGCACCTCTCATTCA 0.478000 22 27 2.37509e-13 4.07394e-13 0.001523 1 0 CD248 57124 broad.mit.edu 37 11 66083697 66083697 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:66083697C>A ENST00000311330.3 - 1 818 c.802G>T c.(802-804)Ggg>Tgg p.G268W RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 268 integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) CAACTGCGCCCGTCTGCTGCC 0.672000 20 17 1.87028e-06 2.69757e-06 0.001882 1 0 SIPA1L2 57568 broad.mit.edu 37 1 232650001 232650001 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:232650001G>A ENST00000366630.1 - 2 1443 c.1085C>T c.(1084-1086)tCt>tTt p.S362F SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S362F Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 362 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GGATGCTGCAGATGCCCCAGT 0.498000 56 73 0 0 0.003610 0 0 TTC12 54970 broad.mit.edu 37 11 113234595 113234595 + Missense_Mutation SNP A A C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:113234595A>C ENST00000393020.1 + 20 2167 c.1762A>C c.(1762-1764)Atc>Ctc p.I588L TTC12_ENST00000314756.3_Missense_Mutation_p.I588L|TTC12_ENST00000483239.2_Missense_Mutation_p.I594L|TTC12_ENST00000529221.1_Missense_Mutation_p.I588L Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 588 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) GATACTAGCTATCTGCACGAA 0.383000 14 34 0 0 0.004007 0 0 OR8K5 219453 broad.mit.edu 37 11 55926917 55926917 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:55926917T>C ENST00000313447.1 - 1 876 c.877A>G c.(877-879)Aga>Gga p.R293G NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) TCTTCGTTTCTTAAGCTGTAA 0.313000 18 59 0 0 0.006122 0 0 CSMD3 114788 broad.mit.edu 37 8 113960063 113960063 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:113960063A>T ENST00000297405.5 - 9 1708 c.1464T>A c.(1462-1464)gaT>gaA p.D488E CSMD3_ENST00000455883.2_Missense_Mutation_p.D384E|CSMD3_ENST00000352409.3_Missense_Mutation_p.D488E|CSMD3_ENST00000343508.3_Missense_Mutation_p.D448E NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 488 Sushi 2. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTTCTCCTGGATCTGGGCATA 0.303000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 8 62 0 0 0.006214 0 0 UBE2C 11065 broad.mit.edu 37 20 44444115 44444115 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:44444115G>T ENST00000335046.3 + 4 364 c.303G>T c.(301-303)tgG>tgT p.W101C UBE2C_ENST00000496085.1_3'UTR|UBE2C_ENST00000352551.5_Intron|UBE2C_ENST00000405520.1_Intron|UBE2C_ENST00000372568.4_Intron|UBE2C_ENST00000243893.6_Intron|UBE2C_ENST00000356455.4_Intron NM_181799.1 NP_861515.1 O00762 UBE2C_HUMAN ubiquitin-conjugating enzyme E2C 122 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization anaphase-promoting complex|cytosol|nucleoplasm ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(2)|lung(2)|skin(1) 5 Myeloproliferative disorder(115;0.0122) CCCTTGTGTGGGGCTTGGGTT 0.493000 72 64 3.83446e-41 8.68909e-41 0.003610 1 0 RP1L1 94137 broad.mit.edu 37 8 10465352 10465352 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:10465352C>G ENST00000382483.3 - 4 6479 c.6256G>C c.(6256-6258)Gat>Cat p.D2086H NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 2086 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TCCTGGGCATCTACATCTTCT 0.632000 57 119 0 0 0.003610 0 0 TGFBR3 7049 broad.mit.edu 37 1 92193305 92193305 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:92193305C>G ENST00000212355.4 - 7 1261 c.796G>C c.(796-798)Gtc>Ctc p.V266L TGFBR3_ENST00000370399.2_Missense_Mutation_p.V266L|TGFBR3_ENST00000525962.1_Missense_Mutation_p.V266L NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 266 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) AGATTTTTGACCACTTCAAGA 0.383000 21 47 0 0 0.001523 0 0 HGF 3082 broad.mit.edu 37 7 81388012 81388012 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:81388012G>T ENST00000222390.5 - 3 589 c.363C>A c.(361-363)aaC>aaA p.N121K HGF_ENST00000453018.1_Missense_Mutation_p.N18K|HGF_ENST00000444829.2_Missense_Mutation_p.N121K|HGF_ENST00000423064.2_Missense_Mutation_p.N121K|HGF_ENST00000453411.1_Missense_Mutation_p.N121K|HGF_ENST00000457544.2_Missense_Mutation_p.N121K|HGF_ENST00000354224.6_Missense_Mutation_p.N121K NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 121 PAN. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 AGTTACCTTTGTTTTCATAGA 0.338000 37 34 1.90571e-15 3.48674e-15 0.004289 1 0 CSPG4 1464 broad.mit.edu 37 15 75968962 75968962 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr15:75968962G>T ENST00000308508.5 - 10 5990 c.5898C>A c.(5896-5898)ctC>ctA p.L1966L CTD-2026K11.1_ENST00000569467.1_RNA NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1966 Cysteine-containing.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 AAACCACCCGGAGCTGCTGCT 0.672000 14 26 1.52009e-12 2.57607e-12 0.003163 1 0 MAP2 4133 broad.mit.edu 37 2 210559792 210559792 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:210559792G>T ENST00000360351.4 + 7 3404 c.2898G>T c.(2896-2898)aaG>aaT p.K966N MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.K962N|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 966 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TACTAGAAAAGAGTGAAGAAC 0.403000 34 33 2.42023e-17 4.55465e-17 0.003271 1 0 EPHA5 2044 broad.mit.edu 37 4 66509116 66509116 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:66509116C>A ENST00000273854.3 - 2 811 c.211G>T c.(211-213)Ggg>Tgg p.G71W EPHA5_ENST00000432638.2_Missense_Mutation_p.G71W|EPHA5_ENST00000511294.1_Missense_Mutation_p.G71W|EPHA5_ENST00000354839.4_Missense_Mutation_p.G71W NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 71 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 CCCAGGTCCCCCATGACAGTG 0.318000 TSP Lung(17;0.13) 34 13 4.16155e-14 7.29008e-14 0.008740 1 0 CST9 128822 broad.mit.edu 37 20 23586332 23586332 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:23586332G>A ENST00000376971.3 - 1 181 c.170C>T c.(169-171)aCt>aTt p.T57I NM_001008693.2 NP_001008693.2 Q5W186 CST9_HUMAN cystatin 9 (testatin) 57 extracellular region cysteine-type endopeptidase inhibitor activity central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 12 Colorectal(13;0.0993) CACGTTGAAAGTGTTCAAGGC 0.498000 47 210 0 0 0.003610 0 0 OR52I1 390037 broad.mit.edu 37 11 4616129 4616129 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:4616129C>A ENST00000450052.2 + 2 933 c.933C>A c.(931-933)atC>atA p.I311I OR52I1_ENST00000530443.2_Silent_p.I287I Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, member 1 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TGTACGTGATCATCCCAGCCA 0.498000 54 49 2.74695e-27 5.87444e-27 0.003610 1 0 TTN 7273 broad.mit.edu 37 2 179648463 179648463 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:179648463G>A ENST00000589042.1 - 17 3049 c.2825C>T c.(2824-2826)cCa>cTa p.P942L TTN_ENST00000342992.6_Missense_Mutation_p.P942L|TTN_ENST00000460472.2_Missense_Mutation_p.P896L|TTN_ENST00000360870.5_Missense_Mutation_p.P942L|TTN_ENST00000359218.5_Missense_Mutation_p.P896L|TTN_ENST00000591111.1_Missense_Mutation_p.P942L|TTN_ENST00000342175.6_Missense_Mutation_p.P896L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 942 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAAAGTTGGTGGAGTAACAGG 0.353000 23 72 0 0 0.006320 0 0 SELK 58515 broad.mit.edu 37 3 53925795 53925795 + Splice_Site SNP A A G rs113683665 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:53925795A>G ENST00000495461.1 - 1 219 c.e1+1 SELK_ENST00000485414.1_Splice_Site|SELK_ENST00000541726.1_Splice_Site Q9Y6D0 SELK_HUMAN response to oxidative stress endoplasmic reticulum BRCA - Breast invasive adenocarcinoma(193;0.000146)|KIRC - Kidney renal clear cell carcinoma(284;0.00549)|Kidney(284;0.00619)|OV - Ovarian serous cystadenocarcinoma(275;0.113) CTCTCAACTTACCGTTCGAGA 0.607000 7 15 0 0 0.001984 0 0 PTPN5 84867 broad.mit.edu 37 11 18765577 18765577 + Nonsense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:18765577G>T ENST00000396170.1 - 4 1531 c.267C>A c.(265-267)tgC>tgA p.C89* PTPN5_ENST00000358540.2_Nonsense_Mutation_p.C89*|PTPN5_ENST00000396171.4_Nonsense_Mutation_p.C89*|PTPN5_ENST00000396168.1_Nonsense_Mutation_p.C65*|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396167.2_Nonsense_Mutation_p.C89* NM_001278236.1 NP_001265165.1 P54829 PTN5_HUMAN protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) 89 integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 CAGCGAACAGGCACAGGCTGC 0.662000 27 57 3.65163e-15 6.61983e-15 0.006320 1 0 TPR 7175 broad.mit.edu 37 1 186295264 186295264 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:186295264T>A ENST00000367478.3 - 41 6289 c.5993A>T c.(5992-5994)aAt>aTt p.N1998I NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 1998 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) ataaccatcattgccatcggc 0.408000 T NTRK1 papillary thyroid 44 65 0 0 0.003610 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43545941 43545941 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:43545941G>C ENST00000430334.3 - 5 1075 c.942C>G c.(940-942)agC>agG p.S314R PLEKHM1_ENST00000421073.2_Missense_Mutation_p.S225R NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 314 intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) CCTGGGCTTTGCTGAATTCCA 0.512000 27 39 0 0 0.001786 0 0 NF1 4763 broad.mit.edu 37 17 29553455 29553455 + Silent SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:29553455T>C ENST00000358273.4 + 18 2387 c.2004T>C c.(2002-2004)gaT>gaC p.D668D NF1_ENST00000356175.3_Silent_p.D668D NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 668 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ACTCTCAGGATAGTGCAGCAG 0.458000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 9 14 0 0 0.006214 0 0 CD163L1 283316 broad.mit.edu 37 12 7559354 7559354 + Nonsense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:7559354G>T ENST00000313599.3 - 5 918 c.861C>A c.(859-861)tgC>tgA p.C287* CD163L1_ENST00000396630.1_Nonsense_Mutation_p.C287*|CD163L1_ENST00000416109.2_Nonsense_Mutation_p.C297* Q9NR16 C163B_HUMAN CD163 molecule-like 1 287 SRCR 3. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 ACTTATGGTGGCATACGGTCC 0.498000 53 69 5.22555e-25 1.08009e-24 0.003610 1 0 IGF2 3481 broad.mit.edu 37 11 2156610 2156610 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:2156610G>T ENST00000416167.2 - 2 1310 c.144C>A c.(142-144)cgC>cgA p.R48R IGF2_ENST00000434045.2_Silent_p.R104R|IGF2_ENST00000381392.1_Silent_p.R48R|IGF2_ENST00000381395.1_Silent_p.R48R|IGF2_ENST00000337883.6_Silent_p.R48R|IGF2_ENST00000381406.4_Silent_p.R48R|IGF2_ENST00000381389.1_Silent_p.R48R|IGF2_ENST00000300632.5_Silent_p.R48R|IGF2_ENST00000418738.2_Silent_p.R48R P01344 IGF2_HUMAN insulin-like growth factor 2 (somatomedin A) 48 B. glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1) 6 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) AGTAGAAGCCGCGGTCCCCAC 0.637000 9 6 1.58986e-06 2.3032e-06 0.008291 1 0 CLCC1 23155 broad.mit.edu 37 1 109493041 109493041 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:109493041G>A ENST00000369971.2 - 2 148 c.19C>T c.(19-21)Ctt>Ttt p.L7F AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.L7F|CLCC1_ENST00000348264.2_Missense_Mutation_p.L7F|CLCC1_ENST00000302500.4_Missense_Mutation_p.L7F|CLCC1_ENST00000415331.1_Missense_Mutation_p.L7F|CLCC1_ENST00000369968.2_Missense_Mutation_p.L7F|CLCC1_ENST00000369969.2_Missense_Mutation_p.L7F|CLCC1_ENST00000369970.3_Missense_Mutation_p.L7F|CLCC1_ENST00000369976.1_Missense_Mutation_p.L7F NM_001048210.1 NP_001041675.1 Q96S66 CLCC1_HUMAN chloride channel CLIC-like 1 7 endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1) 14 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231) CATTCACAAAGGAGCAAAGAA 0.338000 29 43 0 0 0.007291 0 0 REG3A 5068 broad.mit.edu 37 2 79385835 79385835 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:79385835G>T ENST00000393878.1 - 2 391 c.137C>A c.(136-138)gCc>gAc p.A46D REG3A_ENST00000409839.3_Missense_Mutation_p.A46D|REG3A_ENST00000305165.2_Missense_Mutation_p.A46D|AC011754.1_ENST00000415201.1_RNA NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 46 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 GGAGCCATAGGCCTTGGAGCC 0.547000 22 22 3.5997e-14 6.33958e-14 0.002299 1 0 ALDH8A1 64577 broad.mit.edu 37 6 135263559 135263559 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:135263559G>T ENST00000265605.2 - 3 498 c.430C>A c.(430-432)Ccg>Acg p.P144T RP11-349J5.2_ENST00000416448.2_RNA|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.P144T|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.P144T NM_022568.3 NP_072090.1 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8 family, member A1 144 retinal metabolic process cytoplasm retinal dehydrogenase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 36 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) ACTCCCACCGGGGCCCGCACC 0.572000 24 23 2.39556e-15 4.35878e-15 0.002780 1 0 DNAH2 146754 broad.mit.edu 37 17 7689630 7689630 + Silent SNP C C T rs150195626 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:7689630C>T ENST00000572933.1 + 40 7778 c.6318C>T c.(6316-6318)cgC>cgT p.R2106R DNAH2_ENST00000389173.2_Silent_p.R2106R Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2106 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTCTGTGCCGCGCCGGAGACC 0.597000 8 18 0 0 0.006214 0 0 SPINK6 404203 broad.mit.edu 37 5 147593482 147593482 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:147593482G>A ENST00000325630.2 + 3 347 c.91G>A c.(91-93)Ggt>Agt p.G31S NM_001195290.1|NM_205841.3 NP_001182219.1|NP_995313.2 Q6UWN8 ISK6_HUMAN serine peptidase inhibitor, Kazal type 6 31 Kazal-like. extracellular region serine-type endopeptidase inhibitor activity endometrium(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTTGACTGTGGTGAGTTCCA 0.463000 42 6 0 0 0.002522 0 0 DUSP21 63904 broad.mit.edu 37 X 44703516 44703516 + Silent SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:44703516T>C ENST00000339042.4 + 1 268 c.138T>C c.(136-138)aaT>aaC p.N46N NM_022076.3 NP_071359.3 Q9H596 DUS21_HUMAN dual specificity phosphatase 21 46 Sufficient for mitochondrial localization (By similarity).|Tyrosine-protein phosphatase. cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3) 19 TGTCCAGCAATCGCATCACCG 0.522000 49 18 0 0 0.003610 0 0 PPP1R12A 4659 broad.mit.edu 37 12 80189444 80189444 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:80189444T>C ENST00000450142.2 - 18 2823 c.2557A>G c.(2557-2559)Aca>Gca p.T853A PPP1R12A_ENST00000550107.1_Missense_Mutation_p.T797A|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.T766A|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.T853A|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.T853A NM_002480.2 NP_002471.1 O14974 MYPT1_HUMAN protein phosphatase 1, regulatory subunit 12A 853 Interaction with ROCK2. contractile fiber protein binding|signal transducer activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1) 29 GAAACTCCTGTAGATCTTCTT 0.333000 77 76 0 0 0.003610 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77913898 77913898 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:77913898G>T ENST00000321110.1 - 2 315 c.20C>A c.(19-21)gCc>gAc p.A7D NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 7 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 AATATAGGAGGCTGCTAAGTC 0.463000 7 4 2.0095e-06 2.87737e-06 0.001984 1 0 ZNF225 7768 broad.mit.edu 37 19 44635327 44635327 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:44635327A>T ENST00000262894.6 + 5 840 c.560A>T c.(559-561)tAt>tTt p.Y187F ZNF225_ENST00000590612.1_Missense_Mutation_p.Y187F|ZNF225_ENST00000592780.1_3'UTR NM_013362.2 NP_037494.2 Q9UK10 ZN225_HUMAN zinc finger protein 225 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 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) AGTTTCTGTTATAGCTCAGCT 0.398000 20 33 0 0 0.007413 0 0 COL5A1 1289 broad.mit.edu 37 9 137701111 137701111 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:137701111G>A ENST00000371817.3 + 43 3863 c.3449G>A c.(3448-3450)gGt>gAt p.G1150D NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1150 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 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) GGCCCTGTGGGTCCCCCTGGA 0.622000 5 17 0 0 0.000602 0 0 TCF20 6942 broad.mit.edu 37 22 42607645 42607645 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr22:42607645G>C ENST00000359486.3 - 1 3803 c.3667C>G c.(3667-3669)Cta>Gta p.L1223V TCF20_ENST00000335626.4_Missense_Mutation_p.L1223V NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1223 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GCCTCAGCTAGTCCATGTCCA 0.512000 19 23 0 0 0.006122 0 0 SLC9A4 389015 broad.mit.edu 37 2 103148809 103148809 + Nonsense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:103148809G>T ENST00000295269.4 + 12 2516 c.2059G>T c.(2059-2061)Gga>Tga p.G687* NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 687 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CAGTGATCCAGGATCCCCATC 0.453000 22 90 2.70639e-06 3.86963e-06 0.002299 1 0 SLC10A7 84068 broad.mit.edu 37 4 147438231 147438231 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:147438231C>A ENST00000432059.2 - 2 388 c.142G>T c.(142-144)Gca>Tca p.A48S SLC10A7_ENST00000507030.1_Missense_Mutation_p.A48S|SLC10A7_ENST00000394062.3_Missense_Mutation_p.A48S|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000394059.4_Missense_Mutation_p.A48S|SLC10A7_ENST00000335472.7_Missense_Mutation_p.A48S|SLC10A7_ENST00000511374.1_Missense_Mutation_p.A48S|SLC10A7_ENST00000502607.1_Missense_Mutation_p.A48S|SLC10A7_ENST00000264986.3_Missense_Mutation_p.A48S Q0GE19 NTCP7_HUMAN solute carrier family 10, member 7 48 integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1) 16 all_hematologic(180;0.151) AATATTGTTGCAACAGCAATG 0.338000 73 40 3.30373e-36 7.38482e-36 0.003610 1 0 ZBED1 9189 broad.mit.edu 37 X 2406920 2406920 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:2406920G>A ENST00000381223.4 - 2 2044 c.1841C>T c.(1840-1842)aCg>aTg p.T614M ZBED1_ENST00000381218.3_Missense_Mutation_p.T614M|DHRSX_ENST00000334651.5_Intron|RP11-325D5.3_ENST00000515319.1_RNA|ZBED1_ENST00000381222.2_Missense_Mutation_p.T614M NM_001171135.1|NM_001171136.1|NM_004729.3 NP_001164606.1|NP_001164607.1|NP_004720.1 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 614 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 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) GGCGACGCGCGTGGCCGTCAC 0.667000 46 71 0 0 0.003214 0 0 TTN 7273 broad.mit.edu 37 2 179397732 179397732 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:179397732C>T ENST00000589042.1 - 358 103834 c.103610G>A c.(103609-103611)cGg>cAg p.R34537Q TTN_ENST00000342992.6_Missense_Mutation_p.R31969Q|TTN_ENST00000460472.2_Missense_Mutation_p.R25472Q|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R25597Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R32896Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R25664Q|TTN-AS1_ENST00000450692.2_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32896 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATAAGGCATCCGGAGTTTTCT 0.458000 53 154 0 0 0.003610 0 0 GM2A 2760 broad.mit.edu 37 5 150632802 150632802 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:150632802C>T ENST00000357164.3 + 1 350 c.25C>T c.(25-27)Ctc>Ttc p.L9F NM_000405.4|NM_001167607.1 NP_000396.2|NP_001161079.1 P17900 SAP3_HUMAN GM2 ganglioside activator 9 lysosome|nucleolus sphingolipid activator protein activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2) 8 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCAGGCTCCCCTCCTGATCGC 0.592000 21 50 0 0 0.002299 0 0 NIPBL 25836 broad.mit.edu 37 5 37007478 37007478 + Nonsense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:37007478A>T ENST00000282516.8 + 18 4640 c.4141A>T c.(4141-4143)Aga>Tga p.R1381* NIPBL_ENST00000448238.2_Nonsense_Mutation_p.R1381* NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1381 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CCATAAGCAGAGAGTAATAGT 0.318000 17 47 0 0 0.004990 0 0 ZNF195 7748 broad.mit.edu 37 11 3392868 3392868 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:3392868G>A ENST00000354599.6 - 2 173 c.69C>T c.(67-69)ctC>ctT p.L23L ZNF195_ENST00000438262.2_Silent_p.L27L|ZNF195_ENST00000528796.1_Silent_p.L23L|ZNF195_ENST00000343338.7_Silent_p.L27L|ZNF195_ENST00000526601.1_Silent_p.L27L|ZNF195_ENST00000399602.4_Silent_p.L23L|ZNF195_ENST00000527386.1_5'UTR|ZNF195_ENST00000429541.2_Silent_p.L27L|ZNF195_ENST00000005082.9_Silent_p.L23L NM_001242843.1|NM_001256825.1|NM_007152.4 NP_001229772.1|NP_001243754.1|NP_009083.2 O14628 ZN195_HUMAN zinc finger protein 195 0 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) TCTGCTGAGCGAGGTCCAGGC 0.443000 28 57 0 0 0.008361 0 0 POLD4 57804 broad.mit.edu 37 11 67120236 67120236 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:67120236C>G ENST00000312419.3 - 3 371 c.225G>C c.(223-225)caG>caC p.Q75H POLD4_ENST00000539074.1_Intron|AP003419.11_ENST00000543494.1_RNA|POLD4_ENST00000529704.1_5'UTR NM_021173.4 NP_066996.3 Q9HCU8 DPOD4_HUMAN polymerase (DNA-directed), delta 4, accessory subunit 75 base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA-directed DNA polymerase activity|protein binding breast(1)|endometrium(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(15;3.08e-06) CCAAGCCCATCTGCTTGGCCC 0.652000 16 32 0 0 0.007413 0 0 TENM2 57451 broad.mit.edu 37 5 167674028 167674028 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:167674028A>T ENST00000519204.1 + 26 5839 c.5721A>T c.(5719-5721)ttA>ttT p.L1907F TENM2_ENST00000518659.1_Missense_Mutation_p.L2028F|TENM2_ENST00000545108.1_Missense_Mutation_p.L2027F|TENM2_ENST00000403607.2_Missense_Mutation_p.L1852F|TENM2_ENST00000520394.1_Missense_Mutation_p.L1789F teneurin transmembrane protein 2 TCTCCAAGTTATCAGAGATTG 0.527000 16 57 0 0 0.008871 0 0 VRK2 7444 broad.mit.edu 37 2 58311222 58311222 + Splice_Site SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:58311222A>T ENST00000435505.2 + 6 881 c.e6-1 VRK2_ENST00000440705.2_Splice_Site|VRK2_ENST00000340157.4_Splice_Site|VRK2_ENST00000412104.2_Splice_Site|VRK2_ENST00000417641.2_Splice_Site Q86Y07 VRK2_HUMAN vaccinia related kinase 2 integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 24 TTTTGTCTGCAGCTTTCCCCA 0.328000 36 55 0 0 0.004878 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43833464 43833464 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:43833464G>T ENST00000389420.3 - 18 2553 c.2554C>A c.(2554-2556)Ccc>Acc p.P852T ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P6T|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P852T NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 852 TSP type-1 2. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GGTCCATAGGGGTCCCATGTG 0.433000 37 62 2.40579e-17 4.54478e-17 0.006230 1 0 CTLA4 1493 broad.mit.edu 37 2 204735330 204735330 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:204735330C>T ENST00000302823.3 + 2 288 c.131C>T c.(130-132)gCt>gTt p.A44V CTLA4_ENST00000295854.6_Missense_Mutation_p.A44V|CTLA4_ENST00000427473.2_Missense_Mutation_p.A7V|CTLA4_ENST00000487393.1_Intron|CTLA4_ENST00000472206.1_Missense_Mutation_p.A44V NM_005214.4 NP_005205.2 P16410 CTLA4_HUMAN cytotoxic T-lymphocyte-associated protein 4 44 Ig-like V-type. B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm large_intestine(4)|lung(4)|skin(1) 9 Abatacept(DB01281) GCCCAGCCTGCTGTGGTACTG 0.582000 200 40 0 0 0.003610 0 0 OR10H1 26539 broad.mit.edu 37 19 15918728 15918728 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:15918728C>A ENST00000334920.2 - 1 208 c.120G>T c.(118-120)ctG>ctT p.L40L NM_013940.2 NP_039228.1 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, member 1 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 GCAGGTTGCCCAGCAGCGTGA 0.597000 54 11 2.03366e-24 4.19469e-24 0.003610 1 0 PAPLN 89932 broad.mit.edu 37 14 73719443 73719443 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:73719443C>A ENST00000427855.1 + 11 1156 c.1054C>A c.(1054-1056)Cgg>Agg p.R352R PAPLN_ENST00000554301.1_Silent_p.R352R|PAPLN_ENST00000340738.5_Silent_p.R325R|PAPLN_ENST00000381166.3_Silent_p.R352R|PAPLN_ENST00000555445.1_Silent_p.R352R O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 352 TSP type-1 2. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding p.R352W(1)|p.R325W(1) NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) GCCAGCTGACCGGCGTTCCTG 0.642000 49 56 2.43277e-16 4.50108e-16 0.003610 1 0 HYDIN 54768 broad.mit.edu 37 16 71015345 71015345 + Nonsense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:71015345C>A ENST00000393567.2 - 29 4609 c.4459G>T c.(4459-4461)Gga>Tga p.G1487* NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1487 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ATTCCCTCTCCGCTCAGAGTG 0.478000 18 39 7.16444e-05 9.79041e-05 0.003954 1 0 ALG9 79796 broad.mit.edu 37 11 111709015 111709015 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:111709015C>A ENST00000398006.2 - 11 1655 c.747G>T c.(745-747)ctG>ctT p.L249L ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000531154.1_Silent_p.L256L|ALG9_ENST00000524880.1_3'UTR NM_001077690.1|NM_001077691.1|NM_001077692.1 NP_001071158.1|NP_001071159.1|NP_001071160.1 Q9H6U8 ALG9_HUMAN ALG9, alpha-1,2-mannosyltransferase 420 dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587) AGAGCCCAAACAGGAAGACAG 0.428000 22 19 1.28384e-07 1.92478e-07 0.001882 1 0 EMILIN3 90187 broad.mit.edu 37 20 39991455 39991455 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:39991455G>A ENST00000332312.3 - 4 946 c.754C>T c.(754-756)Cta>Tta p.L252L NM_052846.1 NP_443078.1 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 252 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) ACCTTGCTTAGGATCTCGTCT 0.602000 23 34 0 0 0.002780 0 0 LHX1 3975 broad.mit.edu 37 17 35300422 35300422 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:35300422G>T ENST00000254457.5 + 5 2626 c.1215G>T c.(1213-1215)gtG>gtT p.V405V RP11-445F12.2_ENST00000607336.1_RNA NM_005568.3 NP_005559.2 P48742 LHX1_HUMAN LIM homeobox 1 405 cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development nucleus|protein complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(25;0.00607) AGGCGGCCGTGTGGTAGCGGG 0.527000 12 5 9.31168e-06 1.31053e-05 0.001855 1 0 SNRPC 6631 broad.mit.edu 37 6 34730397 34730397 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:34730397G>T ENST00000374017.3 + 2 427 c.140G>T c.(139-141)aGt>aTt p.S47I SNRPC_ENST00000474635.1_3'UTR|SNRPC_ENST00000244520.5_Missense_Mutation_p.S26I|SNRPC_ENST00000374018.1_5'UTR P09234 RU1C_HUMAN small nuclear ribonucleoprotein polypeptide C 26 spliceosomal snRNP assembly Cajal body|U1 snRNP protein homodimerization activity|single-stranded RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1) 6 ACACACTGCAGTGGAAGGAAA 0.343000 7 50 0.000157383 0.000212424 0.003080 1 0 WNT3A 89780 broad.mit.edu 37 1 228246785 228246785 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:228246785C>A ENST00000284523.1 + 4 756 c.678C>A c.(676-678)gcC>gcA p.A226A WNT3A_ENST00000366753.2_Silent_p.A226A NM_033131.3 NP_149122.1 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 226 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) ACTTCCGCGCCATCGGTGACT 0.657000 19 36 1.78486e-19 3.4989e-19 0.007413 1 0 EXPH5 23086 broad.mit.edu 37 11 108412428 108412428 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:108412428C>G ENST00000265843.4 - 2 341 c.231G>C c.(229-231)atG>atC p.M77I EXPH5_ENST00000428840.1_Start_Codon_SNP_p.M1I|EXPH5_ENST00000525344.1_Missense_Mutation_p.M70I NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 77 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GTTGTTTTAACATTTGGCTAA 0.338000 20 53 0 0 0.008871 0 0 MTHFD2P1 100287639 broad.mit.edu 37 3 95374360 95374360 + RNA SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:95374360C>A ENST00000494840.1 - 0 1501 NR_077228.1 AATATTGGTCCAAACACTTTC 0.448000 64 12 9.65139e-37 2.16718e-36 0.003610 1 0 RYR2 6262 broad.mit.edu 37 1 237754103 237754103 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:237754103G>T ENST00000366574.2 + 31 4288 c.3971G>T c.(3970-3972)gGg>gTg p.G1324V RYR2_ENST00000360064.6_Missense_Mutation_p.G1322V|RYR2_ENST00000542537.1_Missense_Mutation_p.G1308V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1324 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGGCTCCCTGGGGCTGGCCTT 0.522000 34 84 1.61788e-16 2.999e-16 0.002445 1 0 OR4L1 122742 broad.mit.edu 37 14 20528618 20528618 + Nonsense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:20528618A>T ENST00000315683.1 + 1 415 c.415A>T c.(415-417)Aag>Tag p.K139* NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) CATGAGCCACAAGCTGCTAAA 0.423000 21 99 0 0 0.001523 0 0 MYH1 4619 broad.mit.edu 37 17 10406197 10406197 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:10406197T>C ENST00000226207.5 - 24 3063 c.2969A>G c.(2968-2970)gAt>gGt p.D990G CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 990 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 AATGGTTTCATCCAGACCCGC 0.512000 48 107 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179590619 179590619 + Silent SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:179590619T>A ENST00000589042.1 - 70 20654 c.20430A>T c.(20428-20430)gcA>gcT p.A6810A TTN_ENST00000342992.6_Silent_p.A5566A|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.A6493A|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6493 Ig-like 49. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGTTTTTGGATGCAATCTTGT 0.428000 24 15 0 0 0.002299 0 0 ARPP21 10777 broad.mit.edu 37 3 35778760 35778760 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:35778760C>A ENST00000187397.4 + 16 2006 c.1550C>A c.(1549-1551)tCc>tAc p.S517Y ARPP21_ENST00000444190.1_Missense_Mutation_p.S463Y|ARPP21_ENST00000417925.1_Missense_Mutation_p.S483Y|ARPP21_ENST00000337271.5_Missense_Mutation_p.S463Y|ARPP21_ENST00000458225.1_Missense_Mutation_p.S483Y NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 517 Gln-rich. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 GTGGGGCAGTCCCAACAGCAG 0.637000 19 17 8.00594e-06 1.12998e-05 0.007413 1 0 ZFP30 22835 broad.mit.edu 37 19 38127134 38127134 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:38127134C>A ENST00000351218.2 - 6 865 c.308G>T c.(307-309)tGg>tTg p.W103L ZFP30_ENST00000514101.2_Missense_Mutation_p.W103L|ZFP30_ENST00000392144.1_Missense_Mutation_p.W103L|ZFP30_ENST00000589018.1_Intron NM_014898.2 NP_055713.1 Q9Y2G7 ZFP30_HUMAN ZFP30 zinc finger protein 103 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CATTACCTTCCACTGAGATAA 0.338000 19 20 1.33834e-09 2.12585e-09 0.007413 1 0 SEZ6L 23544 broad.mit.edu 37 22 26747120 26747120 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr22:26747120G>T ENST00000529632.2 + 12 2706 c.2510G>T c.(2509-2511)gGt>gTt p.G837V SEZ6L_ENST00000404234.3_Missense_Mutation_p.G837V|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G610V|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G610V|SEZ6L_ENST00000411842.2_Missense_Mutation_p.G34V|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G837V|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G837V NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 837 Sushi 4. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 TGCAACCCCGGTTTTGTGCTT 0.572000 12 34 2.27111e-07 3.3793e-07 0.001368 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33649767 33649767 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:33649767C>A ENST00000504830.1 - 8 1561 c.1226G>T c.(1225-1227)tGt>tTt p.C409F ADAMTS12_ENST00000352040.3_Missense_Mutation_p.C409F|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 409 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CACAGGCTCACAGTCATTTTC 0.542000 HNSCC(64;0.19) 19 63 2.27731e-05 3.16453e-05 0.001882 1 0 PKDREJ 10343 broad.mit.edu 37 22 46655173 46655173 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr22:46655173A>T ENST00000253255.5 - 1 4046 c.4047T>A c.(4045-4047)gaT>gaA p.D1349E NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1349 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TCAGACGCTCATCTGGATGGG 0.388000 5 60 0 0 0.000602 0 0 ANGPTL5 253935 broad.mit.edu 37 11 101776570 101776570 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:101776570G>C ENST00000334289.3 - 4 845 c.250C>G c.(250-252)Caa>Gaa p.Q84E NM_178127.4 NP_835228.2 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 84 signal transduction extracellular space receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3) 29 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) ATAGAATTTTGCAAATTTCCT 0.279000 10 38 0 0 0.006214 0 0 ZNF500 26048 broad.mit.edu 37 16 4815625 4815625 + Nonsense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:4815625C>A ENST00000219478.6 - 2 654 c.355G>T c.(355-357)Gag>Tag p.E119* ZNF500_ENST00000545009.1_Nonsense_Mutation_p.E119* O60304 ZN500_HUMAN zinc finger protein 500 119 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 21 ACGGCCTCCTCACCGCTCTCC 0.647000 16 36 6.31663e-08 9.54255e-08 0.003163 1 0 COBL 23242 broad.mit.edu 37 7 51092955 51092955 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:51092955G>A ENST00000395542.2 - 14 4049 c.3865C>T c.(3865-3867)Ccc>Tcc p.P1289S COBL_ENST00000265136.7_Missense_Mutation_p.P1207S O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 1207 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) GGTGGTGGGGGAATGGCTGGT 0.627000 6 18 0 0 0.001168 0 0 FAT3 120114 broad.mit.edu 37 11 92577505 92577505 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:92577505C>G ENST00000298047.6 + 18 10989 c.10972C>G c.(10972-10974)Cct>Gct p.P3658A FAT3_ENST00000409404.2_Missense_Mutation_p.P3658A|FAT3_ENST00000533797.1_Intron|FAT3_ENST00000525166.1_Missense_Mutation_p.P3508A Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3658 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AAATGTGTCCCCTGAGGACTT 0.572000 TCGA Ovarian(4;0.039) 25 55 0 0 0.003954 0 0 KEL 3792 broad.mit.edu 37 7 142639611 142639611 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:142639611G>A ENST00000355265.2 - 18 2421 c.1947C>T c.(1945-1947)taC>taT p.Y649Y NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 649 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GCCTCTTGCTGTATGCCTGGG 0.587000 17 3 0 0 0.007413 0 0 FCHO2 115548 broad.mit.edu 37 5 72383470 72383470 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:72383470C>T ENST00000430046.2 + 25 2416 c.2300C>T c.(2299-2301)aCg>aTg p.T767M FCHO2_ENST00000341845.6_Missense_Mutation_p.T767M|FCHO2_ENST00000512348.1_Missense_Mutation_p.T734M NM_001146032.1|NM_138782.2 NP_001139504.1|NP_620137.2 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 767 cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 17 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) AGTAAACCCACGACACTTGCA 0.433000 7 37 0 0 0.001984 0 0 OR56A4 120793 broad.mit.edu 37 11 6024341 6024341 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:6024341A>T ENST00000330728.4 - 1 83 c.38T>A c.(37-39)aTa>aAa p.I13K NM_001005179.2 NP_001005179.2 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, member 4 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGGCCCTGTATCTGTCCCAA 0.368000 27 36 0 0 0.002096 0 0 THSD7B 80731 broad.mit.edu 37 2 137988717 137988717 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:137988717G>C ENST00000409968.1 + 8 2005 c.1827G>C c.(1825-1827)gaG>gaC p.E609D THSD7B_ENST00000272643.3_Missense_Mutation_p.E609D|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.E578D thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AGTGGACGGAGTGGTCATCCT 0.512000 10 17 0 0 0.008291 0 0 DESI2 51029 broad.mit.edu 37 1 244849926 244849926 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:244849926A>T ENST00000302550.11 + 2 449 c.70A>T c.(70-72)Att>Ttt p.I24F DESI2_ENST00000263831.7_Missense_Mutation_p.I24F NM_016076.3 NP_057160.2 Q9BSY9 PPDE1_HUMAN desumoylating isopeptidase 2 24 PPPDE peptidase. TACCTCATCCATTGGAATTGG 0.363000 13 30 0 0 0.001855 0 0 SLC52A3 113278 broad.mit.edu 37 20 744613 744613 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:744613C>A ENST00000381944.3 - 3 843 c.602G>T c.(601-603)gGa>gTa p.G201V SLC52A3_ENST00000217254.7_Missense_Mutation_p.G201V|SLC52A3_ENST00000473664.1_Intron Q9NQ40 RFT2_HUMAN solute carrier family 52 (riboflavin transporter), member 3 201 sensory perception of sound integral to plasma membrane riboflavin transporter activity TGCTTCCATTCCGGGGAGGGC 0.587000 8 14 0.00307968 0.00400886 0.003080 1 0 SNTG1 54212 broad.mit.edu 37 8 51617187 51617187 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:51617187C>A ENST00000522124.1 + 16 1727 c.1066C>A c.(1066-1068)Cag>Aag p.Q356K SNTG1_ENST00000276467.5_Missense_Mutation_p.Q356K|SNTG1_ENST00000517473.1_Missense_Mutation_p.Q356K|SNTG1_ENST00000518864.1_Missense_Mutation_p.Q356K NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 356 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) CCGACGGAAACAGTGCTTCAC 0.552000 93 99 6.84326e-50 1.5834e-49 0.003610 1 0 RBFOX1 54715 broad.mit.edu 37 16 7645589 7645589 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:7645589G>T ENST00000340209.4 + 5 819 c.522G>T c.(520-522)gcG>gcT p.A174A RBFOX1_ENST00000436368.2_Silent_p.A189A|RBFOX1_ENST00000553186.1_Silent_p.A169A|RBFOX1_ENST00000422070.4_Silent_p.A212A|RBFOX1_ENST00000550418.1_Silent_p.A169A|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000547338.1_Silent_p.A169A|RBFOX1_ENST00000311745.5_Silent_p.A189A|RBFOX1_ENST00000552089.1_Silent_p.A186A|RBFOX1_ENST00000547372.1_Silent_p.A212A|RBFOX1_ENST00000355637.4_Silent_p.A189A Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 169 RRM. mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 GTGCCGATGCGGACAGGGCGA 0.428000 28 52 5.8336e-16 1.0733e-15 0.003271 1 0 FDFT1 2222 broad.mit.edu 37 8 11687842 11687842 + Silent SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:11687842C>G ENST00000220584.4 + 6 1014 c.792C>G c.(790-792)acC>acG p.T264T FDFT1_ENST00000525777.1_Silent_p.T179T|FDFT1_ENST00000525900.1_Silent_p.T257T|FDFT1_ENST00000538689.1_Silent_p.T153T|FDFT1_ENST00000528812.1_Silent_p.T200T|FDFT1_ENST00000443614.2_Silent_p.T221T|FDFT1_ENST00000528643.1_Silent_p.T179T|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000530664.1_Silent_p.T200T NM_004462.3 NP_004453.3 P37268 FDFT_HUMAN farnesyl-diphosphate farnesyltransferase 1 264 cholesterol biosynthetic process|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2) 12 all_epithelial(15;0.234) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.18) AACTTATAACCAATGCACTGC 0.463000 29 62 0 0 0.001786 0 0 DLG1 1739 broad.mit.edu 37 3 196842896 196842896 + Nonsense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:196842896C>A ENST00000346964.2 - 14 1633 c.1444G>T c.(1444-1446)Gga>Tga p.G482* DLG1_ENST00000452595.1_Nonsense_Mutation_p.G366*|DLG1_ENST00000450955.1_Nonsense_Mutation_p.G449*|DLG1_ENST00000448528.2_Nonsense_Mutation_p.G482*|DLG1_ENST00000314062.3_Nonsense_Mutation_p.G431*|DLG1_ENST00000392382.2_Nonsense_Mutation_p.G449*|DLG1_ENST00000357674.4_Nonsense_Mutation_p.G449*|DLG1_ENST00000419354.1_Nonsense_Mutation_p.G482*|DLG1_ENST00000422288.1_Nonsense_Mutation_p.G431*|DLG1_ENST00000443183.1_Nonsense_Mutation_p.G366* NM_004087.2 NP_004078.2 Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) 482 PDZ 3. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) TCTTCTCCTCCTACAATGTTG 0.373000 108 15 1.81142e-54 4.20114e-54 0.003610 1 0 LAMA1 284217 broad.mit.edu 37 18 7044817 7044817 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:7044817G>A ENST00000389658.3 - 7 973 c.880C>T c.(880-882)Cat>Tat p.H294Y NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 294 Laminin EGF-like 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAAGTATTATGCTCACATTGA 0.448000 67 59 0 0 0.003610 0 0 SLC17A6 57084 broad.mit.edu 37 11 22363101 22363101 + Silent SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:22363101G>C ENST00000263160.3 + 2 551 c.114G>C c.(112-114)ggG>ggC p.G38G NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 38 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 AAGACACCGGGGAGACAATCG 0.642000 13 63 0 0 0.004007 0 0 CEACAM5 1048 broad.mit.edu 37 19 42219636 42219636 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:42219636C>A ENST00000221992.6 + 4 885 c.771C>A c.(769-771)ctC>ctA p.L257L CEACAM5_ENST00000398599.4_Silent_p.L257L|CEACAM5_ENST00000405816.1_Silent_p.L257L|CEA_ENST00000598976.1_Intron NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 257 Ig-like 3. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) ATCTGAACCTCTCCTGCCACG 0.498000 19 23 5.3912e-06 7.65303e-06 0.006122 1 0 LRP4 4038 broad.mit.edu 37 11 46898090 46898090 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:46898090C>A ENST00000378623.1 - 25 3705 c.3463G>T c.(3463-3465)Ggg>Tgg p.G1155W NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1155 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) CGCATGGACCCGTCCAGGTTG 0.572000 62 47 5.82218e-30 1.26703e-29 0.003610 1 0 OR2A25 392138 broad.mit.edu 37 7 143771704 143771704 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:143771704A>G ENST00000408898.2 + 1 430 c.392A>G c.(391-393)tAt>tGt p.Y131C NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) CCTCTCCGATATTCTACCATC 0.463000 145 23 0 0 0.003610 0 0 RNF128 79589 broad.mit.edu 37 X 106033448 106033448 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:106033448G>T ENST00000255499.2 + 5 1170 c.920G>T c.(919-921)tGg>tTg p.W307L RNF128_ENST00000324342.3_Missense_Mutation_p.W281L NM_194463.1 NP_919445.1 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 307 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 GTTGACCCATGGCTGTTAGAA 0.318000 40 16 4.65455e-14 8.13929e-14 0.003610 1 0 MUC2 4583 broad.mit.edu 37 11 1093613 1093613 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:1093613C>T ENST00000441003.2 + 30 5459 c.5432C>T c.(5431-5433)cCa>cTa p.P1811L MUC2_ENST00000333592.6_Missense_Mutation_p.P99L|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.1767_1767insL NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1807 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ACACAGACCCCAACCATGATA 0.607000 26 18 0 0 0.003954 0 0 MRPL50 54534 broad.mit.edu 37 9 104152812 104152812 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:104152812G>A ENST00000374865.4 - 2 434 c.413C>T c.(412-414)tCt>tTt p.S138F MRPL50_ENST00000539624.1_Intron NM_019051.2 NP_061924.1 Q8N5N7 RM50_HUMAN mitochondrial ribosomal protein L50 138 mitochondrion|ribosome large_intestine(1)|lung(2)|prostate(2) 5 Acute lymphoblastic leukemia(62;0.0559) ATCAAATTTAGATCTATCTTG 0.408000 86 16 0 0 0.003610 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33577051 33577051 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:33577051G>C ENST00000504830.1 - 19 3415 c.3080C>G c.(3079-3081)tCc>tGc p.S1027C ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S942C NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1027 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TCTGGGCCTGGATGTAGGTGG 0.527000 HNSCC(64;0.19) 31 85 0 0 0.008361 0 0 FAT3 120114 broad.mit.edu 37 11 92615986 92615986 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:92615986T>A ENST00000298047.6 + 23 12381 c.12364T>A c.(12364-12366)Tgc>Agc p.C4122S FAT3_ENST00000409404.2_Missense_Mutation_p.C4122S|FAT3_ENST00000533797.1_Missense_Mutation_p.C457S|FAT3_ENST00000525166.1_Missense_Mutation_p.C3972S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4122 EGF-like 4; calcium-binding (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTCCTTCCTCTGCAACTGCAC 0.627000 TCGA Ovarian(4;0.039) 5 11 0 0 0.000602 0 0 LRRC4 64101 broad.mit.edu 37 7 127670199 127670199 + Nonsense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:127670199G>T ENST00000249363.3 - 2 752 c.495C>A c.(493-495)taC>taA p.Y165* SND1_ENST00000354725.3_Intron NM_022143.4 NP_071426.1 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 165 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2) 26 Lung(243;0.124) GGTTGAAGGCGTAAGAGGGGA 0.572000 96 11 1.70128e-39 3.84638e-39 0.003610 1 0 FAT3 120114 broad.mit.edu 37 11 92577662 92577662 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:92577662G>T ENST00000298047.6 + 18 11146 c.11129G>T c.(11128-11130)aGc>aTc p.S3710I FAT3_ENST00000409404.2_Missense_Mutation_p.S3710I|FAT3_ENST00000533797.1_Missense_Mutation_p.S45I|FAT3_ENST00000525166.1_Missense_Mutation_p.S3560I Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3710 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATGCACAGCAGCGAGTTCTAC 0.552000 TCGA Ovarian(4;0.039) 6 18 1.6384e-10 2.6624e-10 0.001984 1 0 PSTK 118672 broad.mit.edu 37 10 124740202 124740202 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:124740202G>A ENST00000405485.1 + 1 273 c.207G>A c.(205-207)gcG>gcA p.A69A PSTK_ENST00000368887.3_Silent_p.A69A Q8IV42 PSTK_HUMAN phosphoseryl-tRNA kinase 69 ATP binding|kinase activity endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2) 13 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725) GGGCAAGAGCGCGACCGGCGG 0.771000 OREG0020597 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 9 0 0 0.001168 0 0 TMC2 117532 broad.mit.edu 37 20 2597940 2597940 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:2597940T>A ENST00000358864.1 + 16 2178 c.2163T>A c.(2161-2163)ttT>ttA p.F721L TMC2_ENST00000496948.1_3'UTR NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 721 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 CACCCTCCTTTGACTGCGGGC 0.632000 5 59 0 0 0.000602 0 0 SHROOM3 57619 broad.mit.edu 37 4 77700208 77700208 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:77700208C>T ENST00000296043.6 + 11 6822 c.5869C>T c.(5869-5871)Ccc>Tcc p.P1957S RP11-359D14.3_ENST00000449007.1_RNA NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1957 ASD2. apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GGAGAGCCTGCCCTCAGATTT 0.562000 53 18 0 0 0.003610 0 0 FAM110C 642273 broad.mit.edu 37 2 45522 45522 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:45522C>T ENST00000327669.4 - 1 863 c.864G>A c.(862-864)gaG>gaA p.E288E NM_001077710.2 NP_001071178.2 Q1W6H9 F110C_HUMAN family with sequence similarity 110, member C 288 microtubule|microtubule organizing center|spindle pole central_nervous_system(1)|kidney(1)|lung(2) 4 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00221) all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232) GGGCGTTCCTCTCGATGACCG 0.657000 9 52 0 0 0.008291 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42159463 42159463 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:42159463G>T ENST00000444063.1 + 8 1080 c.948G>T c.(946-948)tgG>tgT p.W316C L3MBTL1_ENST00000427442.2_Missense_Mutation_p.W384C|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.W316C|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.W316C|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.W384C Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 316 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 AGTTCAGCTGGAGCCAGTACC 0.622000 16 33 3.41278e-10 5.52759e-10 0.004990 1 0 SNTG1 54212 broad.mit.edu 37 8 51705364 51705364 + Missense_Mutation SNP C C A rs149567485 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:51705364C>A ENST00000522124.1 + 19 2190 c.1529C>A c.(1528-1530)aCg>aAg p.T510K SNTG1_ENST00000276467.5_Missense_Mutation_p.T473K|SNTG1_ENST00000517473.1_Missense_Mutation_p.T473K|SNTG1_ENST00000518864.1_Missense_Mutation_p.T510K NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 510 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TCTGCTACCACGAGCAAAGCA 0.433000 84 116 1.17611e-34 2.61123e-34 0.003610 1 0 ADCK4 79934 broad.mit.edu 37 19 41220260 41220260 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:41220260C>A ENST00000324464.3 - 3 446 c.145G>T c.(145-147)Ggg>Tgg p.G49W ADCK4_ENST00000450541.1_Missense_Mutation_p.G49W|ADCK4_ENST00000243583.6_Missense_Mutation_p.G49W NM_024876.3 NP_079152.3 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 49 integral to membrane protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1) 17 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) CTCCCAGGCCCATCCTGGTAA 0.602000 19 31 1.33834e-09 2.12585e-09 0.007413 1 0 SRBD1 55133 broad.mit.edu 37 2 45778282 45778282 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:45778282C>T ENST00000263736.4 - 12 1719 c.1657G>A c.(1657-1659)Gct>Act p.A553T SRBD1_ENST00000535761.1_Missense_Mutation_p.A72T NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 553 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) GAAATTATAGCTAATTTGCAA 0.393000 21 32 0 0 0.003330 0 0 CIT 11113 broad.mit.edu 37 12 120295395 120295395 + Nonsense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:120295395C>A ENST00000392521.2 - 4 401 c.346G>T c.(346-348)Gag>Tag p.E116* CIT_ENST00000261833.7_Nonsense_Mutation_p.E116* NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 116 Protein kinase. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) GTTGCTTTCTCTCTTACCACC 0.473000 55 156 4.88506e-25 1.01183e-24 0.003610 1 0 OR4C15 81309 broad.mit.edu 37 11 55321937 55321937 + Nonsense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:55321937T>A ENST00000314644.2 + 1 155 c.155T>A c.(154-156)tTg>tAg p.L52* NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 ATCTTTTCCTTGGGAAACATG 0.353000 HNSCC(20;0.049) 80 68 0 0 0.003610 0 0 PLCE1 51196 broad.mit.edu 37 10 96005999 96005999 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:96005999C>A ENST00000260766.3 + 8 3351 c.2717C>A c.(2716-2718)gCa>gAa p.A906E PLCE1_ENST00000371375.1_Missense_Mutation_p.A598E|PLCE1_ENST00000371380.2_Missense_Mutation_p.A906E|PLCE1_ENST00000371385.3_Missense_Mutation_p.A598E NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 906 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AGCAGTAAAGCAAAACTTGGT 0.512000 18 35 0.000566183 0.000752879 0.004990 1 0 KCNC1 3746 broad.mit.edu 37 11 17758089 17758089 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:17758089C>T ENST00000379472.3 + 1 570 c.540C>T c.(538-540)ttC>ttT p.F180F KCNC1_ENST00000265969.6_Silent_p.F180F NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 180 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 GGGCGCTCTTCGAGGACCCGT 0.687000 8 6 0 0 0.003080 0 0 MIR485 574436 broad.mit.edu 37 14 101521780 101521780 + RNA SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:101521780G>T ENST00000385292.2 + 0 43 NR_030160.1 TGGCCGTGATGAATTCGATTC 0.537000 17 111 1.56452e-12 2.62883e-12 0.007413 1 0 TP53 7157 broad.mit.edu 37 17 7577129 7577129 + Missense_Mutation SNP A A C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:7577129A>C ENST00000420246.2 - 8 941 c.809T>G c.(808-810)tTt>tGt p.F270C TP53_ENST00000445888.2_Missense_Mutation_p.F270C|TP53_ENST00000455263.2_Missense_Mutation_p.F270C|TP53_ENST00000359597.4_Missense_Mutation_p.F270C|TP53_ENST00000269305.4_Missense_Mutation_p.F270C|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 270 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.F270C(15)|p.0?(8)|p.F270S(8)|p.F270Y(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACGCACCTCAAAGCTGTTCCG 0.537000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 10 6 0 0 0.006214 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84530665 84530665 + RNA SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:84530665C>A ENST00000527857.1 + 0 687 NR_026851.1 GAGGGACCCTCTGCCACCACA 0.542000 131 26 2.31934e-59 5.39178e-59 0.003610 1 0 RAB11FIP5 26056 broad.mit.edu 37 2 73315800 73315800 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:73315800C>A ENST00000258098.6 - 3 1186 c.946G>T c.(946-948)Gct>Tct p.A316S RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 316 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 CGAGGAGGAGCCACTCGCATC 0.592000 9 8 1.12685e-05 1.58143e-05 0.004482 1 0 TNR 7143 broad.mit.edu 37 1 175372638 175372638 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:175372638G>C ENST00000367674.1 - 4 1322 c.614C>G c.(613-615)cCg>cGg p.P205R TNR_ENST00000263525.2_Missense_Mutation_p.P205R NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 205 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GCAACCCAGCGGGCAGTAGGG 0.597000 58 103 0 0 0.003610 0 0 CCL21 6366 broad.mit.edu 37 9 34709603 34709603 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:34709603G>T ENST00000259607.2 - 3 322 c.265C>A c.(265-267)Cat>Aat p.H89N CCL21_ENST00000378792.1_Missense_Mutation_p.H89N NM_002989.2 NP_002980.1 O00585 CCL21_HUMAN chemokine (C-C motif) ligand 21 89 activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization|T cell costimulation extracellular space CCR7 chemokine receptor binding|chemokine activity large_intestine(4) 4 all_epithelial(49;0.0899) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) TTGTCCAGATGCTGCATCAGC 0.607000 34 32 1.99505e-19 3.89548e-19 0.002445 1 0 USP19 10869 broad.mit.edu 37 3 49149022 49149022 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:49149022C>G ENST00000453664.1 - 21 3410 c.3092G>C c.(3091-3093)aGc>aCc p.S1031T USP19_ENST00000417901.1_Missense_Mutation_p.S1043T|USP19_ENST00000398892.3_Missense_Mutation_p.S980T|USP19_ENST00000434032.2_Missense_Mutation_p.S1041T|USP19_ENST00000398888.2_Missense_Mutation_p.S940T|USP19_ENST00000398896.1_Missense_Mutation_p.S748T|USP19_ENST00000398898.2_Missense_Mutation_p.S980T NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 940 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCCACTGGTGCTGGGCACAGG 0.642000 26 4 0 0 0.003954 0 0 SORL1 6653 broad.mit.edu 37 11 121477927 121477927 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:121477927G>T ENST00000260197.7 + 37 5223 c.5094G>T c.(5092-5094)tgG>tgT p.W1698C SORL1_ENST00000532694.1_Missense_Mutation_p.W544C|SORL1_ENST00000534286.1_Missense_Mutation_p.W608C|SORL1_ENST00000525532.1_Missense_Mutation_p.W642C|SORL1_ENST00000527934.1_Missense_Mutation_p.W313C NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1698 Fibronectin type-III 2. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CCAAGATGTGGGCCTCCCAGA 0.448000 16 12 4.35082e-09 6.81237e-09 0.001523 1 0 OR4N5 390437 broad.mit.edu 37 14 20612807 20612807 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:20612807C>A ENST00000333629.1 + 1 913 c.913C>A c.(913-915)Cat>Aat p.H305N NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) GTTAAGTCAACATATGTTTTG 0.373000 53 26 6.18754e-15 1.11151e-14 0.003610 1 0 TRIM51HP 440041 broad.mit.edu 37 11 55062969 55062969 + RNA SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:55062969T>A ENST00000526016.1 - 0 668 NR_038174.2 TATGGCACATTTTCTTCAGAT 0.443000 10 27 0 0 0.006214 0 0 BCAS3 54828 broad.mit.edu 37 17 58987935 58987935 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:58987935C>G ENST00000589222.1 + 12 933 c.865C>G c.(865-867)Cag>Gag p.Q289E BCAS3_ENST00000588462.1_Missense_Mutation_p.Q289E|BCAS3_ENST00000408905.3_Missense_Mutation_p.Q289E|BCAS3_ENST00000585744.1_Missense_Mutation_p.Q60E|BCAS3_ENST00000588874.1_Missense_Mutation_p.Q60E|BCAS3_ENST00000390652.5_Missense_Mutation_p.Q289E|BCAS3_ENST00000407086.3_Missense_Mutation_p.Q289E Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 289 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) AGTGGTGACTCAGCTGACAGG 0.443000 19 53 0 0 0.007413 0 0 SHC4 399694 broad.mit.edu 37 15 49255113 49255113 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr15:49255113G>T ENST00000332408.4 - 1 528 c.100C>A c.(100-102)Cgg>Agg p.R34R NM_203349.3 NP_976224.3 Q6S5L8 SHC4_HUMAN SHC (Src homology 2 domain containing) family, member 4 34 CH2. intracellular signal transduction cell junction|postsynaptic membrane breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 29 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) GACTCGTTCCGAAAGCGGCTG 0.652000 23 22 4.26978e-12 7.13797e-12 0.003330 1 0 TTN 7273 broad.mit.edu 37 2 179463660 179463660 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:179463660G>C ENST00000589042.1 - 291 57001 c.56777C>G c.(56776-56778)aCc>aGc p.T18926S TTN_ENST00000342992.6_Missense_Mutation_p.T16358S|TTN_ENST00000460472.2_Missense_Mutation_p.T9861S|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T9986S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T17285S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T10053S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17285 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTTGAAGTGGTGTCTTTCAT 0.453000 10 35 0 0 0.001368 0 0 CNR1 1268 broad.mit.edu 37 6 88854814 88854814 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:88854814C>G ENST00000537554.1 - 2 3742 c.180G>C c.(178-180)gaG>gaC p.E60D CNR1_ENST00000535130.1_Missense_Mutation_p.E60D|CNR1_ENST00000369501.2_Missense_Mutation_p.E60D|CNR1_ENST00000362094.5_Intron|CNR1_ENST00000468898.1_Missense_Mutation_p.E27D|CNR1_ENST00000549890.1_Missense_Mutation_p.E60D|CNR1_ENST00000369499.2_Missense_Mutation_p.E60D|CNR1_ENST00000428600.2_Missense_Mutation_p.E60D|CNR1_ENST00000549716.1_Intron NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 60 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) CAGTCATCTTCTCTTGGAAGG 0.463000 17 17 0 0 0.004990 0 0 ZNF543 125919 broad.mit.edu 37 19 57839116 57839116 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:57839116C>G ENST00000321545.4 + 4 631 c.286C>G c.(286-288)Ctg>Gtg p.L96V NM_213598.3 NP_998763.2 Q08ER8 ZN543_HUMAN zinc finger protein 543 96 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CTTTTCTCACCTGGCCTTGCC 0.458000 16 55 0 0 0.003163 0 0 FAT3 120114 broad.mit.edu 37 11 92533545 92533545 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:92533545C>A ENST00000298047.6 + 9 7383 c.7366C>A c.(7366-7368)Cat>Aat p.H2456N FAT3_ENST00000409404.2_Missense_Mutation_p.H2456N|FAT3_ENST00000525166.1_Missense_Mutation_p.H2306N Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2456 Cadherin 22. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATTGTCCAACCATCGGAAGCA 0.493000 TCGA Ovarian(4;0.039) 34 33 8.4185e-14 1.45157e-13 0.002445 1 0 KIAA1549L 25758 broad.mit.edu 37 11 33565256 33565256 + Missense_Mutation SNP T T G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:33565256T>G ENST00000321505.4 + 1 1436 c.1256T>G c.(1255-1257)tTg>tGg p.L419W KIAA1549L_ENST00000389726.3_Missense_Mutation_p.L419W|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.L419W KIAA1549-like ATATCTGGCTTGCAGCAGCAA 0.398000 OREG0020868 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 47 0 0 0.006214 0 0 KCTD18 130535 broad.mit.edu 37 2 201363800 201363800 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:201363800G>T ENST00000359878.3 - 4 890 c.380C>A c.(379-381)aCa>aAa p.T127K KCTD18_ENST00000409157.1_Missense_Mutation_p.T127K|KCTD18_ENST00000468413.1_5'UTR NM_152387.2 NP_689600.2 Q6PI47 KCD18_HUMAN potassium channel tetramerization domain containing 18 127 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 ACAGAAGTCTGTTAAAGCCTA 0.308000 25 79 2.39556e-15 4.35878e-15 0.002780 1 0 MAGEC3 139081 broad.mit.edu 37 X 140969201 140969201 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:140969201C>T ENST00000298296.1 + 4 528 c.528C>T c.(526-528)agC>agT p.S176S MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000536088.1_Intron NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 176 NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) TGCCAGAGAGCGAGCCCTTGT 0.473000 35 10 0 0 0.003755 0 0 HGF 3082 broad.mit.edu 37 7 81392114 81392114 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:81392114G>T ENST00000222390.5 - 2 389 c.163C>A c.(163-165)Cca>Aca p.P55T HGF_ENST00000453018.1_5'UTR|HGF_ENST00000444829.2_Missense_Mutation_p.P55T|HGF_ENST00000423064.2_Missense_Mutation_p.P55T|HGF_ENST00000453411.1_Missense_Mutation_p.P55T|HGF_ENST00000457544.2_Missense_Mutation_p.P55T|HGF_ENST00000354224.6_Missense_Mutation_p.P55T NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 55 PAN. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 TTCAGTGCTGGATCTATTTTG 0.308000 19 42 2.4624e-09 3.89879e-09 0.008871 1 0 CPNE4 131034 broad.mit.edu 37 3 131442447 131442447 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:131442447C>G ENST00000512055.1 - 7 2329 c.203G>C c.(202-204)cGc>cCc p.R68P CPNE4_ENST00000502818.1_Missense_Mutation_p.R86P|CPNE4_ENST00000512332.1_Missense_Mutation_p.R86P|CPNE4_ENST00000429747.1_Missense_Mutation_p.R68P|CPNE4_ENST00000511604.1_Missense_Mutation_p.R68P Q96A23 CPNE4_HUMAN copine IV 68 C2 1. p.R68H(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 TATGCAGGTGCGAATCACCTC 0.428000 30 92 0 0 0.002096 0 0 NLRP2 55655 broad.mit.edu 37 19 55501966 55501966 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:55501966C>G ENST00000543010.1 + 10 2777 c.2634C>G c.(2632-2634)aaC>aaG p.N878K NLRP2_ENST00000263437.6_Missense_Mutation_p.N875K|NLRP2_ENST00000391721.4_Missense_Mutation_p.N854K|NLRP2_ENST00000427260.2_Missense_Mutation_p.N855K|NLRP2_ENST00000538819.1_Missense_Mutation_p.N854K|NLRP2_ENST00000339757.7_Missense_Mutation_p.N856K|NLRP2_ENST00000448584.2_Missense_Mutation_p.N878K|NLRP2_ENST00000537859.1_Missense_Mutation_p.N856K NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 878 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) TGGCCAAGAACCCCATTGGGA 0.537000 27 27 0 0 0.007291 0 0 ZG16B 124220 broad.mit.edu 37 16 2880331 2880331 + Splice_Site SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:2880331T>A ENST00000382280.3 + 1 160 c.e1+2 NM_145252.2 NP_660295.2 Q96DA0 ZG16B_HUMAN zymogen granule protein 16B extracellular region sugar binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 ACAGGCGAGGTAAGGTGCTTG 0.637000 4 6 0 0 0.001168 0 0 NCAM2 4685 broad.mit.edu 37 21 22881243 22881243 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr21:22881243G>C ENST00000400546.1 + 16 2398 c.2149G>C c.(2149-2151)Gtg>Ctg p.V717L NCAM2_ENST00000284894.7_Missense_Mutation_p.V575L NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 717 neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GCTAATTCTTGTGGTAACAGA 0.423000 30 8 0 0 0.003271 0 0 ZNF595 152687 broad.mit.edu 37 4 59439 59439 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:59439G>T ENST00000509152.2 + 2 305 c.120G>T c.(118-120)ctG>ctT p.L40L ZNF595_ENST00000526473.2_Silent_p.L40L|ZNF595_ENST00000339368.6_3'UTR zinc finger protein 595 p.L40L(1) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) ACAGGAACCTGGTCTCCCTGG 0.443000 31 422 9.04072e-19 1.75486e-18 0.003271 1 0 RHOJ 57381 broad.mit.edu 37 14 63671684 63671684 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:63671684G>T ENST00000316754.3 + 1 559 c.97G>T c.(97-99)Ggg>Tgg p.G33W RHOJ_ENST00000555125.1_Missense_Mutation_p.G33W|RHOJ_ENST00000557133.1_3'UTR NM_020663.4 NP_065714.1 Q9H4E5 RHOJ_HUMAN ras homolog family member J 33 actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119) CGGTGCCGTGGGGAAAACCTG 0.547000 30 12 3.90053e-15 7.04519e-15 0.002445 1 0 OR4D11 219986 broad.mit.edu 37 11 59271420 59271420 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:59271420G>T ENST00000313253.1 + 1 372 c.372G>T c.(370-372)atG>atT p.M124I NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 ACTGCTACATGGCCATCTCCA 0.512000 36 108 3.61848e-18 6.91468e-18 0.007835 1 0 ASXL3 80816 broad.mit.edu 37 18 31323231 31323231 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:31323231C>A ENST00000269197.5 + 12 3419 c.3419C>A c.(3418-3420)cCa>cAa p.P1140Q NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1140 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GAAGGGCCTCCAAACTTAGAA 0.483000 6 10 0.00198382 0.00258918 0.001984 1 0 FRMPD4 9758 broad.mit.edu 37 X 12516865 12516865 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:12516865C>T ENST00000380682.1 + 2 614 c.108C>T c.(106-108)ccC>ccT p.P36P NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 36 WW. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 AGGTGCCGCCCTATGGATGGG 0.512000 22 1 0 0 0.003954 0 0 RAB2B 84932 broad.mit.edu 37 14 21930549 21930549 + Missense_Mutation SNP T T G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:21930549T>G ENST00000397762.1 - 7 603 c.503A>C c.(502-504)tAt>tCt p.Y168S RAB2B_ENST00000461909.1_5'UTR NM_001163380.1|NM_032846.3 NP_001156852.1|NP_116235.2 Q8WUD1 RAB2B_HUMAN RAB2B, member RAS oncogene family 168 Y -> H (in Ref. 1; AAN86142). protein transport|small GTPase mediated signal transduction|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane|plasma membrane GTP binding NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 6 all_cancers(95;0.000858) Epithelial(56;1.53e-06)|all cancers(55;1.44e-05) GBM - Glioblastoma multiforme(265;0.00391) GATCTTCCTATATATTTCTTT 0.383000 36 86 0 0 0.007835 0 0 CDC25C 995 broad.mit.edu 37 5 137665288 137665288 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:137665288C>A ENST00000323760.6 - 3 521 c.243G>T c.(241-243)gaG>gaT p.E81D CDC25C_ENST00000514555.1_Missense_Mutation_p.E81D|CDC25C_ENST00000513970.1_Missense_Mutation_p.E81D|CDC25C_ENST00000357274.3_Intron|CDC25C_ENST00000348983.3_Intron|CDC25C_ENST00000415130.2_Intron|CDC25C_ENST00000356505.3_Missense_Mutation_p.E81D NM_001790.3 NP_001781.2 P30307 MPIP3_HUMAN cell division cycle 25C 81 cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) TGGCAGTTATCTCCCCACTGC 0.418000 70 22 2.18329e-32 4.8042e-32 0.003610 1 0 TTN 7273 broad.mit.edu 37 2 179650358 179650358 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:179650358G>T ENST00000589042.1 - 15 2706 c.2482C>A c.(2482-2484)Cat>Aat p.H828N TTN_ENST00000342992.6_Missense_Mutation_p.H828N|TTN_ENST00000460472.2_Missense_Mutation_p.H782N|TTN_ENST00000360870.5_Missense_Mutation_p.H828N|TTN_ENST00000359218.5_Missense_Mutation_p.H782N|TTN_ENST00000591111.1_Missense_Mutation_p.H828N|TTN_ENST00000342175.6_Missense_Mutation_p.H782N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 828 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCATATCCATGTTCTGTCTTA 0.408000 17 54 3.99206e-14 7.0056e-14 0.007413 1 0 PCSK2 5126 broad.mit.edu 37 20 17462628 17462628 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:17462628G>T ENST00000262545.2 + 12 2145 c.1830G>T c.(1828-1830)aaG>aaT p.K610N PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Missense_Mutation_p.K575N|PCSK2_ENST00000377899.1_Missense_Mutation_p.K591N NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 610 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACCAGTCCAAGTTGGCCATGT 0.582000 7 32 0.00198382 0.00258918 0.001984 1 0 IGF2BP2-AS1 646600 broad.mit.edu 37 3 185434484 185434484 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:185434484C>T ENST00000296270.1 + 2 453 c.317C>T c.(316-318)gCc>gTc p.A106V IGF2BP2_ENST00000346192.3_Intron|IGF2BP2_ENST00000457616.2_Intron|IGF2BP2_ENST00000421047.2_Intron|IGF2BP2_ENST00000382199.2_Intron all_cancers(143;1.5e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) TTACTCAGGGCCATGGTGGTG 0.547000 20 28 0 0 0.001523 0 0 RP11-192H23.4 0 broad.mit.edu 37 17 26940477 26940477 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:26940477C>G ENST00000534850.1 - 2 336 c.305G>C c.(304-306)aGg>aCg p.R102T SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000577790.1_Missense_Mutation_p.R101T|SGK494_ENST00000469832.3_5'UTR|SGK494_ENST00000301037.5_Missense_Mutation_p.R102T endometrium(2)|kidney(2) 4 CTGCTGCCCCCTAATGGGCCT 0.522000 OREG0024279 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 62 0 0 0.002450 0 0 TAF1L 138474 broad.mit.edu 37 9 32635372 32635372 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:32635372C>A ENST00000242310.4 - 1 295 c.206G>T c.(205-207)gGg>gTg p.G69V RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 69 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CCCCAAAGCCCCCAAGCCTGC 0.537000 16 51 3.52763e-06 5.02205e-06 0.004990 1 0 MACF1 23499 broad.mit.edu 37 1 39888078 39888078 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:39888078G>A ENST00000564288.1 + 59 16626 c.15849G>A c.(15847-15849)caG>caA p.Q5283Q MACF1_ENST00000372915.3_Silent_p.Q5288Q|MACF1_ENST00000361689.2_Silent_p.Q3221Q|MACF1_ENST00000539005.1_Silent_p.Q3200Q|MACF1_ENST00000567887.1_Silent_p.Q5320Q|MACF1_ENST00000545844.1_Silent_p.Q3221Q|MACF1_ENST00000317713.7_Silent_p.Q3221Q|MACF1_ENST00000289893.4_Silent_p.Q3723Q Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 5288 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ATCCTCTTCAGATGAAATTGC 0.398000 35 20 0 0 0.003755 0 0 CA1 759 broad.mit.edu 37 8 86240798 86240798 + Silent SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:86240798A>T ENST00000523953.1 - 9 1823 c.777T>A c.(775-777)gcT>gcA p.A259A CA1_ENST00000432364.2_Silent_p.A259A|CA1_ENST00000431316.1_Silent_p.A259A|CA1_ENST00000522389.1_Silent_p.A125A|CA1_ENST00000256119.5_Silent_p.A259A|CA1_ENST00000542576.1_Silent_p.A259A|CA1_ENST00000523022.1_Silent_p.A259A P00915 CAH1_HUMAN carbonic anhydrase I 259 one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 13 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) ATCAAAATGAAGCTCTCACTG 0.408000 15 128 0 0 0.004990 0 0 PEG3 5178 broad.mit.edu 37 19 57328466 57328466 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:57328466C>A ENST00000326441.9 - 10 1707 c.1344G>T c.(1342-1344)ggG>ggT p.G448G PEG3_ENST00000598410.1_Silent_p.G324G|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Silent_p.G322G|PEG3_ENST00000423103.2_Silent_p.G448G|ZIM2_ENST00000221722.5_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 448 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) ATGGCATTGCCCCAAAATCAA 0.483000 32 65 1.61788e-16 2.999e-16 0.002445 1 0 TRIML1 339976 broad.mit.edu 37 4 189068142 189068142 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:189068142C>A ENST00000332517.3 + 6 1163 c.1023C>A c.(1021-1023)caC>caA p.H341Q TRIML1_ENST00000507581.1_3'UTR NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 341 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GTGGGAGACACTACTGGGAGG 0.562000 22 13 5.26018e-13 8.99145e-13 0.001882 1 0 SRBD1 55133 broad.mit.edu 37 2 45778281 45778281 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:45778281G>A ENST00000263736.4 - 12 1720 c.1658C>T c.(1657-1659)gCt>gTt p.A553V SRBD1_ENST00000535761.1_Missense_Mutation_p.A72V NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 553 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) AGAAATTATAGCTAATTTGCA 0.388000 22 30 0 0 0.003954 0 0 RPL3 6122 broad.mit.edu 37 22 39713540 39713540 + Silent SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr22:39713540T>A ENST00000216146.4 - 3 464 c.291A>T c.(289-291)cgA>cgT p.R97R RPL3_ENST00000401609.1_Silent_p.R45R|RPL3_ENST00000465618.1_5'UTR NM_000967.3|NM_001033853.1 NP_000958.1|NP_001029025.1 P39023 RL3_HUMAN ribosomal protein L3 97 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Melanoma(58;0.04) TCCGGAGGCCTCGAGGGGTTT 0.532000 35 79 0 0 0.002836 0 0 TTN 7273 broad.mit.edu 37 2 179579280 179579280 + Missense_Mutation SNP T T G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:179579280T>G ENST00000589042.1 - 91 26445 c.26221A>C c.(26221-26223)Aag>Cag p.K8741Q TTN_ENST00000342992.6_Missense_Mutation_p.K7497Q|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K8424Q|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8424 Ig-like 70. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCACTGAGCTTCTTCACAAAT 0.438000 20 17 0 0 0.002299 0 0 CUZD1 50624 broad.mit.edu 37 10 124593398 124593398 + Nonsense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:124593398G>A ENST00000368904.1 - 10 2390 c.1441C>T c.(1441-1443)Cag>Tag p.Q481* CUZD1_ENST00000545804.1_Nonsense_Mutation_p.Q481*|CUZD1_ENST00000392790.1_Nonsense_Mutation_p.Q481* Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 481 ZP. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) GCATTAAACTGGAATCTCCCA 0.378000 13 53 0 0 0.001855 0 0 FBXW4 6468 broad.mit.edu 37 10 103427688 103427688 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:103427688T>C ENST00000331272.7 - 5 1343 c.725A>G c.(724-726)cAg>cGg p.Q242R NM_022039.3 NP_071322.1 P57775 FBXW4_HUMAN F-box and WD repeat domain containing 4 242 ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway ubiquitin ligase complex breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 15 Colorectal(252;0.123) Epithelial(162;4.35e-08)|all cancers(201;1.92e-06) GTCTTCAGTCTGGATGGTGTG 0.498000 50 38 0 0 0.003610 0 0 MYH11 4629 broad.mit.edu 37 16 15853483 15853483 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:15853483C>T ENST00000338282.6 - 12 1457 c.1351G>A c.(1351-1353)Ggg>Agg p.G451R MYH11_ENST00000300036.5_Missense_Mutation_p.G451R|MYH11_ENST00000396324.3_Missense_Mutation_p.G458R|MYH11_ENST00000576790.1_Missense_Mutation_p.G451R|MYH11_ENST00000452625.2_Missense_Mutation_p.G458R NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 451 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 AAGGAAGCCCCTTGCCGATGG 0.532000 T CBFB AML 20 59 0 0 0.008871 0 0 PIPSL 266971 broad.mit.edu 37 10 95719309 95719309 + RNA SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:95719309G>C ENST00000480546.1 - 0 1988 NR_002319.2 CCTTCTTGAGGCATTTAGCCA 0.443000 7 28 0 0 0.004482 0 0 LRP1B 53353 broad.mit.edu 37 2 141643783 141643783 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:141643783G>A ENST00000389484.3 - 24 4859 c.3888C>T c.(3886-3888)caC>caT p.H1296H NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1296 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTTGATTGAAGTGAAAATCAA 0.333000 TSP Lung(27;0.18) 11 28 0 0 0.002450 0 0 LCN8 138307 broad.mit.edu 37 9 139650984 139650984 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:139650984G>T ENST00000371688.3 - 3 511 c.216C>A c.(214-216)ttC>ttA p.F72L LCN8_ENST00000482893.1_5'UTR NM_178469.3 NP_848564.2 Q6JVE9 LCN8_HUMAN lipocalin 8 95 transport extracellular region binding endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1) 10 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05) CAGGAAAAGCGAATTTTCCCG 0.517000 61 81 5.10652e-33 1.13122e-32 0.003610 1 0 KRTAP9-2 83899 broad.mit.edu 37 17 39383101 39383101 + Silent SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:39383101C>G ENST00000377721.3 + 1 202 c.195C>G c.(193-195)acC>acG p.T65T KRTAP9-2_ENST00000455970.2_Silent_p.T65T NM_031961.2 NP_114167.2 Q9BYQ4 KRA92_HUMAN keratin associated protein 9-2 65 17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP]. keratin filament protein binding large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) GTAGGACCACCTGCTGCCAGC 0.652000 46 45 0 0 0.003610 0 0 OR4C15 81309 broad.mit.edu 37 11 55322888 55322888 + Missense_Mutation SNP A A C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:55322888A>C ENST00000314644.2 + 1 1106 c.1106A>C c.(1105-1107)aAa>aCa p.K369T NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 315 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 GAAAATATTAAACTTTAAAAA 0.308000 HNSCC(20;0.049) 8 18 0 0 0.003080 0 0 WNT6 7475 broad.mit.edu 37 2 219736268 219736268 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:219736268G>T ENST00000233948.3 + 3 580 c.363G>T c.(361-363)acG>acT p.T121T WNT6_ENST00000486233.1_3'UTR NM_006522.3 NP_006513.1 Q9Y6F9 WNT6_HUMAN wingless-type MMTV integration site family, member 6 121 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity large_intestine(1)|ovary(2)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACGCCGTCACGCAGGCCTGTT 0.741000 4 7 5.16669e-11 8.46548e-11 0.000978 1 0 LRRC37A3 374819 broad.mit.edu 37 17 62856235 62856235 + Silent SNP C C T rs143516328 by1000genomes TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:62856235C>T ENST00000584306.1 - 11 4559 c.4029G>A c.(4027-4029)ccG>ccA p.P1343P LRRC37A3_ENST00000400877.3_Silent_p.P381P|LRRC37A3_ENST00000319651.5_Silent_p.P1343P|LRRC37A3_ENST00000339474.5_Silent_p.P461P|LRRC37A3_ENST00000334962.5_Silent_p.P320P NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1343 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 CTGCAGAGAACGGAAGCCTGT 0.463000 36 135 0 0 0.004289 0 0 POM121L12 285877 broad.mit.edu 37 7 53103817 53103817 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:53103817G>T ENST00000408890.4 + 1 469 c.453G>T c.(451-453)tgG>tgT p.W151C NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 151 p.W151C(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 AGAGCCCCTGGAGATCCCCTG 0.716000 9 16 2.17888e-05 3.03202e-05 0.006214 1 0 ARHGAP20 57569 broad.mit.edu 37 11 110561301 110561301 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:110561301C>G ENST00000260283.4 - 3 441 c.157G>C c.(157-159)Gat>Cat p.D53H ARHGAP20_ENST00000527598.1_Missense_Mutation_p.D17H|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.D27H|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.D27H|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.D30H|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.D17H NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 53 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) AGGGCTTTATCCAGGATAAGA 0.398000 24 56 0 0 0.002780 0 0 CHST5 23563 broad.mit.edu 37 16 75563627 75563627 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:75563627A>G ENST00000336257.3 - 3 2050 c.656T>C c.(655-657)aTc>aCc p.I219T RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.I225T NM_024533.4 NP_078809.2 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 219 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 CAGGTGCACGATGCGCAGGTT 0.706000 21 37 0 0 0.001523 0 0 PTPRO 5800 broad.mit.edu 37 12 15637129 15637129 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:15637129G>T ENST00000281171.4 + 2 627 c.297G>T c.(295-297)gtG>gtT p.V99V PTPRO_ENST00000543886.1_Silent_p.V99V|PTPRO_ENST00000348962.2_Silent_p.V99V NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 99 Fibronectin type-III 1. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) CTCTGGTAGTGGTAAATGGAA 0.383000 18 7 9.16793e-09 1.41089e-08 0.004990 1 0 ARHGAP24 83478 broad.mit.edu 37 4 86921657 86921657 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:86921657G>A ENST00000395184.1 + 10 2495 c.2029G>A c.(2029-2031)Gaa>Aaa p.E677K ARHGAP24_ENST00000264343.4_Missense_Mutation_p.E584K|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.E582K NM_001025616.2 NP_001020787.2 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 677 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1) 24 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) CTTGACTTTGGAAACAGAAAT 0.423000 30 12 0 0 0.002096 0 0 RP1L1 94137 broad.mit.edu 37 8 10465782 10465782 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:10465782C>A ENST00000382483.3 - 4 6049 c.5826G>T c.(5824-5826)gaG>gaT p.E1942D NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1942 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CCTCTTCTGCCTCTTGGGCCT 0.602000 79 85 1.91123e-38 4.30135e-38 0.003610 1 0 C16orf62 57020 broad.mit.edu 37 16 19644488 19644488 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:19644488C>T ENST00000438132.3 + 19 1944 c.1896C>T c.(1894-1896)taC>taT p.Y632Y C16orf62_ENST00000543152.1_Silent_p.Y292Y|C16orf62_ENST00000542263.1_Silent_p.Y565Y|C16orf62_ENST00000448695.1_Silent_p.Y393Y|C16orf62_ENST00000251143.5_Silent_p.Y543Y|C16orf62_ENST00000417362.2_Silent_p.Y476Y NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 543 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 AAGATTCCTACCCCCAGGTAA 0.408000 30 59 0 0 0.002836 0 0 SAFB2 9667 broad.mit.edu 37 19 5610692 5610692 + Missense_Mutation SNP T T G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:5610692T>G ENST00000252542.4 - 8 1417 c.1153A>C c.(1153-1155)Aag>Cag p.K385Q NM_014649.2 NP_055464.1 Q14151 SAFB2_HUMAN scaffold attachment factor B2 385 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) TTTTCTTCCTTAAAAGAGCTA 0.323000 10 9 0 0 0.006214 0 0 FAM73B 84895 broad.mit.edu 37 9 131802959 131802959 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:131802959C>T ENST00000277475.5 + 2 272 c.86C>T c.(85-87)aCg>aTg p.T29M FAM73B_ENST00000358369.4_Missense_Mutation_p.T29M|FAM73B_ENST00000406926.2_Missense_Mutation_p.T29M|FAM73B_ENST00000474534.1_3'UTR Q7L4E1 FA73B_HUMAN family with sequence similarity 73, member B 29 integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1) 13 CTGTACACGACGTTTGGGCAG 0.617000 8 21 0 0 0.006214 0 0 GPBP1L1 60313 broad.mit.edu 37 1 46120352 46120352 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:46120352T>A ENST00000355105.3 - 6 1700 c.340A>T c.(340-342)Aca>Tca p.T114S GPBP1L1_ENST00000290795.3_Missense_Mutation_p.T114S NM_021639.4 NP_067652.1 Q9HC44 GPBL1_HUMAN GC-rich promoter binding protein 1-like 1 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding GPBP1L1/MAST2_ENST00000361297(2) breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1) 21 Acute lymphoblastic leukemia(166;0.155) TGGTTCCCTGTGCCACCTCCA 0.512000 33 16 0 0 0.003271 0 0 FKBP9L 360132 broad.mit.edu 37 7 55755564 55755564 + RNA SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:55755564A>T ENST00000455909.1 - 0 442 NR_027340.1|NR_027342.1 FK506 binding protein 9-like endometrium(1)|kidney(1)|lung(3) 5 GTCCATCCCCAACACAACTTG 0.507000 21 62 0 0 0.001882 0 0 CACNA1E 777 broad.mit.edu 37 1 181724430 181724430 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:181724430T>C ENST00000526775.1 + 27 3994 c.3829T>C c.(3829-3831)Tac>Cac p.Y1277H CACNA1E_ENST00000367573.2_Missense_Mutation_p.Y1296H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.Y1296H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Y1228H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.Y1277H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.Y1247H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.Y903H NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1296 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.Y1296H(1) 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 ACTCATTGTGTACAAGCTCTT 0.478000 27 101 0 0 0.005443 0 0 OR5D16 390144 broad.mit.edu 37 11 55607040 55607040 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:55607040C>T ENST00000378396.1 + 1 813 c.813C>T c.(811-813)caC>caT p.H271H NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) ACTCCAGGCACACAGTCAAAG 0.488000 17 45 0 0 0.004007 0 0 CD36 948 broad.mit.edu 37 7 80286010 80286010 + Missense_Mutation SNP C C T rs150037612 byFrequency TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:80286010C>T ENST00000435819.1 + 7 959 c.275C>T c.(274-276)aCg>aTg p.T92M CD36_ENST00000432207.1_Missense_Mutation_p.T92M|CD36_ENST00000394788.3_Missense_Mutation_p.T92M|CD36_ENST00000538969.1_Missense_Mutation_p.T92M|CD36_ENST00000534394.1_Missense_Mutation_p.T16M|CD36_ENST00000309881.7_Missense_Mutation_p.T92M|CD36_ENST00000433696.2_Missense_Mutation_p.T92M|CD36_ENST00000544133.1_Missense_Mutation_p.T92M|CD36_ENST00000447544.2_Missense_Mutation_p.T92M P16671 CD36_HUMAN CD36 molecule (thrombospondin receptor) 92 cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation integral to plasma membrane|membrane fraction|platelet alpha granule membrane lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1) 21 GGTCCTTATACGTACAGGTGA 0.388000 23 63 0 0 0.002780 0 0 CNTN1 1272 broad.mit.edu 37 12 41323651 41323651 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:41323651G>T ENST00000551295.2 + 7 667 c.550G>T c.(550-552)Gat>Tat p.D184Y CNTN1_ENST00000547702.1_Missense_Mutation_p.D184Y|CNTN1_ENST00000547849.1_Missense_Mutation_p.D184Y|CNTN1_ENST00000348761.2_Missense_Mutation_p.D173Y|CNTN1_ENST00000347616.1_Missense_Mutation_p.D184Y|CNTN1_ENST00000360099.3_Missense_Mutation_p.D184Y NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 184 Ig-like C2-type 2. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TATCACAATGGATAAACGGCG 0.383000 29 82 4.87955e-14 8.47276e-14 0.005443 1 0 SLIT3 6586 broad.mit.edu 37 5 168233555 168233555 + Silent SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:168233555G>C ENST00000519560.1 - 9 1250 c.831C>G c.(829-831)tcC>tcG p.S277S SLIT3_ENST00000332966.8_Silent_p.S277S|SLIT3_ENST00000404867.3_Silent_p.S277S NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 277 LRRNT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGCAGGAGATGGAGTTGGCAT 0.587000 49 16 0 0 0.003610 0 0 KIF5A 3798 broad.mit.edu 37 12 57970645 57970645 + Splice_Site SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:57970645C>A ENST00000455537.2 + 20 2574 c.2300_splice c.e20+1 p.T767_splice KIF5A_ENST00000286452.5_Splice_Site_p.T678_splice NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 767 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 CAGGAGCTGACGTGAGTGGCA 0.493000 15 23 0.000308642 0.000413756 0.003163 1 0 ACTN2 88 broad.mit.edu 37 1 236925788 236925788 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:236925788C>T ENST00000366578.4 + 21 2720 c.2554C>T c.(2554-2556)Cgg>Tgg p.R852W ACTN2_ENST00000542672.1_Missense_Mutation_p.R852W|ACTN2_ENST00000546208.1_Missense_Mutation_p.R346W NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 852 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding p.R852W(1) endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GGAGCTGCGTCGGGAGCTGCC 0.547000 26 38 0 0 0.005443 0 0 IGHV4-28 28400 broad.mit.edu 37 14 106780624 106780624 + RNA SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:106780624G>T ENST00000390612.2 - 0 311 TGAGGGACGGGTTGTAGTAGG 0.562000 18 457 9.5628e-27 2.03622e-26 0.003610 1 0 ZNF132 7691 broad.mit.edu 37 19 58945522 58945522 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:58945522G>T ENST00000254166.3 - 3 1689 c.1289C>A c.(1288-1290)cCg>cAg p.P430Q NM_003433.3 NP_003424.3 P52740 ZN132_HUMAN zinc finger protein 132 430 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) GCATTCATACGGTCTTTCTCC 0.468000 52 40 5.13769e-22 1.03593e-21 0.003610 1 0 LASP1 3927 broad.mit.edu 37 17 37070622 37070622 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:37070622C>G ENST00000318008.6 + 5 733 c.402C>G c.(400-402)agC>agG p.S134R LASP1_ENST00000435347.3_Missense_Mutation_p.S134R|LASP1_ENST00000433206.2_Missense_Mutation_p.S78R NM_006148.2 NP_006139.1 Q14847 LASP1_HUMAN LIM and SH3 protein 1 134 cortical actin cytoskeleton ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding breast(1)|large_intestine(2)|lung(4)|urinary_tract(2) 9 TGGGCCCTAGCGGGGGCGAGG 0.612000 T MLL AML 12 6 0 0 0.003163 0 0 FLG 2312 broad.mit.edu 37 1 152278628 152278628 + Missense_Mutation SNP A A C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:152278628A>C ENST00000368799.1 - 3 8769 c.8734T>G c.(8734-8736)Tcc>Gcc p.S2912A FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2912 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGTTTCTGGAAGCAGACCCA 0.567000 Ichthyosis 43 301 0 0 0.003610 0 0 NOVA1 4857 broad.mit.edu 37 14 26917495 26917495 + Silent SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:26917495A>G ENST00000539517.2 - 5 1511 c.1194T>C c.(1192-1194)taT>taC p.Y398Y NOVA1_ENST00000267422.7_Silent_p.Y276Y|NOVA1_ENST00000465357.2_Silent_p.Y374Y NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 401 Ala-rich. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) CAGCTCCAAAATATCCATTGG 0.517000 11 44 0 0 0.000978 0 0 CRYGC 1420 broad.mit.edu 37 2 208992948 208992948 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:208992948C>A ENST00000282141.3 - 3 541 c.504G>T c.(502-504)cgG>cgT p.R168R NM_020989.3 NP_066269.1 P07315 CRGC_HUMAN crystallin, gamma C 168 Beta/gamma crystallin 'Greek key' 4. visual perception cytoplasm|nucleus protein binding|structural constituent of eye lens NS(1)|endometrium(1)|large_intestine(2)|lung(5) 9 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) CCACCACTCTCCGCAAAGAGC 0.502000 53 217 7.89702e-26 1.65653e-25 0.003610 1 0 ZFYVE20 64145 broad.mit.edu 37 3 15124018 15124018 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:15124018G>A ENST00000253699.3 - 9 1309 c.696C>T c.(694-696)agC>agT p.S232S ZFYVE20_ENST00000476527.2_Silent_p.S232S|ZFYVE20_ENST00000435849.3_Intron|ZFYVE20_ENST00000449964.2_Intron NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 232 Necessary for the correct targeting to endosomes.|Ser-rich. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 TGCTCATGCTGCTGATGCTGC 0.607000 32 13 0 0 0.002836 0 0 UST 10090 broad.mit.edu 37 6 149340274 149340274 + Splice_Site SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:149340274G>A ENST00000367463.4 + 6 784 c.e6-1 NM_005715.2 NP_005706.1 Q9Y2C2 UST_HUMAN uronyl-2-sulfotransferase protein sulfation Golgi membrane|integral to membrane sulfotransferase activity breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2) 12 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138) TTCTCTTCTAGGATATCAATG 0.403000 22 45 0 0 0.003330 0 0 TSKU 25987 broad.mit.edu 37 11 76507537 76507537 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:76507537C>G ENST00000527881.1 + 2 1903 c.877C>G c.(877-879)Ccc>Gcc p.P293A TSKU_ENST00000333090.4_Missense_Mutation_p.P293A Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 293 extracellular region p.P293A(1) NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) CAACCTGGTGCCCCTGCCTGA 0.682000 27 20 0 0 0.005443 0 0 SCN8A 6334 broad.mit.edu 37 12 52159490 52159490 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:52159490C>A ENST00000354534.5 + 16 2758 c.2580C>A c.(2578-2580)acC>acA p.T860T SCN8A_ENST00000545061.1_Silent_p.T860T|SCN8A_ENST00000550891.1_Silent_p.T860T NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 860 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CCTGGCCCACCCTGAACATGC 0.438000 14 20 2.32078e-09 3.68047e-09 0.003163 1 0 C8A 731 broad.mit.edu 37 1 57320623 57320623 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:57320623G>T ENST00000361249.3 + 1 145 c.49G>T c.(49-51)Ggg>Tgg p.G17W NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 17 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 TTGTCAGCCTGGGGTAACTGC 0.443000 15 3 4.75885e-15 8.57982e-15 0.004990 1 0 KIF26A 26153 broad.mit.edu 37 14 104640563 104640563 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:104640563G>T ENST00000315264.7 + 10 2070 c.1692G>T c.(1690-1692)tcG>tcT p.S564S KIF26A_ENST00000423312.2_Silent_p.S703S Q9ULI4 KI26A_HUMAN kinesin family member 26A 703 Kinesin-motor. blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) CCCACGTGTCGGATGCGCCAG 0.682000 10 5 0.000442599 0.000590132 0.006214 1 0 GPR128 84873 broad.mit.edu 37 3 100374024 100374024 + Splice_Site SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:100374024G>T ENST00000273352.3 + 12 1993 c.1726_splice c.e12+1 p.W575_splice GPR128_ENST00000475887.1_Splice_Site_p.W280_splice|GPR128_ENST00000481506.1_3'UTR NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 575 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 TAATTGGATGGGGTAAGTGTT 0.408000 54 10 2.73381e-35 6.08334e-35 0.003610 1 0 OR7G1 125962 broad.mit.edu 37 19 9226437 9226437 + Translation_Start_Site SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:9226437C>T ENST00000293614.1 - 1 2 c.3G>A c.(1-3)atG>atA p.M1I OR7G1_ENST00000541538.1_Start_Codon_SNP_p.M1I Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 TTCTGGGTCCCATGTTTTTGA 0.418000 40 18 0 0 0.004878 0 0 KANSL1L 151050 broad.mit.edu 37 2 210888902 210888902 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:210888902C>A ENST00000281772.9 - 14 2851 c.2588G>T c.(2587-2589)gGa>gTa p.G863V KANSL1L_ENST00000418791.1_Missense_Mutation_p.G821V NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 863 CAAGTCCTGTCCTTCAACATT 0.383000 10 32 0.000673444 0.000889522 0.008291 1 0 PITPNM3 83394 broad.mit.edu 37 17 6364774 6364774 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:6364774C>A ENST00000262483.8 - 18 2496 c.2409G>T c.(2407-2409)caG>caT p.Q803H ACKR6_ENST00000576664.1_5'UTR|ACKR6_ENST00000421306.3_Missense_Mutation_p.Q767H NM_031220.3 NP_112497.2 AGATCATGCCCTGTGGGAAGT 0.607000 76 19 3.00167e-28 6.44707e-28 0.003610 1 0 ITGAV 3685 broad.mit.edu 37 2 187529932 187529932 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:187529932A>G ENST00000261023.3 + 21 2427 c.2153A>G c.(2152-2154)aAg>aGg p.K718R ITGAV_ENST00000433736.2_Missense_Mutation_p.K672R|ITGAV_ENST00000374907.3_Missense_Mutation_p.K682R|AC017101.10_ENST00000453665.1_RNA NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 718 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) AACCCAATGAAGGCTGGAACT 0.363000 10 267 0 0 0.000978 0 0 RYR1 6261 broad.mit.edu 37 19 38990296 38990296 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:38990296C>G ENST00000355481.4 + 44 7180 c.7049C>G c.(7048-7050)gCc>gGc p.A2350G RYR1_ENST00000359596.3_Missense_Mutation_p.A2350G|RYR1_ENST00000360985.3_Missense_Mutation_p.A2350G NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2350 6 X approximate repeats. A -> T (in MHS1; reveals an altered calcium dependence and increased caffeine sensitivity). muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GAGGAGAACGCCAATGTGGTG 0.667000 3 17 0 0 0.004672 0 0 CBLB 868 broad.mit.edu 37 3 105412398 105412398 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:105412398T>C ENST00000264122.4 - 13 2315 c.1994A>G c.(1993-1995)tAt>tGt p.Y665C CBLB_ENST00000405772.1_Missense_Mutation_p.Y665C|CBLB_ENST00000394027.3_Missense_Mutation_p.Y687C|CBLB_ENST00000403724.1_Missense_Mutation_p.Y665C NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 665 Pro-rich. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 AGGAACATCATATTCTTCACT 0.418000 Mis S AML 33 6 0 0 0.005524 0 0 OBSCN 84033 broad.mit.edu 37 1 228553830 228553830 + Silent SNP G G A rs74144615 by1000genomes TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:228553830G>A ENST00000570156.2 + 94 22064 c.21990G>A c.(21988-21990)acG>acA p.T7330T OBSCN_ENST00000366707.4_Silent_p.T4007T|OBSCN_ENST00000422127.1_Silent_p.T6373T NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6373 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CAGGCGGAACGGCCCAATTCG 0.637000 25 43 0 0 0.003954 0 0 RYR2 6262 broad.mit.edu 37 1 237880573 237880573 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:237880573G>T ENST00000366574.2 + 72 10716 c.10399G>T c.(10399-10401)Gta>Tta p.V3467L RYR2_ENST00000360064.6_Missense_Mutation_p.V3465L|RYR2_ENST00000542537.1_Missense_Mutation_p.V3451L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3467 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTCTCTGATTGTAGCAGCTCT 0.498000 16 18 2.31682e-05 3.21492e-05 0.003163 1 0 COL6A6 131873 broad.mit.edu 37 3 130282295 130282295 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:130282295G>A ENST00000358511.6 + 2 479 c.448G>A c.(448-450)Gca>Aca p.A150T COL6A6_ENST00000453409.2_Missense_Mutation_p.A150T NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 150 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TGTGGAAGAGGCATCAAAGGC 0.493000 28 10 0 0 0.006320 0 0 FTHL17 53940 broad.mit.edu 37 X 31089890 31089890 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:31089890C>A ENST00000359202.3 - 1 280 c.181G>T c.(181-183)Gac>Tac p.D61Y NM_031894.2 NP_114100.1 Q9BXU8 FHL17_HUMAN ferritin, heavy polypeptide-like 17 61 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport ferric iron binding|oxidoreductase activity endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 23 ATTTTGTCGTCCGACAGGCGC 0.577000 29 30 6.04164e-23 1.22822e-22 0.002096 1 0 OR2M3 127062 broad.mit.edu 37 1 248366371 248366371 + Translation_Start_Site SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:248366371T>C ENST00000456743.1 + 1 40 c.2T>C c.(1-3)aTg>aCg p.M1T NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) ATACACATCATGGCAAGGGAG 0.438000 49 87 0 0 0.003610 0 0 C7orf60 154743 broad.mit.edu 37 7 112555399 112555399 + Missense_Mutation SNP T T G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:112555399T>G ENST00000297145.4 - 2 429 c.264A>C c.(262-264)aaA>aaC p.K88N C7orf60_ENST00000485446.1_5'UTR NM_152556.2 NP_689769.2 Q1RMZ1 CG060_HUMAN chromosome 7 open reading frame 60 88 breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 17 CCTCACAAGTTTTTGCCCAAT 0.348000 81 11 0 0 0.003610 0 0 WDR77 79084 broad.mit.edu 37 1 111983962 111983962 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:111983962G>A ENST00000235090.5 - 10 1125 c.919C>T c.(919-921)Ccg>Tcg p.P307S WDR77_ENST00000497278.1_5'UTR|WDR77_ENST00000411751.2_Missense_Mutation_p.P243S NM_024102.2 NP_077007.1 Q9BQA1 MEP50_HUMAN WD repeat domain 77 307 ncRNA metabolic process|spliceosomal snRNP assembly cytosol|nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding p.P307>?(1) NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) TGATTGAGCGGGGACCAAGTC 0.542000 39 53 0 0 0.008740 0 0 DNAH1 25981 broad.mit.edu 37 3 52428648 52428648 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:52428648G>T ENST00000420323.2 + 67 11055 c.10794G>T c.(10792-10794)cgG>cgT p.R3598R NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3663 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CAGAATTCCGGGTCATCTTCG 0.577000 26 3 4.87955e-14 8.47276e-14 0.005443 1 0 CUEDC1 404093 broad.mit.edu 37 17 55950055 55950055 + Silent SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:55950055C>G ENST00000577830.1 - 5 1166 c.753G>C c.(751-753)cgG>cgC p.R251R CUEDC1_ENST00000360238.2_Silent_p.R251R|CUEDC1_ENST00000407144.2_Silent_p.R251R|CUEDC1_ENST00000577840.1_Silent_p.R114R NM_001271875.1 NP_001258804.1 Q9NWM3 CUED1_HUMAN CUE domain containing 1 251 endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 AGTCGCGGTTCCGTTGCAGCT 0.622000 12 38 0 0 0.001368 0 0 BARX2 8538 broad.mit.edu 37 11 129306860 129306860 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:129306860C>A ENST00000281437.4 + 2 498 c.402C>A c.(400-402)cgC>cgA p.R134R BARX2_ENST00000526127.1_5'UTR NM_003658.4 NP_003649.2 Q9UMQ3 BARX2_HUMAN BARX homeobox 2 134 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) AGAAGCCCCGCCGGAGTCGCA 0.632000 15 10 0.000422831 0.000566067 0.004007 1 0 SLC6A13 6540 broad.mit.edu 37 12 369210 369210 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:369210G>C ENST00000343164.4 - 2 61 c.9C>G c.(7-9)agC>agG p.S3R SLC6A13_ENST00000436453.1_Missense_Mutation_p.S3R|SLC6A13_ENST00000445055.2_Missense_Mutation_p.S3R NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 3 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity 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) CTGAGACCCTGCTATCCATCC 0.512000 30 141 0 0 0.008361 0 0 SQRDL 58472 broad.mit.edu 37 15 45968317 45968317 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr15:45968317G>T ENST00000260324.7 + 6 1059 c.673G>T c.(673-675)Gcc>Tcc p.A225S RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.A225S|SQRDL_ENST00000568606.1_Missense_Mutation_p.A225S NM_021199.2 NP_067022.1 Q9Y6N5 SQRD_HUMAN sulfide quinone reductase-like (yeast) 225 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 11 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) GCGATCCAAGGCCAATATCAT 0.418000 49 35 8.72198e-27 1.86119e-26 0.003610 1 0 PCDHB4 56131 broad.mit.edu 37 5 140501789 140501789 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:140501789A>T ENST00000194152.1 + 1 209 c.209A>T c.(208-210)gAc>gTc p.D70V NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 70 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCTGACGATGACAAGCAGCGT 0.567000 32 9 0 0 0.001786 0 0 PRMT5 10419 broad.mit.edu 37 14 23390185 23390185 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:23390185C>A ENST00000324366.8 - 17 2065 c.1842G>T c.(1840-1842)gaG>gaT p.E614D PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.E570D|PRMT5_ENST00000216350.8_Missense_Mutation_p.E553D|PRMT5_ENST00000397441.2_Missense_Mutation_p.E597D|PRMT5_ENST00000538452.1_Missense_Mutation_p.E508D|PRMT5_ENST00000397440.4_Missense_Mutation_p.E443D NM_006109.3 NP_006100.2 O14744 ANM5_HUMAN protein arginine methyltransferase 5 614 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 25 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) TCACAGCCCACTCATACCACA 0.527000 17 56 9.16793e-09 1.41089e-08 0.004990 1 0 HYDIN 54768 broad.mit.edu 37 16 70908286 70908286 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:70908286G>T ENST00000393567.2 - 64 11020 c.10870C>A c.(10870-10872)Ccc>Acc p.P3624T NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3624 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TGGCTGGTGGGGGCCACCAGT 0.502000 12 50 3.45872e-05 4.78601e-05 0.004007 1 0 KIF5A 3798 broad.mit.edu 37 12 57966495 57966495 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:57966495G>A ENST00000455537.2 + 15 1976 c.1702G>A c.(1702-1704)Ggg>Agg p.G568R KIF5A_ENST00000286452.5_Missense_Mutation_p.G479R NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 568 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 TGTGGGCAACGGGGAGATTAA 0.547000 48 90 0 0 0.003610 0 0 CTAGE5 4253 broad.mit.edu 37 14 39790155 39790155 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:39790155C>A ENST00000553728.1 + 23 3385 c.3172C>A c.(3172-3174)Cca>Aca p.P1058T CTAGE5_ENST00000557038.1_Missense_Mutation_p.P443T|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P494T|CTAGE5_ENST00000280083.3_Missense_Mutation_p.P523T|CTAGE5_ENST00000348007.3_Intron|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P494T|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P511T|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P528T|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P448T|CTAGE5_ENST00000341502.5_Missense_Mutation_p.P523T|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P494T TGGTCCCTCACCATTGGGTTG 0.443000 24 106 5.61819e-17 1.05328e-16 0.005443 1 0 ABHD2 11057 broad.mit.edu 37 15 89738464 89738464 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr15:89738464G>T ENST00000352732.5 + 11 1608 c.1088G>T c.(1087-1089)cGa>cTa p.R363L ABHD2_ENST00000565973.1_Missense_Mutation_p.R363L|ABHD2_ENST00000355100.3_Missense_Mutation_p.R363L NM_152924.4 NP_690888.1 P08910 ABHD2_HUMAN abhydrolase domain containing 2 363 integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1) 23 Lung NSC(78;0.0472)|all_lung(78;0.089) GCAGAGAAACGAGAGAACGTC 0.567000 13 40 4.3838e-07 6.47413e-07 0.001855 1 0 DACT1 51339 broad.mit.edu 37 14 59113481 59113481 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:59113481G>T ENST00000395153.3 + 4 2176 c.2029G>T c.(2029-2031)Gcc>Tcc p.A677S DACT1_ENST00000556859.1_Missense_Mutation_p.A433S|DACT1_ENST00000395151.3_Missense_Mutation_p.A433S|DACT1_ENST00000541264.2_Missense_Mutation_p.A433S|DACT1_ENST00000335867.4_Missense_Mutation_p.A714S NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 714 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 TCTGCCCTACGCCAGCCCCTA 0.677000 42 7 8.01111e-26 1.66983e-25 0.002522 1 0 CPS1 1373 broad.mit.edu 37 2 211515147 211515147 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:211515147G>T ENST00000233072.5 + 28 3661 c.3465G>T c.(3463-3465)gcG>gcT p.A1155A CPS1_ENST00000451903.2_Silent_p.A704A|CPS1_ENST00000430249.2_Silent_p.A1161A NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1155 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TAGAAGAGGCGACTAGAGTTT 0.368000 24 32 3.6726e-16 6.7823e-16 0.003954 1 0 CRNN 49860 broad.mit.edu 37 1 152384655 152384655 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:152384655C>G ENST00000271835.3 - 2 117 c.55G>C c.(55-57)Gca>Cca p.A19P RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 19 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TCCGTCCTTGCATAGCGCCTG 0.522000 60 91 0 0 0.003610 0 0 AHNAK 79026 broad.mit.edu 37 11 62292378 62292378 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:62292378C>G ENST00000378024.4 - 5 9785 c.9511G>C c.(9511-9513)Gac>Cac p.D3171H AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3171 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AGGTTCACGTCCACTTCTGGA 0.502000 195 167 0 0 0.003610 0 0 IGKV1D-43 28891 broad.mit.edu 37 2 90249340 90249340 + RNA SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:90249340G>T ENST00000468879.1 + 0 477 ACCATCAGCAGCCTGCAGCCT 0.473000 34 168 3.03874e-20 6.02866e-20 0.003271 1 0 KIF2B 84643 broad.mit.edu 37 17 51900892 51900892 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:51900892G>T ENST00000268919.4 + 1 654 c.498G>T c.(496-498)ctG>ctT p.L166L NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 166 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GCAGGCGGCTGCAGCAGGAGA 0.547000 46 20 7.05377e-20 1.39104e-19 0.003610 1 0 OR2L13 284521 broad.mit.edu 37 1 248262910 248262910 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:248262910C>T ENST00000366478.2 + 3 570 c.233C>T c.(232-234)cCc>cTc p.P78L OR2L13_ENST00000358120.2_Missense_Mutation_p.P78L NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 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;0.0132) ACCACCGTCCCCAAGATGGCG 0.537000 50 72 0 0 0.003610 0 0 LPL 4023 broad.mit.edu 37 8 19813423 19813423 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:19813423G>A ENST00000311322.8 + 6 1317 c.847G>A c.(847-849)Gaa>Aaa p.E283K NM_000237.2 NP_000228.1 P06858 LIPL_HUMAN lipoprotein lipase 283 fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) GTTGAATGAAGAAAATCCAAG 0.468000 28 33 0 0 0.006320 0 0 KMT2C 58508 broad.mit.edu 37 7 151947003 151947003 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:151947003G>A ENST00000355193.2 - 13 1989 c.1771C>T c.(1771-1773)Cat>Tat p.H591Y KMT2C_ENST00000262189.6_Missense_Mutation_p.H591Y lysine (K)-specific methyltransferase 2C TCTGAGGGATGACTCTTCTGT 0.368000 14 52 0 0 0.002450 0 0 CDH2 1000 broad.mit.edu 37 18 25565085 25565085 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:25565085C>A ENST00000269141.3 - 13 2511 c.2088G>T c.(2086-2088)ctG>ctT p.L696L CDH2_ENST00000399380.3_Silent_p.L665L NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 696 Cadherin 5. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CCTTCACACGCAGGATGGAAA 0.468000 17 27 8.34094e-07 1.21546e-06 0.008871 1 0 PCDHA7 56141 broad.mit.edu 37 5 140214890 140214890 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:140214890A>G ENST00000525929.1 + 1 922 c.922A>G c.(922-924)Atg>Gtg p.M308V PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.M308V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATAGGACATATGGATTTTGA 0.448000 5 27 0 0 0.001855 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768676 31768676 + Missense_Mutation SNP G G A rs143305127 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:31768676G>A ENST00000240587.4 - 2 2350 c.2023C>T c.(2023-2025)Cgg>Tgg p.R675W NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 675 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) CACCCATCCCGCGGGGGGCTG 0.652000 8 29 0 0 0.003080 0 0 NUP210L 91181 broad.mit.edu 37 1 154062039 154062039 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:154062039C>A ENST00000368559.3 - 16 2290 c.2219G>T c.(2218-2220)gGt>gTt p.G740V NUP210L_ENST00000271854.3_Missense_Mutation_p.G740V NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 740 integral to membrane 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) GTTCAGGACACCTGGATGATT 0.448000 51 69 1.22102e-19 2.39834e-19 0.003610 1 0 CBLN4 140689 broad.mit.edu 37 20 54579055 54579055 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:54579055G>T ENST00000064571.2 - 1 1473 c.173C>A c.(172-174)tCc>tAc p.S58Y NM_080617.4 NP_542184.1 Q9NTU7 CBLN4_HUMAN cerebellin 4 precursor 58 cell junction|extracellular region|synapse endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1) 17 Colorectal(105;0.202) CCCCAGCGGGGAGGAAGAGGA 0.657000 37 46 1.06647e-15 1.9585e-15 0.003755 1 0 COL14A1 7373 broad.mit.edu 37 8 121344966 121344966 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:121344966G>C ENST00000297848.3 + 42 5047 c.4777G>C c.(4777-4779)Gga>Cga p.G1593R COL14A1_ENST00000309791.4_Missense_Mutation_p.G1593R|COL14A1_ENST00000247781.3_Missense_Mutation_p.G1498R NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1593 Triple-helical region 1 (COL2). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AGGCGCCCTGGGACCACCTGT 0.502000 10 32 0 0 0.000978 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52698947 52698947 + Splice_Site SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:52698947A>T ENST00000287727.3 + 3 241 c.70_splice c.e3+1 p.E23_splice ZFYVE9_ENST00000371591.1_Splice_Site_p.E23_splice|ZFYVE9_ENST00000361625.1_Splice_Site_p.E23_splice|ZFYVE9_ENST00000357206.2_Splice_Site_p.E23_splice NM_004799.2 NP_004790.2 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 23 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 AACAAAACGAAGGTGAGAATT 0.363000 22 8 0 0 0.003330 0 0 FAM47A 158724 broad.mit.edu 37 X 34149868 34149868 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:34149868G>A ENST00000346193.3 - 1 579 c.528C>T c.(526-528)ccC>ccT p.P176P NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 176 Pro-rich. NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 CAGGCTCAGTGGGTACCTCTG 0.582000 34 6 0 0 0.002445 0 0 TRIO 7204 broad.mit.edu 37 5 14378120 14378120 + Splice_Site SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:14378120G>T ENST00000344204.4 + 20 3355 c.e20-1 TRIO_ENST00000537187.1_Splice_Site|TRIO_ENST00000509967.2_Splice_Site NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TTTTCTCTCAGATATCTTGAA 0.393000 10 26 3.86212e-05 5.32186e-05 0.008291 1 0 BRIP1 83990 broad.mit.edu 37 17 59878764 59878764 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:59878764C>T ENST00000259008.2 - 8 1257 c.990G>A c.(988-990)ggG>ggA p.G330G BRIP1_ENST00000577598.1_Silent_p.G330G NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 330 Helicase ATP-binding. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 CTTTGCACATCCCTTGGAAAG 0.393000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 72 54 0 0 0.003610 0 0 AMOTL1 154810 broad.mit.edu 37 11 94602564 94602564 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:94602564G>T ENST00000433060.2 + 12 2831 c.2690G>T c.(2689-2691)gGc>gTc p.G897V AMOTL1_ENST00000317837.9_Missense_Mutation_p.G484V|AMOTL1_ENST00000317829.8_Missense_Mutation_p.G847V NM_130847.2 NP_570899.1 Q8IY63 AMOL1_HUMAN angiomotin like 1 897 cytoplasm|tight junction identical protein binding 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) CCCAGCCGCGGCCGGCTGAGC 0.642000 9 3 0.000442599 0.000590132 0.006214 1 0 NCKAP1L 3071 broad.mit.edu 37 12 54928933 54928933 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:54928933T>A ENST00000293373.6 + 27 2987 c.2908T>A c.(2908-2910)Tgt>Agt p.C970S NCKAP1L_ENST00000545638.2_Missense_Mutation_p.C920S NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 970 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 AGGTGTGGGCTGTGACATTGA 0.507000 32 52 0 0 0.004878 0 0 HCN1 348980 broad.mit.edu 37 5 45303797 45303797 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:45303797C>A ENST00000303230.4 - 6 1579 c.1522G>T c.(1522-1524)Gtg>Ttg p.V508L NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 508 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.V508M(1) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TTTTTACCCACGGCTCCTTCT 0.393000 59 130 6.09941e-20 1.20524e-19 0.003610 1 0 ARAP2 116984 broad.mit.edu 37 4 36161118 36161118 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:36161118C>A ENST00000303965.4 - 14 2941 c.2452G>T c.(2452-2454)Gct>Tct p.A818S NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 818 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 ACTACAGCAGCACATAGAGCC 0.413000 29 11 5.60225e-13 9.55962e-13 0.001786 1 0 PXDNL 137902 broad.mit.edu 37 8 52366215 52366215 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:52366215C>A ENST00000356297.4 - 10 1213 c.1113G>T c.(1111-1113)ctG>ctT p.L371L PXDNL_ENST00000543296.1_Silent_p.L371L NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 371 Ig-like C2-type 2. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TGGATCCATCCAGCTCCAATC 0.502000 59 46 5.82218e-30 1.26703e-29 0.003610 1 0 PRRC2B 84726 broad.mit.edu 37 9 134354714 134354714 + Nonsense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:134354714G>T ENST00000357304.4 + 18 4889 c.4834G>T c.(4834-4836)Gag>Tag p.E1612* PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Nonsense_Mutation_p.E918*|PRRC2B_ENST00000458550.1_Nonsense_Mutation_p.E918* NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 1612 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 CTTATGTCTGGAGCAAGGTGA 0.572000 13 10 1.5842e-08 2.41915e-08 0.001855 1 0 NMUR1 10316 broad.mit.edu 37 2 232393341 232393341 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:232393341C>A ENST00000305141.4 - 2 524 c.391G>T c.(391-393)Gtt>Ttt p.V131F NM_006056.4 NP_006047.3 Q9HB89 NMUR1_HUMAN neuromedin U receptor 1 131 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction integral to plasma membrane|membrane fraction neuromedin U receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1) 24 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) CAGCCACCAACGCCCAGCAGG 0.612000 36 26 2.42023e-17 4.55465e-17 0.003271 1 0 PPFIA2 8499 broad.mit.edu 37 12 81777829 81777829 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:81777829G>T ENST00000550584.2 - 8 1252 c.957C>A c.(955-957)aaC>aaA p.N319K PPFIA2_ENST00000552948.1_Missense_Mutation_p.N319K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.N245K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.N166K|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000443686.3_Missense_Mutation_p.N220K|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000549325.1_Missense_Mutation_p.N301K|PPFIA2_ENST00000549396.1_Missense_Mutation_p.N319K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.N301K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.N319K NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 245 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 GATACTTGGTGTTCATTTCTT 0.423000 11 18 2.80697e-09 4.42311e-09 0.000978 1 0 USH2A 7399 broad.mit.edu 37 1 216243576 216243576 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:216243576C>G ENST00000366943.2 - 30 6302 c.5916G>C c.(5914-5916)gaG>gaC p.E1972D USH2A_ENST00000307340.3_Missense_Mutation_p.E1972D O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1972 Fibronectin type-III 6. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding 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) CCCAGGTCACCTCAATGCTGT 0.483000 HNSCC(13;0.011) 37 37 0 0 0.002522 0 0 CST9 128822 broad.mit.edu 37 20 23584167 23584167 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:23584167G>T ENST00000376971.3 - 2 471 c.460C>A c.(460-462)Ccg>Acg p.P154T NM_001008693.2 NP_001008693.2 Q5W186 CST9_HUMAN cystatin 9 (testatin) 154 extracellular region cysteine-type endopeptidase inhibitor activity central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 12 Colorectal(13;0.0993) TTGTCCCTCGGAATGGCTTTG 0.582000 12 32 4.93089e-13 8.44319e-13 0.002450 1 0 SSPO 23145 broad.mit.edu 37 7 149482053 149482053 + RNA SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:149482053C>T ENST00000378016.2 + 0 2841 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ATCACTCCTGCCCTGCAGGCA 0.622000 27 6 0 0 0.004656 0 0 GABRG2 2566 broad.mit.edu 37 5 161580279 161580279 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:161580279C>A ENST00000356592.3 + 10 1793 c.1333C>A c.(1333-1335)Cgc>Agc p.R445S GABRG2_ENST00000361925.4_Missense_Mutation_p.R437S|GABRG2_ENST00000414552.2_Missense_Mutation_p.R485S|GABRG2_ENST00000393933.4_Missense_Mutation_p.R342S NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 437 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) GATACATATCCGCATTGCCAA 0.498000 109 25 6.29576e-42 1.43323e-41 0.003610 1 0 SHANK3 85358 broad.mit.edu 37 22 51160861 51160861 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr22:51160861G>T ENST00000414786.2 + 21 4785 c.4558G>T c.(4558-4560)Gct>Tct p.A1520S SHANK3_ENST00000445220.2_Missense_Mutation_p.A1536S|SHANK3_ENST00000262795.3_Missense_Mutation_p.A1550S F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1550 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) CATCGCAGCAGCTCGGTGAGC 0.637000 14 12 1.99824e-07 2.98677e-07 0.004990 1 0 GRID1 2894 broad.mit.edu 37 10 87628928 87628928 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:87628928C>A ENST00000327946.7 - 6 875 c.790G>T c.(790-792)Gac>Tac p.D264Y NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 264 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) ATCTCCGGGTCACTGATTTCC 0.502000 Multiple Myeloma(13;0.14) 30 53 1.99505e-19 3.89548e-19 0.002445 1 0 PLXNA4 91584 broad.mit.edu 37 7 131831332 131831332 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:131831332C>T ENST00000359827.3 - 28 5954 c.4992G>A c.(4990-4992)aaG>aaA p.K1664K PLXNA4_ENST00000321063.4_Silent_p.K1664K Q9HCM2 PLXA4_HUMAN plexin A4 1664 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GGTCCCCCTCCTTCTGGTCTC 0.582000 128 167 0 0 0.003610 0 0 CHORDC1 26973 broad.mit.edu 37 11 89935706 89935706 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:89935706T>A ENST00000529726.1 - 4 4215 c.302A>T c.(301-303)aAg>aTg p.K101M CHORDC1_ENST00000457199.2_Missense_Mutation_p.K270M|CHORDC1_ENST00000529987.1_Missense_Mutation_p.K101M|CHORDC1_ENST00000320585.6_Missense_Mutation_p.K289M Q9UHD1 CHRD1_HUMAN cysteine and histidine-rich domain (CHORD) containing 1 289 Interaction with HSP90AA1 and HSP90AB1 (By similarity). chaperone-mediated protein folding|regulation of response to stress|response to stress Hsp90 protein binding|identical protein binding endometrium(2)|large_intestine(2)|liver(1)|lung(6) 11 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915) ATAACTTCGCTTTACATCAAT 0.383000 16 12 0 0 0.004007 0 0 PRDM9 56979 broad.mit.edu 37 5 23526943 23526943 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:23526943C>T ENST00000296682.3 + 11 1928 c.1746C>T c.(1744-1746)tgC>tgT p.C582C NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 582 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CCTATGTCTGCAGGGAGTGTG 0.597000 HNSCC(3;0.000094) 32 133 0 0 0.006230 0 0 DAB1 1600 broad.mit.edu 37 1 57480922 57480922 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:57480922G>T ENST00000371236.2 - 12 1341 c.1078C>A c.(1078-1080)Cag>Aag p.Q360K DAB1_ENST00000371231.1_Missense_Mutation_p.Q393K|DAB1_ENST00000439789.2_Missense_Mutation_p.Q274K|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Missense_Mutation_p.Q342K|DAB1_ENST00000371234.4_Missense_Mutation_p.Q360K|DAB1_ENST00000420954.2_Missense_Mutation_p.Q358K O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 393 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GGCGGAAACTGCCCGGCCACA 0.657000 21 46 1.55469e-16 2.89818e-16 0.003330 1 0 PLEKHG4B 153478 broad.mit.edu 37 5 163501 163501 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:163501G>A ENST00000283426.6 + 11 2296 c.2246G>A c.(2245-2247)aGt>aAt p.S749N NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 749 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) GACCATACTAGTGTCTTCAGC 0.567000 43 167 0 0 0.002852 0 0 NPC1 4864 broad.mit.edu 37 18 21136522 21136522 + Silent SNP C C A rs147795644 byFrequency TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:21136522C>A ENST00000269228.5 - 8 1565 c.1011G>T c.(1009-1011)cgG>cgT p.R337R NPC1_ENST00000412552.2_Silent_p.R87R|NPC1_ENST00000540608.1_5'UTR NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 337 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) GTGTGAACAGCCGCCTCAAGC 0.572000 14 15 3.27435e-08 4.95415e-08 0.002450 1 0 COL5A2 1290 broad.mit.edu 37 2 189899873 189899873 + Nonsense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:189899873A>T ENST00000374866.3 - 53 4396 c.4122T>A c.(4120-4122)taT>taA p.Y1374* NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 1374 Fibrillar collagen NC1. axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GGTGGTCTCCATAAGCGAACT 0.348000 16 337 0 0 0.007413 0 0 MROH5 389690 broad.mit.edu 37 8 142450389 142450389 + RNA SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:142450389G>T ENST00000430863.1 - 0 3239 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 CCTCAGGGCTGGGGTCGTGGA 0.627000 5 7 0.000602214 0.000796503 0.000602 1 0 ADAMTSL1 92949 broad.mit.edu 37 9 18777002 18777002 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:18777002G>T ENST00000380548.4 + 19 3114 c.2775G>T c.(2773-2775)acG>acT p.T925T NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 925 Ig-like C2-type 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding 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) CGCACGTCACGGTGGCCCCCT 0.672000 18 63 1.99824e-07 2.98677e-07 0.004990 1 0 FREM2 341640 broad.mit.edu 37 13 39263534 39263534 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr13:39263534G>T ENST00000280481.7 + 1 2269 c.2053G>T c.(2053-2055)Ggg>Tgg p.G685W NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 685 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TAATCAGTCCGGGCTACAGCG 0.557000 44 16 1.57945e-13 2.71391e-13 0.002852 1 0 CNR1 1268 broad.mit.edu 37 6 88854203 88854203 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:88854203C>A ENST00000537554.1 - 2 4353 c.791G>T c.(790-792)tGc>tTc p.C264F CNR1_ENST00000535130.1_Missense_Mutation_p.C264F|CNR1_ENST00000369501.2_Missense_Mutation_p.C264F|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000468898.1_Missense_Mutation_p.C231F|CNR1_ENST00000549890.1_Missense_Mutation_p.C264F|CNR1_ENST00000369499.2_Missense_Mutation_p.C264F|CNR1_ENST00000428600.2_Missense_Mutation_p.C264F|CNR1_ENST00000549716.1_Missense_Mutation_p.C203F NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 264 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) AATGTCTGAGCAAACAGATTG 0.512000 14 31 1.5842e-08 2.41915e-08 0.001855 1 0 SYDE2 84144 broad.mit.edu 37 1 85648430 85648430 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:85648430T>A ENST00000341460.5 - 3 1944 c.1895A>T c.(1894-1896)aAa>aTa p.K632I NM_032184.1 NP_115560.1 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 (C. elegans) 632 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 20 all cancers(265;0.0126)|Epithelial(280;0.0336) TTTGCTAGCTTTAGTTGTAAG 0.363000 11 38 0 0 0.008291 0 0 OR4C11 219429 broad.mit.edu 37 11 55371095 55371095 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:55371095C>A ENST00000302231.4 - 1 779 c.755G>T c.(754-756)tGt>tTt p.C252F NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 TATGAATATACATGGGCCAAA 0.438000 42 5 2.77807e-22 5.62445e-22 0.003214 1 0 MTNR1B 4544 broad.mit.edu 37 11 92715175 92715175 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:92715175C>A ENST00000257068.2 + 2 792 c.786C>A c.(784-786)atC>atA p.I262I NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 262 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) TCTTTGCCATCTGCTGGGCTC 0.557000 28 101 7.01153e-11 1.14313e-10 0.007291 1 0 ANK3 288 broad.mit.edu 37 10 61844412 61844412 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:61844412G>A ENST00000280772.1 - 32 4213 c.4022C>T c.(4021-4023)aCt>aTt p.T1341I ANK3_ENST00000373827.2_Missense_Mutation_p.T1335I|ANK3_ENST00000355288.2_Missense_Mutation_p.T475I|ANK3_ENST00000503366.1_Missense_Mutation_p.T1342I NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1341 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTGCTCTAAAGTTTTGTCCAC 0.373000 20 163 0 0 0.003954 0 0 SLC40A1 30061 broad.mit.edu 37 2 190428941 190428941 + Silent SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:190428941T>A ENST00000261024.2 - 7 1197 c.771A>T c.(769-771)ccA>ccT p.P257P NM_014585.5 NP_055400.1 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated transporter), member 1 257 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) CCAGGGGTTTTGGCTCAGTAT 0.418000 102 62 0 0 0.003610 0 0 CD1C 911 broad.mit.edu 37 1 158263089 158263089 + Missense_Mutation SNP A A C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:158263089A>C ENST00000368170.3 + 5 1256 c.977A>C c.(976-978)cAc>cCc p.H326P NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 326 antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) TTTAAGAAGCACTGGTGAGTT 0.398000 45 167 0 0 0.003610 0 0 SUSD5 26032 broad.mit.edu 37 3 33194435 33194435 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:33194435C>A ENST00000309558.3 - 5 2106 c.1689G>T c.(1687-1689)gtG>gtT p.V563V NM_015551.1 NP_056366.1 O60279 SUSD5_HUMAN sushi domain containing 5 563 cell adhesion integral to membrane hyaluronic acid binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 ATCCGTCCCCCACACACGACT 0.607000 8 14 1.12685e-05 1.58143e-05 0.004482 1 0 HRNR 388697 broad.mit.edu 37 1 152187476 152187476 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:152187476C>G ENST00000368801.2 - 3 6704 c.6629G>C c.(6628-6630)aGc>aCc p.S2210T FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2210 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGGCCACGGCTGGAAGAACG 0.597000 26 307 0 0 0.002096 0 0 ZNF677 342926 broad.mit.edu 37 19 53741621 53741621 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:53741621A>T ENST00000333952.4 - 5 524 c.359T>A c.(358-360)aTg>aAg p.M120K ZNF677_ENST00000598513.1_Missense_Mutation_p.M120K Q86XU0 ZN677_HUMAN zinc finger protein 677 120 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) GGTCAAAGGCATTCCTTTGTA 0.353000 24 49 0 0 0.002780 0 0 LRRTM4 80059 broad.mit.edu 37 2 77745606 77745606 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:77745606C>A ENST00000409088.3 - 3 1803 c.1389G>T c.(1387-1389)atG>atT p.M463I LRRTM4_ENST00000409911.1_Missense_Mutation_p.M464I|LRRTM4_ENST00000409093.1_Missense_Mutation_p.M463I|LRRTM4_ENST00000409282.1_Missense_Mutation_p.M464I|LRRTM4_ENST00000409884.1_Missense_Mutation_p.M463I NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 463 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) GCCGCCTCTTCATAAGAGAGT 0.473000 19 19 7.07596e-05 9.68289e-05 0.006122 1 0 SIM1 6492 broad.mit.edu 37 6 100838354 100838354 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:100838354T>A ENST00000369208.3 - 12 2966 c.2184A>T c.(2182-2184)agA>agT p.R728S SIM1_ENST00000262901.4_Missense_Mutation_p.R728S P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 728 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) AGGAATAGTTTCTAATGGTTT 0.448000 54 63 0 0 0.003610 0 0 SLC22A16 85413 broad.mit.edu 37 6 110746181 110746181 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:110746181C>T ENST00000368919.3 - 8 1695 c.1629G>A c.(1627-1629)gaG>gaA p.E543E SLC22A16_ENST00000330550.4_Silent_p.E509E NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 543 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) CATTCTCTGACTCCAGTTTTG 0.473000 35 68 0 0 0.003271 0 0 NPC1 4864 broad.mit.edu 37 18 21136523 21136523 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:21136523C>A ENST00000269228.5 - 8 1564 c.1010G>T c.(1009-1011)cGg>cTg p.R337L NPC1_ENST00000412552.2_Missense_Mutation_p.R87L|NPC1_ENST00000540608.1_5'UTR NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 337 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) TGTGAACAGCCGCCTCAAGCA 0.572000 14 15 3.27435e-08 4.95415e-08 0.002450 1 0 NOX3 50508 broad.mit.edu 37 6 155750019 155750019 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:155750019G>T ENST00000159060.2 - 9 1156 c.1054C>A c.(1054-1056)Cac>Aac p.H352N NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 352 FAD-binding FR-type. electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) GCCCGGATGTGCACGCTGAAA 0.637000 22 32 4.35082e-09 6.81237e-09 0.001523 1 0 CHRD 8646 broad.mit.edu 37 3 184106393 184106393 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:184106393C>A ENST00000204604.1 + 21 2819 c.2573C>A c.(2572-2574)cCc>cAc p.P858H EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.P858H|CHRD_ENST00000545352.1_Missense_Mutation_p.P400H|CHRD_ENST00000348986.3_Missense_Mutation_p.P818H NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 858 BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGGGCCCACCCCCAGCTGGGG 0.607000 62 18 3.05417e-18 5.85926e-18 0.003610 1 0 POU4F1 5457 broad.mit.edu 37 13 79177363 79177363 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr13:79177363C>A ENST00000377208.5 - 1 310 c.99G>T c.(97-99)cgG>cgT p.R33R RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606376.1_RNA NM_006237.3 NP_006228.3 Q01851 PO4F1_HUMAN POU class 4 homeobox 1 33 axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1) 16 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) GGCAGGCCCGCCGGATGGCCT 0.711000 8 12 1.06961e-07 1.60849e-07 0.003080 1 0 RNF44 22838 broad.mit.edu 37 5 175956382 175956382 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:175956382C>T ENST00000274811.4 - 10 1667 c.1143G>A c.(1141-1143)gtG>gtA p.V381V RNF44_ENST00000537487.1_Silent_p.V300V NM_014901.4 NP_055716.1 Q7L0R7 RNF44_HUMAN ring finger protein 44 381 zinc ion binding endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1) 8 all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGAAGCAGACCACACACCTGT 0.627000 25 10 0 0 0.003330 0 0 RP1L1 94137 broad.mit.edu 37 8 10469837 10469837 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:10469837C>A ENST00000382483.3 - 4 1994 c.1771G>T c.(1771-1773)Gca>Tca p.A591S NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 591 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TGCGTCTCTGCCTGCAGGTCG 0.642000 13 92 0.000151284 0.000204472 0.001855 1 0 SIDT1 54847 broad.mit.edu 37 3 113325904 113325904 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:113325904G>C ENST00000264852.4 + 15 2147 c.1421G>C c.(1420-1422)gGc>gCc p.G474A SIDT1_ENST00000393830.3_Missense_Mutation_p.G474A|SIDT1_ENST00000463226.1_Intron NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 474 integral to membrane p.G474A(1) breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 AATGTCACTGGCAACCAGGAC 0.512000 22 23 0 0 0.006320 0 0 ESCO1 114799 broad.mit.edu 37 18 19154125 19154125 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:19154125C>A ENST00000269214.5 - 4 1617 c.680G>T c.(679-681)tGt>tTt p.C227F NM_052911.2 NP_443143.2 Q5FWF5 ESCO1_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 1 227 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1) 35 CTTCTGAGGACACTTTTCAGA 0.403000 41 70 3.61848e-18 6.91468e-18 0.007835 1 0 LRFN1 57622 broad.mit.edu 37 19 39805183 39805183 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:39805183C>A ENST00000248668.4 - 1 793 c.794G>T c.(793-795)cGg>cTg p.R265L NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 265 LRRCT. cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GCGGGTCAGCCGCCGCAGCCA 0.692000 6 1 1.06961e-07 1.60849e-07 0.003080 1 0 SLC22A9 114571 broad.mit.edu 37 11 63141448 63141448 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:63141448G>A ENST00000310969.4 + 3 857 c.589G>A c.(589-591)Ggc>Agc p.G197S SLC22A9_ENST00000279178.3_Silent_p.L248L Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 0 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 TTATGACCCTGGCAGGCCTGG 0.473000 12 40 0 0 0.001368 0 0 C10orf90 118611 broad.mit.edu 37 10 128193239 128193239 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:128193239G>A ENST00000284694.7 - 3 650 c.530C>T c.(529-531)cCc>cTc p.P177L C10orf90_ENST00000544758.1_Missense_Mutation_p.P274L|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Missense_Mutation_p.P130L|C10orf90_ENST00000356858.3_Missense_Mutation_p.P130L|C10orf90_ENST00000454341.1_Missense_Mutation_p.P177L NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 177 p.P177L(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) CAGAGCCGGGGGCGCCTGGAA 0.667000 OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 64 0 0 0.003954 0 0 GOLGA6B 55889 broad.mit.edu 37 15 72953671 72953671 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr15:72953671C>A ENST00000421285.3 + 8 631 c.631C>A c.(631-633)Ctg>Atg p.L211M NM_018652.4 NP_061122.4 A6NDN3 GOG6B_HUMAN golgin A6 family, member B 211 NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 16 GCGGGCGCTGCTGAACGCACA 0.592000 15 65 8.00594e-06 1.12998e-05 0.007413 1 0 SERPINA5 5104 broad.mit.edu 37 14 95053813 95053813 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:95053813C>A ENST00000329597.7 + 3 324 c.114C>A c.(112-114)gcC>gcA p.A38A SERPINA5_ENST00000554866.1_Silent_p.A38A|SERPINA5_ENST00000554276.1_Silent_p.A38A|SERPINA5_ENST00000553780.1_Silent_p.A38A NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 38 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) ATGTAGGTGCCACGGTGGCCC 0.622000 52 14 6.81593e-30 1.48003e-29 0.003610 1 0 TUBA3C 7278 broad.mit.edu 37 13 19748237 19748237 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr13:19748237C>A ENST00000400113.3 - 5 1223 c.1119G>T c.(1117-1119)cgG>cgT p.R373R NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 373 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TGCACACAGCCCGCTGCACCT 0.602000 55 11 4.1673e-28 8.93123e-28 0.003610 1 0 TECTA 7007 broad.mit.edu 37 11 120989334 120989334 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:120989334C>T ENST00000392793.1 + 7 1381 c.1110C>T c.(1108-1110)cgC>cgT p.R370R TECTA_ENST00000264037.2_Silent_p.R370R O75443 TECTA_HUMAN tectorin alpha 370 VWFD 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) ATGAACACCGCAGAGGTTCAG 0.542000 32 82 0 0 0.002096 0 0 NXPE4 54827 broad.mit.edu 37 11 114453455 114453455 + Missense_Mutation SNP G G A rs111330181 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:114453455G>A ENST00000375478.3 - 3 565 c.385C>T c.(385-387)Cgc>Tgc p.R129C NXPE4_ENST00000424261.2_Intron NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 TGCTTCCTGCGTCCCAAGTGG 0.587000 15 35 0 0 0.004007 0 0 SALL1 6299 broad.mit.edu 37 16 51171110 51171110 + Silent SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:51171110G>C ENST00000440970.1 - 3 4028 c.3597C>G c.(3595-3597)ggC>ggG p.G1199G SALL1_ENST00000251020.4_Silent_p.G1296G|SALL1_ENST00000541611.1_Silent_p.G119G|SALL1_ENST00000566102.1_3'UTR NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1296 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TTTTCTCCAGGCCGGCCAGGG 0.587000 16 38 0 0 0.003163 0 0 UNC79 57578 broad.mit.edu 37 14 94053228 94053228 + Nonsense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:94053228C>A ENST00000553484.1 + 22 3160 c.3006C>A c.(3004-3006)taC>taA p.Y1002* UNC79_ENST00000555664.1_Nonsense_Mutation_p.Y1002*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.Y825*|UNC79_ENST00000393151.2_Nonsense_Mutation_p.Y1002* Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1002 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TTTTAGCCTACATTCAGGACC 0.343000 124 37 3.78446e-69 8.83936e-69 0.003610 1 0 ZNF37A 7587 broad.mit.edu 37 10 38403763 38403763 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:38403763G>A ENST00000351773.3 + 6 926 c.96G>A c.(94-96)ctG>ctA p.L32L ZNF37A_ENST00000361085.4_Silent_p.L32L|ZNF37A_ENST00000479469.1_3'UTR NM_001007094.2 NP_001007095.1 P17032 ZN37A_HUMAN zinc finger protein 37A 32 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 AGAGGACCCTGTACAGGGATG 0.493000 20 96 0 0 0.001523 0 0 AKT3 10000 broad.mit.edu 37 1 243858929 243858929 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:243858929C>G ENST00000366539.1 - 3 336 c.136G>C c.(136-138)Gat>Cat p.D46H AKT3_ENST00000366540.1_Missense_Mutation_p.D46H|AKT3_ENST00000263826.5_Missense_Mutation_p.D46H|AKT3_ENST00000336199.5_Missense_Mutation_p.D46H Q9Y243 AKT3_HUMAN v-akt murine thymoma viral oncogene homolog 3 46 PH. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) TAAGGTAAATCCACATCTTGA 0.318000 7 18 0 0 0.003080 0 0 PTPN1 5770 broad.mit.edu 37 20 49177900 49177900 + Splice_Site SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:49177900G>T ENST00000371621.3 + 2 238 c.63_splice c.e2-1 p.D22_splice PTPN1_ENST00000541713.1_Intron NM_001278618.1|NM_002827.2 NP_001265547.1|NP_002818.1 P18031 PTN1_HUMAN protein tyrosine phosphatase, non-receptor type 1 22 Tyrosine-protein phosphatase. blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol|endoplasmic reticulum membrane protein tyrosine phosphatase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2) 16 Lung NSC(126;0.163) Clodronate(DB00720)|Tiludronate(DB01133) TTTTTTGTAGGATATCCGACA 0.443000 25 45 4.47668e-21 8.98975e-21 0.003954 1 0 OR2M4 26245 broad.mit.edu 37 1 248402768 248402768 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:248402768G>T ENST00000306687.1 + 1 538 c.538G>T c.(538-540)Gat>Tat p.D180Y NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|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;0.0245) CTTTTTCTGTGATGTTGCTGC 0.428000 36 56 6.70999e-13 1.13908e-12 0.004289 1 0 SPATA16 83893 broad.mit.edu 37 3 172607409 172607409 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:172607409C>A ENST00000351008.3 - 11 1844 c.1661G>T c.(1660-1662)cGa>cTa p.R554L NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 554 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) TTTTTGCCTTCGAGCAGTTCT 0.378000 93 23 5.95195e-44 1.35809e-43 0.003610 1 0 CTNND2 1501 broad.mit.edu 37 5 11023036 11023036 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:11023036G>C ENST00000304623.8 - 17 3033 c.2844C>G c.(2842-2844)aaC>aaG p.N948K CTNND2_ENST00000511377.1_Missense_Mutation_p.N857K|CTNND2_ENST00000359640.2_Missense_Mutation_p.N890K|CTNND2_ENST00000458100.2_Missense_Mutation_p.N515K|CTNND2_ENST00000503622.1_Missense_Mutation_p.N611K|CTNND2_ENST00000495388.2_5'UTR NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 948 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TTGCAGTGTTGTTGCTGTTGT 0.498000 13 89 0 0 0.002450 0 0 FARP2 9855 broad.mit.edu 37 2 242343347 242343347 + Splice_Site SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:242343347G>C ENST00000264042.3 + 3 458 c.288_splice c.e3+1 p.W96_splice FARP2_ENST00000373287.4_Splice_Site_p.W96_splice|FARP2_ENST00000545004.1_Splice_Site_p.W96_splice NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 96 FERM. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) AGTCCTACTGGGTAAGTGCTT 0.468000 13 27 0 0 0.001855 0 0 ACVR1B 91 broad.mit.edu 37 12 52370313 52370313 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:52370313G>A ENST00000257963.4 + 3 611 c.534G>A c.(532-534)acG>acA p.T178T ACVR1B_ENST00000415850.2_Silent_p.T178T|ACVR1B_ENST00000426655.2_Silent_p.T178T|ACVR1B_ENST00000541224.1_Silent_p.T178T|ACVR1B_ENST00000542485.1_Silent_p.T126T NM_004302.4|NM_020328.3 NP_004293.1|NP_064733.3 P36896 ACV1B_HUMAN activin A receptor, type IB 178 GS. G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) AAGACAAGACGCTCCAGGATC 0.488000 56 82 0 0 0.003610 0 0 CTSG 1511 broad.mit.edu 37 14 25042852 25042852 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:25042852G>T ENST00000216336.2 - 5 795 c.759C>A c.(757-759)acC>acA p.T253T NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 253 immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) GTCACAGGGGGGTCTCCATCT 0.502000 153 84 5.63807e-81 1.32e-80 0.003610 1 0 QARS 5859 broad.mit.edu 37 3 49137018 49137018 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:49137018T>A ENST00000306125.6 - 16 1788 c.1451A>T c.(1450-1452)tAt>tTt p.Y484F QARS_ENST00000414533.1_Missense_Mutation_p.Y473F P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 484 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) GAGGCGGCCATACTCCCACTG 0.552000 35 5 0 0 0.002836 0 0 PRUNE2 158471 broad.mit.edu 37 9 79403395 79403395 + Missense_Mutation SNP A A C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:79403395A>C ENST00000376713.3 - 7 933 c.812T>G c.(811-813)tTt>tGt p.F271C PRUNE2_ENST00000428286.1_Intron|PRUNE2_ENST00000376718.3_Intron Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 0 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 cctggattgaaaggcgtctct 0.468000 3 6 0 0 0.004672 0 0 USH2A 7399 broad.mit.edu 37 1 216138697 216138697 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:216138697T>A ENST00000366943.2 - 37 7468 c.7082A>T c.(7081-7083)cAc>cTc p.H2361L USH2A_ENST00000307340.3_Missense_Mutation_p.H2361L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2361 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 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) AAGGACTGAGTGTGTTAAGAG 0.378000 HNSCC(13;0.011) 65 89 0 0 0.003610 0 0 FOXK1 221937 broad.mit.edu 37 7 4798711 4798711 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:4798711G>T ENST00000328914.4 + 6 1274 c.1274G>T c.(1273-1275)gGg>gTg p.G425V FOXK1_ENST00000446823.1_Missense_Mutation_p.G262V NM_001037165.1 NP_001032242.1 P85037 FOXK1_HUMAN forkhead box K1 425 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) ACACACCCCGGGCTGATGTCC 0.667000 24 58 1.1804e-14 2.10892e-14 0.003954 1 0 FAT3 120114 broad.mit.edu 37 11 92533544 92533544 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:92533544C>A ENST00000298047.6 + 9 7382 c.7365C>A c.(7363-7365)aaC>aaA p.N2455K FAT3_ENST00000409404.2_Missense_Mutation_p.N2455K|FAT3_ENST00000525166.1_Missense_Mutation_p.N2305K Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2455 Cadherin 22. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CATTGTCCAACCATCGGAAGC 0.488000 TCGA Ovarian(4;0.039) 34 33 8.4185e-14 1.45157e-13 0.002445 1 0 ME2 4200 broad.mit.edu 37 18 48458657 48458657 + Silent SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:48458657A>G ENST00000321341.5 + 13 1616 c.1344A>G c.(1342-1344)ccA>ccG p.P448P ME2_ENST00000382927.3_Silent_p.P448P|ME2_ENST00000585680.1_3'UTR NM_002396.4 NP_002387.1 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 448 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3) 23 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) GTGGCAGTCCATTTGGGCCAG 0.358000 25 42 0 0 0.007291 0 0 TECTA 7007 broad.mit.edu 37 11 121038900 121038900 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:121038900G>T ENST00000392793.1 + 19 5995 c.5724G>T c.(5722-5724)ttG>ttT p.L1908F TECTA_ENST00000264037.2_Missense_Mutation_p.L1908F O75443 TECTA_HUMAN tectorin alpha 1908 ZP. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) AGATCTCCTTGGATTCTGTTG 0.443000 44 111 4.75955e-12 7.9299e-12 0.003610 1 0 C11orf53 341032 broad.mit.edu 37 11 111156507 111156507 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:111156507C>A ENST00000280325.4 + 4 586 c.439C>A c.(439-441)Cac>Aac p.H147N NM_198498.1 NP_940900.1 Q8IXP5 CK053_HUMAN chromosome 11 open reading frame 53 147 endometrium(1)|large_intestine(2)|lung(3)|skin(2) 8 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) CATCGCCCAGCACAGGGGCTC 0.652000 16 61 0.00316338 0.00411239 0.003163 1 0 CLCA4 22802 broad.mit.edu 37 1 87041235 87041235 + Nonsense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:87041235C>A ENST00000370563.3 + 11 1946 c.1904C>A c.(1903-1905)tCa>tAa p.S635* RP4-651E10.4_ENST00000456587.1_RNA NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 635 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) TTCATTGAATCACAGAATGGA 0.378000 59 61 5.73376e-24 1.17044e-23 0.003610 1 0 MTMR9 66036 broad.mit.edu 37 8 11174306 11174306 + Missense_Mutation SNP G G T rs149021500 byFrequency TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:11174306G>T ENST00000221086.3 + 8 1711 c.1238G>T c.(1237-1239)tGt>tTt p.C413F AF131216.6_ENST00000498997.2_RNA|MTMR9_ENST00000526292.1_Missense_Mutation_p.C328F NM_015458.3 NP_056273.2 Q96QG7 MTMR9_HUMAN myotubularin related protein 9 413 Myotubularin phosphatase. cytoplasm phosphatase activity|protein binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2) 16 STAD - Stomach adenocarcinoma(15;0.215) COAD - Colon adenocarcinoma(149;0.0678) CAGTTTCCCTGTTCTTTTGAG 0.448000 22 54 1.55795e-14 2.77342e-14 0.001882 1 0 WASF3 10810 broad.mit.edu 37 13 27256877 27256877 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr13:27256877G>T ENST00000361042.4 + 9 1333 c.1108G>T c.(1108-1110)Gca>Tca p.A370S WASF3_ENST00000335327.5_Missense_Mutation_p.A373S Q9UPY6 WASF3_HUMAN WAS protein family, member 3 373 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CCCGTTCCCTGCATCAGCCAG 0.697000 75 15 3.83446e-41 8.68909e-41 0.003610 1 0 ZNF510 22869 broad.mit.edu 37 9 99521621 99521621 + Silent SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:99521621A>G ENST00000375231.1 - 6 2141 c.1491T>C c.(1489-1491)ttT>ttC p.F497F ZNF510_ENST00000223428.4_Silent_p.F497F Q9Y2H8 ZN510_HUMAN zinc finger protein 510 497 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 21 Acute lymphoblastic leukemia(62;0.0527) ACTTCTGAACAAAAGTTTTCC 0.408000 131 16 0 0 0.003610 0 0 EGF 1950 broad.mit.edu 37 4 110883141 110883141 + Splice_Site SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:110883141G>C ENST00000265171.5 + 8 1757 c.1312_splice c.e8+1 p.G438_splice EGF_ENST00000509793.1_Splice_Site_p.G396_splice|EGF_ENST00000503392.1_Splice_Site_p.G438_splice NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 438 EGF-like 4. angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) AACATGTAGCGGTGAGTTTAT 0.378000 48 17 0 0 0.003610 0 0 GJB4 127534 broad.mit.edu 37 1 35227444 35227444 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:35227444T>C ENST00000339480.1 + 2 959 c.589T>C c.(589-591)Tgc>Cgc p.C197R RP1-34M23.5_ENST00000542839.1_RNA NM_153212.2 NP_694944.1 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4, 30.3kDa 197 cell communication connexon complex|integral to membrane gap junction channel activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) AGCTGCCATCTGCATCCTGCT 0.607000 24 12 0 0 0.005443 0 0 POF1B 79983 broad.mit.edu 37 X 84634369 84634369 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:84634369G>T ENST00000262753.4 - 2 236 c.91C>A c.(91-93)Cac>Aac p.H31N POF1B_ENST00000373145.3_Missense_Mutation_p.H31N NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 31 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 TGGTAGCAGTGGTAATGCTGG 0.557000 3 3 6.4e-05 8.77197e-05 0.004672 1 0 ADGRG6 57211 broad.mit.edu 37 6 142691876 142691876 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:142691876G>A ENST00000230173.6 + 4 1491 c.1015G>A c.(1015-1017)Gac>Aac p.D339N GPR126_ENST00000296932.8_Missense_Mutation_p.D339N|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367608.2_Missense_Mutation_p.D339N|GPR126_ENST00000367609.3_Missense_Mutation_p.D339N NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 339 Pentaxin. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) CTGGCAAAATGACTTCTGGAA 0.373000 30 40 0 0 0.001786 0 0 ACTA1 58 broad.mit.edu 37 1 229568170 229568170 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:229568170G>T ENST00000366684.3 - 4 565 c.463C>A c.(463-465)Ctg>Atg p.L155M ACTA1_ENST00000366683.2_Intron NM_001100.3 NP_001091.1 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 155 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1) 28 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) CCGGAGTCCAGCACGATGCCT 0.736000 22 20 1.77063e-15 3.24561e-15 0.005443 1 0 SLC24A4 123041 broad.mit.edu 37 14 92959890 92959890 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:92959890C>A ENST00000532405.1 + 17 2013 c.1787C>A c.(1786-1788)gCc>gAc p.A596D SLC24A4_ENST00000393265.2_Missense_Mutation_p.A532D|SLC24A4_ENST00000298877.1_Missense_Mutation_p.A579D|SLC24A4_ENST00000351924.5_Missense_Mutation_p.A560D|SLC24A4_ENST00000531433.1_Missense_Mutation_p.A577D Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 596 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) GTTCTCTACGCCATCTTCTTG 0.547000 47 12 2.24722e-20 4.46731e-20 0.003610 1 0 ANKRD24 170961 broad.mit.edu 37 19 4224484 4224484 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:4224484C>A ENST00000600132.1 + 22 3699 c.3423C>A c.(3421-3423)ctC>ctA p.L1141L ANKRD24_ENST00000262970.5_Silent_p.L1231L|ANKRD24_ENST00000318934.4_Silent_p.L1141L NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 1141 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) TGCAGAGACTCCAGGCTCAGG 0.612000 16 24 6.94344e-10 1.11911e-09 0.006122 1 0 AGMO 392636 broad.mit.edu 37 7 15405794 15405794 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:15405794C>T ENST00000342526.3 - 11 1297 c.1128G>A c.(1126-1128)ttG>ttA p.L376L NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 376 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 CAATGGAAGTCAAGGTCAGGA 0.383000 16 10 0 0 0.003163 0 0 MAGEA11 4110 broad.mit.edu 37 X 148796170 148796170 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:148796170C>A ENST00000355220.5 + 3 228 c.126C>A c.(124-126)ttC>ttA p.F42L MAGEA11_ENST00000333104.4_Missense_Mutation_p.F13L NM_005366.4 NP_005357.2 P43364 MAGAB_HUMAN melanoma antigen family A, 11 42 cytoplasm|nucleus protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 9 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) AGGACGACTTCCAGTCAACAG 0.542000 8 4 4.84862e-15 8.72574e-15 0.000978 1 0 ABCA8 10351 broad.mit.edu 37 17 66881435 66881435 + Nonsense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:66881435C>A ENST00000269080.2 - 25 3468 c.3331G>T c.(3331-3333)Gga>Tga p.G1111* ABCA8_ENST00000430352.2_Nonsense_Mutation_p.G1151*|ABCA8_ENST00000586539.1_Nonsense_Mutation_p.G1151* NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1111 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) AACGCAAATCCAGCCACAGAG 0.358000 20 41 0.000132079 0.000179004 0.008871 1 0 SAGE1 55511 broad.mit.edu 37 X 134994064 134994064 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:134994064G>T ENST00000535938.1 + 18 2640 c.2473G>T c.(2473-2475)Gat>Tat p.D825Y SAGE1_ENST00000324447.3_Missense_Mutation_p.D825Y|SAGE1_ENST00000537770.1_Missense_Mutation_p.D449Y|SAGE1_ENST00000370709.3_Missense_Mutation_p.D825Y NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 825 p.D825N(1) breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) GAAAATTAATGATGATATAAA 0.378000 12 5 0.00010058 0.000136501 0.001368 1 0 S1PR1 1901 broad.mit.edu 37 1 101705298 101705298 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:101705298C>T ENST00000305352.6 + 2 1133 c.758C>T c.(757-759)gCg>gTg p.A253V NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 253 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 AAGTCGCTGGCGCTGCTCAAG 0.587000 55 42 0 0 0.003610 0 0 RPL28 6158 broad.mit.edu 37 19 55898082 55898082 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:55898082G>A ENST00000431533.2 + 3 268 c.226G>A c.(226-228)Gcc>Acc p.A76T RPL28_ENST00000458349.2_Intron|RPL28_ENST00000428193.2_Intron|RPL28_ENST00000560055.1_Intron|RPL28_ENST00000558752.1_Intron|RPL28_ENST00000560583.1_Intron|RPL28_ENST00000559463.1_Intron|RPL28_ENST00000558815.1_Intron|RPL28_ENST00000344063.2_Intron|RPL28_ENST00000558131.1_Intron NM_001136136.1 NP_001129608.1 P46779 RL28_HUMAN ribosomal protein L28 0 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(2)|lung(1) 6 Breast(117;0.191) Renal(1328;0.245) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0443) TCTGGTTTGGGCCAGAGAGCG 0.612000 20 30 0 0 0.007413 0 0 RRM2B 50484 broad.mit.edu 37 8 103244533 103244533 + Splice_Site SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:103244533C>T ENST00000251810.3 - 2 292 c.e2-1 RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000395912.2_Intron NM_001172478.1|NM_015713.4 NP_001165949.1|NP_056528.2 Q7LG56 RIR2B_HUMAN ribonucleotide reductase M2 B (TP53 inducible) deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion nucleoplasm ribonucleoside-diphosphate reductase activity|transition metal ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 9 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000728) AAGATGATCTCTTTGAAAAAT 0.378000 Modulation of nucleotide pools 55 48 0 0 0.003610 0 0 TRIM36 55521 broad.mit.edu 37 5 114480312 114480312 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:114480312C>A ENST00000513154.1 - 4 1044 c.718G>T c.(718-720)Gcc>Tcc p.A240S TRIM36_ENST00000514154.1_Missense_Mutation_p.A97S|TRIM36_ENST00000282369.3_Missense_Mutation_p.A252S Q9NQ86 TRI36_HUMAN tripartite motif containing 36 252 acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) GTTTTGTAGGCACTGCTCATA 0.368000 25 10 2.44723e-14 4.34087e-14 0.004656 1 0 CLCN7 1186 broad.mit.edu 37 16 1507713 1507713 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:1507713C>A ENST00000382745.4 - 8 1325 c.720G>T c.(718-720)ggG>ggT p.G240G CLCN7_ENST00000448525.1_Silent_p.G216G|CLCN7_ENST00000262318.8_Silent_p.G216G NM_001287.5 NP_001278.1 P51798 CLCN7_HUMAN chloride channel, voltage-sensitive 7 240 G -> R (in OPTB4). integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) CGGCCAGGCCCCCGACCACGG 0.627000 6 21 8.12818e-05 0.000110463 0.001984 1 0 TRIML2 205860 broad.mit.edu 37 4 189012681 189012681 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:189012681G>T ENST00000512729.1 - 7 1384 c.1010C>A c.(1009-1011)aCc>aAc p.T337N TRIML2_ENST00000326754.3_Missense_Mutation_p.T362N NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 337 B30.2/SPRY. ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) GGACATCTCGGTCACATTGTA 0.493000 47 18 3.05275e-18 5.85926e-18 0.003214 1 0 ZBTB16 7704 broad.mit.edu 37 11 113934619 113934619 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:113934619C>A ENST00000335953.4 + 2 977 c.597C>A c.(595-597)acC>acA p.T199T ZBTB16_ENST00000392996.2_Silent_p.T199T NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 199 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) TGAGTCCCACCAAGGCTGCAG 0.597000 15 40 3.27435e-08 4.95415e-08 0.002450 1 0 ESPL1 9700 broad.mit.edu 37 12 53663153 53663153 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:53663153G>A ENST00000257934.4 + 3 518 c.427G>A c.(427-429)Gtg>Atg p.V143M ESPL1_ENST00000552462.1_Missense_Mutation_p.V143M NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 143 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 CTATGAGGCCGTGGCTCGGGG 0.622000 33 60 0 0 0.002836 0 0 COL20A1 57642 broad.mit.edu 37 20 61959818 61959818 + Nonsense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:61959818G>A ENST00000422202.1 + 33 3856 c.3788G>A c.(3787-3789)tGg>tAg p.W1263* COL20A1_ENST00000358894.6_Nonsense_Mutation_p.W1250*|COL20A1_ENST00000326996.6_Nonsense_Mutation_p.W1282*|COL20A1_ENST00000435874.1_Nonsense_Mutation_p.W1263* Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 1250 cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) CCTGGAGAATGGGGGCGTGGT 0.701000 11 18 0 0 0.002450 0 0 TNFRSF14 8764 broad.mit.edu 37 1 2493144 2493144 + Missense_Mutation SNP G G T rs147648888 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:2493144G>T ENST00000355716.4 + 6 883 c.584G>T c.(583-585)gGg>gTg p.G195V TNFRSF14_ENST00000409119.1_3'UTR NM_003820.2 NP_003811.2 Q92956 TNR14_HUMAN tumor necrosis factor receptor superfamily, member 14 195 immune response|interspecies interaction between organisms|T cell costimulation tumor necrosis factor receptor activity kidney(1) 1 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199) GCCGGAGCTGGGACCAGCAGC 0.597000 """Mis, N, F""" follicular lymphoma 23 50 9.04412e-07 1.31599e-06 0.004656 1 0 ESPN 83715 broad.mit.edu 37 1 6511766 6511766 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:6511766G>A ENST00000377828.1 + 9 2187 c.2019G>A c.(2017-2019)ggG>ggA p.G673G ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000416731.1_Silent_p.G107G|ESPN_ENST00000461727.1_Silent_p.G107G NM_031475.2 NP_113663.2 B1AK53 ESPN_HUMAN espin 673 Pro-rich. sensory perception of sound brush border|cytoplasm|filamentous actin|stereocilium actin filament binding|SH3 domain binding NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392) Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419) AGAGCAAGGGGCTGACCACAG 0.657000 7 17 0 0 0.001984 0 0 GRID1 2894 broad.mit.edu 37 10 87373338 87373338 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:87373338G>T ENST00000327946.7 - 15 2512 c.2427C>A c.(2425-2427)ggC>ggA p.G809G GRID1_ENST00000536331.1_Silent_p.G380G NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 809 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) GGTCACAGCGGCCCATGTGCG 0.612000 Multiple Myeloma(13;0.14) 16 50 5.01169e-05 6.89631e-05 0.004990 1 0 ARHGEF1 9138 broad.mit.edu 37 19 42410694 42410694 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:42410694C>A ENST00000599846.1 + 28 2870 c.2745C>A c.(2743-2745)ggC>ggA p.G915G ARHGEF1_ENST00000354532.3_Silent_p.G859G|ARHGEF1_ENST00000337665.4_Silent_p.G874G|ARHGEF1_ENST00000378152.4_Intron|ARHGEF1_ENST00000347545.4_Silent_p.G826G Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 859 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) TCCCAGGGGGCGGCCCCCTGA 0.677000 7 18 8.12818e-05 0.000110463 0.001984 1 0 HGSNAT 138050 broad.mit.edu 37 8 43025733 43025733 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:43025733G>T ENST00000458501.2 + 7 723 c.723G>T c.(721-723)ctG>ctT p.L241L HGSNAT_ENST00000379644.4_Silent_p.L213L Q68CP4 HGNAT_HUMAN heparan-alpha-glucosaminide N-acetyltransferase 241 lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity cervix(1)|endometrium(2)|large_intestine(4)|lung(6) 13 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) TGAAGGAGCTGGGATCTCCCA 0.473000 12 14 2.27111e-07 3.3793e-07 0.001368 1 0 FAM160A2 84067 broad.mit.edu 37 11 6240220 6240220 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:6240220G>A ENST00000265978.4 - 7 1610 c.1252C>T c.(1252-1254)Ctg>Ttg p.L418L FAM160A2_ENST00000524416.1_Silent_p.L418L|FAM160A2_ENST00000449352.2_Silent_p.L418L NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 418 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGCTGCAGCAGGACATCCTCA 0.577000 18 13 0 0 0.006122 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702943 27702943 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:27702943C>A ENST00000438700.3 - 1 354 c.237G>T c.(235-237)tcG>tcT p.S79S NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 79 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 CGTCCAGCATCGACGGCCGGG 0.716000 9 42 2.17888e-05 3.03202e-05 0.006214 1 0 MYH1 4619 broad.mit.edu 37 17 10404699 10404699 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:10404699C>T ENST00000226207.5 - 27 3560 c.3466G>A c.(3466-3468)Gaa>Aaa p.E1156K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1156 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CCACCGGCTTCTTCCAGCCTC 0.622000 83 21 0 0 0.003610 0 0 RXRG 6258 broad.mit.edu 37 1 165376069 165376069 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:165376069C>G ENST00000359842.5 - 9 1526 c.1224G>C c.(1222-1224)aaG>aaC p.K408N NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma 408 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) GTTCCGGATACTTCTGCTTGG 0.532000 39 39 0 0 0.006999 0 0 RASIP1 54922 broad.mit.edu 37 19 49238578 49238578 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:49238578C>A ENST00000222145.4 - 4 1258 c.1054G>T c.(1054-1056)Ggg>Tgg p.G352W RASIP1_ENST00000594232.1_5'UTR NM_017805.2 NP_060275.2 Q5U651 RAIN_HUMAN Ras interacting protein 1 352 signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) TCGGCTGCCCCTGGGGCCATG 0.647000 13 12 5.50884e-06 7.79761e-06 0.001368 1 0 WDR33 55339 broad.mit.edu 37 2 128522332 128522332 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:128522332C>A ENST00000409658.3 - 6 878 c.696G>T c.(694-696)ctG>ctT p.L232L WDR33_ENST00000393006.1_Intron|WDR33_ENST00000322313.4_Intron NM_001006622.2 NP_001006623.1 Q9C0J8 WDR33_HUMAN WD repeat domain 33 0 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) TCTCTGCACCCAGAATACACT 0.398000 24 62 1.22574e-08 1.88048e-08 0.002299 1 0 OR1C1 26188 broad.mit.edu 37 1 247920989 247920989 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:247920989G>T ENST00000408896.2 - 1 993 c.720C>A c.(718-720)acC>acA p.T240T NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GGCAGCTGCAGGTGGAAACAG 0.527000 28 9 4.22769e-11 6.93848e-11 0.006320 1 0 OR14C36 127066 broad.mit.edu 37 1 248512579 248512579 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:248512579G>T ENST00000317861.1 + 1 503 c.503G>T c.(502-504)cGg>cTg p.R168L NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 CCCTTCTGTCGGTCCAACGTT 0.502000 22 31 2.21704e-12 3.7189e-12 0.002780 1 0 OR6T1 219874 broad.mit.edu 37 11 123813682 123813682 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:123813682G>A ENST00000321252.2 - 1 898 c.864C>T c.(862-864)ttC>ttT p.F288F NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F288F(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GAGTGAAGATGAATGGGTTCA 0.517000 34 119 0 0 0.004878 0 0 UNC5D 137970 broad.mit.edu 37 8 35608159 35608159 + Silent SNP G G C rs145027081 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:35608159G>C ENST00000287272.2 + 12 1808 c.1788G>C c.(1786-1788)gcG>gcC p.A596A UNC5D_ENST00000449677.1_Silent_p.A241A|UNC5D_ENST00000404895.2_Silent_p.A665A|UNC5D_ENST00000453357.2_Silent_p.A660A|UNC5D_ENST00000416672.1_Silent_p.A670A|UNC5D_ENST00000420357.1_Silent_p.A598A Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 665 ZU5. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) ACCCCTTTGCGTGTCATGTGC 0.488000 31 67 0 0 0.002445 0 0 GPATCH1 55094 broad.mit.edu 37 19 33588736 33588736 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:33588736G>A ENST00000170564.2 + 8 1242 c.928G>A c.(928-930)Gtt>Att p.V310I NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 310 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) GTATGACACTGTTCTGAAGGA 0.453000 57 142 0 0 0.003610 0 0 ATG9A 79065 broad.mit.edu 37 2 220087103 220087103 + Nonsense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:220087103G>A ENST00000409618.1 - 12 2357 c.1918C>T c.(1918-1920)Cag>Tag p.Q640* ATG9A_ENST00000361242.4_Nonsense_Mutation_p.Q640*|ATG9A_ENST00000409422.1_Nonsense_Mutation_p.Q579*|ATG9A_ENST00000396761.2_Nonsense_Mutation_p.Q640* Q7Z3C6 ATG9A_HUMAN autophagy related 9A 640 autophagic vacuole assembly|protein transport autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1) 13 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTGGAGCCCTGCAGGTCTCTG 0.642000 37 24 0 0 0.005524 0 0 CDH7 1005 broad.mit.edu 37 18 63547670 63547670 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:63547670G>T ENST00000397968.2 + 12 2324 c.1898G>T c.(1897-1899)cGg>cTg p.R633L CDH7_ENST00000323011.3_Missense_Mutation_p.R633L NM_004361.2 NP_004352.2 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 633 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) ATGAGAAGACGGAAAAAAGAG 0.438000 9 28 3.09899e-07 4.59729e-07 0.004482 1 0 HECW2 57520 broad.mit.edu 37 2 197184519 197184519 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:197184519C>A ENST00000260983.2 - 9 1277 c.1095G>T c.(1093-1095)caG>caT p.Q365H HECW2_ENST00000409111.1_Missense_Mutation_p.Q9H NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 365 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity p.Q365H(1) biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 TAGAGCACACCTGGCTGTCGT 0.517000 14 43 0.000151284 0.000204472 0.001855 1 0 ZNF521 25925 broad.mit.edu 37 18 22804644 22804644 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:22804644G>T ENST00000361524.3 - 4 3386 c.3238C>A c.(3238-3240)Ctg>Atg p.L1080M ZNF521_ENST00000538137.2_Missense_Mutation_p.L1080M|ZNF521_ENST00000584787.1_Missense_Mutation_p.L860M NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 1080 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AGTTTCACCAGATCTTGCTTG 0.542000 T PAX5 ALL 18 39 9.16793e-09 1.41089e-08 0.004990 1 0 ENPP6 133121 broad.mit.edu 37 4 185012394 185012394 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:185012394G>A ENST00000296741.2 - 8 1400 c.1259C>T c.(1258-1260)aCt>aTt p.T420I NM_153343.3 NP_699174.1 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 6 420 lipid catabolic process extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) AGGCGGGGCAGTGCTGGCGCG 0.557000 5 22 0 0 0.001168 0 0 CERKL 375298 broad.mit.edu 37 2 182423388 182423388 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:182423388G>T ENST00000410087.3 - 5 825 c.725C>A c.(724-726)gCt>gAt p.A242D CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.A224D|CERKL_ENST00000374970.2_Intron|CERKL_ENST00000339098.5_Missense_Mutation_p.A268D|CERKL_ENST00000374969.2_Intron NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 268 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) CAGAAGCAAAGCATGGGCTAC 0.453000 22 99 1.50039e-11 2.4914e-11 0.001882 1 0 RFC4 5984 broad.mit.edu 37 3 186522453 186522453 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:186522453G>C ENST00000392481.2 - 2 331 c.50C>G c.(49-51)aCc>aGc p.T17S RFC4_ENST00000296273.2_Missense_Mutation_p.T17S|RFC4_ENST00000433496.1_Missense_Mutation_p.T17S NM_181573.2 NP_853551.1 P35249 RFC4_HUMAN replication factor C (activator 1) 4, 37kDa 17 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) TCGATCCTTGGTCAGCGGGGG 0.458000 79 25 0 0 0.003610 0 0 MIER1 57708 broad.mit.edu 37 1 67442278 67442278 + Splice_Site SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:67442278G>T ENST00000357692.2 + 13 1251 c.993_splice c.e13-1 p.V332_splice MIER1_ENST00000371016.1_Splice_Site_p.V332_splice|MIER1_ENST00000371014.1_Splice_Site_p.V368_splice|MIER1_ENST00000355356.3_Splice_Site_p.V315_splice|MIER1_ENST00000355977.6_Splice_Site_p.V252_splice|MIER1_ENST00000401041.1_Splice_Site_p.V368_splice|MIER1_ENST00000401042.3_Splice_Site_p.V315_splice|MIER1_ENST00000371018.3_Splice_Site_p.V332_splice NM_001146110.1 NP_001139582.1 Q8N108 MIER1_HUMAN mesoderm induction early response 1, transcriptional regulator 339 SANT. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3) 15 TTTCTTACAGGTCCGAACAAG 0.333000 28 34 3.65163e-15 6.61983e-15 0.006320 1 0 METTL9 51108 broad.mit.edu 37 16 21623972 21623972 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:21623972G>A ENST00000358154.3 + 2 430 c.172G>A c.(172-174)Gtg>Atg p.V58M METTL9_ENST00000396014.4_Missense_Mutation_p.V58M NM_001077180.1|NM_016025.3 NP_001070648.1|NP_057109.3 Q9H1A3 METL9_HUMAN methyltransferase like 9 58 endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1) 7 GBM - Glioblastoma multiforme(48;0.0759) ttAGTGGTATGTGTGCAACAG 0.333000 10 22 0 0 0.006214 0 0 DIDO1 11083 broad.mit.edu 37 20 61542745 61542745 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:61542745C>A ENST00000266070.4 - 3 545 c.220G>T c.(220-222)Gtg>Ttg p.V74L DIDO1_ENST00000370371.4_Missense_Mutation_p.V74L|DIDO1_ENST00000370366.1_Missense_Mutation_p.V74L|DIDO1_ENST00000354665.4_Missense_Mutation_p.V74L|DIDO1_ENST00000395343.1_Missense_Mutation_p.V74L|DIDO1_ENST00000266071.5_Missense_Mutation_p.V74L|DIDO1_ENST00000395340.1_Missense_Mutation_p.V74L|DIDO1_ENST00000395335.2_Missense_Mutation_p.V74L|DIDO1_ENST00000370368.1_Missense_Mutation_p.V74L NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 74 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) AACTGCTCCACGCGCTCAGTG 0.711000 18 20 1.33834e-09 2.12585e-09 0.007413 1 0 NLRP13 126204 broad.mit.edu 37 19 56424536 56424536 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:56424536T>A ENST00000588751.1 - 5 671 c.647A>T c.(646-648)cAg>cTg p.Q216L NLRP13_ENST00000342929.3_Missense_Mutation_p.Q216L Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 216 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CAGTAGGCGCTGCAGTTCCTC 0.512000 37 60 0 0 0.003755 0 0 IFT172 26160 broad.mit.edu 37 2 27676886 27676886 + Missense_Mutation SNP C C T rs141440865 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:27676886C>T ENST00000260570.3 - 33 3777 c.3674G>A c.(3673-3675)cGg>cAg p.R1225Q NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 1225 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) TCTCTGGGCCCGGAGCAGCAG 0.622000 50 81 0 0 0.003610 0 0 TMCO2 127391 broad.mit.edu 37 1 40713763 40713763 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:40713763C>T ENST00000372766.3 + 1 191 c.98C>T c.(97-99)aCt>aTt p.T33I TMCO2_ENST00000468258.1_Intron NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 33 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) TTGGGAGAGACTAGTGCACCT 0.398000 39 117 0 0 0.005524 0 0 FBXO41 150726 broad.mit.edu 37 2 73493629 73493644 + Frame_Shift_Del DEL CACCTCCACGGCCCAG CACCTCCACGGCCCAG - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:73493629_73493644delCACCTCCACGGCCCAG ENST00000521871.1 - 3 1487_1502 c.1072_1087delCTGGGCCGTGGAGGTG c.(1072-1089)ggfs p.LGRGGG358fs FBXO41_ENST00000520530.2_Frame_Shift_Del_p.LGRGGG358fs|FBXO41_ENST00000295133.5_Frame_Shift_Del_p.LGRGGG419fs Q8TF61 FBX41_HUMAN F-box protein 41 358 intracellular protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1) 13 CCACCGCCCCCACCTCCACGGCCCAGGCTGGCGCTG 0.685 6 4 --- --- --- --- ARPP21 10777 broad.mit.edu 37 3 35729270 35729270 + Frame_Shift_Del DEL C C - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:35729270delC ENST00000187397.4 + 6 757 c.301delC c.(301-303)aafs p.Q101fs ARPP21_ENST00000444190.1_Frame_Shift_Del_p.Q101fs|ARPP21_ENST00000337271.5_Frame_Shift_Del_p.Q101fs|ARPP21_ENST00000458225.1_Frame_Shift_Del_p.Q101fs|ARPP21_ENST00000417925.1_Frame_Shift_Del_p.Q101fs NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 101 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 TTCCAGCCTGCAAGAGGAGGA 0.358 31 63 --- --- --- --- UBA6-AS1 550112 broad.mit.edu 37 4 68904673 68904673 + RNA DEL G G - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:68904673delG ENST00000500538.2 + 0 1905 TCCTACTCTTGAAGGTGATGA 0.458 17 6 --- --- --- --- CCNB3P1 100131678 broad.mit.edu 37 5 26740826 26740826 + RNA DEL C C - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:26740826delC ENST00000506032.1 - 0 125 GACATAGTGGCAGTGCTGTAC 0.453 13 9 --- --- --- --- PCDHGA10 56106 broad.mit.edu 37 5 140794944 140794944 + Frame_Shift_Del DEL C C - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:140794944delC ENST00000398610.2 + 1 2202 c.2202delC c.(2200-2202)ggfs p.G735fs PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCAGGAGGCGGCTTGACAG 0.662 67 14 --- --- --- --- LRFN2 57497 broad.mit.edu 37 6 40399674 40399674 + Frame_Shift_Del DEL C C - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:40399674delC ENST00000338305.6 - 2 1721 c.1179delG c.(1177-1179)aafs p.K393fs NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 393 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) AGAGGCGGGACTTGGGGGGTG 0.672 11 37 --- --- --- --- HOXA11 3207 broad.mit.edu 37 7 27222462 27222462 + Frame_Shift_Del DEL T T - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:27222462delT ENST00000006015.3 - 2 966 c.895delA c.(895-897)ttfs p.I299fs NM_005523.5 NP_005514.1 P31270 HXA11_HUMAN homeobox A11 299 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 16 TCTCTGTTAATTTTTTTTTCC 0.448 T NUP98 CML 7 102 --- --- --- --- COL1A2 1278 broad.mit.edu 37 7 94044553 94044553 + Frame_Shift_Del DEL T T - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:94044553delT ENST00000297268.6 + 30 2206 c.1735delT c.(1735-1737)ttfs p.F579fs NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 579 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CCATGGTGAGTTTGGTCTCCC 0.348 HNSCC(75;0.22) 48 230 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100391834 100391834 + RNA DEL G G - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:100391834delG ENST00000542585.1 + 0 8289 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GCTGCAGAGCGGGGGAGGTCT 0.632 55 27 --- --- --- --- MTUS1 57509 broad.mit.edu 37 8 17513510 17513510 + Frame_Shift_Del DEL T T - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:17513510delT ENST00000381869.3 - 8 3281 c.2808delA c.(2806-2808)gafs p.E936fs MTUS1_ENST00000519263.1_Frame_Shift_Del_p.E936fs|MTUS1_ENST00000297488.6_Frame_Shift_Del_p.E156fs|MTUS1_ENST00000544260.1_Frame_Shift_Del_p.E135fs|MTUS1_ENST00000381861.3_Frame_Shift_Del_p.E237fs|MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000400046.1_Frame_Shift_Del_p.E62fs|MTUS1_ENST00000262102.6_Frame_Shift_Del_p.E990fs NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 990 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) GGACGAATGCTTCATACACTG 0.433 35 42 --- --- --- --- PRKACG 5568 broad.mit.edu 37 9 71628468 71628468 + Frame_Shift_Del DEL G G - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:71628468delG ENST00000377276.2 - 1 571 c.541delC c.(541-543)tgfs p.L181fs NM_002732.3 NP_002723.2 P22612 KAPCG_HUMAN protein kinase, cAMP-dependent, catalytic, gamma 181 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 GTCACCTGCAGGTAGCCCTGC 0.637 19 2 --- --- --- --- STRBP 55342 broad.mit.edu 37 9 125935997 125935997 + Frame_Shift_Del DEL G G - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:125935997delG ENST00000447404.2 - 4 653 c.349delC c.(349-351)tgfs p.L118fs STRBP_ENST00000360998.3_Frame_Shift_Del_p.L104fs|STRBP_ENST00000348403.5_Frame_Shift_Del_p.L118fs Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 118 DZF. multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2) 26 GTATTTAACAGGGTCTCTGTG 0.398 60 111 --- --- --- --- ANKRD30A 91074 broad.mit.edu 37 10 37430891 37430891 + Frame_Shift_Del DEL G G - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:37430891delG ENST00000374660.1 + 7 997 c.898delG c.(898-900)aafs p.E300fs ANKRD30A_ENST00000361713.1_Frame_Shift_Del_p.E300fs|ANKRD30A_ENST00000602533.1_Frame_Shift_Del_p.E300fs Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 356 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GTCAGCAGAAGAAACACCTAG 0.433 18 81 --- --- --- --- AKAP3 10566 broad.mit.edu 37 12 4736719 4736719 + Frame_Shift_Del DEL C C - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:4736719delC ENST00000545990.2 - 5 1873 c.1349delG c.(1348-1350)gtfs p.G450fs AKAP3_ENST00000228850.1_Frame_Shift_Del_p.G450fs NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 450 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 AATGTGCTCACCCAGAGTTTT 0.408 67 24 --- --- --- --- CDKN1B 1027 broad.mit.edu 37 12 12871130 12871131 + Frame_Shift_Ins INS - - G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:12871130_12871131insG ENST00000228872.4 + 1 1073_1074 c.357_358insG c.(355-360)atgggcfs p.MG119fs CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.MG119fs NM_004064.3 NP_004055.1 P46527 CDN1B_HUMAN cyclin-dependent kinase inhibitor 1B (p27, Kip1) 119 autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle cytosol|endosome|nucleoplasm cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5) 13 Prostate(47;0.0322)|all_epithelial(100;0.159) BRCA - Breast invasive adenocarcinoma(232;0.0336) CGCCTTTAATTGGGGCTCCGGC 0.629 28 43 --- --- --- --- SECISBP2L 9728 broad.mit.edu 37 15 49284568 49284598 + Frame_Shift_Del DEL TCCAGCACCTCAGGCGCCTCTGCTTCCTCTT TCCAGCACCTCAGGCGCCTCTGCTTCCTCTT - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr15:49284568_49284598delTCCAGCACCTCAGGCGCCTCTGCTTCCTCTT ENST00000559471.1 - 18 3412_3442 c.3149_3179delAAGAGGAAGCAGAGGCGCCTGAGGTGCTGGA c.(3148-3180)ggfs p.EEEAEAPEVLE1050fs SECISBP2L_ENST00000261847.3_Frame_Shift_Del_p.EEEAEAPEVLE1005fs NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 1050 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 CATCCCTGGCTCCAGCACCTCAGGCGCCTCTGCTTCCTCTTCTCCACTTTG 0.532 9 21 --- --- --- --- PRKCB 5579 broad.mit.edu 37 16 24231342 24231343 + Frame_Shift_Ins INS - - C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:24231342_24231343insC ENST00000321728.7 + 17 2099_2100 c.1924_1925insC c.(1924-1926)cccfs p.P642fs PRKCB_ENST00000303531.7_3'UTR NM_212535.2 NP_997700.1 P05771 KPCB_HUMAN protein kinase C, beta 642 AGC-kinase C-terminal. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) TGTGGAACTGACCCCCACTGAT 0.421 14 36 --- --- --- --- LOC100130700 100130700 broad.mit.edu 37 16 34739662 34739663 + RNA INS - - T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:34739662_34739663insT ENST00000562591.1 - 0 259_260 NR_034019.1 CTGTAGTAATATTGATGCTCCA 0.401 5 4 --- --- --- --- SALL1 6299 broad.mit.edu 37 16 51175948 51175948 + Frame_Shift_Del DEL T T - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:51175948delT ENST00000251020.4 - 2 218 c.185delA c.(184-186)agfs p.K63fs SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_5'UTR NM_002968.2 NP_002959.2 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 63 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ACAGTTCTTCTTGTGGAGCAG 0.483 24 75 --- --- --- --- NCOR1 9611 broad.mit.edu 37 17 16029437 16029439 + In_Frame_Del DEL TTC TTC - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:16029437_16029439delTTC ENST00000268712.3 - 15 1848_1850 c.1591_1593delGAA c.(1591-1593)del p.E531del NCOR1_ENST00000395851.1_In_Frame_Del_p.E531del|NCOR1_ENST00000395848.1_In_Frame_Del_p.E422del NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 531 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) catctttcttttcttcttctttt 0.271 4 5 --- --- --- --- MED13 9969 broad.mit.edu 37 17 60072546 60072547 + Frame_Shift_Ins INS - - TA TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:60072546_60072547insTA ENST00000397786.2 - 10 2223_2224 c.2147_2148insTA c.(2146-2148)caafs p.Q716fs NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 716 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TCTCACTATTTTGTCTATCTTT 0.361 16 66 --- --- --- --- STK11 6794 broad.mit.edu 37 19 1221314 1221314 + Frame_Shift_Del DEL C C - rs121913321 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:1221314delC ENST00000326873.7 + 6 2010 c.837delC c.(835-837)ggfs p.G279fs NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 279 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.P281fs*6(2)|p.?(2)|p.Y246fs*3(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GCGACTGTGGCCCCCCGCTCT 0.607 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 7 0 --- --- --- --- PLIN4 729359 broad.mit.edu 37 19 4513123 4513123 + Frame_Shift_Del DEL T T - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:4513123delT ENST00000301286.3 - 3 806 c.807delA c.(805-807)aafs p.K269fs NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 269 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 GGATGGTTCCTTTGGCCACAT 0.547 9 43 --- --- --- --- ZNF880 400713 broad.mit.edu 37 19 52877717 52877717 + Frame_Shift_Del DEL T T - rs77187934 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:52877717delT ENST00000597976.1 + 3 325 c.305delT c.(304-306)atfs p.I102fs ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000424032.2_Intron Q6PDB4 ZN880_HUMAN zinc finger protein 880 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 GGCCCCATAAttttttttttt 0.473 2 4 --- --- --- --- DNMT3B 1789 broad.mit.edu 37 20 31383432 31383457 + Splice_Site DEL CATGCCTTCTTCTTTTCTCAATAGAA CATGCCTTCTTCTTTTCTCAATAGAA - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:31383432_31383457delCATGCCTTCTTCTTTTCTCAATAGAA ENST00000328111.2 + 12 1573_1575 c.1252_splice c.e12-1 p.418_splice DNMT3B_ENST00000353855.2_Splice_Site_p.398_splice|DNMT3B_ENST00000456297.2_Splice_Site_p.322_splice|DNMT3B_ENST00000375623.4_Splice_Site_p.E307_splice|DNMT3B_ENST00000344505.4_Splice_Site_p.398_splice|DNMT3B_ENST00000348286.2_Splice_Site_p.398_splice|DNMT3B_ENST00000443239.3_Splice_Site_p.356_splice|DNMT3B_ENST00000201963.3_Splice_Site_p.410_splice NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 418 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GACCTCATCTCATGCCTTCTTCTTTTCTCAATAGAACAAATGGCTT 0.535 11 71 --- --- --- ---