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 CD163 9332 broad.mit.edu 37 12 7636240 7636240 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:7636240G>A ENST00000359156.4 - 12 3013 c.2811C>T c.(2809-2811)tcC>tcT p.S937S CD163_ENST00000396620.3_Silent_p.S970S|CD163_ENST00000432237.2_Silent_p.S937S|CD163_ENST00000541972.1_Silent_p.S925S|CD163_ENST00000539632.1_5'UTR NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 937 SRCR 9. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GTCCAGAACAGGAAGTGGGTC 0.468000 14 18 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716776 13716776 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:13716776G>A ENST00000279593.3 - 13 3605 c.3396C>T c.(3394-3396)ttC>ttT p.F1132F NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1132 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGTCCAGGTAGAAGTCCCGTA 0.592000 31 36 0 0 1 0 0 TRPC3 7222 broad.mit.edu 37 4 122853681 122853681 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:122853681C>T ENST00000264811.5 - 1 931 c.513G>A c.(511-513)caG>caA p.Q171Q TRPC3_ENST00000513531.1_Silent_p.Q171Q|TRPC3_ENST00000379645.3_Silent_p.Q244Q NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 159 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CTTCGTATTTCTGGCAGTGCG 0.612000 30 31 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40939505 40939505 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:40939505G>A ENST00000246914.5 + 7 1707 c.1686G>A c.(1684-1686)gaG>gaA p.E562E WNK4_ENST00000587705.1_3'UTR NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 562 E -> K (in PHAII). intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) AGGAGCCAGAGGCAGACCAGC 0.612000 70 79 0 0 1 0 0 HOXB5 3215 broad.mit.edu 37 17 46669719 46669719 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:46669719C>T ENST00000239151.5 - 2 940 c.662G>A c.(661-663)cGg>cAg p.R221Q HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000467155.2_RNA NM_002147.3 NP_002138.1 P09067 HXB5_HUMAN homeobox B5 221 nucleus sequence-specific DNA binding large_intestine(1)|lung(2) 3 GCGCCGTCGCCGGGTCAGGTA 0.607000 49 75 0 0 1 0 0 PELP1 27043 broad.mit.edu 37 17 4576330 4576330 + Splice_Site SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:4576330G>A ENST00000269230.7 - 18 1917 c.1692_splice c.e18+1 p.P564_splice PELP1_ENST00000436683.2_Silent_p.P505P|PELP1_ENST00000301396.4_Silent_p.P796P|PELP1_ENST00000574876.1_Silent_p.P652P|PELP1_ENST00000572293.1_Silent_p.P702P Q8IZL8 PELP1_HUMAN proline, glutamate and leucine rich protein 1 601 transcription, DNA-dependent cytoplasm|MLL1 complex protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 CCTCAGGAGGGGGAACTGGAG 0.687000 25 31 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69881796 69881796 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr10:69881796G>A ENST00000358913.5 + 2 1089 c.601G>A c.(601-603)Gat>Aat p.D201N MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.D201N|MYPN_ENST00000373675.3_Missense_Mutation_p.D201N NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 201 Interaction with CARP. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 CAGTTTCTCAGATCTGTCAGA 0.463000 17 5 0 0 1 0 0 EHMT2 10919 broad.mit.edu 37 6 31855876 31855876 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:31855876G>A ENST00000395728.3 - 12 1857 c.1858C>T c.(1858-1860)Cct>Tct p.P620S EHMT2_ENST00000375528.4_Missense_Mutation_p.P586S|EHMT2_ENST00000375530.4_Missense_Mutation_p.P529S|EHMT2_ENST00000375537.4_Missense_Mutation_p.P563S|EHMT2_ENST00000480912.1_5'UTR Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 563 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 GGGGGTGCAGGAGCTGCAGTG 0.652000 6 18 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56165323 56165323 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr18:56165323C>T ENST00000361673.3 - 12 6467 c.6254G>A c.(6253-6255)gGa>gAa p.G2085E NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 2085 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TAGCTTCATTCCTACACCTAC 0.493000 35 43 0 0 1 0 0 OBSL1 23363 broad.mit.edu 37 2 220423044 220423044 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:220423044C>T ENST00000404537.1 - 10 3420 c.3364G>A c.(3364-3366)Gag>Aag p.E1122K OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000373876.1_Missense_Mutation_p.E1122K|OBSL1_ENST00000603926.1_Missense_Mutation_p.E1122K|OBSL1_ENST00000265317.5_Missense_Mutation_p.E113K NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 1122 Ig-like 9. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) TCTGATGCCTCCACTTCCAGC 0.682000 6 17 0 0 1 0 0 SYT7 9066 broad.mit.edu 37 11 61290703 61290703 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:61290703C>T ENST00000263846.4 - 8 1278 c.951G>A c.(949-951)gtG>gtA p.V317V SYT7_ENST00000542836.1_Silent_p.V361V|SYT7_ENST00000542670.1_Silent_p.V525V|SYT7_ENST00000540677.1_Silent_p.V392V|SYT7_ENST00000539008.1_Silent_p.V600V|SYT7_ENST00000535826.1_Silent_p.V436V NM_004200.3 NP_004191.2 O43581 SYT7_HUMAN synaptotagmin VII 317 C2 2. cell junction|integral to membrane|synaptic vesicle membrane transporter activity kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TCTTCTTCTCCACCCGCTTGT 0.562000 30 39 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94747588 94747588 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:94747588G>A ENST00000399300.2 - 3 1264 c.1051C>T c.(1051-1053)Cgt>Tgt p.R351C RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.R351C NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 351 RRM 2. 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) TGAACTGGACGATATTGTAAA 0.358000 21 28 0 0 1 0 0 LY6D 8581 broad.mit.edu 37 8 143866648 143866648 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:143866648G>A ENST00000301263.4 - 3 451 c.376C>T c.(376-378)Ccc>Tcc p.P126S LY6D_ENST00000518434.1_5'UTR NM_003695.2 NP_003686.1 Q14210 LY6D_HUMAN lymphocyte antigen 6 complex, locus D 126 cell adhesion anchored to membrane|membrane fraction|plasma membrane protein binding large_intestine(1)|lung(3)|prostate(1) 5 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CACAGGCTGGGGGCTAAGATG 0.662000 5 19 0 0 1 0 0 GLG1 2734 broad.mit.edu 37 16 74487084 74487084 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr16:74487084C>T ENST00000422840.2 - 26 3520 c.3521G>A c.(3520-3522)cGa>cAa p.R1174Q GLG1_ENST00000205061.5_Missense_Mutation_p.R1174Q|GLG1_ENST00000447066.2_Missense_Mutation_p.R1163Q NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 1174 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 CTTGAGCTCTCGTGTCACTCG 0.502000 37 51 0 0 1 0 0 TPMT 7172 broad.mit.edu 37 6 18139929 18139929 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:18139929G>A ENST00000309983.4 - 5 471 c.386C>T c.(385-387)tCa>tTa p.S129L NM_000367.2 NP_000358.1 P51580 TPMT_HUMAN thiopurine S-methyltransferase 129 xenobiotic metabolic process cytosol thiopurine S-methyltransferase activity large_intestine(2)|lung(1) 3 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.146) all cancers(50;0.06)|Epithelial(50;0.0654) Mercaptopurine(DB01033) ACAGTACAATGAAATGTTCCC 0.353000 33 21 0 0 1 0 0 MCM7 4176 broad.mit.edu 37 7 99693081 99693081 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:99693081G>A ENST00000303887.5 - 12 2253 c.1608C>T c.(1606-1608)caC>caT p.H536H MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Silent_p.H360H NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 536 Interaction with RAD17.|MCM. 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|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) CATAGGTGATGTGCTGGGCCA 0.577000 7 37 0 0 1 0 0 CDC23 8697 broad.mit.edu 37 5 137528294 137528294 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:137528294C>T ENST00000394886.2 - 10 1095 c.1065G>A c.(1063-1065)caG>caA p.Q355Q NM_004661.3 NP_004652.2 Q9UJX2 CDC23_HUMAN cell division cycle 23 355 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis anaphase-promoting complex|cytosol|nucleoplasm binding|ubiquitin-protein ligase activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TCAGGGCTCTCTGGAAATATA 0.373000 26 38 0 0 1 0 0 SPATA32 124783 broad.mit.edu 37 17 43333087 43333087 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:43333087G>A ENST00000543122.1 - 6 1180 c.399C>T c.(397-399)tcC>tcT p.S133S MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|SPATA32_ENST00000331780.4_Silent_p.S154S|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA spermatogenesis associated 32 AGAGGTGCTTGGAGGTCTGCG 0.582000 32 48 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94006333 94006333 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:94006333C>T ENST00000282020.4 + 3 690 c.432C>T c.(430-432)ctC>ctT p.L144L GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 144 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) ACTACACTCTCTCAGTTCGCC 0.488000 39 46 0 0 1 0 0 PCDHA11 56138 broad.mit.edu 37 5 140249494 140249494 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:140249494G>A ENST00000398640.2 + 1 806 c.806G>A c.(805-807)cGa>cAa p.R269Q PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_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) GCCACAGACCGAGACGAAGGA 0.388000 11 7 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21862493 21862493 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr14:21862493G>A ENST00000399982.2 - 30 5606 c.5542C>T c.(5542-5544)Cat>Tat p.H1848Y CHD8_ENST00000430710.3_Missense_Mutation_p.H1569Y|CHD8_ENST00000557364.1_Missense_Mutation_p.H1848Y NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1848 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) ACAAAGCCATGGAAGTACTTG 0.512000 24 28 0 0 1 0 0 DNAI1 27019 broad.mit.edu 37 9 34500828 34500828 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:34500828C>T ENST00000242317.4 + 11 1181 c.1010C>T c.(1009-1011)gCc>gTc p.A337V NM_012144.2 NP_036276.1 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 337 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) TCCGTCACTGCCCTCTGCTGG 0.547000 Kartagener syndrome OREG0019152 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 17 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20645810 20645810 + RNA SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr15:20645810G>A ENST00000428453.1 - 0 2955 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 AGGGAGCTGAGGGTGCCGCAC 0.627000 8 34 0 0 1 0 0 RHOBTB2 23221 broad.mit.edu 37 8 22864826 22864826 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:22864826C>T ENST00000251822.6 + 5 1605 c.1068C>T c.(1066-1068)ggC>ggT p.G356G RHOBTB2_ENST00000522948.1_Silent_p.G363G|RHOBTB2_ENST00000519685.1_Silent_p.G378G|RP11-875O11.1_ENST00000502083.2_RNA|RP11-875O11.1_ENST00000523884.1_RNA NM_015178.2 NP_055993.2 Q9BYZ6 RHBT2_HUMAN Rho-related BTB domain containing 2 356 BTB 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 31 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) AGGCTGGGGGCTCCGGTCCTG 0.637000 37 52 0 0 1 0 0 MISP 126353 broad.mit.edu 37 19 757739 757739 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:757739C>T ENST00000215582.6 + 2 896 c.793C>T c.(793-795)Ccc>Tcc p.P265S NM_173481.2 NP_775752.1 mitotic spindle positioning GCGTGCTGTGCCCACCTGGGC 0.647000 18 25 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92592355 92592355 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:92592355G>A ENST00000298047.6 + 20 11542 c.11525G>A c.(11524-11526)gGa>gAa p.G3842E FAT3_ENST00000409404.2_Missense_Mutation_p.G3842E|FAT3_ENST00000525166.1_Missense_Mutation_p.G3692E|FAT3_ENST00000533797.1_Missense_Mutation_p.G177E Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3842 Laminin G-like. 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) AGCTTTGCTGGAAACAGTTAC 0.388000 TCGA Ovarian(4;0.039) 12 29 0 0 1 0 0 EBF2 64641 broad.mit.edu 37 8 25745418 25745418 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:25745418G>A ENST00000520164.1 - 9 1359 c.822C>T c.(820-822)atC>atT p.I274I EBF2_ENST00000408929.3_Silent_p.I126I|EBF2_ENST00000535548.1_Silent_p.I5I NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 274 IPT/TIG. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) AGTTGTCCCCGATGATGATGA 0.498000 23 37 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1426855 1426855 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:1426855G>A ENST00000345913.4 + 3 224 c.133G>A c.(133-135)Gaa>Aaa p.E45K TPO_ENST00000337415.3_Missense_Mutation_p.E45K|TPO_ENST00000497517.2_Intron|TPO_ENST00000382269.3_Missense_Mutation_p.E45K|TPO_ENST00000382198.1_Missense_Mutation_p.E45K|TPO_ENST00000382201.3_Missense_Mutation_p.E45K|TPO_ENST00000539820.1_Missense_Mutation_p.E45K|TPO_ENST00000346956.3_Missense_Mutation_p.E45K|TPO_ENST00000349624.3_Missense_Mutation_p.E45K|TPO_ENST00000329066.4_Missense_Mutation_p.E45K NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 45 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CGTCTTGGAGGAAAGCAAGCG 0.587000 16 24 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27099905 27099905 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:27099905C>T ENST00000324856.7 + 15 4155 c.3784C>T c.(3784-3786)Cgt>Tgt p.R1262C ARID1A_ENST00000457599.2_Missense_Mutation_p.R1262C|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Missense_Mutation_p.R879C NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1262 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCCCTACAGTCGTGCTGCCGG 0.592000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 28 31 0 0 1 0 0 MDM1 56890 broad.mit.edu 37 12 68707496 68707496 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:68707496G>A ENST00000303145.7 - 10 1623 c.1537C>T c.(1537-1539)Ctt>Ttt p.L513F MDM1_ENST00000411698.2_Missense_Mutation_p.L478F|MDM1_ENST00000540418.1_Missense_Mutation_p.L233F NM_017440.4 NP_059136.2 Q8TC05 MDM1_HUMAN Mdm1 nuclear protein homolog (mouse) 513 nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7) 33 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) GGAGTAGGAAGCCGGCCTCCT 0.408000 29 31 0 0 1 0 0 ALOX15B 247 broad.mit.edu 37 17 7950260 7950260 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:7950260G>A ENST00000380183.4 + 10 1462 c.1323G>A c.(1321-1323)ttG>ttA p.L441L ALOX15B_ENST00000573359.1_Silent_p.L412L|ALOX15B_ENST00000572022.1_Silent_p.L441L|ALOX15B_ENST00000380173.2_Silent_p.L412L NM_001141.2 NP_001132.2 O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, type B 441 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 TCTCTGAGTTGATACAGAGGA 0.532000 37 29 0 0 1 0 0 UBAP2 55833 broad.mit.edu 37 9 33923424 33923424 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:33923424G>A ENST00000379238.1 - 25 2966 c.2849C>T c.(2848-2850)cCt>cTt p.P950L UBAP2_ENST00000539807.1_Missense_Mutation_p.P705L|UBAP2_ENST00000379239.4_Missense_Mutation_p.P683L|UBAP2_ENST00000379235.1_Missense_Mutation_p.P189L|UBAP2_ENST00000449054.1_Missense_Mutation_p.P950L|UBAP2_ENST00000360802.1_Missense_Mutation_p.P950L Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 950 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) CTGGAAGGGAGGTGTGGGAGT 0.587000 123 195 0 0 1 0 0 TRAPPC12 51112 broad.mit.edu 37 2 3392243 3392243 + Silent SNP C C T rs147425056 TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:3392243C>T ENST00000324266.5 + 2 1044 c.849C>T c.(847-849)atC>atT p.I283I TRAPPC12_ENST00000382110.2_Silent_p.I283I NM_016030.5 NP_057114.5 Q8WVT3 TTC15_HUMAN trafficking protein particle complex 12 283 binding TCGCGCACATCCAGGCAGTGT 0.716000 18 10 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54420781 54420781 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr3:54420781G>A ENST00000474759.1 + 4 409 c.361G>A c.(361-363)Gaa>Aaa p.E121K CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E27K|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E121K|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E121K NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 121 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CCTGAAACATGAATTTGATGC 0.393000 3 9 0 0 1 0 0 MROH6 642475 broad.mit.edu 37 8 144650333 144650333 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:144650333C>T ENST00000398882.3 - 11 1999 c.1743G>A c.(1741-1743)ctG>ctA p.L581L MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000533679.1_Intron|MROH6_ENST00000524906.1_5'UTR NM_001100878.1 NP_001094348.1 maestro heat-like repeat family member 6 AGAGGTGGCTCAGGGCCTCGG 0.652000 6 10 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10603436 10603436 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:10603436C>T ENST00000547195.1 - 18 2565 c.2065G>A c.(2065-2067)Gag>Aag p.E689K LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000531107.1_Missense_Mutation_p.E772K|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000527509.2_Missense_Mutation_p.E689K|MRVI1_ENST00000421747.1_Missense_Mutation_p.E771K|MRVI1_ENST00000552103.1_Missense_Mutation_p.E689K|MRVI1_ENST00000534266.2_Missense_Mutation_p.E465K|MRVI1_ENST00000423302.2_Missense_Mutation_p.E780K|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000541483.1_Missense_Mutation_p.E574K|MRVI1_ENST00000436272.1_Missense_Mutation_p.E753K|MRVI1_ENST00000558540.1_Missense_Mutation_p.E465K|MRVI1_ENST00000424001.1_Missense_Mutation_p.E465K|MRVI1_ENST00000545852.1_Missense_Mutation_p.E465K NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 753 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) GCTTCTTCCTCCATCCTGGCC 0.557000 29 45 0 0 1 0 0 ABHD15 116236 broad.mit.edu 37 17 27889630 27889630 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:27889630G>A ENST00000307201.4 - 2 1526 c.1356C>T c.(1354-1356)tcC>tcT p.S452S RP11-68I3.2_ENST00000581474.1_RNA NM_198147.2 NP_937790.2 Q6UXT9 ABH15_HUMAN abhydrolase domain containing 15 452 extracellular region carboxylesterase activity breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 10 GGTTGGAAGAGGAAGAGACTT 0.557000 34 71 0 0 1 0 0 GALNT14 79623 broad.mit.edu 37 2 31133827 31133827 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:31133827G>A ENST00000349752.5 - 15 2238 c.1599C>T c.(1597-1599)atC>atT p.I533I GALNT14_ENST00000324589.5_Silent_p.I538I|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000420311.2_Silent_p.I498I|GALNT14_ENST00000406653.1_Silent_p.I513I|GALNT14_ENST00000356174.3_Silent_p.I500I NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 533 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) GGTTGACGACGATTTCCTTGC 0.557000 25 29 0 0 1 0 0 OR52E6 390078 broad.mit.edu 37 11 5863101 5863101 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:5863101G>A ENST00000329322.5 - 1 26 c.27C>T c.(25-27)ttC>ttT p.F9F OR52E6_ENST00000379946.2_Silent_p.F13F|TRIM5_ENST00000380027.1_Intron NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAGAAGTATGGAACTGGGTGT 0.423000 21 34 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46762942 46762942 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr22:46762942C>T ENST00000262738.3 - 29 8152 c.8153G>A c.(8152-8154)gGg>gAg p.G2718E NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2718 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CAGCTTCCTCCCGCCGAGCAC 0.697000 OREG0026655 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 12 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196709832 196709832 + Missense_Mutation SNP C C G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:196709832C>G ENST00000312428.6 - 47 8939 c.8839G>C c.(8839-8841)Gat>Cat p.D2947H NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2947 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AGAGAGCAATCATCTGAGCAG 0.398000 8 22 0 0 1 0 0 ZNF106 64397 broad.mit.edu 37 15 42742899 42742899 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr15:42742899G>A ENST00000263805.4 - 2 1828 c.1502C>T c.(1501-1503)cCt>cTt p.P501L ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 GGATATGTAAGGACCATGGTT 0.363000 68 90 0 0 1 0 0 CHRNA10 57053 broad.mit.edu 37 11 3688687 3688687 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:3688687G>A ENST00000250699.2 - 4 741 c.670C>T c.(670-672)Ccc>Tcc p.P224S CHRNA10_ENST00000534359.1_Silent_p.T41T NM_020402.2 NP_065135.2 Q9GZZ6 ACH10_HUMAN cholinergic receptor, nicotinic, alpha 10 (neuronal) 224 elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic cell junction|postsynaptic membrane calcium channel activity|receptor activity|receptor binding breast(1)|endometrium(2)|lung(3)|ovary(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577) BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192) Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116) GTGACGTCGGGGTAGGGCTCG 0.721000 11 20 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10430364 10430364 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:10430364G>A ENST00000245503.5 - 29 4265 c.3881C>T c.(3880-3882)tCa>tTa p.S1294L CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.S1294L|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1294 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 AAGCTGGCGTGAAAACTCACC 0.388000 26 15 0 0 1 0 0 ZNF691 51058 broad.mit.edu 37 1 43317029 43317029 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:43317029C>T ENST00000372504.1 + 5 816 c.466C>T c.(466-468)Cac>Tac p.H156Y ZNF691_ENST00000372506.1_Missense_Mutation_p.H134Y|ZNF691_ENST00000372508.3_Missense_Mutation_p.H134Y|ZNF691_ENST00000397044.3_Missense_Mutation_p.H165Y|ZNF691_ENST00000372502.1_Missense_Mutation_p.H156Y|ZNF691_ENST00000372507.1_Missense_Mutation_p.H134Y Q5VV52 ZN691_HUMAN zinc finger protein 691 165 nucleus DNA binding|zinc ion binding large_intestine(2)|lung(2)|ovary(2)|prostate(1) 7 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CGAGCGGATCCACCTGGAAGA 0.572000 19 21 0 0 1 0 0 PIM3 415116 broad.mit.edu 37 22 50354965 50354965 + Splice_Site SNP G G T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr22:50354965G>T ENST00000360612.4 + 3 630 c.e3-1 NM_001001852.3 NP_001001852.2 Q86V86 PIM3_HUMAN pim-3 oncogene cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle ATP binding|protein binding|protein serine/threonine kinase activity all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247) CGTCTCCGCAGGTGGCTGTGA 0.771000 7 20 0.361761 0.361761 1 1 0 ETNK2 55224 broad.mit.edu 37 1 204115774 204115774 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:204115774G>A ENST00000367202.4 - 3 787 c.637C>T c.(637-639)Ccc>Tcc p.P213S ETNK2_ENST00000367201.3_Missense_Mutation_p.P213S|ETNK2_ENST00000367198.2_Missense_Mutation_p.P35S|ETNK2_ENST00000367199.2_Intron NM_018208.2 NP_060678.2 Q9NVF9 EKI2_HUMAN ethanolamine kinase 2 213 ATP binding|choline kinase activity|ethanolamine kinase activity breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1) 7 all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) TTGTACCTGGGGTTGATCTCG 0.522000 44 98 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24413262 24413262 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:24413262G>A ENST00000330966.7 - 15 1835 c.1673C>T c.(1672-1674)tCc>tTc p.S558F MYOM3_ENST00000329601.7_Missense_Mutation_p.S557F|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.S557F|MYOM3_ENST00000475306.1_5'UTR Q5VTT5 MYOM3_HUMAN myomesin 3 557 Fibronectin type-III 2. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GAATCTCGGGGATCTCACAGG 0.557000 26 45 0 0 1 0 0 PRDM15 63977 broad.mit.edu 37 21 43279754 43279754 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr21:43279754G>A ENST00000422911.1 - 3 290 c.189C>T c.(187-189)ccC>ccT p.P63P PRDM15_ENST00000538201.1_Silent_p.P26P|PRDM15_ENST00000398548.1_Silent_p.P63P|PRDM15_ENST00000269844.3_Silent_p.P326P|PRDM15_ENST00000447207.2_Silent_p.P26P P57071 PRD15_HUMAN PR domain containing 15 326 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 GGCCCAGCTCGGGACATTCGG 0.582000 12 26 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90020726 90020726 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:90020726G>A ENST00000405460.2 + 46 9922 c.9826G>A c.(9826-9828)Gaa>Aaa p.E3276K NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3276 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.E3276K(1) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CTTTACTTTGGAAAATTTAAT 0.328000 20 34 0 0 1 0 0 TRBV5-7 28608 broad.mit.edu 37 7 142111625 142111625 + RNA SNP G G T rs143168323 by1000genomes TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:142111625G>T ENST00000390378.1 - 0 110 TCAGAGTCACGTGCTGTCCTC 0.532000 4 254 4.68919e-08 4.72268e-08 1 1 0 CACNA2D4 93589 broad.mit.edu 37 12 1963158 1963158 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:1963158G>A ENST00000382722.5 - 23 2567 c.2205C>T c.(2203-2205)ccC>ccT p.P735P CACNA2D4_ENST00000588077.1_Silent_p.P671P|CACNA2D4_ENST00000587995.1_Silent_p.P710P|CACNA2D4_ENST00000586184.1_Silent_p.P735P|CACNA2D4_ENST00000585708.1_Silent_p.P671P|CACNA2D4_ENST00000585732.1_Silent_p.P596P|CACNA2D4_ENST00000539048.2_Intron NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 735 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity p.P735P(1) endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) AGGCTTCCATGGGGGCTGTCA 0.612000 10 20 0 0 1 0 0 PEX2 5828 broad.mit.edu 37 8 77896063 77896063 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:77896063C>T ENST00000419564.2 - 4 816 c.352G>A c.(352-354)Gaa>Aaa p.E118K PEX2_ENST00000522527.1_Missense_Mutation_p.E118K|PEX2_ENST00000357039.4_Missense_Mutation_p.E118K|PEX2_ENST00000520103.1_Missense_Mutation_p.E118K NM_001172087.1 NP_001165558.1 P28328 PEX2_HUMAN peroxisomal biogenesis factor 2 118 peroxisome organization integral to peroxisomal membrane protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 14 TAGCATCGTTCTTCTAACCAC 0.378000 28 21 0 0 1 0 0 NUP98 4928 broad.mit.edu 37 11 3741981 3741981 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:3741981C>T ENST00000324932.7 - 17 2641 c.2221G>A c.(2221-2223)Gga>Aga p.G741R NUP98_ENST00000397004.4_Missense_Mutation_p.G741R|NUP98_ENST00000359171.4_Missense_Mutation_p.G741R|NUP98_ENST00000397007.4_Missense_Mutation_p.G758R|NUP98_ENST00000355260.3_Missense_Mutation_p.G741R NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 758 Peptidase S59. carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) ATGCACTCTCCTTTTTCATTG 0.333000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 14 24 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101844394 101844394 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr13:101844394G>A ENST00000251127.6 - 14 1719 c.1638C>T c.(1636-1638)tcC>tcT p.S546S NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Silent_p.S546S NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 546 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TCTGGAACATGGACATAAATG 0.428000 11 12 0 0 1 0 0 ARFRP1 10139 broad.mit.edu 37 20 62333528 62333528 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr20:62333528G>A ENST00000359715.4 - 4 872 c.306C>T c.(304-306)tcC>tcT p.S102S ARFRP1_ENST00000324228.2_Silent_p.S102S|ARFRP1_ENST00000440854.1_Silent_p.S102S Q13795 ARFRP_HUMAN ADP-ribosylation factor related protein 1 102 small GTPase mediated signal transduction Golgi apparatus|membrane fraction GTP binding|GTPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09) Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102) CCTCGTCGGTGGAGTCAATGA 0.627000 20 31 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 5 29 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18378061 18378061 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr22:18378061G>A ENST00000441493.2 - 10 1790 c.1438C>T c.(1438-1440)Cgg>Tgg p.R480W MICAL3_ENST00000429452.1_Missense_Mutation_p.R480W|MICAL3_ENST00000207726.7_Missense_Mutation_p.R480W|MICAL3_ENST00000383094.3_Missense_Mutation_p.R480W|MICAL3_ENST00000414725.2_Missense_Mutation_p.R480W|MICAL3_ENST00000400561.2_Missense_Mutation_p.R480W|MICAL3_ENST00000585038.1_Missense_Mutation_p.R480W|MICAL3_ENST00000444520.1_Missense_Mutation_p.R480W NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 480 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) TGGCTTGGCCGGAGGAAGTTG 0.483000 8 15 0 0 1 0 0 AKR7A3 22977 broad.mit.edu 37 1 19611602 19611602 + Missense_Mutation SNP A A T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:19611602A>T ENST00000361640.4 - 4 1054 c.514T>A c.(514-516)Tac>Aac p.Y172N NM_012067.2 NP_036199.2 O95154 ARK73_HUMAN aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) 172 cellular aldehyde metabolic process cytosol aldo-keto reductase (NADP) activity|electron carrier activity NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2) 13 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) ATGGCATTGTACATGCCCTGT 0.537000 24 27 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114058231 114058231 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr3:114058231G>A ENST00000462705.1 - 12 2449 c.1628C>T c.(1627-1629)tCc>tTc p.S543F ZBTB20_ENST00000393785.2_Missense_Mutation_p.S543F|ZBTB20_ENST00000481632.1_Missense_Mutation_p.S543F|ZBTB20_ENST00000471418.1_Missense_Mutation_p.S543F|ZBTB20_ENST00000474710.1_Missense_Mutation_p.S616F|ZBTB20_ENST00000357258.3_Missense_Mutation_p.S543F|ZBTB20_ENST00000464560.1_Missense_Mutation_p.S543F NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 616 S -> F (in Ref. 5; AAH29041). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) ATCCTTTAAGGAGAAGGAGCG 0.512000 34 6 0 0 1 0 0 UCP2 7351 broad.mit.edu 37 11 73686708 73686708 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:73686708G>A ENST00000310473.3 - 7 1485 c.643C>T c.(643-645)Cct>Tct p.P215S UCP2_ENST00000536983.1_Intron NM_003355.2 NP_003346.2 P55851 UCP2_HUMAN uncoupling protein 2 (mitochondrial, proton carrier) 215 proton transport|respiratory electron transport chain integral to membrane|mitochondrial inner membrane binding large_intestine(1)|lung(3)|prostate(1) 5 Breast(11;0.000112) AAGTGGCAAGGGAGGTCATCT 0.522000 27 35 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72152207 72152207 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr14:72152207C>T ENST00000555818.1 + 10 3581 c.3233C>T c.(3232-3234)tCa>tTa p.S1078L SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S553L|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1078L|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1078L NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1078 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GGGCCTCATTCACCTCAAGTC 0.507000 17 22 0 0 1 0 0 SALL4 57167 broad.mit.edu 37 20 50407222 50407222 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr20:50407222G>A ENST00000217086.4 - 2 1911 c.1800C>T c.(1798-1800)ggC>ggT p.G600G SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 600 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AAAAGGCTCGGCCACAGATCT 0.517000 29 26 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43052848 43052848 + Silent SNP C C T rs142268325 TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr20:43052848C>T ENST00000316099.3 + 8 1172 c.1083C>T c.(1081-1083)ttC>ttT p.F361F HNF4A_ENST00000443598.2_Silent_p.F361F|HNF4A_ENST00000457232.1_Silent_p.F339F|HNF4A_ENST00000415691.1_Silent_p.F361F NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 361 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TCAAGCTCTTCGGCATGGCCA 0.607000 11 18 0 0 1 0 0 OR12D3 81797 broad.mit.edu 37 6 29342395 29342395 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:29342395G>A ENST00000396806.3 - 1 673 c.670C>T c.(670-672)Ctg>Ttg p.L224L OR5V1_ENST00000377154.1_Intron NM_030959.2 NP_112221.1 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, member 3 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 TTCTTAAACAGAAGGAAGCCA 0.448000 22 60 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143807596 143807596 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:143807596G>A ENST00000408979.2 + 1 990 c.921G>A c.(919-921)aaG>aaA p.K307K NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) TCCAGAGGAAGAGGTCCATGA 0.428000 36 203 0 0 1 0 0 MTNR1A 4543 broad.mit.edu 37 4 187454983 187454983 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:187454983C>T ENST00000307161.5 - 2 1114 c.913G>A c.(913-915)Gaa>Aaa p.E305K RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 305 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) CTCCTGTATTCCTTCCTGAAA 0.473000 61 79 0 0 1 0 0 PCSK9 255738 broad.mit.edu 37 1 55512301 55512301 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:55512301G>A ENST00000302118.5 + 3 795 c.505G>A c.(505-507)Gat>Aat p.D169N PCSK9_ENST00000543384.1_Intron|PCSK9_ENST00000452118.2_Missense_Mutation_p.D169N NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 169 Peptidase S8. cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 GTACCGGGCGGATGAATACCA 0.622000 11 21 0 0 1 0 0 FBXO46 23403 broad.mit.edu 37 19 46215527 46215527 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:46215527G>A ENST00000317683.3 - 2 1360 c.1227C>T c.(1225-1227)ttC>ttT p.F409F NM_001080469.1 NP_001073938.1 Q6PJ61 FBX46_HUMAN F-box protein 46 409 protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 15 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) TCTGGAGAAAGAAGAGCTGGC 0.701000 16 23 0 0 1 0 0 HNF1A 6927 broad.mit.edu 37 12 121437400 121437400 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:121437400C>T ENST00000257555.6 + 9 1964 c.1738C>T c.(1738-1740)Ccg>Tcg p.P580S HNF1A_ENST00000544413.1_Missense_Mutation_p.P587S|HNF1A_ENST00000541395.1_Missense_Mutation_p.P611S P20823 HNF1A_HUMAN HNF1 homeobox A 580 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GCACCTGCAGCCGGCCCACCG 0.692000 Hepatic Adenoma, Familial Clustering of 10 27 0 0 1 0 0 OR14A16 284532 broad.mit.edu 37 1 247978344 247978344 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:247978344C>T ENST00000357627.1 - 1 687 c.688G>A c.(688-690)Gaa>Aaa p.E230K NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 GACTGGCCTTCTGTGGAAGGG 0.408000 22 55 0 0 1 0 0 PRAME 23532 broad.mit.edu 37 22 22890661 22890661 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr22:22890661C>T ENST00000543184.1 - 5 2220 c.1358G>A c.(1357-1359)gGt>gAt p.G453D PRAME_ENST00000402697.1_Missense_Mutation_p.G453D|PRAME_ENST00000398743.2_Missense_Mutation_p.G453D|PRAME_ENST00000424204.2_Missense_Mutation_p.G437D|PRAME_ENST00000539862.1_Missense_Mutation_p.G437D|PRAME_ENST00000398741.1_Missense_Mutation_p.G453D|PRAME_ENST00000405655.3_Missense_Mutation_p.G453D NM_206953.1 NP_996836.1 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 453 Mediates interaction with RARA. apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding p.G453V(1) autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) GTGGAGGGTACCATGGATGTC 0.587000 34 42 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42041375 42041375 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr15:42041375C>T ENST00000219905.7 + 17 5751 c.5570C>T c.(5569-5571)tCg>tTg p.S1857L MGA_ENST00000545763.1_Missense_Mutation_p.S1648L|MGA_ENST00000570161.1_Missense_Mutation_p.S1857L|MGA_ENST00000566586.1_Missense_Mutation_p.S1648L|MGA_ENST00000389936.4_Missense_Mutation_p.S1818L NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1818 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TCTTCCACTTCGTCCTCTGCT 0.443000 45 55 0 0 1 0 0 ASMTL 8623 broad.mit.edu 37 X 1544511 1544511 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chrX:1544511C>T ENST00000534940.1 - 8 1018 c.793G>A c.(793-795)Gat>Aat p.D265N ASMTL_ENST00000416733.2_Missense_Mutation_p.D247N|ASMTL_ENST00000381333.4_Missense_Mutation_p.D307N|ASMTL_ENST00000381317.3_Missense_Mutation_p.D323N NM_001173473.1 NP_001166944.1 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 323 melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1) 23 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) CTGGCAATATCCGCAGCCTTC 0.522000 9 13 0 0 1 0 0 MFSD6L 162387 broad.mit.edu 37 17 8701726 8701726 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:8701726G>A ENST00000329805.4 - 1 941 c.713C>T c.(712-714)tCc>tTc p.S238F NM_152599.3 NP_689812.3 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 6-like 238 integral to membrane p.S238L(1) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4) 17 CGCCTCCAAGGACAGGTCAAA 0.612000 38 39 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154237647 154237647 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:154237647G>A ENST00000404039.1 + 4 883 c.296G>A c.(295-297)gGa>gAa p.G99E DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000332007.3_Missense_Mutation_p.G101E|DPP6_ENST00000377770.3_Missense_Mutation_p.G163E|DPP6_ENST00000427557.1_Missense_Mutation_p.G101E|DPP6_ENST00000406326.1_Missense_Mutation_p.G163E NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 163 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GAACAGAAAGGAACAGTGAGA 0.353000 6 35 0 0 1 0 0 DFNB31 25861 broad.mit.edu 37 9 117185686 117185686 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:117185686C>T ENST00000362057.3 - 7 1702 c.1534G>A c.(1534-1536)Ggg>Agg p.G512R DFNB31_ENST00000374059.3_Missense_Mutation_p.G161R|DFNB31_ENST00000265134.6_Missense_Mutation_p.G129R NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219.3 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 512 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 TCCCCAGCCCCGGGGCCTGGG 0.642000 45 64 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111947816 111947816 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:111947816C>T ENST00000374566.3 - 23 2888 c.2371G>A c.(2371-2373)Gaa>Aaa p.E791K NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 791 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GTGGTCTCTTCCTTCATGGGG 0.617000 13 30 0 0 1 0 0 DFNB31 25861 broad.mit.edu 37 9 117185685 117185685 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:117185685C>T ENST00000362057.3 - 7 1703 c.1535G>A c.(1534-1536)gGg>gAg p.G512E DFNB31_ENST00000374059.3_Missense_Mutation_p.G161E|DFNB31_ENST00000265134.6_Missense_Mutation_p.G129E NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219.3 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 512 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 GTCCCCAGCCCCGGGGCCTGG 0.642000 46 66 0 0 1 0 0 FAM50B 26240 broad.mit.edu 37 6 3850601 3850601 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:3850601G>A ENST00000380274.1 + 1 982 c.556G>A c.(556-558)Gag>Aag p.E186K FAM50B_ENST00000380272.3_Missense_Mutation_p.E186K Q9Y247 FA50B_HUMAN family with sequence similarity 50, member B 186 nucleus cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3) 17 Ovarian(93;0.0925) all_hematologic(90;0.108) CGAGGAGATGGAGGTCACCTT 0.677000 26 91 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25755615 25755615 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr10:25755615G>A ENST00000376351.3 + 5 1730 c.1371G>A c.(1369-1371)acG>acA p.T457T NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 457 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TGTTGGAAACGATCCTTTTTG 0.338000 13 3 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140735654 140735654 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:140735654C>T ENST00000571252.1 + 1 887 c.887C>T c.(886-888)tCt>tTt p.S296F PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGTTGAATTCTCTGAGTGGG 0.443000 9 23 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19339370 19339370 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:19339370G>A ENST00000252575.5 + 8 2984 c.2941G>A c.(2941-2943)Gag>Aag p.E981K NCAN_ENST00000538881.1_Missense_Mutation_p.E432K NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 981 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CCCGGGTGTAGAGAGCTTCTG 0.647000 50 61 0 0 1 0 0 ERAP1 51752 broad.mit.edu 37 5 96127814 96127814 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:96127814C>T ENST00000296754.3 - 8 1527 c.1270G>A c.(1270-1272)Gaa>Aaa p.E424K ERAP1_ENST00000443439.2_Missense_Mutation_p.E424K NM_016442.3 NP_057526.3 Q9NZ08 ERAP1_HUMAN endoplasmic reticulum aminopeptidase 1 424 angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2) 19 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) GCAGGATTTTCCACAGGTGTA 0.358000 28 53 0 0 1 0 0 OAS2 4939 broad.mit.edu 37 12 113425079 113425079 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:113425079C>T ENST00000392583.2 + 2 621 c.414C>T c.(412-414)atC>atT p.I138I RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Silent_p.I138I|OAS2_ENST00000449768.2_Silent_p.I138I NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 138 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 ATCAGAGAATCTCTTTCGAGG 0.488000 29 31 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25333904 25333904 + RNA SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr15:25333904C>T ENST00000546682.1 + 0 586 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA NR_003361.1 CACTTCTTTCCCAGAGCACTC 0.473000 25 32 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107600072 107600072 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:107600072G>A ENST00000393560.1 - 19 2684 c.2522C>T c.(2521-2523)tCc>tTc p.S841F LAMB1_ENST00000393561.1_Intron|LAMB1_ENST00000222399.6_Intron P07942 LAMB1_HUMAN laminin, beta 1 0 Laminin EGF-like 7. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGCAGCAATGGAACCCTGCCA 0.478000 28 11 0 0 1 0 0 TMEM151A 256472 broad.mit.edu 37 11 66063092 66063092 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:66063092G>A ENST00000327259.4 + 2 1519 c.1375G>A c.(1375-1377)Ggc>Agc p.G459S NM_153266.3 NP_694998.1 Q8N4L1 T151A_HUMAN transmembrane protein 151A 459 integral to membrane central_nervous_system(1)|kidney(4)|lung(6) 11 CGGAGACAGCGGCTGCCAGGG 0.682000 8 10 0 0 1 0 0 XRCC1 7515 broad.mit.edu 37 19 44056203 44056203 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:44056203G>A ENST00000262887.5 - 9 1595 c.1048C>T c.(1048-1050)Cgg>Tgg p.R350W XRCC1_ENST00000543982.1_Missense_Mutation_p.R319W P18887 XRCC1_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 1 350 BRCT 1. R -> W (in a colorectal cancer sample; somatic mutation). base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding p.R350W(1) breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Prostate(69;0.0153) CAGTCTGGCCGATACTTGGCC 0.642000 Other BER factors 41 68 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1269218 1269218 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:1269218C>T ENST00000447027.1 + 31 11175 c.11117C>T c.(11116-11118)aCt>aTt p.T3706I MUC5B_ENST00000529681.1_Missense_Mutation_p.T3703I|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3703 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCCACTACGACTGAGTCCACT 0.662000 89 98 0 0 1 0 0 MTMR4 9110 broad.mit.edu 37 17 56573474 56573474 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:56573474G>A ENST00000323456.5 - 16 2153 c.2029C>T c.(2029-2031)Cct>Tct p.P677S MTMR4_ENST00000579925.1_Missense_Mutation_p.P620S NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 677 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGCAGAGGAGGAGGAAGACCC 0.517000 57 56 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9058359 9058359 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:9058359C>T ENST00000397910.4 - 3 29290 c.29087G>A c.(29086-29088)gGa>gAa p.G9696E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9698 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGTGAAAGTCCTTGAGACAT 0.488000 19 26 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41496209 41496209 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr21:41496209G>A ENST00000400454.1 - 20 4086 c.3609C>T c.(3607-3609)tcC>tcT p.S1203S NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1203 Fibronectin type-III 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CAAAGACCATGGAGGCTGAGG 0.572000 12 116 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152326774 152326774 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:152326774G>A ENST00000388718.5 - 3 3560 c.3488C>T c.(3487-3489)tCa>tTa p.S1163L FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1163 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACAGCCAGATGATTGACTGGA 0.488000 103 62 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179441453 179441453 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:179441453C>T ENST00000589042.1 - 325 69742 c.69518G>A c.(69517-69519)gGa>gAa p.G23173E TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14233E|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G21532E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14108E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20605E|TTN_ENST00000342175.6_Missense_Mutation_p.G14300E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21532 Fibronectin type-III 68. 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) TACATGATATCCTGTAATTTC 0.463000 67 88 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178564851 178564851 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:178564851C>T ENST00000251582.7 - 12 1971 c.1870G>A c.(1870-1872)Gag>Aag p.E624K NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 624 Cys-rich. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CACTGCTCCTCGCGGAAGTCA 0.706000 5 2 0 0 1 0 0 INHBA 3624 broad.mit.edu 37 7 41729866 41729866 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:41729866G>A ENST00000242208.4 - 3 909 c.663C>T c.(661-663)ttC>ttT p.F221F INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Silent_p.F221F|AC005027.3_ENST00000416150.1_RNA NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 221 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 TGGAGACAGGGAAGACATGCC 0.592000 TSP Lung(11;0.080) 20 26 0 0 1 0 0 PTX4 390667 broad.mit.edu 37 16 1536420 1536420 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr16:1536420C>T ENST00000440447.2 - 3 583 c.512G>A c.(511-513)aGg>aAg p.R171K PTX4_ENST00000447419.2_Silent_p.E319E|PTX4_ENST00000293922.1_Silent_p.E314E Q96A99 PTX4_HUMAN pentraxin 4, long 0 extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 TGTCATTGTCCTCGGTGGCGT 0.672000 34 40 0 0 1 0 0 PRKCA 5578 broad.mit.edu 37 17 64684512 64684512 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:64684512C>T ENST00000413366.3 + 7 805 c.779C>T c.(778-780)tCc>tTc p.S260F NM_002737.2 NP_002728.1 P17252 KPCA_HUMAN protein kinase C, alpha 260 C2. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) GGATCCCTTTCCTTTGGAGTT 0.463000 22 34 0 0 1 0 0 CHRNA10 57053 broad.mit.edu 37 11 3688688 3688688 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:3688688G>A ENST00000534359.1 - 4 718 c.122C>T c.(121-123)aCc>aTc p.T41I CHRNA10_ENST00000250699.2_Silent_p.Y223Y Q9GZZ6 ACH10_HUMAN cholinergic receptor, nicotinic, alpha 10 (neuronal) 368 elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic cell junction|postsynaptic membrane calcium channel activity|receptor activity|receptor binding breast(1)|endometrium(2)|lung(3)|ovary(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577) BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192) Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116) TGACGTCGGGGTAGGGCTCGG 0.721000 11 20 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51174664 51174664 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr16:51174664C>T ENST00000440970.1 - 2 1609 c.1178G>A c.(1177-1179)gGg>gAg p.G393E SALL1_ENST00000251020.4_Missense_Mutation_p.G490E|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 490 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) TTTCAGATTCCCCTTGGTGGA 0.512000 30 68 0 0 1 0 0 SBK1 388228 broad.mit.edu 37 16 28331906 28331906 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr16:28331906C>T ENST00000341901.4 + 4 1728 c.939C>T c.(937-939)ctC>ctT p.L313L NM_001024401.2 NP_001019572.1 Q52WX2 SBK1_HUMAN SH3 domain binding kinase 1 313 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity kidney(1)|lung(3)|ovary(1) 5 TCCGCTTCCTCAAGCACGAGC 0.766000 7 3 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39263570 39263570 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr13:39263570G>A ENST00000280481.7 + 1 2305 c.2089G>A c.(2089-2091)Gat>Aat p.D697N NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 697 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) CCATCCTGTGGATCGCCTCCC 0.557000 33 39 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103338453 103338453 + Missense_Mutation SNP C C G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:103338453C>G ENST00000428762.1 - 10 1149 c.990G>C c.(988-990)caG>caC p.Q330H RELN_ENST00000343529.5_Missense_Mutation_p.Q330H|RELN_ENST00000424685.2_Missense_Mutation_p.Q330H NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 330 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GAAGATTTTCCTGCTTCCACT 0.453000 178 82 0 0 1 0 0 SEC23B 10483 broad.mit.edu 37 20 18505092 18505092 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr20:18505092C>T ENST00000336714.3 + 5 814 c.382C>T c.(382-384)Cct>Tct p.P128S SEC23B_ENST00000377475.3_Missense_Mutation_p.P128S|SEC23B_ENST00000377465.1_Missense_Mutation_p.P128S|SEC23B_ENST00000262544.2_Missense_Mutation_p.P128S NM_006363.4|NM_032985.4|NM_032986.3 NP_006354.2|NP_116780.1|NP_116781.1 Q15437 SC23B_HUMAN Sec23 homolog B (S. cerevisiae) 128 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 TGCTCAGTCCCCTCTGATCTT 0.428000 31 42 0 0 1 0 0 HIPK2 28996 broad.mit.edu 37 7 139258054 139258054 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:139258054G>A ENST00000406875.3 - 15 3310 c.3216C>T c.(3214-3216)tcC>tcT p.S1072S HIPK2_ENST00000428878.2_Silent_p.S1045S NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 1072 Autoinhibitory domain (AID). apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) TGTGCGGGAAGGAGTACGGAG 0.677000 156 63 0 0 1 0 0 PINK1 65018 broad.mit.edu 37 1 20960316 20960316 + Missense_Mutation SNP G G A rs45540544 TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:20960316G>A ENST00000321556.4 + 1 369 c.275G>A c.(274-276)tGc>tAc p.C92Y NM_032409.2 NP_115785.1 Q9BXM7 PINK1_HUMAN PTEN induced putative kinase 1 92 C -> F (in PARK6). cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress cytosol|integral to membrane|mitochondrial outer membrane ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2) 14 all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GCCTGGGGCTGCGCGGGCCCT 0.726000 9 3 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152644623 152644623 + Missense_Mutation SNP G G A rs149215868 TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:152644623G>A ENST00000367255.5 - 82 16508 c.15907C>T c.(15907-15909)Cgg>Tgg p.R5303W SYNE1_ENST00000448038.1_Missense_Mutation_p.R5232W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R4996W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R5232W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R5303W NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5303 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTCAGGCACCGATCTTGCATG 0.537000 HNSCC(10;0.0054) 21 11 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66081782 66081782 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:66081782G>A ENST00000349533.6 + 15 2272 c.2087G>A c.(2086-2088)gGa>gAa p.G696E LEPR_ENST00000371058.1_Missense_Mutation_p.G696E|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Missense_Mutation_p.G696E|LEPR_ENST00000371060.3_Missense_Mutation_p.G696E|LEPR_ENST00000344610.8_Missense_Mutation_p.G696E NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 696 Fibronectin type-III 3. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GAAGATGTGGGAAATCACACG 0.398000 31 29 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29451825 29451825 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:29451825C>T ENST00000389048.3 - 16 3646 c.2740G>A c.(2740-2742)Ggg>Agg p.G914R ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 914 Gly-rich. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GTCTCCCACCCCCACTTCTTC 0.577000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 24 11 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125035755 125035755 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:125035755C>T ENST00000522917.1 + 18 2411 c.2205C>T c.(2203-2205)atC>atT p.I735I FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Silent_p.I735I NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 735 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) ATGCCCGCATCGCCTCCAAAG 0.517000 45 63 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133252035 133252035 + Missense_Mutation SNP T T C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:133252035T>C ENST00000320574.5 - 12 1218 c.1175A>G c.(1174-1176)gAc>gGc p.D392G POLE_ENST00000535270.1_Missense_Mutation_p.D365G NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 392 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|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 chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CCCCTGGCTGTCCTTCTGGAA 0.612000 DNA polymerases (catalytic subunits) 34 47 0 0 1 0 0 ERF 2077 broad.mit.edu 37 19 42753108 42753108 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:42753108G>A ENST00000222329.4 - 4 1313 c.1156C>T c.(1156-1158)Cgc>Tgc p.R386C ERF_ENST00000440177.2_Missense_Mutation_p.R311C|AC006486.9_ENST00000594664.1_Intron NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 386 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) CGCTGCCGGCGTCCGAGTGGG 0.687000 27 132 0 0 1 0 0 COX10 1352 broad.mit.edu 37 17 14110524 14110524 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:14110524C>T ENST00000261643.3 + 7 1403 c.1326C>T c.(1324-1326)ccC>ccT p.P442P COX10_ENST00000536205.1_Silent_p.P250P|COX10_ENST00000537334.1_Silent_p.P225P NM_001303.3 NP_001294.2 Q12887 COX10_HUMAN cytochrome c oxidase assembly homolog 10 (yeast) 442 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) GGCCCCCTCCCAGCTGAGAGC 0.632000 10 15 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248344193 248344193 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:248344193G>A ENST00000359682.2 + 1 906 c.906G>A c.(904-906)atG>atA p.M302I NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 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) GAGCATTCATGAAGATCTTAG 0.423000 147 95 0 0 1 0 0 LINC00477 144360 broad.mit.edu 37 12 24736484 24736484 + RNA SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:24736484G>A ENST00000483544.1 - 0 618 NR_029451.2 CATGCCTCTGGGGTGAAAATC 0.527000 21 22 0 0 1 0 0 GALNT18 374378 broad.mit.edu 37 11 11398885 11398885 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:11398885C>T ENST00000227756.4 - 5 1232 c.821G>A c.(820-822)cGg>cAg p.R274Q NM_198516.2 NP_940918.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18 CGAGATGATCCGCTTCCGGTT 0.532000 26 27 0 0 1 0 0 ASPG 374569 broad.mit.edu 37 14 104570712 104570712 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr14:104570712C>T ENST00000551177.1 + 8 917 c.825C>T c.(823-825)acC>acT p.T275T ASPG_ENST00000546892.2_Silent_p.T275T|ASPG_ENST00000455920.2_Silent_p.T275T NM_001080464.2 NP_001073933.2 Q86U10 LPP60_HUMAN asparaginase homolog (S. cerevisiae) 275 Asparaginase. lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 11 ACGGACCCACCAAGCCCGACC 0.667000 15 25 0 0 1 0 0 GRIA3 2892 broad.mit.edu 37 X 122460008 122460008 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chrX:122460008G>A ENST00000264357.5 + 4 932 c.640G>A c.(640-642)Gaa>Aaa p.E214K GRIA3_ENST00000371256.5_Missense_Mutation_p.E214K|GRIA3_ENST00000371251.1_Missense_Mutation_p.E214K|GRIA3_ENST00000542149.1_Missense_Mutation_p.E214K|GRIA3_ENST00000541091.1_Missense_Mutation_p.E198K NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 214 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) CAGGAGGCAGGAAAAGCGATA 0.423000 45 5 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215818782 215818782 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:215818782G>A ENST00000272895.7 - 44 6662 c.6443C>T c.(6442-6444)cCa>cTa p.P2148L AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.P1830L NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 2148 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) ACAGAATTGTGGGAAAATCAG 0.348000 5 67 0 0 1 0 0 PITX1 5307 broad.mit.edu 37 5 134364803 134364803 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:134364803G>A ENST00000265340.7 - 3 1027 c.611C>T c.(610-612)tCc>tTc p.S204F PITX1_ENST00000506438.1_Missense_Mutation_p.S204F NM_002653.4 NP_002644.4 P78337 PITX1_HUMAN paired-like homeodomain 1 204 Interacts with PIT-1 (By similarity). nucleolus sequence-specific DNA binding central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) READ - Rectum adenocarcinoma(2;0.0607) CGGGCTCATGGAGTTGAAGAA 0.637000 34 49 0 0 1 0 0 UNC93A 54346 broad.mit.edu 37 6 167728728 167728728 + Missense_Mutation SNP C C T rs142367645 byFrequency TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:167728728C>T ENST00000230256.3 + 8 1337 c.1162C>T c.(1162-1164)Cgc>Tgc p.R388C UNC93A_ENST00000366829.2_Missense_Mutation_p.R346C NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 388 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) CGCCAATTACCGCCTGTGGGA 0.582000 74 30 0 0 1 0 0 ZNF793 390927 broad.mit.edu 37 19 38023375 38023375 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:38023375G>A ENST00000445217.1 + 2 168 c.133G>A c.(133-135)Gtc>Atc p.V45I ZNF793_ENST00000587143.1_Missense_Mutation_p.V45I|ZNF793_ENST00000589319.1_Missense_Mutation_p.V45I|ZNF793_ENST00000587986.1_Missense_Mutation_p.V45I|ZNF793_ENST00000588578.1_Missense_Mutation_p.V45I|ZNF793_ENST00000542455.1_Missense_Mutation_p.V45I Q6ZN11 ZN793_HUMAN zinc finger protein 793 45 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TAGCAACCTCGTCTCAGTGGG 0.507000 10 25 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104449125 104449125 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:104449125G>A ENST00000361820.3 - 2 1657 c.1057C>T c.(1057-1059)Cgt>Tgt p.R353C NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 353 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) AGCACCCAACGAAGTTCAGGG 0.512000 13 20 0 0 1 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55027393 55027393 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr18:55027393G>A ENST00000324000.3 + 4 3062 c.1028G>A c.(1027-1029)gGa>gAa p.G343E NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 343 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) GACAAAAAAGGAACCAAATTT 0.478000 16 24 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36212230 36212230 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:36212230C>T ENST00000303965.4 - 6 1758 c.1269G>A c.(1267-1269)caG>caA p.Q423Q NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 423 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 TTCTTAAACTCTGAAAGCATT 0.358000 39 40 0 0 1 0 0 GIGYF2 26058 broad.mit.edu 37 2 233620964 233620964 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:233620964C>T ENST00000373566.3 + 6 496 c.299C>T c.(298-300)gCt>gTt p.A100V GIGYF2_ENST00000373563.4_Missense_Mutation_p.A100V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.A100V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.A100V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.A100V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.A100V Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 100 cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) AATAGTGCTGCTGTCCTGCGA 0.398000 14 18 0 0 1 0 0 PSMG3 84262 broad.mit.edu 37 7 1607478 1607478 + Missense_Mutation SNP G G C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:1607478G>C ENST00000288607.2 - 2 878 c.225C>G c.(223-225)atC>atG p.I75M PSMG3_ENST00000252329.3_Missense_Mutation_p.I75M|PSMG3_ENST00000404674.3_Missense_Mutation_p.I75M NM_032302.3 NP_115678.1 Q9BT73 PSMG3_HUMAN proteasome (prosome, macropain) assembly chaperone 3 75 lung(2) 2 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15) CAAAGACATGGATGAGAGGCT 0.483000 11 38 0 0 1 0 0 GATM 2628 broad.mit.edu 37 15 45656192 45656192 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr15:45656192G>A ENST00000396659.3 - 8 1404 c.1065C>T c.(1063-1065)tcC>tcT p.S355S GATM_ENST00000558336.1_Silent_p.S355S NM_001482.2 NP_001473.1 P50440 GATM_HUMAN glycine amidinotransferase (L-arginine:glycine amidinotransferase) 355 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 15 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) AAAGCCATTTGGATGACATCC 0.353000 18 31 0 0 1 0 0 SAG 6295 broad.mit.edu 37 2 234238158 234238158 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:234238158C>T ENST00000409110.1 + 9 898 c.668C>T c.(667-669)cCc>cTc p.P223L SAG_ENST00000449594.2_Missense_Mutation_p.P89L NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 223 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) CATGGGGAGCCCATCCCTGTG 0.448000 12 12 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41533698 41533698 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr22:41533698C>T ENST00000263253.7 + 8 2883 c.1664C>T c.(1663-1665)cCt>cTt p.P555L NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 555 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 TCCCTGGGTCCTATGCCAACA 0.438000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 30 32 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117232082 117232082 + Missense_Mutation SNP G G A rs121908777 TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:117232082G>A ENST00000003084.6 + 14 1993 c.1861G>A c.(1861-1863)Gaa>Aaa p.E621K CFTR_ENST00000454343.1_Missense_Mutation_p.E560K NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 621 ABC transporter 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) AATTTTGCATGAAGGTAGCAG 0.343000 Cystic Fibrosis 25 114 0 0 1 0 0 OR13C9 286362 broad.mit.edu 37 9 107379976 107379976 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:107379976C>T ENST00000259362.1 - 1 509 c.510G>A c.(508-510)agG>agA p.R170R NM_001001956.1 NP_001001956.1 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, member 9 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R170R(1) breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 TGACATTCTTCCTGCAGAAAG 0.448000 32 43 0 0 1 0 0 ARRB2 409 broad.mit.edu 37 17 4623873 4623873 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:4623873C>T ENST00000346341.2 + 13 1153 c.1065C>T c.(1063-1065)gtC>gtT p.V355V ARRB2_ENST00000412477.3_Intron|ARRB2_ENST00000269260.2_Intron|ARRB2_ENST00000571206.1_Intron|ARRB2_ENST00000574954.1_Intron|ARRB2_ENST00000575877.1_Intron|ARRB2_ENST00000381488.6_Intron|ARRB2_ENST00000572457.1_Intron NM_001257331.1|NM_199004.1 NP_001244260.1|NP_945355.1 P32121 ARRB2_HUMAN arrestin, beta 2 360 Interaction with TRAF6. cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 CTCTTCCCGTCCCCCCAGCCG 0.592000 18 11 0 0 1 0 0 TXNRD1 7296 broad.mit.edu 37 12 104645310 104645310 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:104645310G>A ENST00000525566.1 + 2 121 c.97G>A c.(97-99)Gat>Aat p.D33N TXNRD1_ENST00000429002.2_Missense_Mutation_p.D33N NM_001093771.2 NP_001087240.1 Q16881 TRXR1_HUMAN thioredoxin reductase 1 33 cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 16 TCTAGCTAAAGATCATCACCC 0.418000 8 19 0 0 1 0 0 ZNF566 84924 broad.mit.edu 37 19 36940769 36940769 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:36940769C>T ENST00000454319.1 - 5 504 c.370G>A c.(370-372)Gaa>Aaa p.E124K ZNF566_ENST00000392170.2_Missense_Mutation_p.E124K|ZNF566_ENST00000434377.2_Missense_Mutation_p.E123K|ZNF566_ENST00000424129.2_Missense_Mutation_p.E123K|ZNF566_ENST00000493391.1_Missense_Mutation_p.E19K NM_001145343.1|NM_001145344.1|NM_001145345.1 NP_001138815.1|NP_001138816.1|NP_001138817.1 Q969W8 ZN566_HUMAN zinc finger protein 566 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) CGATTACATTCCCAATCATCT 0.403000 75 84 0 0 1 0 0 PPARG 5468 broad.mit.edu 37 3 12458381 12458381 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr3:12458381G>A ENST00000397026.2 + 8 1315 c.932G>A c.(931-933)gGt>gAt p.G311D PPARG_ENST00000397012.2_Missense_Mutation_p.G305D|PPARG_ENST00000397015.2_Missense_Mutation_p.G305D|PPARG_ENST00000397010.2_Missense_Mutation_p.G305D|PPARG_ENST00000309576.6_Missense_Mutation_p.G305D|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000287820.6_Missense_Mutation_p.G333D|PPARG_ENST00000539812.1_Intron P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 333 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) AGCATTCCTGGTTTTGTAAAT 0.483000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 26 8 0 0 1 0 0 SMAP2 64744 broad.mit.edu 37 1 40881966 40881966 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:40881966C>T ENST00000539317.1 + 8 753 c.560C>T c.(559-561)tCc>tTc p.S187F NM_001198980.1 NP_001185909.1 Q8WU79 SMAP2_HUMAN small ArfGAP2 267 Interaction with clathrin heavy chains (By similarity). regulation of ARF GTPase activity cytoplasm|nucleus ARF GTPase activator activity|zinc ion binding central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.04e-17) TCTAAAGACTCCATTCTTTCA 0.498000 50 76 0 0 1 0 0 SLC43A3 29015 broad.mit.edu 37 11 57182141 57182141 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:57182141C>T ENST00000395123.2 - 11 1311 c.1007G>A c.(1006-1008)gGc>gAc p.G336D SLC43A3_ENST00000533524.1_Missense_Mutation_p.G349D|SLC43A3_ENST00000529554.1_Missense_Mutation_p.G336D|SLC43A3_ENST00000395124.1_Missense_Mutation_p.G336D|SLC43A3_ENST00000352187.1_Missense_Mutation_p.G336D NM_001278201.1|NM_014096.2 NP_001265130.1|NP_054815.2 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 336 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 CATGAGCAGGCCATTCCAGGG 0.547000 78 114 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49409343 49409343 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr10:49409343G>A ENST00000374201.3 - 15 2184 c.1882C>T c.(1882-1884)Ctg>Ttg p.L628L FRMPD2_ENST00000305531.3_Silent_p.L603L|FRMPD2_ENST00000407470.4_Silent_p.L596L NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 628 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) CAGAGGTCCAGTAAGTATTTA 0.453000 41 6 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100832315 100832315 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:100832315C>T ENST00000358544.2 + 49 9145 c.9034C>T c.(9034-9036)Cct>Tct p.P3012S VPS13B_ENST00000357162.2_Missense_Mutation_p.P2987S|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3012 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TCTACAGGTTCCTGCTGGCAA 0.348000 29 39 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41385231 41385231 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr21:41385231G>A ENST00000400454.1 - 33 6246 c.5769C>T c.(5767-5769)agC>agT p.S1923S NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1923 HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CTTGTCCTAAGCTCAGGTCCC 0.567000 21 41 0 0 1 0 0 AOC4P 90586 broad.mit.edu 37 17 41019620 41019620 + RNA SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:41019620C>T ENST00000585538.1 + 0 459 NR_002773.1 GGCTGCAGCCCTGGCTCACTT 0.667000 28 38 0 0 1 0 0 POP7 10248 broad.mit.edu 37 7 100304533 100304533 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:100304533C>T ENST00000303151.4 + 2 342 c.80C>T c.(79-81)cCc>cTc p.P27L NM_005837.2 NP_005828.2 O75817 POP7_HUMAN processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae) 27 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity endometrium(2)|kidney(1)|ovary(1) 4 Lung NSC(181;0.041)|all_lung(186;0.0581) AAAAGGCTTCCCAGCCGCCTG 0.607000 50 147 0 0 1 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:29977342A>T ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 4 66 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93836183 93836183 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:93836183G>A ENST00000315765.9 + 15 2687 c.2679G>A c.(2677-2679)gtG>gtA p.V893V NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 893 Plastocyanin-like 5. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TAAACTTTGTGAAGGTAAGGT 0.373000 15 19 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12502142 12502142 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:12502142C>T ENST00000419318.1 - 4 1723 c.974G>A c.(973-975)aGa>aAa p.R325K ZNF799_ENST00000430385.3_Missense_Mutation_p.R357K|CTD-3105H18.14_ENST00000435033.1_Intron Q96GE5 ZN799_HUMAN zinc finger protein 799 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 AGTGTGAGTTCTTTCATGACT 0.413000 38 60 0 0 1 0 0 NTSR1 4923 broad.mit.edu 37 20 61391531 61391531 + Missense_Mutation SNP G G C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr20:61391531G>C ENST00000370501.3 + 4 1540 c.1169G>C c.(1168-1170)aGg>aCg p.R390T NTSR1_ENST00000482259.1_3'UTR NM_002531.2 NP_002522.2 P30989 NTR1_HUMAN neurotensin receptor 1 (high affinity) 390 endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3) 27 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) CGGCGCAGGAGGAAGAGGCCA 0.642000 41 50 0 0 1 0 0 EVC2 132884 broad.mit.edu 37 4 5642528 5642528 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:5642528G>A ENST00000310917.2 - 10 1674 c.943C>T c.(943-945)Ctg>Ttg p.L315L EVC2_ENST00000344938.1_Silent_p.L395L|EVC2_ENST00000344408.5_Silent_p.L395L NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 395 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 caagCCTCCAGATCTGCATCT 0.433000 33 40 0 0 1 0 0 GPC6 10082 broad.mit.edu 37 13 94482746 94482746 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr13:94482746C>T ENST00000377047.4 + 3 1274 c.659C>T c.(658-660)aCc>aTc p.T220I GPC6-AS2_ENST00000445540.1_RNA NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 220 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) GCTGCCAGGACCTTTGTCCAG 0.488000 19 23 0 0 1 0 0 DAG1 1605 broad.mit.edu 37 3 49568863 49568863 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr3:49568863C>T ENST00000545947.1 + 6 1641 c.919C>T c.(919-921)Ccc>Tcc p.P307S DAG1_ENST00000538711.1_Missense_Mutation_p.P307S|DAG1_ENST00000541308.1_Missense_Mutation_p.P307S|DAG1_ENST00000539901.1_Missense_Mutation_p.P307S|DAG1_ENST00000515359.2_Missense_Mutation_p.P307S|DAG1_ENST00000308775.2_Missense_Mutation_p.P307S NM_001177634.2 NP_001171105.1 Q14118 DAG1_HUMAN dystroglycan 1 (dystrophin-associated glycoprotein 1) 307 Required for laminin recognition. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GCCCCCTCTTCCCAAACGCGT 0.617000 35 51 0 0 1 0 0 C7orf55-LUC7L2 100996928 broad.mit.edu 37 7 139092031 139092031 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:139092031G>A ENST00000354926.4 + 6 976 c.622G>A c.(622-624)Gat>Aat p.D208N LUC7L2_ENST00000541515.3_Missense_Mutation_p.D274N|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.D205N|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.D207N NM_016019.3 NP_057103.2 p.D208N(1) ACGACTGGCTGATCATTTTGG 0.398000 86 21 0 0 1 0 0 FAM183B 340286 broad.mit.edu 37 7 38725520 38725520 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:38725520C>T ENST00000409072.3 - 2 1020 c.86G>A c.(85-87)cGa>cAa p.R29Q family with sequence similarity 183, member B p.R29Q(4) endometrium(1)|lung(7) 8 TTTCTGGGTTCGTAACTCTTT 0.542000 31 47 0 0 1 0 0 AVIL 10677 broad.mit.edu 37 12 58196065 58196065 + Missense_Mutation SNP G G T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:58196065G>T ENST00000537081.1 - 16 2007 c.2008C>A c.(2008-2010)Cag>Aag p.Q670K TSFM_ENST00000550559.1_Intron|TSFM_ENST00000543727.1_Intron|TSFM_ENST00000548851.1_Intron|AVIL_ENST00000257861.3_Missense_Mutation_p.Q677K O75366 AVIL_HUMAN advillin 677 Core (By similarity). actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6) 32 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) TGCAGGTACTGCTGTGCTGTG 0.537000 9 8 1.58986e-06 1.59363e-06 1 1 0 IGHV1-24 28467 broad.mit.edu 37 14 106733339 106733339 + RNA SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr14:106733339G>A ENST00000390610.2 - 0 215 CCCAGTGCATGGATAATTCAG 0.547000 77 229 0 0 1 0 0 GFI1B 8328 broad.mit.edu 37 9 135863856 135863856 + Splice_Site SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:135863856G>A ENST00000339463.3 + 8 1329 c.e8+1 GFI1B_ENST00000372123.1_Splice_Site|GFI1B_ENST00000534944.1_Splice_Site|GFI1B_ENST00000372122.1_Splice_Site|GFI1B_ENST00000372124.1_Splice_Site|GFI1B_ENST00000450530.1_Splice_Site Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription repressor cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) GTGCAACAAGGTGGGCAGCGG 0.632000 11 18 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98823975 98823975 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr10:98823975G>A ENST00000266058.4 - 7 824 c.579C>T c.(577-579)atC>atT p.I193I ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Silent_p.I193I|SLIT1_ENST00000371070.4_Silent_p.I193I NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 193 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GGATGGTGGTGATATTGTTGT 0.572000 11 2 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62371063 62371063 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:62371063G>A ENST00000519846.1 + 6 1411 c.939G>A c.(937-939)tcG>tcA p.S313S CLVS1_ENST00000518592.1_Silent_p.S34S|CLVS1_ENST00000325897.4_Silent_p.S313S Q8IUQ0 CLVS1_HUMAN clavesin 1 313 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 ATACGTCCTCGAATCTGGAGA 0.493000 13 13 0 0 1 0 0 SUV420H2 84787 broad.mit.edu 37 19 55858523 55858523 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:55858523C>T ENST00000255613.3 + 9 1343 c.1095C>T c.(1093-1095)caC>caT p.H365H NM_032701.3 NP_116090.2 Q86Y97 SV422_HUMAN suppressor of variegation 4-20 homolog 2 (Drosophila) 365 Required for heterochromatin localization (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2) 4 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) GTGGCCCCCACTGCCGCCTGC 0.781000 3 0 0 0 1 0 0 ATRIP 84126 broad.mit.edu 37 3 48491531 48491531 + Silent SNP C C T rs150341628 byFrequency TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr3:48491531C>T ENST00000412052.1 + 2 519 c.57C>T c.(55-57)ttC>ttT p.F19F ATRIP_ENST00000320211.3_Silent_p.F112F|ATRIP_ENST00000346691.4_Silent_p.F112F|ATRIP_ENST00000357105.6_5'UTR NM_001271023.1 NP_001257952.1 Q8WXE1 ATRIP_HUMAN ATR interacting protein 112 DNA damage checkpoint|DNA repair|DNA replication nucleoplasm protein binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1) 22 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AAGATAATTTCGAATTAGAGG 0.318000 Other conserved DNA damage response genes 45 11 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175896912 175896912 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:175896912C>T ENST00000359240.3 + 5 906 c.236C>T c.(235-237)cCt>cTt p.P79L ADAM29_ENST00000514159.1_Missense_Mutation_p.P79L|ADAM29_ENST00000404450.4_Missense_Mutation_p.P79L|ADAM29_ENST00000445694.1_Missense_Mutation_p.P79L NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 79 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) AAACACCTCCCTGTGTTCACC 0.483000 20 18 0 0 1 0 0 ZNF567 163081 broad.mit.edu 37 19 37203746 37203746 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:37203746C>T ENST00000585696.1 + 2 1337 c.107C>T c.(106-108)tCa>tTa p.S36L ZNF567_ENST00000392163.2_Missense_Mutation_p.S36L|ZNF567_ENST00000588311.1_Missense_Mutation_p.S36L|ZNF567_ENST00000536254.2_Missense_Mutation_p.S67L|ZNF567_ENST00000360729.4_Missense_Mutation_p.S36L Q8N184 ZN567_HUMAN zinc finger protein 567 67 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) CCATGGACATCATTTGCAGGT 0.443000 8 22 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155295184 155295184 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:155295184C>T ENST00000392825.3 + 12 2043 c.1476C>T c.(1474-1476)atC>atT p.I492I AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Silent_p.I492I NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 492 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 GACCTGTAATCATGTTAAAAT 0.343000 32 33 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79386016 79386016 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:79386016G>A ENST00000370742.3 - 10 1376 c.1313C>T c.(1312-1314)tCa>tTa p.S438L NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 438 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) ACAAATCAGTGAAATAATTAT 0.303000 43 31 0 0 1 0 0 SERPINA7 6906 broad.mit.edu 37 X 105280808 105280808 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chrX:105280808G>A ENST00000327674.4 - 1 577 c.242C>T c.(241-243)tCc>tTc p.S81F SERPINA7_ENST00000372563.1_Missense_Mutation_p.S81F P05543 THBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 81 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) GGCCCCAAAGGAAAGCATAAC 0.498000 25 4 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106960899 106960899 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr10:106960899G>A ENST00000369701.3 + 16 2376 c.2149G>A c.(2149-2151)Gaa>Aaa p.E717K SORCS3_ENST00000369699.4_Missense_Mutation_p.E3K NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 717 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TGTCATGGGAGAAAGGAAAAT 0.458000 13 2 0 0 1 0 0 CBX8 57332 broad.mit.edu 37 17 77768504 77768504 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:77768504G>A ENST00000269385.4 - 5 1217 c.1100C>T c.(1099-1101)aCc>aTc p.T367I NM_020649.2 NP_065700.1 Q9HC52 CBX8_HUMAN chromobox homolog 8 367 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex methylated histone residue binding breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1) 14 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) AAAGTTTGAGGTCACGTCCGT 0.542000 60 70 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123742403 123742403 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:123742403G>A ENST00000223642.1 - 28 3645 c.3616C>T c.(3616-3618)Cgt>Tgt p.R1206C NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 1206 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) ACAATTGAACGAAACTGTGGG 0.408000 22 33 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40339314 40339314 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:40339314G>A ENST00000310169.2 + 3 437 c.298G>A c.(298-300)Gat>Aat p.D100N CHRNA9_ENST00000502377.1_3'UTR NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 100 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) AGATCAGTACGATGGCCTAGA 0.483000 18 21 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54754843 54754843 + Missense_Mutation SNP A A G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:54754843A>G ENST00000450632.1 - 13 1869 c.1792T>C c.(1792-1794)Tcc>Ccc p.S598P LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 423 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTGGGGAGGCCTGGGGG 0.607000 3 38 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62298168 62298168 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:62298168G>A ENST00000378024.4 - 5 3995 c.3721C>T c.(3721-3723)Cca>Tca p.P1241S AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1241 nervous system development nucleus protein binding p.P1241T(1) 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) TCCACATCTGGGGCATCAATG 0.493000 119 191 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21802475 21802475 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:21802475G>A ENST00000382254.1 - 10 2143 c.1057C>T c.(1057-1059)Ctt>Ttt p.L353F CDH12_ENST00000522262.1_Missense_Mutation_p.L313F|CDH12_ENST00000504376.2_Missense_Mutation_p.L353F|CDH12_ENST00000521384.1_5'UTR NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 353 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TCAAGGTGAAGGTTGGAAGCC 0.438000 HNSCC(59;0.17) 17 31 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90450000 90450000 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:90450000G>A ENST00000369393.3 - 32 4661 c.4546C>T c.(4546-4548)Cgt>Tgt p.R1516C MDN1_ENST00000428876.1_Missense_Mutation_p.R1516C Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1516 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding p.R1516C(1) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GCTAGAATACGAAATTTTTTC 0.408000 21 7 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181727100 181727100 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:181727100C>T ENST00000526775.1 + 30 4455 c.4290C>T c.(4288-4290)ttC>ttT p.F1430F CACNA1E_ENST00000367567.4_Silent_p.F1056F|CACNA1E_ENST00000367570.1_Silent_p.F1449F|CACNA1E_ENST00000357570.5_Silent_p.F1400F|CACNA1E_ENST00000360108.3_Silent_p.F1430F|CACNA1E_ENST00000358338.5_Silent_p.F1381F|CACNA1E_ENST00000367573.2_Silent_p.F1449F NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1449 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.F1449F(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 GCATCGACTTCGCCATCAGCG 0.522000 77 52 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18062612 18062612 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:18062612C>T ENST00000205890.5 + 54 9518 c.9180C>T c.(9178-9180)atC>atT p.I3060I MYO15A_ENST00000418233.3_Silent_p.I324I NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 3060 MyTH4 2.|Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) AATCCCTCATCGAACTCAGCG 0.592000 16 23 0 0 1 0 0 TLR10 81793 broad.mit.edu 37 4 38776432 38776432 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:38776432G>A ENST00000308973.4 - 4 1385 c.780C>T c.(778-780)ttC>ttT p.F260F TLR10_ENST00000508334.1_Silent_p.F260F|TLR10_ENST00000506111.1_Silent_p.F260F|TLR10_ENST00000361424.2_Silent_p.F260F NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 260 inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 GTAAGATAAGGAAAAGGTCGT 0.343000 14 21 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50870760 50870760 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr10:50870760G>A ENST00000395562.2 + 15 2132 c.1663G>A c.(1663-1665)Gag>Aag p.E555K CHAT_ENST00000455728.2_Missense_Mutation_p.E519K|CHAT_ENST00000337653.2_Missense_Mutation_p.E637K|CHAT_ENST00000395559.2_Missense_Mutation_p.E519K|CHAT_ENST00000339797.1_Missense_Mutation_p.E519K|CHAT_ENST00000351556.3_Missense_Mutation_p.E519K NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 637 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) CATGTGCAAGGAGCTGCCCGA 0.577000 55 7 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241722490 241722490 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:241722490C>T ENST00000498729.2 - 9 1081 c.835G>A c.(835-837)Ggc>Agc p.G279S KIF1A_ENST00000320389.7_Missense_Mutation_p.G279S NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 279 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) ATGACCTTGCCCAGGGTGGTC 0.652000 36 47 0 0 1 0 0 ALDH1B1 219 broad.mit.edu 37 9 38396604 38396604 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:38396604G>A ENST00000377698.3 + 2 1012 c.859G>A c.(859-861)Ggt>Agt p.G287S NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 287 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) CCTGGAGCTGGGTGGTAAGAG 0.592000 26 34 0 0 1 0 0 C1QTNF2 114898 broad.mit.edu 37 5 159776621 159776621 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:159776621G>A ENST00000393975.3 - 3 550 c.547C>T c.(547-549)Cca>Tca p.P183S NM_031908.4 NP_114114.2 Q9BXJ5 C1QT2_HUMAN C1q and tumor necrosis factor related protein 2 138 C1q. collagen breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 13 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGGGGCCTGGGAGGCCTGGC 0.657000 47 75 0 0 1 0 0 PDCD1 5133 broad.mit.edu 37 2 242793294 242793294 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:242793294G>A ENST00000334409.5 - 5 852 c.783C>T c.(781-783)tcC>tcT p.S261S NM_005018.2 NP_005009.2 Q15116 PDCD1_HUMAN programmed cell death 1 261 apoptosis|humoral immune response|multicellular organismal development|T cell costimulation integral to membrane protein tyrosine phosphatase activity|signal transducer activity endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1) 8 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219) TGCGGGCGGGGGATGAGGTGC 0.662000 20 34 0 0 1 0 0 INHBE 83729 broad.mit.edu 37 12 57849580 57849580 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:57849580G>A ENST00000266646.2 + 1 477 c.261G>A c.(259-261)ggG>ggA p.G87G INHBE_ENST00000551553.1_Intron NM_031479.3 NP_113667.1 P58166 INHBE_HUMAN inhibin, beta E 87 growth extracellular region growth factor activity|hormone activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 15 TGGCTCCAGGGAATGGGGAGG 0.602000 OREG0021944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 19 0 0 1 0 0 TRIM48 79097 broad.mit.edu 37 11 55032387 55032387 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:55032387C>T ENST00000417545.2 + 2 142 c.56C>T c.(55-57)tCt>tTt p.S19F NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 3 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AACATGAATTCTGGAATCTCG 0.463000 118 119 0 0 1 0 0 IKBKAP 8518 broad.mit.edu 37 9 111679871 111679871 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:111679871G>A ENST00000374647.5 - 9 1127 c.820C>T c.(820-822)Ctt>Ttt p.L274F IKBKAP_ENST00000537196.1_5'UTR NM_003640.3 NP_003631.2 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 274 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TGTCCATGAAGGAGTCCATTT 0.408000 26 36 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80732954 80732954 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:80732954C>T ENST00000458043.2 + 42 4939 c.4933C>T c.(4933-4935)Cta>Tta p.L1645L OTOGL_ENST00000547103.1_Silent_p.L1633L NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TCCAGCTGGACTAATCATAAA 0.423000 63 74 0 0 1 0 0 FAM27L 284123 broad.mit.edu 37 17 21825562 21825562 + RNA SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:21825562G>A ENST00000426869.3 + 0 266 NR_028336.1 family with sequence similarity 27-like central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) aggcctgcccggagggtgttc 0.632000 40 43 0 0 1 0 0 OR2T2 401992 broad.mit.edu 37 1 248616785 248616785 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:248616785G>A ENST00000342927.3 + 1 709 c.687G>A c.(685-687)atG>atA p.M229I NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCCACAGGATGAACTCTGCTG 0.547000 21 47 0 0 1 0 0 MYO18A 399687 broad.mit.edu 37 17 27421956 27421956 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:27421956C>T ENST00000527372.1 - 29 4687 c.4507G>A c.(4507-4509)Gag>Aag p.E1503K MYO18A_ENST00000533112.1_Missense_Mutation_p.E1503K|MYO18A_ENST00000354329.4_Missense_Mutation_p.E1503K|MYO18A_ENST00000531253.1_Missense_Mutation_p.E1503K NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 1503 anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) CTACCCACCTCTAGTTGCTGC 0.617000 12 15 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178408731 178408731 + Missense_Mutation SNP C C T rs145110689 TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:178408731C>T ENST00000231188.5 - 10 2739 c.2561G>A c.(2560-2562)cGa>cAa p.R854Q GRM6_ENST00000517717.1_Missense_Mutation_p.R854Q|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 854 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GCTCCGCTTTCGCTTCTGCAC 0.612000 51 63 0 0 1 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711613 155711613 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:155711613G>A ENST00000295101.2 + 3 1771 c.1294G>A c.(1294-1296)Gac>Aac p.D432N NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 432 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) CAGCTTGGGAGACTTGCCCAT 0.413000 45 50 0 0 1 0 0 CCDC65 85478 broad.mit.edu 37 12 49308219 49308219 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:49308219G>A ENST00000266984.5 + 3 560 c.333G>A c.(331-333)gaG>gaA p.E111E CCDC65_ENST00000320516.4_Silent_p.E111E|ARF3_ENST00000398092.4_Intron Q8IXS2 CCD65_HUMAN coiled-coil domain containing 65 111 breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2) 15 AAGCCGAGGAGCAGTACGCCC 0.502000 26 39 0 0 1 0 0 ZNF181 339318 broad.mit.edu 37 19 35231525 35231525 + Nonsense_Mutation SNP C C G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:35231525C>G ENST00000392232.3 + 6 539 c.371C>G c.(370-372)tCa>tGa p.S124* ZNF181_ENST00000459757.1_Nonsense_Mutation_p.S79*|ZNF181_ENST00000492450.1_Nonsense_Mutation_p.S80* Q2M3W8 ZN181_HUMAN zinc finger protein 181 80 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) GATTGGGAATCAAGATGGGAA 0.279000 34 69 0 0 1 0 0 SCARF1 8578 broad.mit.edu 37 17 1538237 1538237 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:1538237C>T ENST00000263071.4 - 11 2357 c.2308G>A c.(2308-2310)Gca>Aca p.A770T SCARF1_ENST00000348987.3_Missense_Mutation_p.A684T|SCARF1_ENST00000571272.1_3'UTR NM_003693.2|NM_145350.1 NP_003684.2|NP_663325.1 Q14162 SREC_HUMAN scavenger receptor class F, member 1 770 Gly-rich. cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GGTCTGACTGCCATAGGCCCT 0.652000 17 14 0 0 1 0 0 KRT82 3888 broad.mit.edu 37 12 52788920 52788920 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:52788920G>A ENST00000257974.2 - 9 1458 c.1381C>T c.(1381-1383)Ctc>Ttc p.L461F RP3-416H24.4_ENST00000547174.1_RNA NM_033033.3 NP_149022.3 Q9NSB4 KRT82_HUMAN keratin 82 461 Tail. keratin filament protein binding|structural constituent of epidermis endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) CCAGTGCTGAGGACAGGCGTG 0.642000 32 23 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 6 168 0 0 1 0 0 C19orf26 255057 broad.mit.edu 37 19 1235998 1235998 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:1235998G>A ENST00000590083.1 - 2 394 c.102C>T c.(100-102)ccC>ccT p.P34P C19orf26_ENST00000215376.6_Silent_p.P28P|C19orf26_ENST00000382477.2_Silent_p.P28P Q8N350 DOS_HUMAN chromosome 19 open reading frame 26 28 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 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)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACCCACCGTGGGGCGTCCAG 0.692000 HNSCC(14;0.022) 27 29 0 0 1 0 0 OR52M1 119772 broad.mit.edu 37 11 4566790 4566790 + Missense_Mutation SNP C C T rs61751908 byFrequency TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:4566790C>T ENST00000360213.1 + 1 370 c.370C>T c.(370-372)Cgc>Tgc p.R124C NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GGCTTTTGATCGCTACGTGGC 0.527000 32 41 0 0 1 0 0 OR52K2 119774 broad.mit.edu 37 11 4471266 4471266 + Nonsense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:4471266C>T ENST00000325719.4 + 1 742 c.697C>T c.(697-699)Cag>Tag p.Q233* NM_001005172.2 NP_001005172.2 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, member 2 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q233*(1) NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTTGCCTCTCAGGAGGCCCG 0.478000 81 91 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176526136 176526136 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:176526136C>T ENST00000367662.3 + 2 1842 c.678C>T c.(676-678)tcC>tcT p.S226S PAPPA2_ENST00000367661.3_Silent_p.S226S NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 226 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 CCAAGCATTCCCTTAAACACA 0.547000 74 39 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77631427 77631427 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:77631427C>T ENST00000296043.6 + 3 1395 c.442C>T c.(442-444)Cgg>Tgg p.R148W SHROOM3_ENST00000473602.1_3'UTR NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 148 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) GGTTAAACTTCGGCTGAAGCA 0.577000 19 21 0 0 1 0 0 MYBL2 4605 broad.mit.edu 37 20 42328426 42328426 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr20:42328426C>T ENST00000217026.4 + 7 820 c.693C>T c.(691-693)gtC>gtT p.V231V MYBL2_ENST00000396863.4_Silent_p.V207V NM_002466.2 NP_002457.1 P10244 MYBB_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 2 231 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) GGCCCTCCGTCCCTCCTACCA 0.493000 15 18 0 0 1 0 0 PDCD1 5133 broad.mit.edu 37 2 242793418 242793418 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:242793418G>A ENST00000334409.5 - 5 728 c.659C>T c.(658-660)tCt>tTt p.S220F NM_005018.2 NP_005009.2 Q15116 PDCD1_HUMAN programmed cell death 1 220 apoptosis|humoral immune response|multicellular organismal development|T cell costimulation integral to membrane protein tyrosine phosphatase activity|signal transducer activity endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1) 8 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219) ATAGTCCACAGAGAACACAGG 0.632000 21 22 0 0 1 0 0 C1QTNF3 114899 broad.mit.edu 37 5 34042970 34042970 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:34042970G>A ENST00000382065.3 - 1 967 c.261C>T c.(259-261)ccC>ccT p.P87P C1QTNF3_ENST00000231338.7_Intron NM_181435.5 NP_852100.3 Q9BXJ4 C1QT3_HUMAN C1q and tumor necrosis factor related protein 3 0 Collagen-like. collagen p.P87P(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1) 17 all_lung(31;0.0207) CATCTACCTCGGGGTGCGGTA 0.468000 60 86 0 0 1 0 0 RGL1 23179 broad.mit.edu 37 1 183869323 183869323 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:183869323C>T ENST00000304685.3 + 12 1836 c.1375C>T c.(1375-1377)Ctg>Ttg p.L459L RGL1_ENST00000539189.1_Intron|RGL1_ENST00000536277.1_Silent_p.L422L|RGL1_ENST00000360851.3_Silent_p.L424L|RGL1_ENST00000367531.1_Silent_p.L459L NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 424 Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 GGGCACCTTCCTGACTGACCT 0.522000 70 41 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54756804 54756804 + Silent SNP G G A rs139744787 TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:54756804G>A ENST00000450632.1 - 9 1454 c.1377C>T c.(1375-1377)ttC>ttT p.F459F LILRB5_ENST00000316219.5_Silent_p.F467F|LILRB5_ENST00000449561.2_Silent_p.F468F|LILRB5_ENST00000345866.6_Silent_p.F368F O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 467 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GCAGCAGGACGAAGGCCACTG 0.592000 42 7 0 0 1 0 0 FAM129C 199786 broad.mit.edu 37 19 17654439 17654439 + Splice_Site SNP A A G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:17654439A>G ENST00000335393.4 + 13 1784 c.1647_splice c.e13+1 p.K549_splice FAM129C_ENST00000595684.1_Splice_Site_p.K549_splice|FAM129C_ENST00000601861.1_Splice_Site_p.K518_splice|FAM129C_ENST00000599164.1_Splice_Site_p.K518_splice|FAM129C_ENST00000352727.3_Intron|FAM129C_ENST00000332386.5_Splice_Site_p.K549_splice|FAM129C_ENST00000300971.2_Splice_Site_p.K549_splice|FAM129C_ENST00000599124.1_Intron|FAM129C_ENST00000600871.1_Splice_Site_p.K495_splice|FAM129C_ENST00000449408.2_Splice_Site_p.K275_splice NM_173544.4 NP_775815.2 Q86XR2 NIBL2_HUMAN family with sequence similarity 129, member C 549 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 GGCTGCAAAAAGGTGAGTTAA 0.532000 6 11 0 0 1 0 0 TM4SF5 9032 broad.mit.edu 37 17 4686149 4686149 + Splice_Site SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:4686149G>A ENST00000270560.3 + 4 427 c.395_splice c.e4-1 p.A132_splice NM_003963.2 NP_003954.2 O14894 T4S5_HUMAN transmembrane 4 L six family member 5 132 integral to plasma membrane large_intestine(2)|lung(3)|ovary(1) 6 CCTCCCACAGGGGAGCTTACT 0.667000 11 28 0 0 1 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977327 29977327 + RNA SNP T T C rs143365191 by1000genomes TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:29977327T>C ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA GACAGCTGCCTTGTGTGGGAC 0.438000 4 70 0 0 1 0 0 LMOD1 25802 broad.mit.edu 37 1 201868835 201868835 + Missense_Mutation SNP C C G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:201868835C>G ENST00000367288.4 - 2 1552 c.1306G>C c.(1306-1308)Gag>Cag p.E436Q RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA NM_012134.2 NP_036266.2 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 436 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TTGGCGATCTCCATCTCCGTC 0.592000 45 19 0 0 1 0 0 FSCN3 29999 broad.mit.edu 37 7 127235710 127235710 + Missense_Mutation SNP G G A rs143868079 by1000genomes TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:127235710G>A ENST00000265825.5 + 2 713 c.494G>A c.(493-495)cGc>cAc p.R165H FSCN3_ENST00000420086.2_Missense_Mutation_p.R31H NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 165 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 ACTATGGGCCGCATCTGGGTG 0.612000 4 139 0 0 1 0 0 ZNF181 339318 broad.mit.edu 37 19 35231795 35231795 + Missense_Mutation SNP T T G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:35231795T>G ENST00000392232.3 + 6 809 c.641T>G c.(640-642)cTt>cGt p.L214R ZNF181_ENST00000459757.1_Missense_Mutation_p.L169R|ZNF181_ENST00000492450.1_Missense_Mutation_p.L170R Q2M3W8 ZN181_HUMAN zinc finger protein 181 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) AAGTCTACTCTTTCTGAACCA 0.333000 20 37 0 0 1 0 0 AKR7A3 22977 broad.mit.edu 37 1 19611603 19611603 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:19611603C>T ENST00000361640.4 - 4 1053 c.513G>A c.(511-513)atG>atA p.M171I NM_012067.2 NP_036199.2 O95154 ARK73_HUMAN aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) 171 cellular aldehyde metabolic process cytosol aldo-keto reductase (NADP) activity|electron carrier activity NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2) 13 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TGGCATTGTACATGCCCTGTA 0.532000 23 27 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48848431 48848431 + Missense_Mutation SNP C C A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:48848431C>A ENST00000314191.2 - 13 1364 c.1308G>T c.(1306-1308)gaG>gaT p.E436D PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E436D NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 436 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CCACGAGGTGCTCCAGAACTG 0.448000 Non-homologous end-joining 14 17 1.5842e-08 1.60315e-08 1 1 0 NOP2 4839 broad.mit.edu 37 12 6675298 6675298 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:6675298G>A ENST00000541778.1 - 5 919 c.431C>T c.(430-432)tCc>tTc p.S144F NOP2_ENST00000399466.2_Missense_Mutation_p.S144F|NOP2_ENST00000537442.1_Missense_Mutation_p.S148F|NOP2_ENST00000322166.5_Missense_Mutation_p.S148F|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Missense_Mutation_p.S148F|NOP2_ENST00000545200.1_Missense_Mutation_p.S144F P46087 NOP2_HUMAN NOP2 nucleolar protein 148 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 19 CTCAGAGTTGGAGTCAGCTCC 0.493000 8 12 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128977626 128977626 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:128977626G>A ENST00000274487.4 + 11 1972 c.1827G>A c.(1825-1827)atG>atA p.M609I CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 609 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) ACCCACCAATGGATGGAACTG 0.393000 18 28 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108636231 108636231 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chrX:108636231C>T ENST00000218006.2 - 13 2769 c.2478G>A c.(2476-2478)cgG>cgA p.R826R NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 826 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 GCTCCAACATCCGAAGCATAG 0.353000 44 13 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179434448 179434448 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:179434448G>A ENST00000589042.1 - 326 76635 c.76411C>T c.(76411-76413)Ctg>Ttg p.L25471L TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.L16531L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.L23830L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.L16406L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.L22903L|TTN_ENST00000342175.6_Silent_p.L16598L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23830 Fibronectin type-III 85. 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) TTTTCCAACAGCTTCTCTACT 0.378000 10 27 0 0 1 0 0 TRBV6-1 28606 broad.mit.edu 37 7 142028401 142028401 + RNA SNP T T G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:142028401T>G ENST00000390353.2 + 0 192 GTGCCCAGGATATGAACCATA 0.498000 57 220 0 0 1 0 0 DIS3 22894 broad.mit.edu 37 13 73335837 73335837 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr13:73335837G>A ENST00000377767.4 - 18 2558 c.2458C>T c.(2458-2460)Cgg>Tgg p.R820W DIS3_ENST00000545453.1_Missense_Mutation_p.R658W|DIS3_ENST00000377780.4_Missense_Mutation_p.R790W NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 820 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) ATTTTGTGCCGGAAATTTAGA 0.408000 Multiple Myeloma(4;0.011) 4 60 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28541349 28541349 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:28541349G>A ENST00000452236.2 - 4 2934 c.2317C>T c.(2317-2319)Cca>Tca p.P773S NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 773 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 agttttgatggtttcattgct 0.313000 7 12 0 0 1 0 0 SERPINB12 89777 broad.mit.edu 37 18 61233923 61233923 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr18:61233923C>T ENST00000382768.1 + 7 957 c.957C>T c.(955-957)ttC>ttT p.F319F SERPINB12_ENST00000269491.1_Silent_p.F299F Q96P63 SPB12_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 12 299 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 TCCTGTCCTTCCCCCGGTTCA 0.448000 70 87 0 0 1 0 0 TRBC2 28638 broad.mit.edu 37 7 142499023 142499023 + RNA SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:142499023C>T ENST00000466254.1 + 0 299 AAGTCCAGTTCTACGGGCTCT 0.632000 5 268 0 0 1 0 0 CAT 847 broad.mit.edu 37 11 34474670 34474670 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:34474670C>T ENST00000241052.4 + 5 603 c.514C>T c.(514-516)Cct>Tct p.P172S NM_001752.3 NP_001743.1 P04040 CATA_HUMAN catalase 172 hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection peroxisomal matrix|peroxisomal membrane catalase activity|heme binding|NADP binding|protein homodimerization activity breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3) 26 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) AAagagaaatcctcagacaca 0.383000 15 13 0 0 1 0 0 OR5B21 219968 broad.mit.edu 37 11 58275104 58275104 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:58275104C>T ENST00000360374.2 - 1 474 c.475G>A c.(475-477)Gca>Aca p.A159T NM_001005218.1 NP_001005218.1 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, member 21 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Esophageal squamous(5;0.0027) Breast(21;0.0778) AAGGTGCCTGCTGCATGGATA 0.502000 20 28 0 0 1 0 0 SLC22A6 9356 broad.mit.edu 37 11 62751472 62751472 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:62751472G>A ENST00000377871.3 - 2 683 c.417C>T c.(415-417)tcC>tcT p.S139S SLC22A6_ENST00000360421.4_Silent_p.S139S|SLC22A6_ENST00000421062.2_Silent_p.S139S|SLC22A6_ENST00000458333.2_Silent_p.S139S NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 139 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CCATGTACAAGGACTGGGCCA 0.617000 10 10 0 0 1 0 0 CCAR2 57805 broad.mit.edu 37 8 22474945 22474945 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:22474945C>T ENST00000308511.4 + 15 2107 c.1858C>T c.(1858-1860)Ctt>Ttt p.L620F KIAA1967_ENST00000520861.1_Missense_Mutation_p.L295F|KIAA1967_ENST00000389279.3_Missense_Mutation_p.L620F Q8N163 K1967_HUMAN 620 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5) 25 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) GGAGGATGGGCTTTTGCCCAA 0.502000 54 70 0 0 1 0 0 NR0B2 8431 broad.mit.edu 37 1 27240186 27240186 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:27240186C>T ENST00000254227.3 - 1 271 c.246G>A c.(244-246)caG>caA p.Q82Q NM_021969.2 NP_068804.1 Q15466 NR0B2_HUMAN nuclear receptor subfamily 0, group B, member 2 82 Ligand-binding (By similarity). cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity NS(1)|large_intestine(1)|lung(3) 5 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) GCCGCTGGTCCTGGGGAGGCA 0.647000 14 17 0 0 1 0 0 OR8H1 219469 broad.mit.edu 37 11 56057994 56057994 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:56057994G>A ENST00000313022.2 - 1 572 c.545C>T c.(544-546)cCa>cTa p.P182L NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 182 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) AGCTAAAATTGGAGACGTGTC 0.423000 30 46 0 0 1 0 0 BYSL 705 broad.mit.edu 37 6 41900346 41900346 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:41900346C>T ENST00000230340.4 + 7 1591 c.1216C>T c.(1216-1218)Cgg>Tgg p.R406W NM_004053.3 NP_004044.3 Q13895 BYST_HUMAN bystin-like 406 cell adhesion|female pregnancy|ribosome biogenesis cytoplasm|nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1) 8 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AGAACTGCTCCGGCTGCAGCC 0.597000 57 109 0 0 1 0 0 NR1D1 9572 broad.mit.edu 37 17 38251709 38251709 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:38251709C>T ENST00000246672.3 - 5 1866 c.1236G>A c.(1234-1236)aaG>aaA p.K412K NM_021724.3 NP_068370.1 P20393 NR1D1_HUMAN nuclear receptor subfamily 1, group D, member 1 412 cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2) 11 Colorectal(19;0.000442) GCAGAACATTCTTTGAGTTGC 0.612000 32 51 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127623010 127623010 + Missense_Mutation SNP C C G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:127623010C>G ENST00000508053.1 - 60 7844 c.6870G>C c.(6868-6870)aaG>aaC p.K2290N FBN2_ENST00000262464.4_Missense_Mutation_p.K2290N P35556 FBN2_HUMAN fibrillin 2 2290 EGF-like 38; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent 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) CTTTGCACATCTTTTGATCTT 0.453000 38 59 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870939 51870939 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr20:51870939G>A ENST00000371497.5 + 2 1829 c.942G>A c.(940-942)tcG>tcA p.S314S TSHZ2_ENST00000603338.2_Silent_p.S311S|TSHZ2_ENST00000329613.6_Silent_p.S311S NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 314 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CCATTTCCTCGAAAATGGTCA 0.453000 40 51 0 0 1 0 0 CHST1 8534 broad.mit.edu 37 11 45672382 45672382 + Missense_Mutation SNP A A T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:45672382A>T ENST00000308064.2 - 4 762 c.92T>A c.(91-93)tTt>tAt p.F31Y NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 31 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GCAGGTGTGAAAGGACTTGGC 0.652000 30 66 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12984532 12984532 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:12984532C>T ENST00000251472.4 + 26 3600 c.3561C>T c.(3559-3561)ctC>ctT p.L1187L NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 1187 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 CGCCAAAGCTCCATCGCCAGT 0.697000 12 13 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3133098 3133098 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:3133098C>T ENST00000355072.5 + 15 2217 c.2072C>T c.(2071-2073)tCg>tTg p.S691L NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 691 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) TTATCTGCTTCGTTTTTGCTA 0.458000 19 27 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106897900 106897900 + Missense_Mutation SNP T T C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:106897900T>C ENST00000228347.4 + 27 3362 c.3140T>C c.(3139-3141)cTc>cCc p.L1047P RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Missense_Mutation_p.L989P NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 1047 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 GGCTTGCGTCTCGGGGAAATG 0.418000 28 48 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43623419 43623419 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr22:43623419G>A ENST00000360835.3 - 10 1294 c.1168C>T c.(1168-1170)Ccg>Tcg p.P390S NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 390 EGF-like 9; calcium-binding (Potential). adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) CGCCTCCCCGGGGGACAGACG 0.667000 19 12 0 0 1 0 0 LRIF1 55791 broad.mit.edu 37 1 111494584 111494584 + Missense_Mutation SNP T T C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:111494584T>C ENST00000369763.4 - 2 1312 c.922A>G c.(922-924)Aag>Gag p.K308E RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron NM_018372.3 NP_060842.3 Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 TTTGAAGACTTAACAGGAACA 0.358000 40 22 0 0 1 0 0 GAST 2520 broad.mit.edu 37 17 39871808 39871808 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:39871808G>A ENST00000329402.3 + 2 187 c.120G>A c.(118-120)agG>agA p.R40R JUP_ENST00000540235.1_Intron NM_000805.4 NP_000796.1 P01350 GAST_HUMAN gastrin 40 Cleavage. extracellular region hormone activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 Breast(137;0.000307) BRCA - Breast invasive adenocarcinoma(4;0.0677) GGGCCAACAGGGACCTGGAGC 0.632000 52 82 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 112 36 0 0 1 0 0 TGFB3 7043 broad.mit.edu 37 14 76446913 76446913 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr14:76446913G>A ENST00000238682.3 - 1 621 c.324C>T c.(322-324)ttC>ttT p.F108F TGFB3_ENST00000556285.1_Silent_p.F108F NM_003239.2 NP_003230.1 P10600 TGFB3_HUMAN transforming growth factor, beta 3 108 cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway extracellular matrix|platelet alpha granule lumen growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 11 BRCA - Breast invasive adenocarcinoma(234;0.0169) GGATCATGTCGAATTTATGGA 0.577000 50 66 0 0 1 0 0 MTA1 9112 broad.mit.edu 37 14 105929534 105929534 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr14:105929534C>T ENST00000331320.7 + 11 1170 c.956C>T c.(955-957)tCg>tTg p.S319L MTA1_ENST00000405646.1_Missense_Mutation_p.S302L|MTA1_ENST00000406191.1_Missense_Mutation_p.S319L|MTA1_ENST00000435036.2_5'UTR NM_001203258.1|NM_004689.3 NP_001190187.1|NP_004680.2 Q13330 MTA1_HUMAN metastasis associated 1 319 SANT. 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) CCGTGGAAGTCGCTGACCAGC 0.652000 65 80 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10534974 10534974 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:10534974C>T ENST00000583535.1 - 36 5327 c.5240G>A c.(5239-5241)aGg>aAg p.R1747K MYH3_ENST00000226209.7_Missense_Mutation_p.R1747K NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1747 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 CCTTGCATCCCTGCTGGCATC 0.567000 OREG0024180 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 23 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503739 140503739 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:140503739C>T ENST00000194152.1 + 1 2159 c.2159C>T c.(2158-2160)tCg>tTg p.S720L NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 720 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) AGGGCGGCCTCGGTGGGTCGC 0.672000 77 84 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13769687 13769687 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:13769687C>T ENST00000265104.4 - 57 9747 c.9643G>A c.(9643-9645)Gag>Aag p.E3215K DNAH5_ENST00000504001.3_5'UTR NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3215 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCAACAGACTCTGAAGCTTCT 0.428000 Kartagener syndrome 6 86 0 0 1 0 0 IFIH1 64135 broad.mit.edu 37 2 163144837 163144837 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:163144837G>A ENST00000263642.2 - 5 1298 c.903C>T c.(901-903)tcC>tcT p.S301S NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 301 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 CTGGCTCCGGGGATGCTCTTG 0.473000 13 22 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49754516 49754516 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:49754516C>T ENST00000304801.3 - 1 537 c.385G>A c.(385-387)Gaa>Aaa p.E129K NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 129 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) CCCTTCCCTTCTTCCTCCACA 0.517000 28 75 0 0 1 0 0 C6orf195 154386 broad.mit.edu 37 6 2623880 2623880 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:2623880G>A ENST00000296847.3 - 3 700 c.177C>T c.(175-177)tcC>tcT p.S59S NM_152554.2 NP_689767.2 Q96MT4 CF195_HUMAN chromosome 6 open reading frame 195 59 cervix(1)|endometrium(1)|lung(2)|skin(1) 5 Ovarian(93;0.0412) all_hematologic(90;0.0895) ACCCGGGAGGGGAGAGGAGCC 0.617000 65 52 0 0 1 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130278836 130278836 + Splice_Site SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:130278836C>T ENST00000257359.6 - 7 2457 c.e7-1 NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) AAGCTTTTCCCTAGAAAGAGG 0.498000 27 40 0 0 1 0 0 IL27RA 9466 broad.mit.edu 37 19 14159865 14159865 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:14159865C>T ENST00000263379.2 + 9 1339 c.1214C>T c.(1213-1215)tCc>tTc p.S405F NM_004843.3 NP_004834.1 Q6UWB1 I27RA_HUMAN interleukin 27 receptor, alpha 405 Fibronectin type-III 2. cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 26 GCCTCTGCATCCTCCGTCTGG 0.562000 OREG0025303 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 56 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17701056 17701056 + Splice_Site SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:17701056C>T ENST00000261641.6 + 1 4794 c.4794_splice c.e1+1 p.F1598_splice RAI1_ENST00000353383.1_Silent_p.F1598F Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1598 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) TCTCACCCTTCGTGCGGGTGG 0.612000 61 77 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39604026 39604026 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:39604026C>T ENST00000265708.4 - 19 2242 c.2139G>A c.(2137-2139)agG>agA p.R713R ADAM2_ENST00000521880.1_Silent_p.R650R|ADAM2_ENST00000347580.4_Silent_p.R694R|ADAM2_ENST00000379853.2_Silent_p.R557R NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 713 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TCCATTTTTTCCTTTGGAAAT 0.284000 17 23 0 0 1 0 0 IL36B 27177 broad.mit.edu 37 2 113785678 113785678 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:113785678C>T ENST00000327407.2 - 5 383 c.276G>A c.(274-276)atG>atA p.M92I IL36B_ENST00000259213.4_Intron NM_173178.1 NP_775270.1 Q9NZH7 IL36B_HUMAN interleukin 36, beta 92 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 CATACAGGTCCATGATATTTT 0.463000 26 29 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77407528 77407528 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr15:77407528G>A ENST00000560626.2 - 7 4686 c.4211C>T c.(4210-4212)cCc>cTc p.P1404L PEAK1_ENST00000312493.4_Missense_Mutation_p.P1404L Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 1404 Protein kinase. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding ATCCTCCCAGGGAAGCAGACG 0.498000 21 37 0 0 1 0 0 HABP2 3026 broad.mit.edu 37 10 115337882 115337882 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr10:115337882C>T ENST00000537906.1 + 7 674 c.512C>T c.(511-513)tCa>tTa p.S171L HABP2_ENST00000351270.3_Silent_p.F182F|HABP2_ENST00000541666.1_Silent_p.F182F|HABP2_ENST00000542051.1_Silent_p.F156F Q14520 HABP2_HUMAN hyaluronan binding protein 2 0 EGF-like 3. Cleavage (By similarity). cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) CCGACCAGTTCAAGGGGAAAT 0.552000 33 3 0 0 1 0 0 TTC39A 22996 broad.mit.edu 37 1 51767281 51767281 + Missense_Mutation SNP T T A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:51767281T>A ENST00000447632.2 - 12 1172 c.1124A>T c.(1123-1125)tAc>tTc p.Y375F TTC39A_ENST00000262675.7_Missense_Mutation_p.Y312F|TTC39A_ENST00000413473.2_Missense_Mutation_p.Y343F|TTC39A_ENST00000451380.1_Missense_Mutation_p.Y339F|TTC39A_ENST00000371747.3_Missense_Mutation_p.Y374F|TTC39A_ENST00000262676.5_3'UTR|TTC39A_ENST00000371750.5_Missense_Mutation_p.Y340F Q5SRH9 TT39A_HUMAN tetratricopeptide repeat domain 39A 375 binding p.0?(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1) 17 CAGGTCGGCGTAGAAGTAGGA 0.582000 6 15 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9438089 9438089 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr20:9438089G>A ENST00000378501.2 + 30 3004 c.2989G>A c.(2989-2991)Gaa>Aaa p.E997K PLCB4_ENST00000378493.1_Missense_Mutation_p.E997K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.E997K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E997K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E1009K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E1009K NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 997 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 AATGAAAAAAGAAACAGAAAT 0.358000 7 18 0 0 1 0 0 ABHD15 116236 broad.mit.edu 37 17 27889631 27889631 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:27889631G>A ENST00000307201.4 - 2 1525 c.1355C>T c.(1354-1356)tCc>tTc p.S452F RP11-68I3.2_ENST00000581474.1_RNA NM_198147.2 NP_937790.2 Q6UXT9 ABH15_HUMAN abhydrolase domain containing 15 452 extracellular region carboxylesterase activity breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 10 GTTGGAAGAGGAAGAGACTTC 0.552000 35 68 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128134093 128134093 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:128134093C>T ENST00000368250.1 - 5 1954 c.1456G>A c.(1456-1458)Gaa>Aaa p.E486K THEMIS_ENST00000537166.1_Missense_Mutation_p.E530K|THEMIS_ENST00000368248.2_Missense_Mutation_p.E565K|THEMIS_ENST00000543064.1_Missense_Mutation_p.E565K Q8N1K5 THMS1_HUMAN thymocyte selection associated 565 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 AACTTTGTTTCCTCTACTGAG 0.483000 47 32 0 0 1 0 0 PTPN7 5778 broad.mit.edu 37 1 202123317 202123317 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:202123317C>T ENST00000309017.3 - 6 1691 c.918G>A c.(916-918)aaG>aaA p.K306K PTPN7_ENST00000308986.5_Silent_p.K201K|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000543735.1_Silent_p.K30K|PTPN7_ENST00000367279.4_Silent_p.K240K NM_001199797.1|NM_002832.3 NP_001186726.1|NP_002823.3 P35236 PTN7_HUMAN protein tyrosine phosphatase, non-receptor type 7 201 Tyrosine-protein phosphatase. cytosol|internal side of plasma membrane protein binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1) 13 CTCCTACCTCCTTGCCCTCTC 0.592000 37 21 0 0 1 0 0 TRIM46 80128 broad.mit.edu 37 1 155156314 155156314 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:155156314C>T ENST00000368382.1 + 10 1996 c.1859C>T c.(1858-1860)gCc>gTc p.A620V TRIM46_ENST00000545012.1_Missense_Mutation_p.A517V|TRIM46_ENST00000334634.4_Missense_Mutation_p.A643V|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000468878.1_3'UTR NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4 NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3 Q7Z4K8 TRI46_HUMAN tripartite motif containing 46 643 B30.2/SPRY. intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCCGAGGATGCCACAGTGGAG 0.632000 57 54 0 0 1 0 0 CD44 960 broad.mit.edu 37 11 35211490 35211490 + Missense_Mutation SNP C C T rs141155638 TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:35211490C>T ENST00000263398.6 + 5 979 c.545C>T c.(544-546)tCc>tTc p.S182F CD44_ENST00000449691.2_Missense_Mutation_p.S182F|CD44_ENST00000526669.2_Intron|CD44_ENST00000434472.2_Missense_Mutation_p.S182F|CD44_ENST00000360158.4_Missense_Mutation_p.S182F|CD44_ENST00000433354.2_Missense_Mutation_p.S182F|CD44_ENST00000352818.4_Missense_Mutation_p.S182F|CD44_ENST00000428726.2_Missense_Mutation_p.S182F|CD44_ENST00000433892.2_Missense_Mutation_p.S182F|CD44_ENST00000415148.2_Missense_Mutation_p.S182F|CD44_ENST00000437706.2_Missense_Mutation_p.S182F|CD44_ENST00000278386.6_Intron NM_001001391.1|NM_001202555.1|NM_001202556.1 NP_001001391.1|NP_001189484.1|NP_001189485.1 P16070 CD44_HUMAN CD44 molecule (Indian blood group) 182 cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1) 23 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) AGCAGCGGCTCCTCCAGTGAA 0.517000 20 37 0 0 1 0 0 RORB 6096 broad.mit.edu 37 9 77282747 77282747 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:77282747G>A ENST00000376896.2 + 8 1653 c.1041G>A c.(1039-1041)aaG>aaA p.K347K RORB_ENST00000396204.2_Silent_p.K358K NM_006914.3 NP_008845.2 Q92753 RORB_HUMAN RAR-related orphan receptor B 358 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 ACTTTGCAAAGAATTTGTGTT 0.398000 34 50 0 0 1 0 0 BCL2L10 10017 broad.mit.edu 37 15 52404609 52404609 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr15:52404609C>T ENST00000260442.3 - 1 363 c.315G>A c.(313-315)ggG>ggA p.G105G BCL2L10_ENST00000561198.1_Silent_p.G105G NM_020396.2 NP_065129.1 Q9HD36 B2L10_HUMAN BCL2-like 10 (apoptosis facilitator) 95 activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 all cancers(107;0.0148) CCAGCAGCGTCCCTGCGAAGG 0.701000 9 12 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3984759 3984759 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:3984759G>A ENST00000381638.2 - 18 2864 c.2740C>T c.(2740-2742)Ctt>Ttt p.L914F ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 914 calcium ion binding|zinc ion binding p.L914delL(1) central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 TCAGGTAAAAGAAGAAGGCCG 0.448000 44 41 0 0 1 0 0 EVA1C 59271 broad.mit.edu 37 21 33887212 33887212 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr21:33887212C>T ENST00000300255.2 + 8 1511 c.1038C>T c.(1036-1038)tcC>tcT p.S346S EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000382699.3_Silent_p.S343S|EVA1C_ENST00000401402.3_Silent_p.S298S NM_058187.3 NP_478067.2 eva-1 homolog C (C. elegans) TCAGAGAGTCCTGTGCCAAGG 0.627000 17 31 0 0 1 0 0 CCNY 219771 broad.mit.edu 37 10 35842087 35842087 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr10:35842087C>T ENST00000374704.4 + 8 900 c.720C>T c.(718-720)atC>atT p.I240I CCNY_ENST00000339497.5_Silent_p.I215I|CCNY_ENST00000374706.1_Silent_p.I186I|CCNY_ENST00000265375.9_Silent_p.I186I|CCNY_ENST00000492478.1_3'UTR NM_145012.4 NP_659449.3 Q8ND76 CCNY_HUMAN cyclin Y 240 Cyclin N-terminal. cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane cyclin-dependent protein kinase regulator activity|protein kinase binding cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 8 ACTGCCAGATCCTGAAAGACA 0.537000 24 13 0 0 1 0 0 DYNAP 284254 broad.mit.edu 37 18 52265196 52265196 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr18:52265196C>T ENST00000321600.1 + 3 499 c.453C>T c.(451-453)tcC>tcT p.S151S DYNAP_ENST00000585973.1_Silent_p.S99S NM_173629.1 NP_775900.1 dynactin associated protein TCCAGCTATCCACAAATGATG 0.448000 19 30 0 0 1 0 0 CCDC158 339965 broad.mit.edu 37 4 77283442 77283442 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:77283442C>T ENST00000388914.3 - 12 2009 c.1857G>A c.(1855-1857)aaG>aaA p.K619K NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 619 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 GCTCCCGGATCTTTGCATCTT 0.393000 41 65 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 40999866 40999866 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:40999866C>T ENST00000399564.4 - 40 4948 c.4498G>A c.(4498-4500)Gaa>Aaa p.E1500K MROH2B_ENST00000506092.2_Missense_Mutation_p.E1055K NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CACAGAATTTCCTGGTTTTTC 0.473000 21 48 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28588421 28588421 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr18:28588421C>T ENST00000434452.1 - 10 1488 c.1334G>A c.(1333-1335)aGa>aAa p.R445K DSC3_ENST00000360428.4_Missense_Mutation_p.R445K NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 445 Cadherin 3. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) GGGAATATCTCTAGCAAATGG 0.438000 19 40 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70065275 70065275 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:70065275G>A ENST00000330891.5 - 9 1259 c.1033C>T c.(1033-1035)Cca>Tca p.P345S BEST3_ENST00000488961.1_Missense_Mutation_p.P132S|BEST3_ENST00000476098.1_Missense_Mutation_p.P132S|BEST3_ENST00000553096.1_Missense_Mutation_p.P239S|BEST3_ENST00000331471.4_Missense_Mutation_p.P345S NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 345 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GTGTATGGTGGGCGAGCAGCA 0.423000 23 40 0 0 1 0 0 THRAP3 9967 broad.mit.edu 37 1 36752311 36752311 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:36752311C>T ENST00000354618.5 + 4 704 c.480C>T c.(478-480)tcC>tcT p.S160S THRAP3_ENST00000469141.2_Silent_p.S160S NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 160 Arg-rich.|Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCTCATCCTCCCGTTCTTCCT 0.537000 T USP6 aneurysmal bone cysts 130 187 0 0 1 0 0 CCDC158 339965 broad.mit.edu 37 4 77303873 77303873 + Splice_Site SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:77303873C>T ENST00000388914.3 - 7 956 c.803_splice c.e7-1 p.R268_splice CCDC158_ENST00000434846.2_Splice_Site_p.R268_splice NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 268 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 ACTGCTCAATCCTATAAAAAG 0.318000 18 27 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132471144 132471144 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:132471144C>T ENST00000333577.4 + 7 2232 c.2123C>T c.(2122-2124)cCt>cTt p.P708L EP400_ENST00000332482.4_Missense_Mutation_p.P635L|EP400_ENST00000389562.2_Missense_Mutation_p.P671L|EP400_ENST00000389561.2_Missense_Mutation_p.P672L|EP400_ENST00000330386.6_Missense_Mutation_p.P672L Q96L91 EP400_HUMAN E1A binding protein p400 708 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TCCCTCGCGCCTGTGAGTGGC 0.632000 40 53 0 0 1 0 0 ZP2 7783 broad.mit.edu 37 16 21213056 21213056 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr16:21213056G>A ENST00000574002.1 - 14 1957 c.1475C>T c.(1474-1476)cCa>cTa p.P492L ZP2_ENST00000574091.1_Missense_Mutation_p.P483L|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.P492L Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 492 ZP. binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) CAAGGTAAATGGACCCAACTT 0.413000 47 57 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136073 40136073 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:40136073G>A ENST00000278198.2 - 2 3733 c.1770C>T c.(1768-1770)atC>atT p.I590I LRRC4C_ENST00000527150.1_Silent_p.I590I|LRRC4C_ENST00000528697.1_Silent_p.I590I|LRRC4C_ENST00000530763.1_Silent_p.I590I Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 590 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GCTCATGCTCGATAGCAGGCA 0.423000 43 56 0 0 1 0 0 GPC3 2719 broad.mit.edu 37 X 132730587 132730587 + Missense_Mutation SNP T T A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chrX:132730587T>A ENST00000370818.3 - 7 1899 c.1454A>T c.(1453-1455)gAt>gTt p.D485V GPC3_ENST00000543339.1_Missense_Mutation_p.D431V|GPC3_ENST00000394299.2_Missense_Mutation_p.D508V NM_001164618.1|NM_004484.3 NP_001158090.1|NP_004475.1 P51654 GPC3_HUMAN glypican 3 485 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2) 36 Acute lymphoblastic leukemia(192;0.000127) CAGGTTTTTATCCAGAACTCT 0.448000 """T, D, Mis, N, F, S""" Wilms tumour Simpson-Golabi-Behmel syndrome 68 5 0 0 1 0 0 OR1A1 8383 broad.mit.edu 37 17 3118921 3118921 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:3118921G>A ENST00000304094.1 + 1 7 c.7G>A c.(7-9)Gaa>Aaa p.E3K NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 AGCCATGAGGGAAAATAACCA 0.403000 10 30 0 0 1 0 0 RPLP0 6175 broad.mit.edu 37 12 120634627 120634627 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:120634627C>T ENST00000551150.1 - 7 1218 c.903G>A c.(901-903)aaG>aaA p.K301K RPLP0_ENST00000552292.1_Silent_p.K91K|RPLP0_ENST00000392514.4_Silent_p.K301K|RPLP0_ENST00000228306.4_Silent_p.K301K|RPLP0_ENST00000313104.5_Silent_p.K239K|RPLP0_ENST00000546989.1_Silent_p.K265K P05388 RLA0_HUMAN ribosomal protein, large, P0 301 endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus protein binding|RNA binding|structural constituent of ribosome breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCGACTCTTCCTTGGCTTCAA 0.517000 24 23 0 0 1 0 0 RXFP1 59350 broad.mit.edu 37 4 159493933 159493933 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:159493933C>T ENST00000307765.5 + 2 384 c.133C>T c.(133-135)Ctg>Ttg p.L45L RXFP1_ENST00000460056.2_5'UTR|RXFP1_ENST00000343542.5_Silent_p.L45L|RXFP1_ENST00000470033.1_Silent_p.L45L|RXFP1_ENST00000448688.2_5'UTR|RXFP1_ENST00000423548.1_Silent_p.L45L NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 45 LDL-receptor class A. integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) GCCTCAGCTCCTGCACTGTAA 0.552000 44 44 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70450888 70450888 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr10:70450888C>T ENST00000373644.4 + 12 5937 c.5728C>T c.(5728-5730)Ctc>Ttc p.L1910F NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 1910 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 AGTGGCTCCTCTCCCCACCCT 0.587000 31 6 0 0 1 0 0 CIB3 117286 broad.mit.edu 37 19 16275656 16275656 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:16275656C>T ENST00000269878.4 - 5 464 c.415G>A c.(415-417)Ggg>Agg p.G139R CIB3_ENST00000379859.3_Missense_Mutation_p.G90R|CIB3_ENST00000541493.1_5'UTR NM_054113.2 NP_473454.1 Q96Q77 CIB3_HUMAN calcium and integrin binding family member 3 139 G -> E (in dbSNP:rs6512087). calcium ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 GCACTCAGCCCCCCCCGCGTC 0.567000 24 51 0 0 1 0 0 ZNF311 282890 broad.mit.edu 37 6 28967775 28967775 + Silent SNP T T C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:28967775T>C ENST00000377179.3 - 4 653 c.141A>G c.(139-141)ggA>ggG p.G47G ZNF311_ENST00000483450.1_5'UTR NM_001010877.2 NP_001010877.2 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 47 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2) 28 GCGGCAGGTTTCCTTGGCTTC 0.453000 20 11 0 0 1 0 0 STOM 2040 broad.mit.edu 37 9 124116909 124116909 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:124116909G>A ENST00000286713.2 - 3 225 c.208C>T c.(208-210)Cgc>Tgc p.R70C STOM_ENST00000347359.2_Intron|STOM_ENST00000538954.1_Missense_Mutation_p.R19C NM_004099.4 NP_004090.4 P27105 STOM_HUMAN stomatin 70 protein homooligomerization cytoskeleton|integral to plasma membrane|melanosome|membrane raft protein binding endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137) TGTAAAATGCGACCCAATCTA 0.299000 22 26 0 0 1 0 0 IGKV1D-13 28902 broad.mit.edu 37 2 90193280 90193280 + RNA SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:90193280G>A ENST00000390275.2 + 0 387 CTAAGCTCCTGATCTATGATG 0.537000 36 196 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87967673 87967673 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:87967673C>T ENST00000369577.3 + 8 4369 c.4326C>T c.(4324-4326)ttC>ttT p.F1442F ZNF292_ENST00000339907.4_Silent_p.F1437F NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1442 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) AATCTACCTTCAATCCAGAAG 0.413000 64 22 0 0 1 0 0 CNNM3 26505 broad.mit.edu 37 2 97494860 97494860 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:97494860C>T ENST00000305510.3 + 7 2076 c.2048C>T c.(2047-2049)aCc>aTc p.T683I CNNM3_ENST00000480035.1_3'UTR|ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Missense_Mutation_p.T635I NM_017623.4 NP_060093.3 Q8NE01 CNNM3_HUMAN cyclin M3 683 ion transport integral to membrane|plasma membrane protein binding NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2) 13 GAGAAGACCACCACAGCGGCA 0.622000 16 20 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119735476 119735476 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:119735476G>A ENST00000541757.1 + 9 877 c.497G>A c.(496-498)gGa>gAa p.G166E MARCO_ENST00000327097.4_Missense_Mutation_p.G244E Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 244 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 GGGGAAACTGGAACTAAGGGA 0.602000 9 12 0 0 1 0 0 SULT2A1 6822 broad.mit.edu 37 19 48378023 48378023 + Missense_Mutation SNP G G C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:48378023G>C ENST00000222002.3 - 5 775 c.636C>G c.(634-636)aaC>aaG p.N212K NM_003167.3 NP_003158.2 Q06520 ST2A1_HUMAN sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 212 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) TGAGAATTAAGTTCAGTTCTT 0.393000 47 5 0 0 1 0 0 PER3 8863 broad.mit.edu 37 1 7845570 7845570 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:7845570C>T ENST00000377532.3 + 2 422 c.198C>T c.(196-198)ttC>ttT p.F66F PER3_ENST00000361923.2_Silent_p.F66F|PER3_ENST00000377541.1_Silent_p.F66F P56645 PER3_HUMAN period circadian clock 3 66 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) AAAAATACTTCCCCTCGGAGA 0.413000 24 31 0 0 1 0 0 METTL16 79066 broad.mit.edu 37 17 2323331 2323331 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:2323331C>T ENST00000263092.5 - 10 1749 c.1622G>A c.(1621-1623)aGg>aAg p.R541K METTL16_ENST00000571669.1_5'UTR|METTL16_ENST00000538844.1_Missense_Mutation_p.R323K NM_024086.3 NP_076991.3 Q86W50 MET16_HUMAN methyltransferase like 16 541 methyltransferase activity kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 19 CATCAGATCCCTGTTCTGGCC 0.473000 4 66 0 0 1 0 0 NOS3 4846 broad.mit.edu 37 7 150690942 150690942 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:150690942G>A ENST00000297494.3 + 2 408 c.51G>A c.(49-51)ctG>ctA p.L17L NOS3_ENST00000461406.1_Intron|NOS3_ENST00000467517.1_Silent_p.L17L|NOS3_ENST00000484524.1_Silent_p.L17L NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 17 anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) CCTGCGGCCTGGGGCTGGGGC 0.706000 20 81 0 0 1 0 0 PHLDB1 23187 broad.mit.edu 37 11 118498881 118498881 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:118498881C>T ENST00000361417.2 + 7 1753 c.1342C>T c.(1342-1344)Cgg>Tgg p.R448W PHLDB1_ENST00000356063.5_Missense_Mutation_p.R448W NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 448 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) CCGCCTGGGCCGGCGGGGCCT 0.647000 62 96 0 0 1 0 0 CA4 762 broad.mit.edu 37 17 58235475 58235475 + Silent SNP T T C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:58235475T>C ENST00000300900.4 + 6 666 c.567T>C c.(565-567)aaT>aaC p.N189N NM_000717.3 NP_000708.1 P22748 CAH4_HUMAN carbonic anhydrase IV 189 bicarbonate transport|one-carbon metabolic process anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane carbonate dehydratase activity|protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(5)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.83e-12)|all cancers(12;6.83e-11) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) CACTGTCTAATATCCCCAAAC 0.617000 34 33 0 0 1 0 0 SART1 9092 broad.mit.edu 37 11 65732014 65732014 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:65732014C>T ENST00000312397.5 + 3 492 c.400C>T c.(400-402)Ccc>Tcc p.P134S SART1_ENST00000528573.1_3'UTR NM_005146.4 NP_005137.1 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T cells 134 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GGGGCTGAAACCCTTGGAGGT 0.498000 25 33 0 0 1 0 0 C19orf55 148137 broad.mit.edu 37 19 36259305 36259305 + Splice_Site SNP G G T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:36259305G>T ENST00000544099.1 + 11 1365 c.e11-1 C19orf55_ENST00000396908.4_Splice_Site Q2NL68 CS055_HUMAN chromosome 19 open reading frame 55 cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCTTTCTCCAGGGAAGCGGAT 0.632000 10 18 1.76689e-08 1.78376e-08 1 1 0 TMEM202 338949 broad.mit.edu 37 15 72690700 72690700 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr15:72690700C>T ENST00000341689.3 + 1 87 c.33C>T c.(31-33)ttC>ttT p.F11F TMEM202_ENST00000567679.1_Silent_p.F11F NM_001080462.1 NP_001073931.1 A6NGA9 TM202_HUMAN transmembrane protein 202 11 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 18 CCTTGACTTTCCACAGTCCTG 0.448000 8 13 0 0 1 0 0 OR8K3 219473 broad.mit.edu 37 11 56086282 56086282 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:56086282C>T ENST00000312711.1 + 1 500 c.500C>T c.(499-501)tCc>tTc p.S167F NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) TTTACTTTATCCTTCTGTGGC 0.373000 21 27 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103338454 103338454 + Missense_Mutation SNP T T G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:103338454T>G ENST00000428762.1 - 10 1148 c.989A>C c.(988-990)cAg>cCg p.Q330P RELN_ENST00000343529.5_Missense_Mutation_p.Q330P|RELN_ENST00000424685.2_Missense_Mutation_p.Q330P NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 330 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AAGATTTTCCTGCTTCCACTG 0.448000 174 81 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113697977 113697977 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:113697977G>A ENST00000003302.4 - 11 1233 c.1165C>T c.(1165-1167)Cct>Tct p.P389S USP28_ENST00000537706.1_Missense_Mutation_p.P389S|USP28_ENST00000260188.5_Missense_Mutation_p.P389S|USP28_ENST00000545540.1_Missense_Mutation_p.P264S|USP28_ENST00000544967.1_Missense_Mutation_p.P97S NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 389 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) ATAATCTGAGGAAATTCCAGC 0.393000 16 22 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22952108 22952108 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:22952108C>T ENST00000397104.3 - 2 84 c.85G>A c.(85-87)Gat>Aat p.D29N ZNF99_ENST00000596209.1_Missense_Mutation_p.D8N zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) ATGGTCACATCCCAAAATGTC 0.393000 25 35 0 0 1 0 0 FIBCD1 84929 broad.mit.edu 37 9 133799688 133799688 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:133799688G>A ENST00000372338.4 - 3 890 c.648C>T c.(646-648)ccC>ccT p.P216P FIBCD1_ENST00000253018.4_Silent_p.P58P|FIBCD1_ENST00000448616.1_Silent_p.P216P|FIBCD1_ENST00000372337.2_Silent_p.P58P NM_032843.4 NP_116232.3 Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 216 signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1) 12 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) CCTTGTTGCGGGGCCGGCCCA 0.706000 14 14 0 0 1 0 0 BRD3 8019 broad.mit.edu 37 9 136917538 136917538 + Missense_Mutation SNP T T C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:136917538T>C ENST00000303407.7 - 3 426 c.241A>G c.(241-243)Atg>Gtg p.M81V BRD3_ENST00000371834.2_Missense_Mutation_p.M81V|BRD3_ENST00000357885.2_Missense_Mutation_p.M81V NM_007371.3 NP_031397.1 Q15059 BRD3_HUMAN bromodomain containing 3 81 Bromo 1. nucleus protein binding BRD3/C15orf55(3) kidney(1)|skin(1)|stomach(4) 6 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) CCCATATCCATTGGGTTTTTA 0.323000 T C15orf55 lethal midline carcinoma of young people 16 26 0 0 1 0 0 IGKV1-8 28942 broad.mit.edu 37 2 89292150 89292150 + RNA SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:89292150G>A ENST00000495489.1 - 0 175 CCCGACAAGTGATGGTGACTC 0.483000 69 90 0 0 1 0 0 ADH1B 125 broad.mit.edu 37 4 100237264 100237264 + Missense_Mutation SNP G G T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:100237264G>T ENST00000305046.8 - 5 425 c.358C>A c.(358-360)Cct>Act p.P120T ADH1B_ENST00000394887.3_Missense_Mutation_p.P80T P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 120 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) GTCCCCCGAGGATTGCCTAGA 0.542000 11 26 1.08611e-07 1.09127e-07 1 1 0 TRBV24-1 28563 broad.mit.edu 37 7 142364669 142364669 + RNA SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:142364669C>T ENST00000390397.2 + 0 340 GTCTGCCATCCCCAACCAGAC 0.478000 118 51 0 0 1 0 0 WDR55 54853 broad.mit.edu 37 5 140049145 140049145 + Nonsense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:140049145G>A ENST00000358337.5 + 7 1295 c.1058G>A c.(1057-1059)tGg>tAg p.W353* WDR55_ENST00000520764.1_3'UTR NM_017706.4 NP_060176.2 Q9H6Y2 WDR55_HUMAN WD repeat domain 55 353 rRNA processing cytoplasm|nucleolus NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCAAGACTTGGAGCACCGAT 0.552000 6 8 0 0 1 0 0 ANO1 55107 broad.mit.edu 37 11 70009453 70009453 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:70009453G>A ENST00000316296.5 + 17 1888 c.1783G>A c.(1783-1785)Gaa>Aaa p.E595K ANO1_ENST00000538023.1_Intron|ANO1_ENST00000398543.2_Intron|ANO1_ENST00000531349.1_Intron|ANO1_ENST00000355303.5_Intron|ANO1_ENST00000530676.1_Intron Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 0 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity p.?(2) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 AGAGGTAACCGAAATTTTATT 0.483000 23 18 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17331559 17331559 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:17331559G>A ENST00000452699.1 - 4 486 c.297C>T c.(295-297)tcC>tcT p.S99S ATP13A2_ENST00000326735.8_Silent_p.S99S|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.S99S NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 99 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) AGAGCTGCCAGGAACTATCCT 0.637000 23 17 0 0 1 0 0 RNF220 55182 broad.mit.edu 37 1 45088459 45088459 + Splice_Site SNP G G C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:45088459G>C ENST00000355387.2 + 4 1254 c.804_splice c.e4+1 p.K268_splice RNF220_ENST00000443020.2_Splice_Site_p.K29_splice|RNF220_ENST00000372247.2_Splice_Site_p.K268_splice|RNF220_ENST00000361799.2_Splice_Site_p.K268_splice Q5VTB9 RN220_HUMAN ring finger protein 220 268 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 GCACCCCAAAGGTAGGTGGCC 0.502000 25 39 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79181271 79181271 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr14:79181271C>T ENST00000554719.1 + 5 1205 c.714C>T c.(712-714)atC>atT p.I238I NRXN3_ENST00000335750.5_Silent_p.I238I NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0 Laminin G-like. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TGGGCTGCATCCGCGACCTAT 0.577000 22 27 0 0 1 0 0 C2orf61 285051 broad.mit.edu 37 2 47380147 47380147 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:47380147G>A ENST00000294947.2 - 2 125 c.90C>T c.(88-90)gcC>gcT p.A30A C2orf61_ENST00000445927.2_Silent_p.A30A|CALM2_ENST00000422269.1_5'UTR NM_173649.2 NP_775920.1 Q8N801 CB061_HUMAN chromosome 2 open reading frame 61 30 p.0?(2) endometrium(1)|kidney(1)|lung(2) 4 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) AAGTCTTTTGGGCTGGTTTCT 0.318000 17 16 0 0 1 0 0 LRRC41 10489 broad.mit.edu 37 1 46746939 46746939 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:46746939C>T ENST00000343304.6 - 5 1899 c.1614G>A c.(1612-1614)gaG>gaA p.E538E LRRC41_ENST00000472710.1_5'UTR NM_006369.4 NP_006360.3 Q15345 LRC41_HUMAN leucine rich repeat containing 41 538 breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) CACGTGTCAGCTCCAGGATGG 0.632000 27 33 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186954254 186954254 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr3:186954254C>T ENST00000296280.6 - 11 1630 c.1405G>A c.(1405-1407)Gtg>Atg p.V469M MASP1_ENST00000495249.1_Intron|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.V356M NM_139125.3 NP_624302.1 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 466 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) GTGTCCTCCACCACTATCAGG 0.617000 35 11 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169495230 169495230 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:169495230C>T ENST00000367796.3 - 18 5841 c.5640G>A c.(5638-5640)aaG>aaA p.K1880K F5_ENST00000367797.3_Silent_p.K1875K P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1875 F5/8 type A 3.|Plastocyanin-like 6. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GTTTTGATGCCTTCATTTCAA 0.363000 31 98 0 0 1 0 0 MTSS1L 92154 broad.mit.edu 37 16 70698939 70698939 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr16:70698939C>T ENST00000338779.6 - 13 1463 c.1189G>A c.(1189-1191)Gac>Aac p.D397N FLJ00418_ENST00000597002.1_Missense_Mutation_p.S83F NM_138383.2 NP_612392.1 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 397 filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1) 7 TCCACTCGGTCCTTCCTCCGC 0.711000 12 12 0 0 1 0 0 RABGAP1L 9910 broad.mit.edu 37 1 174200446 174200446 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:174200446C>T ENST00000251507.4 + 4 669 c.495C>T c.(493-495)ccC>ccT p.P165P RABGAP1L_ENST00000357444.6_Silent_p.P128P|RABGAP1L_ENST00000367689.3_5'UTR NM_014857.4 NP_055672.3 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like 165 PID. regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2) 45 GTCAATACCCCTTTCCTGTTA 0.408000 55 172 0 0 1 0 0 ENGASE 64772 broad.mit.edu 37 17 77082330 77082330 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:77082330C>T ENST00000579016.1 + 14 2131 c.2131C>T c.(2131-2133)Cgt>Tgt p.R711C NM_001042573.2 NP_001036038.1 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 711 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 CGGCCAGGATCGTCGCATGGA 0.632000 31 45 0 0 1 0 0 SGCE 8910 broad.mit.edu 37 7 94230005 94230005 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:94230005G>A ENST00000415788.2 - 8 1185 c.1098C>T c.(1096-1098)gtC>gtT p.V366V SGCE_ENST00000437425.2_Silent_p.V289V|SGCE_ENST00000445866.2_Silent_p.V330V|SGCE_ENST00000447873.1_Silent_p.V330V|SGCE_ENST00000428696.2_Silent_p.V330V|SGCE_ENST00000265735.7_Silent_p.V330V O43556 SGCE_HUMAN sarcoglycan, epsilon 330 cell-matrix adhesion|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma calcium ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 14 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TTAGAAAAAGGACCAGTGCCA 0.418000 9 22 0 0 1 0 0 ELMO3 79767 broad.mit.edu 37 16 67233170 67233170 + Missense_Mutation SNP A A G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr16:67233170A>G ENST00000393997.2 + 1 157 c.100A>G c.(100-102)Acc>Gcc p.T34A ELMO3_ENST00000360833.1_Missense_Mutation_p.T34A NM_024712.3 NP_078988.2 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 0 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) GGCCAGGTGCACCCTTGGCCG 0.677000 16 10 0 0 1 0 0 COL20A1 57642 broad.mit.edu 37 20 61938855 61938855 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr20:61938855C>T ENST00000422202.1 + 5 599 c.531C>T c.(529-531)ttC>ttT p.F177F COL20A1_ENST00000358894.6_Silent_p.F170F|COL20A1_ENST00000326996.6_Silent_p.F170F|COL20A1_ENST00000435874.1_Silent_p.F177F Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 170 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) GCCCCCAGTTCCGCTGCCTGC 0.682000 10 23 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13901540 13901540 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:13901540C>T ENST00000265104.4 - 14 1977 c.1873G>A c.(1873-1875)Gga>Aga p.G625R NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 625 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AAAATCTTTCCAGCGATGGGA 0.507000 Kartagener syndrome 5 14 0 0 1 0 0 NFE2 4778 broad.mit.edu 37 12 54686621 54686621 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:54686621C>T ENST00000540264.2 - 2 1168 c.659G>A c.(658-660)gGg>gAg p.G220E NFE2_ENST00000312156.4_Missense_Mutation_p.G220E|NFE2_ENST00000435572.2_Missense_Mutation_p.G220E|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Missense_Mutation_p.G220E Q16621 NFE2_HUMAN nuclear factor, erythroid 2 220 blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16 CCCTGCCTCCCCCCGTGCAGT 0.572000 15 24 0 0 1 0 0 USP47 55031 broad.mit.edu 37 11 11964207 11964207 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:11964207C>T ENST00000339865.5 + 19 3198 c.2435C>T c.(2434-2436)aCt>aTt p.T812I USP47_ENST00000399455.2_Missense_Mutation_p.T900I|USP47_ENST00000527733.1_Missense_Mutation_p.T880I|USP47_ENST00000539466.1_5'UTR NM_017944.3 NP_060414.3 Q96K76 UBP47_HUMAN ubiquitin specific peptidase 47 900 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 Epithelial(150;0.000339) AGCAAAAGTACTGAGACAAGT 0.418000 14 35 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226447030 226447030 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:226447030C>T ENST00000272907.6 + 4 1310 c.897C>T c.(895-897)ccC>ccT p.P299P NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 299 GTGCTACTCCCACGGTGCCTG 0.572000 28 25 0 0 1 0 0 MICALCL 84953 broad.mit.edu 37 11 12380020 12380020 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:12380020G>A ENST00000256186.2 + 9 2373 c.2082G>A c.(2080-2082)agG>agA p.R694R NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 694 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) AGCTGAGCAGGACTTGAGGAG 0.537000 78 75 0 0 1 0 0 OR6F1 343169 broad.mit.edu 37 1 247875174 247875174 + Missense_Mutation SNP T T C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:247875174T>C ENST00000302084.2 - 1 931 c.884A>G c.(883-885)aAg>aGg p.K295R RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TCTTACTTCCTTATTACGAAG 0.428000 40 107 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105415094 105415094 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr14:105415094G>A ENST00000333244.5 - 7 6813 c.6694C>T c.(6694-6696)Ctc>Ttc p.L2232F AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2232 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGCCCTTTGAGGCCGACTTCC 0.617000 86 101 0 0 1 0 0 CFAP54 144535 broad.mit.edu 37 12 97157951 97157951 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:97157951C>T ENST00000524981.3 + 26 3416 c.3416C>T c.(3415-3417)tCt>tTt p.S1139F Q6ZTY8 CL063_HUMAN 1113 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 AGAAGTAGTTCTGTTAAAGAA 0.333000 8 22 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138030215 138030215 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:138030215C>T ENST00000409968.1 + 11 2557 c.2379C>T c.(2377-2379)tcC>tcT p.S793S THSD7B_ENST00000413152.2_Silent_p.S762S|THSD7B_ENST00000272643.3_Silent_p.S793S|THSD7B_ENST00000543459.1_Intron 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) AAGATGTTTCCTTGTGTCCTG 0.383000 7 19 0 0 1 0 0 RHBG 57127 broad.mit.edu 37 1 156347822 156347822 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:156347822C>T ENST00000400992.2 + 4 577 c.209C>T c.(208-210)tCc>tTc p.S70F RHBG_ENST00000368249.1_Missense_Mutation_p.S139F|RHBG_ENST00000255013.3_Missense_Mutation_p.S70F|RHBG_ENST00000368246.2_Missense_Mutation_p.S139F|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000451864.2_Missense_Mutation_p.S70F Q9H310 RHBG_HUMAN Rh family, B glycoprotein (gene/pseudogene) 139 transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) GTGCTCATCTCCTTTGGTGCC 0.602000 57 57 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784063 9784063 + Missense_Mutation SNP A A G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:9784063A>G ENST00000304374.2 + 1 806 c.410A>G c.(409-411)gAc>gGc p.D137G NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 137 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane p.D137G(1) NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) ATCAGCGTGGACCGCTACTGG 0.612000 3 37 0 0 1 0 0 MTSS1L 92154 broad.mit.edu 37 16 70698940 70698940 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr16:70698940C>T ENST00000338779.6 - 13 1462 c.1188G>A c.(1186-1188)aaG>aaA p.K396K FLJ00418_ENST00000597002.1_Silent_p.S83S NM_138383.2 NP_612392.1 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 396 filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1) 7 CCACTCGGTCCTTCCTCCGCT 0.706000 12 14 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47398540 47398540 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr18:47398540C>T ENST00000285039.7 - 27 3899 c.3600G>A c.(3598-3600)ctG>ctA p.L1200L MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Silent_p.L341L NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1200 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) ATCTTACCTTCAGACTATTGT 0.527000 200 256 0 0 1 0 0 PAN3 255967 broad.mit.edu 37 13 28841264 28841264 + Silent SNP T T C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr13:28841264T>C ENST00000399613.1 + 10 1069 c.1006T>C c.(1006-1008)Ttg>Ctg p.L336L PAN3_ENST00000282391.5_Silent_p.L224L|PAN3_ENST00000380958.3_Silent_p.L536L Q58A45 PAN3_HUMAN PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 536 Interaction with polyadenylate-binding protein. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) GTGCATGGTGTTGGTCGACAT 0.378000 26 38 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32090247 32090247 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:32090247C>T ENST00000438447.1 + 20 7081 c.6693C>T c.(6691-6693)agC>agT p.S2231S PDZD2_ENST00000282493.3_Silent_p.S2231S O15018 PDZD2_HUMAN PDZ domain containing 2 2231 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AGTTCTCAAGCCATTTTGGAC 0.627000 138 210 0 0 1 0 0 C10orf67 256815 broad.mit.edu 37 10 23611456 23611456 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr10:23611456G>A ENST00000323327.4 - 3 408 c.341C>T c.(340-342)tCc>tTc p.S114F NM_153714.2 NP_714925.2 Q8IYJ2 CJ067_HUMAN chromosome 10 open reading frame 67 114 central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1) 5 TACCTGGAGGGATTTCATCAT 0.393000 11 1 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10428920 10428920 + Nonsense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:10428920C>T ENST00000245503.5 - 32 4769 c.4385G>A c.(4384-4386)tGg>tAg p.W1462* CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Nonsense_Mutation_p.W1462*|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1462 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 TTTCTGTTTCCATTCTGCCAG 0.468000 22 26 0 0 1 0 0 OR10J1 26476 broad.mit.edu 37 1 159410169 159410169 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:159410169C>T ENST00000423932.3 + 1 658 c.621C>T c.(619-621)atC>atT p.I207I RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 207 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) TCAATGAAATCCTGACTTTGA 0.438000 56 129 0 0 1 0 0 OVOL1 5017 broad.mit.edu 37 11 65561697 65561697 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:65561697G>A ENST00000335987.3 + 2 648 c.296G>A c.(295-297)gGc>gAc p.G99D OVOL1_ENST00000532448.1_Missense_Mutation_p.G37D NM_004561.3 NP_004552.2 O14753 OVOL1_HUMAN ovo-like zinc finger 1 99 transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 6 READ - Rectum adenocarcinoma(159;0.17) AGAGACCATGGCTTCCTGCGC 0.622000 45 47 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2855612 2855612 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:2855612C>T ENST00000520002.1 - 55 8856 c.8301G>A c.(8299-8301)acG>acA p.T2767T CSMD1_ENST00000542608.1_Silent_p.T2708T|CSMD1_ENST00000602557.1_Silent_p.T2767T|CSMD1_ENST00000400186.3_Silent_p.T2709T|CSMD1_ENST00000602723.1_Silent_p.T2709T|CSMD1_ENST00000537824.1_Silent_p.T2766T Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2767 Sushi 19. integral to membrane p.T2766T(1)|p.T2495T(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GCAAATAGCCCGTGTTGCAGG 0.557000 25 33 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170784365 170784365 + Splice_Site SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr3:170784365C>T ENST00000436636.2 - 31 4203 c.3859_splice c.e31+1 p.A1287_splice TNIK_ENST00000470834.1_Splice_Site_p.A1250_splice|TNIK_ENST00000475336.1_Splice_Site_p.A1195_splice|TNIK_ENST00000538048.1_Splice_Site_p.A1239_splice|TNIK_ENST00000488470.1_Splice_Site_p.A1232_splice|TNIK_ENST00000460047.1_Splice_Site_p.A1224_splice|TNIK_ENST00000284483.8_Splice_Site_p.A1279_splice|TNIK_ENST00000341852.6_Splice_Site_p.A1203_splice|TNIK_ENST00000369326.5_Splice_Site_p.A1265_splice|TNIK_ENST00000357327.5_Splice_Site_p.A1258_splice NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 1287 CNH. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GTTAACCTACCCACAGACGTG 0.423000 20 4 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155099294 155099294 + Missense_Mutation SNP T T G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:155099294T>G ENST00000392825.3 + 6 1129 c.562T>G c.(562-564)Tta>Gta p.L188V GALNT13_ENST00000409237.1_Missense_Mutation_p.L188V NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 188 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 ACGCTCTGGGTTAATACGTGC 0.408000 15 20 0 0 1 0 0 FABP6 2172 broad.mit.edu 37 5 159640801 159640801 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:159640801G>A ENST00000393980.4 + 3 256 c.110G>A c.(109-111)aGa>aAa p.R37K FABP6_ENST00000393982.1_Missense_Mutation_p.R37K NM_001130958.1 NP_001124430.1 P51161 FABP6_HUMAN fatty acid binding protein 6, ileal 0 bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation cytosol transporter activity breast(1)|kidney(1)|large_intestine(1)|lung(2) 5 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GACCTGCAGAGAATGAAACAG 0.473000 21 30 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205031573 205031573 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:205031573G>A ENST00000331830.4 + 10 1400 c.1116G>A c.(1114-1116)cgG>cgA p.R372R NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 372 Ig-like C2-type 4. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CACAGAACCGGGTGGAGGTGT 0.617000 27 89 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168110632 168110632 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:168110632C>T ENST00000409195.1 + 10 10735 c.10646C>T c.(10645-10647)tCa>tTa p.S3549L XIRP2_ENST00000409043.1_Missense_Mutation_p.H423Y|XIRP2_ENST00000409756.2_Missense_Mutation_p.H423Y|XIRP2_ENST00000409605.1_Missense_Mutation_p.H201Y|XIRP2_ENST00000295237.9_Missense_Mutation_p.S3549L|XIRP2_ENST00000420519.1_Missense_Mutation_p.H456Y|XIRP2_ENST00000409728.1_Missense_Mutation_p.H456Y|XIRP2_ENST00000409273.1_Missense_Mutation_p.S3327L NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3374 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GCAGAATTTTCATAAGTCCTG 0.383000 23 16 0 0 1 0 0 MRAP2 112609 broad.mit.edu 37 6 84772692 84772692 + Missense_Mutation SNP A A T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:84772692A>T ENST00000257776.4 + 3 343 c.208A>T c.(208-210)Aca>Tca p.T70S NM_138409.2 NP_612418.2 Q96G30 MRAP2_HUMAN melanocortin 2 receptor accessory protein 2 70 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 19 GCTGACCAAGACAGGAGCCCC 0.448000 16 12 0 0 1 0 0 PTPN3 5774 broad.mit.edu 37 9 112166836 112166836 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:112166836G>A ENST00000412145.1 - 14 4005 c.1452C>T c.(1450-1452)ttC>ttT p.F484F PTPN3_ENST00000394827.3_Silent_p.F83F|PTPN3_ENST00000374541.2_Silent_p.F615F|PTPN3_ENST00000446349.1_Silent_p.F439F|PTPN3_ENST00000262539.3_Silent_p.F461F NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 615 negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 tggcttcggggaaaagctggt 0.522000 48 37 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14378242 14378242 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:14378242C>T ENST00000403951.2 - 23 2442 c.2023G>A c.(2023-2025)Gga>Aga p.G675R DGKB_ENST00000258767.5_Missense_Mutation_p.G675R|DGKB_ENST00000402815.1_Missense_Mutation_p.G674R|DGKB_ENST00000399322.3_Missense_Mutation_p.G675R|DGKB_ENST00000444700.2_Missense_Mutation_p.G656R|DGKB_ENST00000406247.3_Missense_Mutation_p.G675R|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.G667R Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 675 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) TTAGACTCTCCCCAAAGATTG 0.413000 23 41 0 0 1 0 0 SELL 6402 broad.mit.edu 37 1 169677859 169677859 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:169677859G>A ENST00000236147.4 - 3 370 c.210C>T c.(208-210)tgC>tgT p.C70C SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron NM_000655.4 NP_000646.2 P14151 LYAM1_HUMAN selectin L 57 C-type lectin. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 15 all_hematologic(923;0.208) AATTGTCTCGGCAGAATCTTC 0.433000 8 6 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23066818 23066818 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr20:23066818G>A ENST00000246006.4 - 1 159 c.12C>T c.(10-12)tcC>tcT p.S4S NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 4 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) gcagGCCCATGGAGGTGGCCA 0.706000 6 2 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9056557 9056557 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:9056557C>T ENST00000397910.4 - 3 31092 c.30889G>A c.(30889-30891)Gcc>Acc p.A10297T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10299 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCTGAGATGGCTCGTGGAACT 0.522000 31 61 0 0 1 0 0 IKZF1 10320 broad.mit.edu 37 7 50468178 50468178 + Silent SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:50468178C>T ENST00000331340.3 + 8 1568 c.1413C>T c.(1411-1413)ttC>ttT p.F471F IKZF1_ENST00000357364.4_Silent_p.F384F|IKZF1_ENST00000439701.1_Silent_p.F429F|IKZF1_ENST00000343574.5_Silent_p.F384F|IKZF1_ENST00000438033.1_Silent_p.F384F|IKZF1_ENST00000349824.4_Silent_p.F328F|IKZF1_ENST00000359197.5_Silent_p.F429F|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000346667.4_Silent_p.F241F NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 471 Required for binding PP1CC (By similarity). cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(28) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GGGTGCTCTTCCTGGATCACG 0.617000 """D,T""" BCL6 """ALL, DLBCL""" 9 18 0 0 1 0 0 SLC26A9 115019 broad.mit.edu 37 1 205890931 205890931 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:205890931G>A ENST00000367135.3 - 17 1931 c.1818C>T c.(1816-1818)ccC>ccT p.P606P SLC26A9_ENST00000367134.2_Silent_p.P606P|SLC26A9_ENST00000340781.4_Silent_p.P606P NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 606 STAS. integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) GGTCGGTGGGGGGCGCATTCT 0.617000 4 11 0 0 1 0 0 CUTA 51596 broad.mit.edu 37 6 33384521 33384521 + Missense_Mutation SNP A A G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:33384521A>G ENST00000374500.5 - 6 634 c.503T>C c.(502-504)aTt>aCt p.I168T CUTA_ENST00000488478.1_Silent_p.N132N|CUTA_ENST00000374496.3_Missense_Mutation_p.I126T|CUTA_ENST00000440279.3_Missense_Mutation_p.I126T|CUTA_ENST00000607266.1_Missense_Mutation_p.I126T|CUTA_ENST00000494751.1_Intron|CUTA_ENST00000488034.1_Missense_Mutation_p.I149T NM_001014433.2 NP_001014433.1 O60888 CUTA_HUMAN cutA divalent cation tolerance homolog (E. coli) 149 protein localization|response to metal ion membrane enzyme binding SLC22A1/CUTA(2) kidney(1)|lung(3)|urinary_tract(1) 5 AGGCAATGCAATTACCTCGGC 0.517000 44 20 0 0 1 0 0 ZNF213 7760 broad.mit.edu 37 16 3190713 3190713 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr16:3190713G>A ENST00000396878.3 + 6 1220 c.745G>A c.(745-747)Gag>Aag p.E249K ZNF213_ENST00000576416.1_Missense_Mutation_p.E249K|ZNF213_ENST00000416391.2_Missense_Mutation_p.E91K|ZNF213_ENST00000574902.1_Missense_Mutation_p.E249K NM_001134655.1|NM_004220.2 NP_001128127.1|NP_004211.1 O14771 ZN213_HUMAN zinc finger protein 213 249 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 16 AGGCCAAAGTGAGAAGTCCCT 0.627000 23 50 0 0 1 0 0 BNC2 54796 broad.mit.edu 37 9 16436784 16436784 + Nonsense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:16436784G>A ENST00000380672.4 - 6 1465 c.1408C>T c.(1408-1410)Cga>Tga p.R470* BNC2_ENST00000380666.2_Nonsense_Mutation_p.R470*|BNC2_ENST00000380667.2_Nonsense_Mutation_p.R403*|BNC2_ENST00000545497.1_Nonsense_Mutation_p.R375* NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 470 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) ATGGTGCATCGATGTTTGATC 0.443000 31 47 0 0 1 0 0 RNPEP 6051 broad.mit.edu 37 1 201970534 201970534 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:201970534C>T ENST00000295640.4 + 7 1278 c.1235C>T c.(1234-1236)aCc>aTc p.T412I RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Missense_Mutation_p.T373I|RP11-465N4.4_ENST00000419190.1_RNA NM_020216.3 NP_064601.3 Q9H4A4 AMPB_HUMAN arginyl aminopeptidase (aminopeptidase B) 412 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) TATAATGAGACCCCCTACGAG 0.493000 12 57 0 0 1 0 0 HDGFL1 154150 broad.mit.edu 37 6 22569936 22569936 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:22569936G>A ENST00000510882.2 + 1 142 c.132G>A c.(130-132)ggG>ggA p.G44G HDGFL1_ENST00000230012.3_Silent_p.G44G Q5TGJ6 HDGL1_HUMAN hepatoma derived growth factor-like 1 44 PWWP. kidney(1)|large_intestine(3)|lung(7) 11 Ovarian(93;0.163) TTTTCTTCGGGACCCACGAGA 0.607000 38 27 0 0 1 0 0 ZNF425 155054 broad.mit.edu 37 7 148801424 148801424 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:148801424G>A ENST00000378061.2 - 4 1671 c.1539C>T c.(1537-1539)ctC>ctT p.L513L NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 513 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GGTGCTGCGTGAGCCGCGACT 0.637000 12 89 0 0 1 0 0 PPP3R2 5535 broad.mit.edu 37 9 104357199 104357199 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:104357199C>T ENST00000374806.1 - 1 84 c.14G>A c.(13-15)gGa>gAa p.G5E GRIN3A_ENST00000361820.3_Intron NM_147180.2 NP_671709.1 Q96LZ3 CANB2_HUMAN protein phosphatase 3, regulatory subunit B, beta 2 calcium ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) GGCCTCGTTTCCCATTGTGGA 0.587000 40 36 0 0 1 0 0 CHST8 64377 broad.mit.edu 37 19 34263251 34263251 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:34263251G>A ENST00000262622.3 + 4 1316 c.558G>A c.(556-558)gtG>gtA p.V186V CHST8_ENST00000438847.2_Silent_p.V186V|CHST8_ENST00000434302.1_Silent_p.V186V NM_022467.3 NP_071912.2 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 186 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) GTATCTTCGTGGAGGACCGCC 0.701000 39 47 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 16008252 16008252 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:16008252C>T ENST00000221700.5 - 2 265 c.170G>A c.(169-171)cGg>cAg p.R57Q CYP4F2_ENST00000592328.1_Missense_Mutation_p.R57Q|CYP4F2_ENST00000011989.7_5'UTR NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 57 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AAACCAGTTCCGTCTTGGGGG 0.617000 40 49 0 0 1 0 0 CCP110 9738 broad.mit.edu 37 16 19547953 19547953 + Missense_Mutation SNP C C T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr16:19547953C>T ENST00000396212.2 + 5 1398 c.962C>T c.(961-963)tCg>tTg p.S321L CCP110_ENST00000381396.5_Missense_Mutation_p.S321L|CCP110_ENST00000396208.2_Missense_Mutation_p.S321L NM_014711.4 NP_055526.3 O43303 CP110_HUMAN centriolar coiled coil protein 110kDa 321 centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 GCTAGCTTTTCGAAAGTGGAC 0.383000 26 24 0 0 1 0 0 GUK1 2987 broad.mit.edu 37 1 228335363 228335363 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:228335363G>A ENST00000366718.1 + 6 865 c.438G>A c.(436-438)gtG>gtA p.V146V GUK1_ENST00000366721.1_Silent_p.V148V|GUK1_ENST00000470040.1_Intron|GUK1_ENST00000366722.1_Silent_p.V144V|GUK1_ENST00000391865.3_Silent_p.V167V|GUK1_ENST00000366726.1_Silent_p.V146V|GUK1_ENST00000366728.2_Silent_p.V167V|GUK1_ENST00000366730.1_Silent_p.V146V|GUK1_ENST00000366723.1_Silent_p.V167V|GUK1_ENST00000366716.1_Silent_p.V146V|GUK1_ENST00000312726.4_Silent_p.V146V NM_001159391.1 NP_001152863.1 Q16774 KGUA_HUMAN guanylate kinase 1 146 Guanylate kinase-like. nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process cytosol ATP binding|guanylate kinase activity endometrium(2)|lung(5)|prostate(1)|soft_tissue(1) 9 Prostate(94;0.0405) AGAGCCTGGTGAAGCGGCTGG 0.647000 4 75 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31816005 31816005 + Missense_Mutation SNP A A G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr10:31816005A>G ENST00000446923.2 + 9 3531 c.3140A>G c.(3139-3141)gAg>gGg p.E1047G ZEB1_ENST00000542815.3_Missense_Mutation_p.E996G|ZEB1_ENST00000560721.2_Missense_Mutation_p.E1043G|ZEB1_ENST00000320985.10_Missense_Mutation_p.E1063G|ZEB1_ENST00000361642.5_Missense_Mutation_p.E1064G NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 1063 Glu-rich (acidic). cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) caaggggatgaggaagaggag 0.448000 5 0 0 0 1 0 0 UBAC2 337867 broad.mit.edu 37 13 99896856 99896856 + Missense_Mutation SNP G G C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr13:99896856G>C ENST00000403766.3 + 4 502 c.367G>C c.(367-369)Gct>Cct p.A123P UBAC2_ENST00000376440.2_Intron NM_001144072.1 NP_001137544.1 Q8NBM4 UBAC2_HUMAN UBA domain containing 2 123 integral to membrane breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2) 10 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CATCACTGCAGCTAGTAATTT 0.333000 8 16 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112676911 112676911 + Silent SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:112676911G>A ENST00000550722.1 - 34 5192 c.4797C>T c.(4795-4797)gcC>gcT p.A1599A HECTD4_ENST00000377560.5_Silent_p.A1573A|HECTD4_ENST00000430131.2_Silent_p.A1323A NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 AGGCAGCCCAGGCCATGGTGG 0.527000 25 28 0 0 1 0 0 SAMD14 201191 broad.mit.edu 37 17 48193070 48193070 + Missense_Mutation SNP G G A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:48193070G>A ENST00000330175.4 - 7 997 c.680C>T c.(679-681)tCc>tTc p.S227F SAMD14_ENST00000503131.1_Missense_Mutation_p.S227F NM_001257359.1 NP_001244288.1 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 227 breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 15 TGACCTGCCGGACCCCTCCAC 0.662000 61 76 0 0 1 0 0 DTX2 113878 broad.mit.edu 37 7 76112249 76112249 + Frame_Shift_Del DEL A A - rs147779783 byFrequency TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:76112249delA ENST00000324432.5 + 5 1203 c.693delA c.(691-693)ccfs p.P231fs DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 231 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 AGCACCCCCCACACAGGACCG 0.657 9 1171 --- --- --- --- FAM66D 100132923 broad.mit.edu 37 8 11994579 11994580 + RNA DEL TG TG - TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:11994579_11994580delTG ENST00000434078.2 + 0 608 NR_027425.1 TGTTCgtgtttgtgtgtgtgtg 0.505 2 4 --- --- --- --- MFAP4 4239 broad.mit.edu 37 17 19290123 19290125 + In_Frame_Del DEL AGC AGC - TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:19290123_19290125delAGC ENST00000395592.2 - 2 176_178 c.105_107delGCT c.(103-108)ctt>ct p.LL35del MFAP4_ENST00000299610.4_In_Frame_Del_p.LL11del|MFAP4_ENST00000497081.2_In_Frame_Del_p.LL36del NM_001198695.1 NP_001185624.1 P55083 MFAP4_HUMAN microfibrillar-associated protein 4 11 Fibrinogen C-terminal. cell adhesion|signal transduction microfibril receptor binding large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 10 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) CGTGGAGAGAAGCAGCAGCAGCG 0.655 2 4 --- --- --- ---